Evento Formativo Residenziale Programma corso

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Evento Formativo Residenziale
Programma corso
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ASSOCIAZIONE
OASI MARIA SS.
8th International Meeting on Copy Number Variants and Genes in
Intellectual Disability and Autism
12-13 Aprile 2013 - Troina (EN)
Rilevanza
Il congresso 8th International Meeting on Copy Number Variants and Genes in Intellectual Disability and
Autism rappresenta un evento scientifico internazionale che utilizza la competenza di alcuni dei più
importanti protagonisti scientifici del settore. Dietro l’organizzazione di questo meeting si pone
l’esperienza di sette edizioni precedenti che, a partire dalla prima, tenutasi nel 2005, ha permesso di
migliorare sempre più il livello scientifico e didattico dell’evento. L’edizione di quest’anno, per l’appunto
l’ottava, contiene nove relazioni, che sono introdotte e concluse da due relazioni più estese, cosiddette
keynote lectures, di due dei più eminenti protagonisti del settore scientifico, rispettivamente Evan Eichler
e Jean-Louis Mandel. Gli argomenti trattati andranno dall’aggiornamento sui geni, le mutazioni e i
pathways coinvolti nell’autismo e nella disabilità intellettiva ai guadagni di numero di copie che
coinvolgono il cromosoma X, ai polimorfismi di inversione che predispongono a malattie come la
disabilità intellettiva e l’autismo, all’utilizzo delle tecniche di Nezt-Generation Sequencing in pazienti con
disabilità intellettiva ed epilessia, allo studio fenotipico e genotipico di specifici loci genetici come il
16p11.2, al contributo di geni recessivi e alla perdita di funzione della delta catenina nell’autismo, al bias
di genere nella disabilità intellettiva, alle terapie con farmaci GABAergici nella sindrome dell’X fragile, per
concludere con la keynote lecture sulla ricaduta di tutte le suddette conoscenze nella cura e terapia dei
pazienti con disabilità intellettiva. I partecipanti, selezionati dall’internazionalità del meeting e dalla
lingua inglese senza traduzione simultanea, potranno avere la possibilità di confrontarsi con i docenti sia
dopo le loro relazioni che in momenti successivi, appositamente organizzati.
Finalità
Fare acquisire conoscenze teoriche e aggiornamenti in tema di geni e mutazioni oinvolti nell’autismo e
nella disabilità intellettiva.
Obiettivi Specifici
Grazie alla partecipazione al congresso i presenti potranno
Ampliare le loro conoscenze in tema di geni e mutazioni nell’ambito dell’ autismo e della
disabilità intellettiva
Accrescere le proprie competenze nell’ambito della ricerca sulle mutazioni e i geni coinvolti
nell’autismo e nella disabilità intellettiva
Confrontarsi con i maggiori protagonisti scientifici del settore.
Metodologia
Relazioni su temi preordinati, Discussione in assemblea, confronto con i docenti e i partecipanti
Programma
Venerdì 12 April 2012
9.15-9.30 - OPENING ADDRESSES
Giovanni Neri, President of the Italian Society of Human Genetics
Corrado Romano, on behalf of the Scientific Committee
“8th International Meeting on Copy Number Variants and Genes in
Intellectual Disability and Autism”
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9.30-11.30
MECHANISMS SESSION - Chair: Mariano Rocchi (Bari, I)
9.30-10.15
OPENING KEYNOTE LECTURE
Autism and Neurocognitive Disease: New Mutations, Genes and Pathways ( Evan Eichler - Seattle, USA)
Copy number gains at the X chromosome due to recombination- and replication-based mechanisms
in ID disorders (Guy Froyen - Leuven, BE)
Inversion Polymorphisms and Disease Predisposition (Francesca Antonacci - Bari, I)
Discussion
Break and Poster Viewing
10.15-10.45
10.45-11.15
11.15-11.30
11.30-12.00
12.00-13.00 - SHORT COMMUNICATIONS SESSION 1 - Chair: Romano Tenconi (Padova, I)
14.30-16.15 - CLINICAL SESSION 1 - Chair: Giovanni Neri (Roma, I)
14.30-15.00
15.00-15.30
15.30-16.00
16.00-16.15
16.15-16.45
Next-generation sequencing in Intellectual Disability (Bert de Vries - Nijmegen, NL)
Gene Discovery in the Epileptic Encephalopathies (Heather Mefford - Seattle, USA)
Phenotypes and genes associated with gene dosage at the 16p11.2 locus (Jacques Beckmann Lausanne, CH)
Discussion
Poster Viewing
16.45-17.45 - SHORT COMMUNICATIONS SESSION 2
Chair: Bert de Vries (Nijmegen, NL)
SABATO 13 APRILE 2013
09.30-13.00 -
CLINICAL SESSION 2 - Chair : Evan Eichler (Seattle, USA)
09.30-10.00
10.00-10.30
10.30-11.00
11.00-11.30
11.30-11.50
11.50-12.15
Assessing recessive contributions to autism – (Tim Yu - Boston, USA)
Loss of delta catenin function in autism – (Tychele Turner - Baltimore, USA)
Gender bias in neuro-developmental disorders – (Sebastien Jacquemont - Lausanne, CH)
Towards targeted therapy of the fragile X syndrome using GABAergic drugs ( Frank Kooy - Antwerp, BE)
Discussion
Poster Viewing
12.15 – 13.00
CLOSING KEYNOTE LECTURE
How to deal with the highly complex genetics of intellectual disability and autism, to improve medical care
and treatments of patients (Jean-Louis Mandel - Strasbourg, F)
Closing remarks (Corrado Romano, Scientific Committee)
13.00 -13.00
RESPONSABILE SCIENTIFICO/FORMATIVO
Romano Corrado – Direttore UOC di Pediatria e Genetica Medica – IRCCS Oasi Maria SS. – Troina (En)
DOCENTI
Francesca Antonacci (Bari, Italy)
Jacques Beckmann (Lausanne, Switzerland)
Evan E Eichler (Seattle, USA)
Guy Froyen (Leuven, Belgium)
Sebastien Jacquemont (Lausanne, Switzerland)
Frank Kooy (Antwerp, Belgium)
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Jean-Louis Mandel (Strasbourg, France)
Heather C Mefford (Seattle, USA)
Tychele Turner(Baltimora, USA)
Bert BA de Vries (Nijmegen, The Netherlands)
Tim W. Yu (Boston, USA)
COORDINAMENTO DIDATTICO E ORGANIZZATIVO
Carolina Tomasi – Responsabile dell’Ufficio Formazione ed ECM – IRCCS Oasi Maria SS. Troina, [email protected]
SEGRETERIA ORGANIZZATIVA e TUTORING
Eleonora Di Fatta
+39 0935 936301
Rosi Di Giorgio
+39 0935 936374
[email protected]
[email protected]
INFORMAZIONI GENERALI
LUOGO DI SVOLGIMENTO
La Cittadella dell’Oasi – C.da San Michele - Troina
DESTINATARI e ACCREDITAMENTO ECM
L’evento è destinato ad un massimo di 100 partecipanti.
La procedura di accreditamento ECM è stata avviata per le figure seguenti professionali: medico, biologo e tecnico sanitario
di laboratorio
COME ISCRIVERSI
Compilare la scheda on line andando all’indirizzo
http://www.irccs.oasi.en.it/Formazione/Offerta%20Formativa/tipologiaCorsi.asp?livello1=4&livello2=11&corso=10006
FONTI DI FINANZIAMENTO
L’evento è interamente sostenuto dall’IRCCS senza il supporto di sponsor istituzionali o commerciali
La quota di iscrizione al corso è di € 80,00 da versare all’atto dell’iscrizione effettuando il pagamento tramite bonifico
bancario su IT40Q0103016800000063127654 Banca Monte dei Paschi di Siena – Filiale di Enna intestato a Associazione
Oasi Maria SS. Troina.
Sono esenti dal pagamento di detta quota i dipendenti dell’ IRCCS Oasi Maria SS. e tutti gli operatori appartenenti al
Servizio Sanitario della Regione Sicilia.
REGISTRAZIONE PARTECIPANTI E RILASCIO ATTESTATI
Le operazioni di registrazione dei partecipanti saranno effettuate a partire da mezz’ora prima dell’inizio del congresso ed
entro l’orario di avvio, dopo non sarà possibile registrarsi.
Al termine del corso sarà rilasciato un attestato di frequenza e, a procedure di accreditamento ultimate, l’attestato con i
crediti formativi ECM.
Si ricorda che per acquisire l’attestato ECM occorre garantire la presenza in aula per l’intera durata dell’evento.
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ROMANO CORRADO : vedi CV del Responsabile Scientifico
FRANCESCA ANTONACCI
PRESENT POSITION
Assistant Professor Department of Biology University of Bari, Bari, Italy
EDUCATION
Postdoctoral fellow at University of Washington November 2007 – July 2012
Department of Genome Sciences, Seattle, WA
PhD in Genetics and Molecular Evolution November 2004 – October 2007
Department of Genetics and Microbiology - University of Bari, Bari (Italy)
Master’s Degree in Biological Science September 1999 – 22nd July 2004
Magna Cum Laude - University of Bari, Bari (Italy)
PROFESSIONAL EXPERIENCE
Assistant Professor July 2012-present - Department of Biology - University of Bari, Bari, Italy
Postdoctoral fellow November 2007 – July 2012 - Evan E. Eichler’s Laboratory - Department of Genome Sciences
University of Washington, Seattle, WA
Training as visiting PhD student March 2007 – June 2007 - Evan Eichler’s Laboratory Department of Genome Sciences
Training as visiting PhD student May 2006 – December 2006 - Franki Speleman’s Laboratoriy Center for Medical Genetics,
Ghent University Hospital Ghent, Belgium
PhD in “Genetics and Molecular Evolution” November 2004 – October 2007 - Department of Genetics and Microbiology
University of Bari (Italy) - Advisors: Prof. Mariano Rocchi and Prof. Mario Ventura
Internship as master student March 2003 – July 2004 - Prof. Mariano Rocchi’s Laboratory - Department of Genetics and
Microbiology - University of Bari (Italy)
FELLOWSHIPS AND AWARDS
Finalist for the 2012 ISSNAF (Italian Scientists and Scholars in North America Foundation) Young Investigator Award
EMBO (European Molecular Biology Organization) fellowship (ASTF 356-2006) for the project “Array-CGH detection of
micro rearrangements in MR individuals” (2006, Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium)
PUBBLICATIONS
22. Steinberg KM*, Antonacci F*, Sudmant P, Kidd JM, Campbell CD, Vives L, Malig M, Scheinfeldt L,
Beggs W, Ibrahim M, Lema G, Nyambo TB, Omar SA, Bodo JM, Froment A, Donnelly MP, Kidd KK,
Tishkoff SA, Eichler EE. * These authors contributed equally to this work., Structural diversity and African origin of the
17q21.31 inversion polymorphism.Nat Genet. 2012 Jul 1;44(8):872-80.
21. Fieuw A, Kumps C, Schramm A, Pattyn F, Menten B, Antonacci F, Sudmant P, Schulte JH, Roy NV, Vergult S, Buckley PG,
Paepe AD, Noguera R, Versteeg R, Stallings R, Eggert A, Vandesompele J,, Preter KD, Speleman F., Identification of a novel
recurrent 1q42.2-1qter deletion in high risk MYCN single copy 11q deleted neuroblastomas., Int J Cancer. 2012 Jun
1;130(11):2599-606.
20. Dennis MY*, Nuttle X*, Sudmant PH, Antonacci F, Graves TA, Nefedov M, Rosenfeld JA, Sajjadian S, Malig M, Kotkiewicz
H, Curry CJ, Shafer S, Shaffer LG, de Jong PJ, Wilson RK, Eichler EE * These authors contributed equally to this work.
Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication.Cell. 2012 May 11;149(4):912-22.
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19. Chen YZ, Matsushita M, Robertson P, Rieder M, Girirajan S, Antonacci F, Lipe H, Eichler EE, Nickerson D, Bird T, Raskind
W. Autosomal Dominant Familial Dyskinesia and Facial Myokymia: Single Exome Sequencing Identifies a Mutation in
Adenylate Cyclase 5.Arch Neurol. 2012 May; 69(5):630-635.
15. Hurle B, Marques-Bonet T, Antonacci F, Hughes I, Ryan JF; NISC Comparative Sequencing Program, Eichler EE, Ornitz DM,
Green ED. Lineage-specific evolution of the vertebrate Otopetrin gene family revealed by comparative genomic analyses.
BMC Evol Biol. 2011 Jan 24;11:23.
17. Alkan C*, Cardone MF*, Catacchio CR, Antonacci F, O'Brien SJ, Ryder OA, Purgato S, Zoli M, Della Valle G, Eichler EE,
Ventura M. * These authors contributed equally to this work. Genome-wide characterization of centromeric satellites from
multiple mammalian genomes. Genome Res. 2011 Jan;21(1):137-45.
16. Sudmant PH*, Kitzman JO*, Antonacci F, Alkan C, Malig M, Tsalenko A, Sampas N, Bruhn L, Shendure J; 1000 Genomes
Project, Eichler EE. * These authors contributed equally to this work. Diversity of human copy number variation and
multicopy genes. Science. 2010 Oct 29;330(6004):641-6.
15. Mefford HC, Shafer N, Antonacci F, Tsai JM, Park SS, Hing AV, Rieder MJ, Smyth MD, Speltz ML, Eichler EE, Cunningham
ML. Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in
two cousins with metopic craniosynostosis. Am J Med Genet A. 2010 Sep;152A(9):2203-10.
14. Antonacci F, Kidd JM, Marques-Bonet T, Teague B, Ventura M, Girirajan S, Alkan C, Campbell CD, Vives L, Malig M,
Rosenfeld JA, Ballif BC, Shaffer LG, Graves TA, Wilson RK, Schwartz DC, Eichler EE. A large and complex structural
polymorphism at 16p12.1 underlies microdeletion disease risk. Nat Genet. 2010 Sep;42(9):745-50.
13. Kidd JM, Sampas N, Antonacci F, Graves T, Fulton R, Hayden HS, Alkan C, Malig M, Ventura M, Giannuzzi G, Kallicki J,
Anderson P, Tsalenko A, Yamada NA, Tsang P, Kaul R, Wilson RK, Bruhn L, Eichler EE. Characterization of missing human
genome sequences and copy-number polymorphic insertions Nat Methods. 2010 May;7(5):365-71.
12. Girirajan S*, Rosenfeld JA*, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh T, McCarthy SE, Baker C, Mefford
HC, Kidd JM, Browning SR, Browning BL, Dickel DE, Levy DL, Ballif BC, Platky K, Farber DM, Gowans GC, Wetherbee JJ,
Asamoah A, Weaver DD, Mark PR, Dickerson J, Garg BP, Ellingwood SA, Smith R, Banks VC, Smith W, McDonald MT, Hoo JJ,
French BN, Hudson C, Johnson JP, Ozmore JR, Moeschler JB, Surti U, Escobar LF, El-Khechen D, Gorski JL, Kussmann J,
Salbert B, Lacassie Y, Biser A, McDonald-McGinn DM, Zackai EH, Deardorff MA, Shaikh TH, Haan E, Friend KL, Fichera M,
Romano C, Gécz J, DeLisi LE, Sebat J, King MC, Shaffer LG, Eichler EE. * These authors contributed equally to this work.
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.Nat Genet. 2010 Mar;42(3):2039.
11. Alkan C, Kidd JM, Marques-Bonet T, Aksay G, Antonacci F, Hormozdiari F, Kitzman JO, Baker C, Malig M, Mutlu O,
Sahinalp SC, Gibbs RA, Eichler EE. Personalized copy number and segmental duplication maps using next-generation
sequencing Nat Genet. 2009 Oct;41(10):1061-7.
10. Cellamare A*, Catacchio CR*, Alkan C, Giannuzzi G, Antonacci F, Cardone MF, Della Valle G, Malig M, Rocchi M, Eichler
EE, Ventura M.* These authors contributed equally to this work. New insights into centromere organization and evolution
from the white-cheeked gibbon and marmoset Mol Biol Evol. 2009 Aug;26(8):1889-900.
9. Antonacci F, Kidd JM, Marques-Bonet T, Ventura M, Siswara P, Jiang Z, Eichler EE. Characterization of six human diseaseassociated inversion polymorphisms. Hum Mol Genet. 2009 Jul 15;18(14):2555-66.
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8. Smith JJ, Antonacci F, Eichler EE, Amemiya CT. Programmed loss of millions of base pairs from a vertebrate genome. Proc
Natl Acad Sci U S A. 2009 Jul 7;106(27):11212-7.
7. Bekpen C, Marques-Bonet T, Alkan C, Antonacci F, Leogrande MB, Ventura M, Kidd JM, Siswara P,
Howard JC, Eichler EE. Death and resurrection of the human IRGM gene.PLoS Genet. 2009 Mar;5(3):e1000403.
6. Buysse K*, Antonacci F*, Callewaert B, Loeys B, Fränkel U, Siu V, Mortier G, Speleman F, Menten B.
* These authors contributed equally to this work. Unusual 8p inverted duplication deletion with telomere capture from 8q.
Eur J Med Genet. 2009 Jan-Feb;52(1):31-6.
5. Buysse K, Crepel A, Menten B, Pattyn F, Antonacci F, Veltman JA, Larsen LA, Tümer Z, de Klein A, van de Laar I, Devriendt
K, Mortier G, Speleman F. Mapping of 5q35 chromosomal rearrangements within a genomically unstableregion. J Med
Genet. 2008 Oct;45(10):672-8.
4. Zody MC*, Jiang Z*, Fung HC, Antonacci F, Hillier LW, Cardone MF, Graves TA, Kidd JM, Cheng Z, Abouelleil A, Chen L,
Wallis J, Glasscock J, Wilson RK, Reily AD, Duckworth J, Ventura M, Hardy J, Warren WC, Eichler EE. * These authors
contributed equally to this work. Evolutionary toggling of the MAPT 17q21.31 inversion region. Nat Genet. 2008
Sep;40(9):1076-83.
3. Kidd JM, Cooper GM, Donahue WF, Hayden HS, Sampas N, Graves T, Hansen N, Teague B, Alkan C, Antonacci F, Haugen E,
Zerr T, Yamada NA, Tsang P, Newman TL, Tüzün E, Cheng Z, Ebling HM, Tusneem N, David R, Gillett W, Phelps KA, Weaver M,
Saranga D, Brand A, Tao W, Gustafson E, McKernan K, Chen L, Malig M, Smith JD, Korn JM, McCarroll SA, Altshuler DA,
Peiffer DA, Dorschner M, Stamatoyannopoulos J, Schwartz D, Nickerson DA, Mullikin JC, Wilson RK, Bruhn L, Olson MV, Kaul
R, Smith DR, Eichler EE. Mapping and sequencing of structural variation from eight human genomes. Nature. 2008 May
1;453(7191):56-64.
2. Vandesompele J, Michels E, De Preter K, Menten B, Schramm A, Eggert A, Ambros PF, Combaret V, Francotte N, Antonacci
F, De Paepe A, Laureys G, Speleman F, Van Roy N. Identification of 2 putative critical segments of 17q gain in neuroblastoma
through integrative genomics Int J Cancer. 2008 Mar 1;122(5):1177-82.
1. Ventura M*, Antonacci F*, Cardone MF, Stanyon R, D'Addabbo P, Cellamare A, Sprague LJ, Eichler EE, Archidiacono N,
Rocchi M. * These authors contributed equally to this work. Evolutionary formation of new centromeres in macaque.
Science. 2007 Apr 13;316(5822):243-6.
TEACHING EXPERIENCE
Genomics Academic year 2012-2013 - Assistant Professor University of Bari, Italy
Genetics and Genetic Engineering Academic years 2004-2007 - Teaching Assistant University of Bari, Italy
Genetics II Academic year 2004-2005 - Teaching Assistant University of Bari, Italy
Gene Therapy and Laboratory of Human Cytogenetics Academic year 2004-2005 - Teaching Assistant University of Bari, Italy
JACQUES S. BECKMANN
Jacques S. Beckmann recently joined the Swiss Institute of Bioinformatics as head of clinical bioinformatics. He was
previously appointed, from October 2002-sept 2012, Professor of Human Genetics and Director of the Department of
Medical Genetics at the Faculty of Biology and Medicine of the University of Lausanne (UNIL) as well as head of the Medical
Genetics Service of the Centre Hospitalier Universitaire Vaudois (CHUV). Previously, he held a chair as Full Professor at the
Department of Molecular Genetics at the Weizmann Institute of Science in Rehovot, Israel. Initially trained in molecular
genetics he then moved to genetics. In the 1980s, together with Prof. M. Soller from the Hebrew University, they pioneered
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the use of marker-assisted genetic improvement in plants and animals, focusing on Quantitative Trait Loci (QTLs). His
interest shifted in 1990 to human genetics with a move to Paris, where he held successively senior research positions at the
CEPH, Généthon (Evry), and finally the Centre National de Génotypage (CNG, Evry), where he was Deputy-Director. During
those years he collaborated with Prof. D. Cohen, J. Weissenbach, M. Lathrop, J. Dausset and others and contributed
significantly to the elaboration of genetic, physical and gene maps of the human genome, as well as to the positional cloning
of a number of disease loci, involved in muscular dystrophy, diabetes and other diseases. Prof. Beckmann has published over
340 scientific peer-reviewed articles in molecular genetics, genetics and genomics and with over 20’000 citations (excluding
self-citations)
has
an
ISI
H-index
of
75
(http://www.researcherid.com/rid/A-9772-2008;
see
also
http://scholar.google.com/citations?hl=en&user=vg5zISkAAAAJ); he served on the editorial boards of a number of scientific
journals and is or has been a board member of the ESHG, ENMC, Italian Telethon, HGVS committees, La Fondation des
Maladies Rares and the Jérôme Lejeune Foundation. His recent research interests also include genomic disorders as well as
the genetic basis of complex traits.
In addition to his scientific achievements, JSB was also involved in the setting up of various laboratories, such as his
own research group in Généthon. This was followed by the creation, together with Mark Lathrop, of the Centre National de
Génotypage in Evry. Since his joining Lausanne, he has been involved in the reconstruction and consolidation of the medical
genetics service at the hospital as well as the creation of a new department of Medical Genetics (altogether there are close
to 100 people working in these two units). Under his impulse and motivation the clinical diagnostic lab is now offering array
CGH as diagnostic tool, whereas the department developed a strong analytic team involved in genome-wide association
studies.
Significant publications (total citations on Jan 12, 2013):
1
Soller, M. and J.S. Beckmann (1983). Genetic Polymorphism in Varietal Identification and Genetic Improvement. Theor. appl.
Genet. 67: 25-33.
(Total citations 208).
2
Beckmann, J.S. and M. Soller (1983). Restriction Fragment Length Polymorphisms in Genetic Improvement: Methodologies,
Mapping
and
Costs.
Theor.
appl.
Genet.
67:
35-43.
3
Beckmann, J.S. (1988). Oligonucleotide Polymorphisms: A New Tool in Genomic Genetics. Bio/Technology 6: 1061-1064.
4
Beckmann, J.S. and M. Soller (1990). Toward a Unified Approach to Genetic Mapping of Eukaryotes Based on Sequence
Tagged Microsatellite Sites. Bio/Technology 8: 930-932.
5
Beckmann, J.S, I. Richard, D. Hillaire, O. Broux, C. Antignac, E. Bois, H. Cann, R. W. Cottingham Jr., N. Feingold, J. Feingold, J.
Kalil, G. M. Lathrop, A. Marcadet, M. Masset, C. Mignard, M.-R. Passos-Bueno, N. Pellerain, M. Zatz, J. Dausset, M. Fardeau
and D. Cohen (1991). A Gene for Limb-Girdle Muscular Dystrophy Maps to Chromosome 15 by Linkage. C. R. Acad. Sci. 312,
Série III: 141-148.
6
Beckmann, J.S. and J.L. Weber (1992). Survey of Human and Rat Microsatellites. Genomics 12: 627-631.
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Serikawa, T., T. Kuramoto, P. Hilbert, M. Mori, J. Yamada, C.J. Dubay, J.-L. Guenet, G.M. Lathrop, and J.S. Beckmann (1992).
Rat gene mapping using PCR-analyzed microsatellites. Genetics 131: 701-721.
8
Roberds, S.L., F. Leturcq, V. Allamand, F. Piccolo, M. Jeanpierre, R.D. Anderson, L.E. Lim, J.C. Lee, F.M.S. Tomé, N.B. Romero,
M. Fardeau, J.S. Beckmann, J.-C. Kaplan and K.P. Campbell (1994). Missense mutations in the adhalin gene linked to
autosomal recessive muscular dystrophy. Cell 78: 625-633.
9
Richard, I., O. Broux, V. Allamand, F. Fougerousse, N. Chiannilkuchaï, N. Bourg, L. Brenguier, C. Devaud, P. Pasturaud, C.
Roudaut, D. Hillaire, M.-R. Passos-Bueno, M. Zatz, J.A. Tischfield, M. Fardeau, C.E. Jackson, D. Cohen and J.S. Beckmann
(1995). A novel mechanism leading to muscular dystrophy: mutations in calpain 3 cause limb girdle muscular dystrophy type
2A. Cell 81: 27-40.
10
Bushby, K.M.D. and J.S. Beckmann (1995). Report of the 30th and 31st ENMC International Workshops on the limb-girdle
muscular dystrophies - proposal for a new nomenclature. Neuromuscular disorders 5: 337-343.
11
Richard, I and J.S. Beckmann (1995). How neutral are synonymous codon mutations. Nature Genetics 10: 259.
12
Lim, L.E., F. Duclos, O. Broux, N. Bourg, Y. Sunada, V. Allamand, J. Meyer, I. Richard, C. Moomaw, C. Slaughter, F.M.S. Tomé,
M. Fardeau, C.E. Jackson, J.S. Beckmann and K.P. Campbell (1995). ß-Sarcoglycan: characterization and role in limb-girdle
muscular dystrophy linked to 4q12. Nature Genetics 11: 257-265.
13
Schuler, G.D., M.S. Boguski, E.A. Stewart, L.D. Stein, G. Gyapay, K. Rice, R.E. White, P. Rodriguez-Tome, A. Aggarwal, E.
Bajorek, S. Bentolila, B.B. Birren, A. Butler, A.B. Castle, N. Chiannilkulchai, A. Chu, C. Clee, S. Cowles, P.J.R. Day, T. Dibling, N.
Drouot, I. Dunham, S. Duprat, C. East, C. Edwards, J.-B. Fan, N. Fang, C. Fizames, C. Garrett, L. Green, D. Hadley, M. Harris, P.
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Loos RJ, Lindgren CM, Li S, Wheeler E, Zhao JH, Prokopenko I, Inouye M, Freathy RM, Attwood AP, Beckmann JS, Berndt
SI; The Prostate, Lung, Colorectal, and Ovarian (PLCO) Cancer Screening Trial, Jacobs KB, Chanock SJ, Hayes RB,
Bergmann S, Bennett AJ, Bingham SA, Bochud M, Brown M, Cauchi S, Connell JM, Cooper C, Smith GD, Day I, Dina C, De
S, Dermitzakis ET, Doney AS, Elliott KS, Elliott P, Evans DM, Sadaf Farooqi I, Froguel P, Ghori J, Groves CJ, Gwilliam R,
Hadley D, Hall AS, Hattersley AT, Hebebrand J, Heid IM; KORA, Lamina C, Gieger C, Illig T, Meitinger T, Wichmann HE,
Herrera B, Hinney A, Hunt SE, Jarvelin MR, Johnson T, Jolley JD, Karpe F, Keniry A, Khaw KT, Luben RN, Mangino M,
Marchini J, McArdle WL, McGinnis R, Meyre D, Munroe PB, Morris AD, Ness AR, Neville MJ, Nica AC, Ong KK, O'Rahilly
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M; The SardiNIA Study, Scheet P, Sanna S, Abecasis GR, Albai G, Nagaraja R, Schlessinger D, Ganz Vogel CI, Wallace C,
Waterworth DM, Weedon MN; The Wellcome Trust Case Control Consortium, Willer CJ; FUSION, Jackson AU,
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Weedon MN, Lango H, Lindgren CM, Wallace C, Evans DM, Mangino M, Freathy RM, Perry JR, Stevens S, Hall AS,
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Control Consortium, Johnson T, Bergmann S, Beckmann JS, Vollenweider P, Waterworth DM, Mooser V, Palmer CN,
Morris AD, Ouwehand WH; Cambridge GEM Consortium, Zhao JH, Li S, Loos RJ, Barroso I, Deloukas P, Sandhu MS,
Wheeler E, Soranzo N, Inouye M, Wareham NJ, Caulfield M, Munroe PB, Hattersley AT, McCarthy MI, Frayling TM
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Zwolinksi S, Andrieux J, Estivill X, Gusella JF, Gustafsson O, Metspalu A, Scherer SW, Stefansson K, Blakemore AI,
,§,$
$
Beckmann JS , Froguel P . (2011). Mirror extreme BMI phenotypes associated with gene dosage at the 16p11.2 locus.
Nature 478 (7367): 97-102.
$
These
senior
authors
contributed
equally;
§
Corresponding
author.
30
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Pihur V, Vollenweider P, O'Reilly PF, Amin N, Bragg-Gresham JL, Teumer A, Glazer NL, Launer L, Hua Zhao J, Aulchenko
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Wild SH, Rudan I, Igl W, Milaneschi Y, Parker AN, Fava C, Chambers JC, Fox ER, Kumari M, Jin Go M, van der Harst P,
Hong Linda Kao W, Sjögren M, Vinay DG, Alexander M, Tabara Y, Shaw-Hawkins S, Whincup PH, Liu Y, Shi G, Kuusisto J,
Tayo B, Seielstad M, Sim X, Hoang Nguyen KD, Lehtimäki T, Matullo G, Wu Y, Gaunt TR, Charlotte Onland-Moret N,
Cooper MN, Platou CG, Org E, Hardy R, Dahgam S, Palmen J, Vitart V, Braund PS, Kuznetsova T, Uiterwaal CS, Adeyemo
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Prabhakaran D, Tripathy V, Langefeld CD, Rosengren A, Thelle DS, Maria Corsi A, Singleton A, Forrester T, Hilton G,
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EVAN E EICHLER
EDUCATION
1995 Ph.D. Department of Human Molecular Genetics, Baylor College of Medicine, Houston, TX
Thesis (David L. Nelson, Supervisor): AGG Interspersions within the FMR1 CGG Repeat: Models and Mechanisms of Triplet
Repeat Instability
1991 – Research Scholar, Deutscher Akademischer Austauschdienst
Ludwig-Maximilians Universität, Munich, Germany
1990 B.S. Department of Biology, University of Saskatchewan, Saskatoon, Canada
Honours Program in Biology
PROFESSIONAL EXPERIENCE
2008–Present Professor (with tenure) - Department of Genome Sciences, University of Washington (UW), Seattle, WA
2005–Present Howard Hughes Medical Institute Investigator
2004–Present Affiliate Professor - Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, WA
2004–2008 Associate Professor (with tenure) - Department of Genome Sciences, University of Washington, Seattle, WA
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2003–2004 Associate Professor (with tenure) - Department of Genetics, Case Western Reserve University (CWRU),
Cleveland, OH
2003–2004 Appointed Faculty Member - Cancer Center, Division of Medical Sciences, CWRU, Cleveland, OH
2002–2004 Director of Bioinformatics Core Facility - Department of Genetics, CWRU, Cleveland, OH
1999–2004 Appointed Faculty Member - University Hospitals of Cleveland, Cleveland, OH
1997–2003 Assistant Professor - Department of Genetics, Case Western Reserve University, Cleveland, OH
1997 Research Affiliate - Department of Human Genetics, Roswell Park Cancer Institute, Buffalo, NY
1995–1997 Postdoctoral Fellow, Biology and Biotechnology Research Program - Lawrence Livermore National Laboratory,
Livermore, CA (Harvey Mohrenweiser, Supervisor)
TEACHING EXPERIENCE
2009–2013 GENOME 351 “Human Genetics - The Individual and Society” Lecturer (13 contact hours/5 weeks)
GENOME 465/565 “Advanced Human Genetics” Lecturer (13 contact hours/5 weeks)
Department of Genome Sciences, University of Washington
2008 GENOME 371 “Introductory Genetics” Lecturer (25 contact hours/10 weeks)
GENOME 465 “Advanced Human Genetics” Lecturer (13 contact hours/5 weeks)
2007 GENOME 371 “Introductory Genetics” Faculty Shadow (50 contact hrs/10 weeks)
2006–2007 GENOME 465/565 “Advanced Human Genetics”Evan Eichler, Ph.D. 5
Lecturer: Genome Structure, Disease, Diversity and Evolution—a 10-week course co-taught with Mary-Claire King (13
contact hrs/5 weeks)
2006 PATHOLOGY 530 “Cytogenetics” Lecturer: Recurrent Microdeletion and Microduplication Syndromes (1 contact hr)
2005–2006 GENOME 580 “Ethics in Biomedical Research” Lecturer: Handling Data (1 contact hr)
2004 GENOME 511 “Genomics” Lecturer: Genome Technology and Array Comparative Genomic Hybridization
Department of Genome Sciences, University of Washington (2 contact hrs/year)
1997–2004 GENE 500/504 “Advanced Eukaryotic Genetics” Lecturer and Section Leader of course module: Population,
Quantitative and Evolutionary Genetics. Topics: Physical Mapping, Genome Organization, Human Molecular Evolution and
Repeat Structure Introductory course for all 2nd year Genetics graduate students
Department of Genetics, Case Western Reserve University (8 contact hrs/year)
2000–2004 GENE 511 “Critical Analysis of Scientific Literature” Discussion Leader
1998–2004 MED school Core Academic Program, Genetics core small group sessions
Discussion Leader: Mendelian Inheritance, Linkage, Cytogenetics, Triplet Repeat Diseases, Cancer Genetics
Genetics core small group sessions for medical students (4 contact hrs/year)
2001, 2003 GENE 508 “Bioinformatics and Computational Biology”
Course Organizer and Lecturer. Course designed to provide an understanding of the theory and application of computational
methods for molecular biology research. Twenty-two lectures covering DNA sequence, computational genomics, protein,
gene expression and phylogenetic analysis. For every hour of lecture, there are 2-3 hours of problem solving exercises within
the computational laboratory.
Advanced course for upper year Genetics graduate students. Department of Genetics, Case Western Reserve University (62
contact hrs/year)
2000–2001 GENE 458 “Introduction to Computational Biology”
Lecturer: Computational Genomics
Introductory course offering crossover training between Genetics and EECS
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1998, 2000 GENE 510 “Advanced Human Genetics” Lecturer: Non-Mendelian Inheritance, Triplet Repeat Instability and
Disease, Proteomic and Genomic Approaches, Single-Nucleotide Polymorphism and Phenotype Association
Advanced course for upper year Genetics graduate students
1999–2002 CBIO 453 “Correlated Curriculum in Cell and Molecular Biology”, C3MB Lecturer: Bioinformatics, Physical
Mapping, Genomics Introductory course for all incoming BSTP graduate students
Basic Science Training Research Program, CWRU (4 contact hrs/year)
PUBLICATIONS
(268 peer-reviewed publications: 134 first or corresponding senior-author publications
GUY FROYEN
Human Genome Laboratory, Dept. of Human Genetics, University of Leuven, VIB, Belgium
CARREER HISTORY
1992-1996: Post-doctoral researcher, Immunobiology, University of Leuven, Belgium.
1997-1999: Research Scientist, Janssen Pharmaceutica, Johnson&Johnson, Belgium.
2000-2008: Project Leader XLID group, Human Genome Laboratory, VIB, Leuven, Belgium
2009: Staff Scientist VIB, Leuven, Belgium.
2010: Senior staff Scientist VIB, Leuven, Belgium.
2006: Assistant professor University of Leuven, Belgium.
2009: Associate professor University of Leuven, Belgium.
SCIENTIFIC INTEREST
Project leader of the X chromosome-linked Intellectual Disability (XLID) group in the Human Genome Laboratory (Dept. of
Human Genetics). Research focuses on the identification and functional characterization of genetic causes or mechanisms
that result in cognitive impairment. This aim is accomplished through the genetic study of patients with a mental disability
with or without additional clinical features. The focus of my group is on the X chromosome since more males than females
are affected and many X-linked families remain unsolved. For this goal we closely collaborate with clinical groups for patient
material as well as with research teams for detailed functional analyses. The research has a particular focus on the
introduction and application of emerging technologies such as array-CGH, ChIP and next-generation sequencing applications.
A particular focus is on unraveling the molecular mechanisms underlying rearrangements that result in disease.
Part of Euro-MRX Consortium.
SELECTED PUBLICATIONS (2005-2012)
Froyen G, Belet S, Martinez F, Santos-Reboucas CB, Declercq M, et al. (2012) Copy-Number Gains of HUWE1 Due to
Replication- and Recombination-Based Rearrangements. Am J Hum Genet 91: 252-264.
Weuts A, Voet T, Verbeeck J, Lambrechts N, Wirix E, et al. (2012) Telomere length homeostasis and telomere position
effect on a linear human artificial chromosome are dictated by the genetic background. Nucleic Acids Res 40: 11477-11489.
Huang L, Jolly LA, Willis-Owen S, Gardner A, Kumar R, et al. (2012) A noncoding, regulatory mutation implicates HCFC1 in
nonsyndromic intellectual disability. Am J Hum Genet 91: 694-702.
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Vandewalle J, Van Esch H, Govaerts K, Verbeeck J, Zweier C, et al. (2009) Dosage-dependent severity of the phenotype in
patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination. Am J
Hum Genet 85: 809-822.
Froyen G, Corbett M, Vandewalle J, Jarvela I, Lawrence O, et al. (2008) Submicroscopic duplications of the hydroxysteroid
dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. Am J Hum Genet 82:
432-443.
Bauters M, Van Esch H, Friez MJ, Boespflug-Tanguy O, Zenker M, et al. (2008) Nonrecurrent MECP2 duplications
mediated by genomic architecture-driven DNA breaks and break-induced replication repair. Genome Res 18: 847-858.
Froyen G, Van Esch H, Bauters M, Hollanders K, Frints SG, et al. (2007) Detection of genomic copy number changes in
patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of
XLMR genes. Hum Mutat 28: 1034-1042.
Lahortiga I, De Keersmaecker K, Van Vlierberghe P., Graux C, Cauwelier B, et al. (2007) Duplication of the MYB oncogene
in T cell acute lymphoblastic leukemia. Nat Genet 39: 593-595.
Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, et al. (2005) Duplication of the MECP2 Region Is a Frequent
Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males. Am J Hum Genet 77: 442-453.
SEBASTIEN JACQUEMONT
EDUCATION/TRAINING
INSTITUTION AND LOCATION
Saint Genes High School
Victor Segalen University,
Bordeaux II, France
Victor Segalen University,
Bordeaux II, France
University of Nantes, Medical
School
Pitie Salpetrière Hospital,
University Pierre et Marie
Curie, Paris 6
University of Nantes, France
University of Nantes, France
Rene Descartes University,
Paris, France
DEGREE
(if applicable)
Baccalaureate
BS
YEAR(s)
FIELD OF STUDY
1990
1992
Major: Math Physics
Biology-Physiology
BS
1992
Nuclear medicine
Master Science 1
1996 -1998
Human genetics
Post Graduate degree
1998
Neuromuscular disorders
Medical Doctor, MD
Medical Specialty /FMH
equivalent.
Master Science 2
2000
2003
Medicine.
Medical genetics
2004
Developmental Genetics
Positions and Employment
1996-1999 : Medical Residency, Medical Genetics, University hospital, Nantes – France.
2000 : Medical Residency, Medical Genetics, Necker – Enfant Malade University hospital, Paris
2000-03 : Research Fellow, Developmental Pediatrics, Mind Institute, University of California Davis Medical Center.
2004-06 : Fellowship, Medical Genetics, University hospital, Nantes – France.
2006-ongoing : Médecin Associé” Department of medical genetics, CHUV Lausanne.
2012 : Visiting scholar, Department of Genome Science, University of Washington, Seattle.
Other Experience and Professional Memberships
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(French) Board certified in medical genetics.
Member of the American Association of Human genetics.
Member of the European Association of Human genetics.
1. Christelle Golzio , Jason Willer , Michael Talkowski , Edwin Oh , Yu Taniguchi , Jacquemont, S , Reymond A , Sun M, Sawa
A, Gusella J , Kamiya A , Beckmann JS, Katsanis K. KCTD13 is a major driver of mirrored neuroanatomical phenotypes
associated with the 16p11.2 CNV. Nature 2012 May 16;485.
2. Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z, Martinet D, Shen Y, Valsesia A, Beckmann ND,
Thorleifsson G, Belfiore M, Bouquillon S, Campion D, de Leeuw N, de Vries BB, Esko T, Fernandez BA, Fernández-Aranda F,
Fernández-Real JM, Gratacòs M, Guilmatre A, Hoyer J, Jarvelin MR, Frank Kooy R, Kurg A, Le Caignec C, Männik K, Platt OS,
Sanlaville D, Van Haelst MM, Villatoro Gomez S, Walha F, Wu BL, Yu Y, Aboura A, Addor MC, Alembik Y, Antonarakis SE,
Arveiler B, Barth M, Bednarek N, Béna F, Bergmann S, Beri M, Bernardini L, Blaumeiser B, Bonneau D, Bottani A, Boute O,
Brunner HG, Cailley D, Callier P, Chiesa J, Chrast J, Coin L, Coutton C, Cuisset JM, Cuvellier JC, David A, de Freminville B,
Delobel B, Delrue MA, Demeer B, Descamps D, Didelot G, Dieterich K, Disciglio V, Doco-Fenzy M, Drunat S, Duban-Bedu B,
Dubourg C, El-Sayed Moustafa JS, Elliott P, Faas BH, Faivre L, Faudet A, Fellmann F, Ferrarini A, Fisher R, Flori E, Forer L,
Gaillard D, Gerard M, Gieger C, Gimelli S, Gimelli G, Grabe HJ, Guichet A, Guillin O, Hartikainen AL, Heron D, Hippolyte L,
Holder M, Homuth G, Isidor B, Jaillard S, Jaros Z, Jiménez-Murcia S, Joly Helas G, Jonveaux P, Kaksonen S, Keren B, KlossBrandstätter A, Knoers NV, Koolen DA, Kroisel PM, Kronenberg F, Labalme A, Landais E, Lapi E, Layet V, Legallic S, Leheup B,
Leube B, Lewis S, Lucas J, Macdermot KD, Magnusson P, Marshall C, Mathieu-Dramard M, McCarthy MI, Meitinger T,
Antonietta Mencarelli M, Merla G, Moerman A, Mooser V, Morice-Picard F, Mucciolo M, Nauck M, Coumba Ndiaye N,
Nordgren A, Pasquier L, Petit F, Pfundt R, Plessis G, Rajcan-Separovic E, Paolo Ramelli G, Rauch A, Ravazzolo R, Reis A, Renieri
A, Richart C, Ried JS, Rieubland C, Roberts W, Roetzer KM, Rooryck C, Rossi M, Saemundsen E, Satre V, Schurmann C,
Sigurdsson E, Stavropoulos DJ, Stefansson H, Tengström C, Thorsteinsdóttir U, Tinahones FJ, Touraine R, Vallée L, van
Binsbergen E, Van der Aa N, Vincent-Delorme C, Visvikis-Siest S, Vollenweider P, Völzke H, Vulto-van Silfhout AT, Waeber G,
Wallgren-Pettersson C, Witwicki RM, Zwolinksi S, Andrieux J, Estivill X, Gusella JF, Gustafsson O, Metspalu A, Scherer SW,
Stefansson K, Blakemore AI, Beckmann JS, Froguel P. Mirror extreme BMI phenotypes associated with gene dosage at the
16p11.2 locus. Nature 2011 Aug 31. doi: 10.1038
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3. Walters RG*, Jacquemont S*, (*shared 1st authorship) Valsesia A, de Smith AJ, Martinet D, Andersson J, Falchi M, Chen F,
Andrieux J, Lobbens S, Delobel B, Stutzmann F, El-Sayed Moustafa JS, Chèvre JC, Lecoeur C, Vatin V, Bouquillon S, Buxton JL,
Boute O, Holder-Espinasse M, Cu isset JM, Lemaitre MP, Ambresin AE, Brioschi A, Gaillard M, Giusti V, Fellmann F, Ferrarini
A, Hadjikhani N, Campion D, Guilmatre A, Goldenberg A, Calmels N, Mandel JL, Le Caignec C, David A, Isidor B, Cordier MP,
Dupuis-Girod S, Labalme A, Sanlaville D, Béri-Dexheimer M, Jonveaux P, Leheup B, Ounap K, Bochukova EG, Henning E,
Keogh J, Ellis RJ, Macdermot KD, van Haelst MM, Vincent-Delorme C, Plessis G, Touraine R, Philippe A, Malan V, MathieuDramard M, Chiesa J, Blaumeiser B, Kooy RF, Caiazzo R, Pigeyre M, Balkau B, Sladek R, Bergmann S, Mooser V, Waterworth
D, Reymond A, Vollenweider P, Waeber G, Kurg A, Palta P, Esko T, Metspalu A, Nelis M, Elliott P, Hartikainen AL, McCarthy
MI, Peltonen L, Carlsson L, Jacobson P, Sjöström L, Huang N, Hurles ME, O'Rahilly S, Farooqi IS, Männik K, Jarvelin MR, Pattou
F, Meyre D, Walley AJ, Coin LJ, Blakemore AI, Froguel P, Beckmann JS. A new highly penetrant form of obesity due to
deletions on chromosome 16p11.2. Nature. Feb 4;463(7281):671-5.
4. Jacquemont S, Curie A, des Portes V, Torrioli MG, Berry-Kravis E, Hagerman RJ, Ramos FJ, Cornish K, He Y, Paulding C, Neri
G, Chen F, Hadjikhani N, Martinet D, Meyer J, Beckmann JS, Delange K, Brun A, Bussy G, Gasparini F, Hilse T, Floesser A,
Branson J, Bilbe G, Johns D, Gomez-Mancilla B. Epigenetic Modification of the FMR1 Gene in Fragile X Syndrome Is
Associated with Differential Response to the mGluR5 Antagonist AFQ056. Science, Translational Medicine. 2011 Jan
5;3(64):64ra1.
5. Jacquemont, S.et al. Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1. Lancet
Neurol, 2007. 6(1): p. 45-55.
6. Jacquemont, S. et al. Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population.
JAMA 2004. 291(4): p. 460-9.
Other publications in chronological order :
7. Zufferey F, Sherr EH, Beckmann ND,Hanson E,Maillard AM,Hippolyte L, Macé A, Ferrari C, Kutalik Z, Andrieux J,Aylward E,
Barker M, Bernier R, Bouquillon S, Conus P, Delobel B, Faucett WA, Goin-Kochel RP, Grant E, Harewood L, Hunter JV, Lebon
S, Ledbetter DH, Martin CL, Mannik K, Martinet D, Mukherjee P, Ramocki MB, Spence SJ, Steinman KJ, Tjernagel J, on behalf
of the Simons VIP Consortium & on behalf of the 16p11.2 European Consortium, Spiro J, Reymond A, Beckmann JS, Chung
WK, Jacquemont S. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. J Med
Genet 2012 Oct;49(10):660-668.
8. Battistella G, Niederhauser J, Fornari E, Hippolyte L, Gronchi Perrin A, Lesca G, Forzano F, Hagmann P, Vingerhoets FJ,
Draganski B, Maeder P, Jacquemont S. Brain structure in asymptomatic FMR1 premutation carriers at risk for fragile Xassociated tremor/ataxia syndrome. Neurobiol Aging. 9. Marek D, Papin S, Ellefsen K, Niederhauser J, Isidor N, Ransijn A,
Poupon L, Spertini F, Pantaleo G, Bergmann S, Beckmann JS, Jacquemont S, Tanackovic G. Carriers of the fragile X mental
retardation 1 (FMR1) premutation allele present with increased levels of cytokine IL-10. J Neuroinflammation. 2012 Oct
13;9(1):238.
10. Phan-Hug F, Beckmann JS, Jacquemont S, Genetic testing in patients with obesity. Best Practice & Research Clinical
Endocrinology & Metabolism, 2012 Apr;26(2):133-43.
11. Tassone F, Greco CM, Hunsaker MR, Seritan AL, Berman RF, Gane LW, Jacquemont S, Basuta K, Jin LW, Hagerman PJ,
Hagerman RJ. Neuropathological, Clinical, and Molecular Pathology in Female Fragile X Premutation Carriers with and
without FXTAS. Genes Brain Behav. 2012 Mar 30. doi: 10.1111/j.1601-183X.2012.00779.x. Epub ahead of print
12. Anderson BH, Kasher PR, Mayer J, Szynkiewicz M, Jenkinson EM, Bhaskar SS, Urquhart JE, Daly SB, Dickerson JE,
O'Sullivan J, Leibundgut EO, Muter J, Abdel-Salem GM, Babul-Hirji R, Baxter P, Berger A, Bonafé L, Brunstom-Hernandez JE,
Buckard JA, Chitayat D, Chong WK, Cordelli DM, Ferreira P, Fluss J, Forrest EH, Franzoni E, Garone C, Hammans SR, Houge G,
Hughes I, Jacquemont S, Jeannet PY, Jefferson RJ, Kumar R, Kutschke G, Lundberg S, Lourenço CM, Mehta R, Naidu S, Nischal
KK, Nunes L, Ounap K, Philippart M, Prabhakar P, Risen SR, Schiffmann R, Soh C, Stephenson JB, Stewart H, Stone J, Tolmie JL,
van der Knaap MS, Vieira JP, Vilain CN, Wakeling EL, Wermenbol V, Whitney A, Lovell SC, Meyer S, Livingston JH, Baerlocher
GM, Black GC, Rice GI, Crow YJ. Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats
plus. Nat Genet. 2012 Jan 22;44(3):338-42. doi: 10.1038/ng.1084.
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13. Daniel PB, Morgan T, Alanay Y, Bijlsma E, Cho TJ, Cole T, Collins F, David A, Devriendt K, Faivre L, Ikegawa S, Jacquemont
S, Jesic M, Krakow D, Liebrecht D, Maitz S, Marlin S, Morin G, Nishikubo T, Nishimura G, Prescott T, Scarano G, Shafeghati Y,
Skovby F, Tsutsumi S, Whiteford M, Zenker M, Robertson SP. Disease-associated mutations in the actin-binding domain of
filamin B cause cytoplasmic focal accumulations correlating with disease severity. Hum Mutat. 2012 Apr;33(4):665-73. doi:
10.1002/humu.22012. Epub 2012 Jan 23.
14. Le Goff C, Mahaut C, Abhyankar A, Le Goff W, Serre V, Afenjar A, Destrée A, di Rocco M, Héron D, Jacquemont S, Marlin
S, Simon M, Tolmie J, Verloes A, Casanova JL, Munnich A, Cormier-Daire V. Mutations at a single codon in Mad homology 2
domain of SMAD4 cause Myhre syndrome Nat Genet. 2011 Dec 11;44(1):85-8.
15. Daniel PB, Morgan T, Alanay Y, Bijlsma E, Cho TJ, Cole T, Collins F, David A, Devriendt K, Faivre L, Ikegawa S, Jacquemont
S, Jesic M, Krakow D, Liebrecht D, Maitz S, Marlin S, Morin G, Nishikubo T, Nishimura G, Prescott T, Scarano G, Shafeghati Y,
Skovby F, Tsutsumi S, Whiteford M, Zenker M, Robertson SP. Disease-associated mutations in the actin-binding domain of
filamin B cause cytoplasmic focal accumulations correlating with disease severity. Hum Mutat. 2011 Dec 20.
16. Jacquemont S, Birnbaum S, Redler S, Steinbach P, Biancalana V. Clinical utility gene card for: fragile X mental retardation
syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency. Eur J Hum
Genet. 2011 May [Epub ahead of print].
17. Katie Snape K, Hanks S, Ruark E, Barros-Núňez P, Elliott A, Murray A, Lane AH, Shannon N, Callier P, Chitayat D, ClaytonSmith J, FitzPatrick D, Gisselsson D, Jacquemont S, Asakura-Hay K, Micale M, Tolmie J, Turnpenny P, Wright M, Douglas J and
Rahman N. Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. Nat Genet. 2011 Jun;43(6):527-9
18. Isidor B, Lindenbaum P, Pichon O, Bézieau S, Dina C, Jacquemont S et al. Truncating mutations in the last exon of
NOTCH2 cause a rare skeletal disorder with osteoporosis. Nat Genet. 2011 Mar 6;43(4):306-8.
19. van Bon BW, Balciuniene J, Fruhman G, Nagamani SC, Broome DL, Cameron E, Martinet D, Roulet E, Jacquemont S,
Beckmann JS, Irons M, Potocki L, Lee B, Cheung SW, Patel A, Bellini M, Selicorni A, Ciccone R, Silengo M, Vetro A, Knoers NV,
de Leeuw N, Pfundt R, Wolf B, Jira P, Aradhya S, Stankiewicz P, Brunner HG, Zuffardi O, Selleck SB, Lupski JR, de Vries BB. Eur
J Hum Genet. 2011 Apr;19(4):400-8. Epub 2011 Jan 19.
20. Krahn M, Goicoechea M, Hanisch F, Groen E, Bartoli M, Pécheux C, Garcia-Bragado F, Leturcq F, Jeannet PY, Lobrinus JA,
Jacquemont S, Strober J, Urtizberea JA, Saenz A, Bushby K, Lévy N, Lopez de Munain A. Eosinophilic infiltration related to
CAPN3 mutations: a pathophysiological component of primary calpainopathy? Clin Gent. 2010 Dec 27. Epub ahead of print.
21. Newman CJ, Jacquemont S, Theumann N, Jeannet PY Familial aplasia of the trapezius muscle: clinical and MRI findings.
Acta Paediatr. 2010 Oct 5.
22. Rieubland C, Jacquemont S, Mittaz L, Osterheld MC, Vial Y, Superti-Furga A, Unger S, Bonafé L. Phenotypic and molecular
characterization of a novel case of Dyssegmental dysplasia, Silverman-Handmaker type. Eur J Med Genet. 2010 Jun 10.
23. Ballhausen D, Guerry F, Hahn D, Schaller A, Nuoffer JM, Bonafe L, Jacquemont, S. Mitochondrial tRNA(Leu(UUR))
mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study.
J Inherit Metab Dis. May 11.
24. Orrico A, Galli L, Faivre L, Clayton-Smith J, Azzarello-Burri SM, Hertz JM, Jacquemont S, Taurisano R, Arroyo Carrera I,
Tarantino E, Devriendt K, Melis D, Thelle T, Meinhardt U, Sorrentino V. Aarskog-Scott syndrome: clinical update and report of
nine novel mutations of the FGD1 gene. Am J Med Genet A. Feb;152A(2):313-8.
25. Bellavia M, Von Der Weid N, Peddes C, Jacquemont S, Liebaers I, Hohlfeld P, et al. Preimplantation genetic diagnosis
(PGD) for HLA typing: bases for setting up an open international collaboration when PGD is not available. Fertil Steril. Jan 12.
26. Sarfati J, Guiochon-Mantel A, Rondard P, Arnulf I, Garcia-Piñero A, Wolczynski S, Brailly-Tabard S, Bidet M, Ramos-Arroyo
M, Mathieu M, Lienhardt-Roussie A, Morgan G, Turki Z, Bremont C, Lespinasse J, Du Boullay H, Chabbert-Buffet N,
Jacquemont S. Reach G, De Talence N, Tonella P, Conrad B, Despert F, Delobel B, Brue T, Bouvattier C, Cabrol S, Pugeat M,
Murat A, Bouchard P, Hardelin JP, Dodé C, Young J. A comparative phenotypic study of kallmann syndrome patients carrying
monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes. J Clin Endocrinol Metab.
Feb;95(2):659-69.
27. Wirojanan, J., S. Jacquemont, R. Diaz, S. Bacalman, T. Anders, R. Hagerman, and B. Goodlin-Jones, The Efficacy of
Melatonin for Sleep Problems in Children with Autism, Fragile X Syndrome, or Autism and Fragile X Syndrome. J of Clinical
Sleep Medicine, 2009. in press.
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28. Van der Aa, N., L. Rooms, G. Vandeweyer, J. van den Ende, E. Reyniers, M. Fichera, C. Romano, B. Delle Chiaie, G.
Mortier, B. Menten, A. Destree, I. Maystadt, K. Mannik, A. Kurg, T. Reimand, D. McMullan, C. Oley, L. Brueton, E.M. Bongers,
B.W. van Bon, R. Pfund, S. Jacquemont et al. Fourteen new cases contribute to the characterization of the 7q11.23
microduplication syndrome. Eur J Med Genet, 2009.
29. Morel, A.S., N. Joris, R. Meuli, S. Jacquemont, D. Ballhausen, L. Bonafe, S. Fattet, and J.F. Tolsa, Early neurological
impairment and severe anemia in a newborn with Pearson syndrome. Eur J Pediatr, 2009. 168(3): p. 311-5.
30. Mathieu, S., Z. Kutalik, S. Bergmann, M. Verceletto, P. Renou, E. Lamy, F. Vingerhoets, G. Di Virgilio, P. Boisseau, S.
Bezieau, L. Pasquier, J. Rival, J. Beckmann, P. Damier, and S. Jacquemont, The penetrance of marked cognitive impairment in
older male carriers of the FMR1 Gene Premutation. J Med Genet, 2009(accepted).
31. Cornish, K.M., C.S. Kogan, L. Li, J. Turk, S. Jacquemont, and R.J. Hagerman, Lifespan changes in working memory in fragile
X premutation males. Brain Cogn, 2009. 69(3): p. 551-8.
32. Leroy, C., C. Fouveaut, S. Leclercq, S. Jacquemont, H.D. Boullay, J. Lespinasse, M. Delpech, J.M. Dupont, J.P. Hardelin, and
C. Dode, Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome. Eur J Hum Genet, 2008.
16(7): p. 865-8.
33. Leehey, M.A., E. Berry-Kravis, C.G. Goetz, L. Zhang, D.A. Hall, L. Li, C.D. Rice, R. Lara, J. Cogswell, A. Reynolds, L. Gane, S.
Jacquemont, F. Tassone, J. Grigsby, R.J. Hagerman, and P.J. Hagerman, FMR1 CGG repeat length predicts motor dysfunction
in premutation carriers. Neurology, 2008. 70(16 Pt 2): p. 1397-402.
34. Isidor, B., V. Cormier-Daire, M. Le Merrer, T. Lefrancois, A. Hamel, C. Le Caignec, A. David, and S. Jacquemont, Autosomal
dominant spondylocarpotarsal synostosis syndrome: phenotypic homogeneity and genetic heterogeneity. Am J Med Genet
A, 2008. 146A(12): p. 1593-7.
35. Cornish, K.M., L. Li, C.S. Kogan, S. Jacquemont, et al. Age-dependent cognitive changes in carriers of the fragile X
syndrome. Cortex, 2008. 44(6): p. 628-36.
36. Rieubland, C., D. Vidaud, and S. Jacquemont, [NF1: Molecular testing in clinical practice]. Ann Dermatol Venereol, 2007.
134(8-9): p. 678-81.
37. Pitchon, E.M., F. Cachat, S. Jacquemont, et al. Patient with Fanconi Syndrome (FS) and retinitis pigmentosa (RP) caused
by a deletion and duplication of mitochondrial DNA (mtDNA). Klin Monatsbl Augenheilkd, 2007. 224(4): p. 340-3.
38. Leehey, M.A., E. Berry-Kravis, S.J. Min, D.A. Hall, C.D. Rice, L. Zhang, J. Grigsby, C.M. Greco, A. Reynolds, R. Lara, J.
Cogswell, S. Jacquemont, D.R. Hessl, F. Tassone, R. Hagerman, and P.J. Hagerman, Progression of tremor and ataxia in male
carriers of the FMR1 premutation. Mov Disord, 2007. 22(2): p. 203-6.
39. Jacquemont, S.et al. Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1. Lancet
Neurol, 2007. 6(1): p. 45-55.
40. Grigsby, J., A.G. Brega, M.A. Leehey, G.K. Goodrich, S. Jacquemont et al. Impairment of executive cognitive functioning in
males with fragile X-associated tremor/ataxia syndrome. Mov Disord, 2007. 22(5): p. 645-50.
41. Berry-Kravis, E., L. Abrams, S.M. Coffey, D.A. Hall, C. Greco, L.W. Gane, J. Grigsby, J.A. Bourgeois, B. Finucane, S.
Jacquemont et al. Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines. Mov
Disord, 2007. 22(14): p. 2018-30, quiz 2140.
42. Jacquemont, S. et al. Size bias of fragile X premutation alleles in late-onset movement disorders. J Med Genet, 2006.
43(10): p. 804-9.
43. Hall, D.A., R.J. Hagerman, P.J. Hagerman, S. Jacquemont, and M.A. Leehey, Prevalence of FMR1 repeat expansions in
movement disorders. A systematic review. Neuroepidemiology, 2006. 26(3): p. 151-5.
44. Grigsby, J., M.A. Leehey, S. Jacquemont, J.A. Brunberg, R.J. Hagerman, R. Wilson, J.H. Epstein, C.M. Greco, F. Tassone,
and P.J. Hagerman, Cognitive impairment in a 65-year-old male with the fragile X-associated tremor-ataxia syndrome
(FXTAS). Cogn Behav Neurol, 2006. 19(3): p. 165-71.
45. Grigsby, J., A.G. Brega, S. Jacquemont, et al. Impairment in the cognitive functioning of men with fragile X-associated
tremor/ataxia syndrome (FXTAS). J Neurol Sci, 2006. 248(1-2): p. 227-33.
46. Gissen, P., L. Tee, C.A. Johnson, E. Genin, A. Caliebe, D. Chitayat, C. Clericuzio, J. Denecke, M. Di Rocco, B. Fischler, D.
FitzPatrick, A. Garcia-Cazorla, D. Guyot, S. Jacquemont, S. Koletzko, B. Leheup, H. Mandel, M.T. Sanseverino, R.H. Houwen,
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P.J. McKiernan, D.A. Kelly, and E.R. Maher, Clinical and molecular genetic features of ARC syndrome. Hum Genet, 2006.
120(3): p. 396-409.
47. Buisson, P., M.D. Leclair, S. Jacquemont, G. Podevin, C. Camby, A. David, and Y. Heloury, Cutaneous lipoma in children: 5
cases with Bannayan-Riley-Ruvalcaba syndrome. J Pediatr Surg, 2006. 41(9): p. 1601-3.
48. Le Caignec, C., M. Boceno, P. Saugier-Veber, S. Jacquemont, M. Joubert, A. David, T. Frebourg, and J.M. Rival, Detection
of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations. J Med
Genet, 2005. 42(2): p. 121-8.
49. Jacquemont, S. et al. Spastic paraparesis, cerebellar ataxia, and intention tremor: a severe variant of FXTAS? J Med
Genet, 2005. 42(2): p. e14.
50. Jacquemont, S., Screening for FXTAS. Eur J Hum Genet, 2005. 13(1): p. 2-3.
51. Hall, D.A., E. Berry-Kravis, S. Jacquemont, C.D. Rice, J. Cogswell, L. Zhang, R.J. Hagerman, P.J. Hagerman, and M.A.
Leehey, Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS). Neurology, 2005.
65(2): p. 299-301.
52. Le Caignec, C., M. Boceno, S. Jacquemont, S. Nguyen The Tich, J.M. Rival, and A. David, Inherited ring chromosome 8
without loss of subtelomeric sequences. Ann Genet, 2004. 47(3): p. 289-96.
53. Jacquemont, S. et al. Aging in individuals with the FMR1 mutation. Am J Ment Retard, 2004. 109(2): p. 154-64.
54. Hagerman, R.J., B.R. Leavitt, F. Farzin, S. Jacquemont, C.M. Greco, J.A. Brunberg, F. Tassone, D. Hessl, S.W. Harris, L.
Zhang, T. Jardini, L.W. Gane, J. Ferranti, L. Ruiz, M.A. Leehey, J. Grigsby, and P.J. Hagerman, Fragile-X-associated
tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. Am J Hum Genet, 2004. 74(5): p. 1051-6.
55. Garcia Arocena, D., E.D. Louis, F. Tassone, T.C. Gilliam, R. Ottman, S. Jacquemont, and P.J. Hagerman, Screen for
expanded FMR1 alleles in patients with essential tremor. Mov Disord, 2004. 19(8): p. 930-3.
56. Leehey, M.A., R.P. Munhoz, A.E. Lang, J.A. Brunberg, J. Grigsby, C. Greco, S. Jacquemont, F. Tassone, A.M. Lozano, P.J.
Hagerman, and R.J. Hagerman, The fragile X premutation presenting as essential tremor. Arch Neurol, 2003. 60(1): p. 11721.
57. Jacquemont, S.et al. Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates.
Am J Hum Genet, 2003. 72(4): p. 869-78.
58. Jacquemont, S. et al, High risk of malignancy in mosaic variegated aneuploidy syndrome. Am J Med Genet, 2002. 109(1):
p. 17-21; discussion 16.
59. Greco, C.M., R.J. Hagerman, F. Tassone, A.E. Chudley, M.R. Del Bigio, S. Jacquemont, M. Leehey, and P.J. Hagerman,
Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain, 2002. 125(Pt 8):
p. 1760-71.
60. Faure, A., A. David, F. Moussally, M. Khalfallah, S. Jacquemont, O. Hamel, M. Conti, A. Hamel, S. Raoul, and R. Robert,
Hajdu-Cheney syndrome and syringomyelia. Case report. J Neurosurg, 2002. 97(6): p. 1441-6.
61. Faivre, L., V. Cormier-Daire, J.M. Lapierre, L. Colleaux, S. Jacquemont, D. Genevieve, P. Saunier, A. Munnich, C. Turleau, S.
Romana, M. Prieur, M.C. De Blois, and M. Vekemans, Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like
phenotype. J Med Genet, 2002. 39(8): p. 594-6.
62. Brunberg, J.A., S. Jacquemont, et al. Fragile X premutation carriers: characteristic MR imaging findings of adult male
patients with progressive cerebellar and cognitive dysfunction. AJNR Am J Neuroradiol, 2002. 23(10): p. 1757-66.
63. Jacquemont, S. et al , Familial congenital pulmonary lymphangectasia, non-immune hydrops fetalis, facial and lower limb
lymphedema: confirmation of Njolstad's report. Am J Med Genet, 2000. 93(4): p. 264-8.
64. Andre, M.T., S. Jacquemont, et al. Dig Dis Sci, 1998. 43(6): p. 1339-40.
FRANK KOOY
ACADEMIC DEGREE
MSc in Biology, University of Utrecht, 1985
PhD (in Molecular Parasitology), Universiteit of Utrecht, 1991 (promotores: Prof. Dr. D. Zwart, Prof. Dr. M. Van der Ploeg)
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Past positions: - Assistant professor in Veterinary Parasitology, University of Utrecht (chair: Prof. Dr. D. Zwart, Prof. Dr.
A.W.C.A. Cornelissen), 1986-1991
Postdoctoral fellowship (Nationaal Fund for Scientific Research, NWO) at the department of Human Genetics,
University of Groningen (chair: Prof. Dr. C.H.C.M. Buys), 1991-1994
CURRENT AFFILIATION
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
1995-1997: Group leader
1997-2003: Assistant professor
2003-present: Associate professor
MAJOR GRANTS
FWO (national fund for scientific research), research project, “Study of the fragile X gene in man and transgenic mice”, 19961999, € 230.000
BIOMED –II (European community), project, “Transgenic mouse models to study fragile X mental retardation”, 1996-1999, €
37.500
FRAXA (fragile X research foundation, Newburyport, MA), research project, “Characterization of transgenic fragile X “rescue”
mice”, 1999-2000, $ 30.000
FWO, research project, “Study of the fragile X gene in man and transgenic mice(renewal).”2000-2001, € 137.500
FRAXA (fragile X research foundation, Newburyport, MA), research project “Characterization of transgenic fragile X “rescue”
mice (renewal)”, 2000-2001, $ 35.000
NVSG (National Foundation for the support of the Handicapped), “Identification of subtelomeric rearrangements in patients
with a mental handicap”, 2000-2001, € 25.000
FWO, project, “Identification and characterisation of genetic factors contributing to cognitive development”, 2002-2005, €
275.000
IUAP (Interuniversity Attraction Poles Program), satellite project, “Molecular Genetics and Cell Biology”, 2002-2006, €
93.750 (of total grant of € 375.000)
BOF-ASPEO (University of Antwerp Research Fund), project, “Identification of genetic factors influencing the mental
handicap of patients with fragile X syndrome”, 2002-2004, €100.000
Marguerite-Marie DELACROIX Foundation, “Identification of subtelomeric rearrangements in patients with a mental
handicap”, 2003-2004, € 25.000
CFXF (Conquer Fragile X Foundation, Palm Beach, FL), project “Construction of a transgenic fragile X I304N pointmutation
mouse model”, 2003-2004, $ 30.000
BOF-NOI (University of Antwerp Research Fund - Novel Research Initiatives), project, “Identification of genetic factors
involved in mild mental retardation”, 2004-2007, € 110.000
Marguerite-Marie DELACROIX Foundation, “Identification of subtelomeric rearrangements in patients with a mental
handicap”, 2004-2005, € 25.000 (renewal)
NFXF (National Fragile X Foundation, San Francisco, CA), project, "Is the GABAA receptor a therapeutic target for the fragile
X syndrome ?", 2004-2005, $30,000
PUBLICATIONS
Kooy RF, Hirumi H, Moloo SK, Nantulya VM, Dukes P, Van der Linden PM, Duijndam WAL, Janse CJ, Overdulve JP (1989):
Evidence for diploidy in metacyclic forms of African trypanosomes. Proc Natl Acad Sci USA 86:5469-5472
Kooy RF, Ashall F, Van der Ploeg M, Overdulve JP (1989): On the DNA content of Trypanosoma cruzi. Mol Biochem Parasitol
36:73-76
Zwart D, Brun R, Dwinger RH, Van Miert ASJPAM, Franssen FFJ, Nieuwenhuijs J, Kooy RF (1990): Influence of fever and
flurbiprofen on trypanosome growth. Acta Trop 47:115-123
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Kooy RF (1991): Cellular differentiation and genetic aspects of the trypanosome life cycle
Leegwater PAJ, Strating M, Murphy NB, Kooy RF, Van der Vliet PC, Overdulve JP (1991): The Trypanosoma brucei gene for
the DNA polymerase-á core subunit is developmentally regulated and linked to an open reading frame that is expressed
constitutively. Nucleic Acids Res 19:6441-6447
Kooy RF, Van der Veen AY, Verlind E, Houwen RHJ, Scheffer H, Buys CHCM (1993): Physical localisation of the chromosomal
marker D13S31 places the Wilson disease locus at the junction of bands q14.3 and q21.1 of chromosome 13. Hum Genet
91:504-506
Kooy RF, Verlind E, Houwen RHJ, Shapiro DH, Hawthorn LA, Cowell JK, Scheffer H, Buys CHCM (1994): A deletion hybrid
breakpoint map of the chromosomal region 13q14-q21 orders 19 genetic markers in 10 intervals. Eur J Hum Genet 2:59-65
Badbanchi F, Otto M, Kohlhauer U, Grzeschik N, Beck S, Smith SJL, Swallow DM,
Kooy RF, Vergnaud G, Aldred M, Grzeschik K-H (1994): The EUROGEM map of human chromosome 7. Eur J Hum Genet
2:216-217
Kooy RF, Wijngaard A, Verlind E, Vergnaud G, Scheffer H, Buys CHCM (1994): The EUROGEM map of human chromosome 13.
Eur J Hum Genet 2:228-229
Kooy RF, Verlind E, Wijngaard A, Shapiro DN, Scheffer H, Buys CHCM (1995): A highly informative dinucleotide repeat
polymorphism at D13S201, between RB1 and WND. Hum Genet 95:589-589
Kooy RF, Wijngaard A, Verlind E, Scheffer H, Buys CHCM (1995): An intergrated map of human chromosome 13 allowing
regional localization of genetic markers. Eur J Hum Genet 3:180-187
Hawthorn L, Roberts T, Verlind E, Kooy RF, Cowell JK (1995): A yeast artificial chromosome contig that spans the RB1-D13S31
interval on human chromosome 13 and encompasses the frequently deleted region in B-cell chronic lymphocytic leukemia.
Genomics 30:425-430
Van den Berg A, Kooy RF, Hulsbeek MMF, de Jong D, Kok K, Van der Veen AY, Buys CHCM (1996): Ordering of polymorphic
markers in the chromosome region 3p21. Cytogenet Cell Genet 72:225-228
Reyniers E, Van Bockstaele DR, De Boulle K, Kooy RF, Bakker CE, Oostra BA, Willems PJ (1996): Mean corpuscular hemoglobin
is not increased in Fmr1 knockout mice. Hum Genet 97:49-50
Kooy RF, D'Hooge R, Reyniers E, Bakker CE, Nagels G, De Boulle K, Storm K, Clincke G, De Deyn PP, Oostra BA, Willems PJ
(1996): Transgenic mouse model for the fragile X syndrome. Am J Med Genet 64:241-245
Godfraind J-M, Reyniers E, De Boulle K, D'Hooge R, Bakker CE, Oostra BA, Kooy RF, Willems PJ (1996): Long-term
potentiation in the hippocampus of fragile X knockout mice. Am J Med Genet 64:246-251
Reyniers E, Wolff G, Tariverdian G, De Boulle K, Storm K, Kooy RF, Wilems PJ (1996): Severe mental retardation and
macroorchidism without mutation in the FMR1 gene.Am J Med Genet 64:408-412
Cox SA, Attwood J, Bryant SP, Bains R, Povey S, Rebello M, Kapsetaki M, Moschonas NK, Grzeschik K-H, Otto M, Dixon M,
Sudworth HE, Kooy RF, Wright A, Teague P, Terrenato L, Vergnaud G, Monfouilloux S, Weissenbach J, Alibert O, Dib C, Fauré
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S, Bakker E, Pearson NM, Vossen RHAM, Gal A, Mueller-Myhsok B, Cann HM, Spurr NK (1996): European gene mapping
project (EUROGEM): Breakpoint panels for human chromosomes based on the CEPH reference families. Ann Hum Genet
60:447-486
D'Hooge R, Nagels G, Franck F, Bakker CE, Reyniers E, Storm K, Kooy RF, Oostra BA, Willems PJ, De Deyn PP (1997): Mildly
impaired water maze performance in male Fmr1knockout mice. Neuroscience 76:367-376
Kooy RF, Oostra BA, Willems PJ (1997): Molecular detection of dynamic mutations. In: Adolph KW (ed): “Human Genome
Methods,” Boca Raton, Florida: CRC Press, pp. 23-53
Kooy RF, Oostra BA, and Willems PJ (1998): The fragile X syndrome and other fragile site disorders. Res Probl Cell Differ 21:146 Storm K, Handig I, Reyniers E, Oostra BA, Kooy RF, Willems PJ (1998): Incomplete EcoRI digstion may lead to false
diagnosis of the fragile X syndrome. Hum Genet 102:54-56
Fransen E, D'Hooge R, Van Camp G, Verhoye M, Sijbers J, Reyniers E, Soriano P, Kamiguchi H, Willemsen R, Koekkoek SES, De
Zeeuw CI, De Deyn PP, Van der Linden A, Lemmon V, Kooy RF, Willems PJ (1998): L1 knockout mice show dilatated
ventricles, vermis hypoplasia and impaired exploration patterns. Hum Mol Genet 7:999-1009
Verhoye M, Sijbers J, Kooy RF, Reyniers E, Fransen E, Oostra BA, Wilems P, Van der Linden A (1998) MRI as a tool to study
brain structure from mouse models of mental retardation. In: Hoffman EA (ed) Medical imaging 1998: physiology and
function from multidimensional images.
SPIE Press, Bellingham, WA, pp 314-320 Holden JJA, Percy M, Allingham-Hawkins D, Brown WT, Chiurazzi P, Fish G, Gane L,
Gunter C, Hagerman R, Jenkins EC, Kooy RF, Lubs HA, Murray A, Neri G, Schwartz C,
Tranebjaerg L, Villard L, Wilems PJ (1999): Eighth international workshop on the fragile X syndrome and X-linked mental
retardation. Am J Med Genet 83:221-236
Kooy RF, Reyniers E, Verhoye M, Sijbers J, Bakker CE, Oostra BA, Wilems P, Van der Linden A (1999): Neuroanatomy of the
fragile X knockout mouse brain studied using in vivo high-resolution magnetic resonance imaging. Eur J Hum Genet 7:526532
Reyniers E, Martin J, Cras P, Van Marck E, Handig I, Jorens HZJ, Oostra BA, Kooy RF, Willems PJ (1999): Post-mortem
examination of two fragile X brothers with an FMR1 full mutation. Am J Med Genet 84: 245-249
Kooy RF, Reyniers E, Storm K, Vits L, van Velzen, D, Brinkmann AO, De Paepe A, Willems PJ (1999): CAG repeat contraction in
the androgen receptor gene in three brothers with mental retardation. Am J Med Genet 85:209-213
Reyniers E, Van Bogaert P, Peeters N, Vits L, Pauly F, Fransen E, Van Regemorter N, Kooy RF (1999) A new neurological
syndrome with mental retardation, choreoathetosis, and abnormal behavior maps to chromosome Xp11. Am J Hum Genet
65:1406-1412
Pfeifer D, Poulat F, Holinski-Feder E, Kooy F, Scherer G (2000) The SOX8 gene is loacated within 700 kb of the tip of
chromosome 16 and is deleted in a patient with ATR-16 syndrome. Genomics 63:108-116
Holinski-Feder E, Reyniers E, Uhrig S, Golla A, Wauters J, Kroisel P, Bossuyt P, Rost I, Jedele K, Zierler H, Schwab S,
Wildenauer D, Speicher MR, Willems PJ, Meitinger T,
Kooy RF (2000) Familiar mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation
t(3;16)(q29;p13.3). Am J Hum Genet 66:16-25
Bakker CE, Kooy RF, D'Hooge R, Tamanini F, Willemsen R, Nieuwenhuizen I, Reyniers E, Hoogeveen AT, Willems PJ, De Deyn
PP, Oostra B.A. (2000) Rescue of the fragile X knockout mouse. Neurosci Res Commun 26: 265-277
Kooy RF, Willemsen R, Oostra B.A. (2000) Fragile X syndrome at the turn of the century. Mol Med Today 6:194-199
Van Dam D, D'Hooge R, Hauben U, Reyniers E, Gantois I, Bakker CE, Oostra B.A., Kooy RF, De Deyn PP (2000) Spatial learning,
contextual fear conditioning and conditioned emotional response in Fmr1 knockout mice. Behav Brain Res 117: 127-136
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Bliss, T, Errington, M, Fransen, E, Godfraind, J-M, Kauer, JA, Kooy, RF, Maness, PF, Furley, AJW (2000) Long-term potentiation
in mice without L1CAM. Curr Biol 10: 1607-1610
Winnepenninckx B, Reyniers E, Bossuyt P, Smits A, Wauters J, Kooy RF (2001) Precise mapping of the fragile site FRA12A on
chromosome 12q13.1. GeneScreen 1: 139-145.
Irwin SA, Patel B, Idupulapati M, Harris JB, Crisostomo RA, Larsen BP, Kooy F, Willems PJ, Cras P, Kozlowski PB, Swain RA,
Weiler IJ, Greenough WT (2001) Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with
fragile-X syndrome: a quantitative examination. Am J Med Genet 98: 161-167
Kooy RF, Verhoye M, Lemmon V, Van der Linden A (2001): Brain studies of mouse models for neurogenetic disorders using in
vivo magnetic resonance imaging (MRI). Eur J Hum Genet 9: 153-159
Gantois I, Bakker CE, Reyniers E, Willemsen R, D'Hooge R, De Deyn,P.P, Oostra BA, Kooy, R.F (2001): Restoring the phenotype
of fragile X syndrome: insight from the mouse model. Curr Mol Med 1 : 447-455.
Lossi A-M, Laugier-Anfossi F, Depretis D, Gecz J, Gedeon A, Kooy F, Schwartz C, Mattei M-G Croquette M-F, Villard L (2002)
Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X-autosome translocation t(X;21)(p11.2;q22.3)
and nonsyndromic mental retardation. J Med Genet 39: 113-117
Winnepenninckx B, Errijgers V, Reyniers E, De Deyn PP, Abidi FE, Schwartz CE,Kooy RF (2002) Family MRX9 revisited: further
evidence for locus heterogeneity in MRX. Am J Med Genet 112 : 17-22
Abidi FA, Holinski-Feder E, Rittinger O, Kooy F, Lubs HA, Stevenson RE, Schwartz CE (2002) A novel 2-bp deletion in the
TM4SF2 is associated with MRX58. J Med Genet 39,430-433
Kooy F, Gantois I, Reyniers E, Errijgers V, Rooms L, Winnepenninckx B (2002), Genetic aspects of mental retardation. Eur
BioPharm Rev ‘summer ’, 82-87
Gantois I, Kooy RF (2002) Targeting fragile X. Genome Biol 3:1014.1-1014.5.
Winnepenninckx B, Errijgers V, Hayez-Delatte F, Reyniers E, Kooy RF (2002) Identification of a family with non-specific
mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening? Hum Mutat
20, 249-252
Winnepenninckx B, Rooms L, Kooy RF (2003) Mental Retardation : a review of the genetic causes. Brit J Dev Disabil, 49: 29-44
Nolin SL, Brown WT, Glicksman A, Houck Jr GE, Gargano AD, Sullivan A,
Biancalana V, Bröndum-Nielsen K, Hjalgrim H, Holinski-Feder E, Kooy F, Longshore J, Macpherson J, Mandel J-L, Matthijs G,
Rousseau F, Steinbach P, Väisänen M-L, von Koskull H, Sherman SL (2003) Expansion of the fragile X CGG repeat in females
with permutation or intermediate alleles. Am J Hum Genet 72: 454-464
Kooy RF (2003) Of mice and the fragile X syndrome. Trends Genet 19 : 148-154
Gasteiger M, Grasbon-Frodl E Neitzel B, Kooy F, Holinski-Feder E (2003) Hints and pitfalls of fragile X carrier testing. Genet
Test 7:303-308
Cornish KM, Turk J, Wilding J, Sudhalter V, Munir F, Kooy F, Hagerman R. (2004) Deconstructing the attention deficit in
fragile X syndrome: a developmental neuropsychological approach. J Child Psychol Psychiatry: in press
Rooms
Reyniers E, van Luijck R, Scheers S, Wauters J, Ceulemans B,van den Ende JJ, van Bever Y, Kooy RF (2004) Subtelomeric
deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification
(MLPA). Hum Mutat 23:17-21
Clarke NF, Mowat D, Kooy RF, Reyniers E, Willemsen R (2004) Fragile X syndrome phenotype with normal FMR1 gene
studies. Am J Med Genet: in press Rooms L, Reyniers E, van Luijck R, Scheers S, Wauters J, van den Ende JJ, Van
Bever Y, Kooy RF (2004) Screening for subtelomeric rearrangements using genetic markers in 70 patients with unexplained
mental retardation. Ann Genet 47:53-59
Errijgers V, Kooy RF (2004) Genetic modifiers in mice: the example of the fragile X mouse model. Cytogenet Genome Res: in
press
Gantois I, Kooy RF, Oostra BA (2004) Fragile X linked mental retardation. In: Meyers RA (ed) Encyclopedia of Molecular Cell
Biology and Molecular Medicine, Wiley- VCH, Weinheim, Germany, in press
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Lenski C, Abidi F, Meindl A, Gibson A, Platzer M, Kooy RF, Lubs HA, Stevenson RE, Ramser J, Schwartz CE (2004) Novel
truncating mutations in the polyglutamine tract binding protein gene, PQBP-1, cause Renpenning syndrome and XLMR in
another family with microcephaly. Am J Hum Genet 74:777-780
Ramser J, Winnepenninckx B, Lenski C, Errijgers V, Platzer M, Schwartz CE, Meindl
A, Kooy RF (2004) A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic
mental retardation in a large Belgian family (MRX9). J Med Genet:in press
JEAN-LOUIS MANDEL MD, PhD
Professor at College de France, Paris (Human genetic), head of DNA diagnostic lab (genetic diseases) at Strasbourg Academic
hospital (CHU Strasbourg)
leader of a research team at IGBMC, Illkirch (CU Strasbourg)
Positions:
1978-1983
Assistant Professor, Biochemistry and Molecular Biology, Faculty of Medicine, Louis Pasteur University
Strasbourg
1984-2003 Associate Professor, then Professor of Medical Genetics, Faculty of Medicine and CHU Strasbourg, head of
Human Molecular Genetics Research group
1992-present Head of DNA diagnostic laboratory, Strasbourg University Hospital
2002-2009
Director (2002-2007) or adjunct director (2007-2009) of IGBMC (INSERM, CNRS, University of Strasbourg)
2003-present Professor of Human Genetics, Collège de France (Paris)
2010-2012
Coordinator, Department of Translational Medicine and Neurogenetics, IGBMC
Honors:
1992-2009 Scientific prizes and distinctions : International San Remo prize of the Italian Society of Human Genetics
(1992); Richard Lounsbery Prize from National Academy of Sciences (USA) and Académie des Sciences of France (1994);
Baschirotto Prize, from European Society of Human Genetics (1998); Medical Research prize from Fondation LouisJeantet (Geneva, 1999); K.J. Zülch prize (research in neurology) of Foundation Reemtsma/Max Planck Society (Munich,
2001); «Neuronal Plasticity» Prize of Fondation Ipsen (2004); Grand Prix de la Fondation pour la Recherche Médicale
(Paris, 2006); Prix de l’Académie Nationale de Médecine 2009 (Paris)
1982-present Member of European Molecular Biology Organization (EMBO)
1993-present Corresponding member, then Member (since 1999) of French Académie des Sciences
1999-2000
President of the European Society of Human Genetics
2009-present Corresponding member of the French Académie Nationale de Médecine
1987-present
Member of various editorial boards: Genomics (Editorial Board 1987-1991, Editorial Committee 1992-1997);
Cytogenetics and Cell Genetics (1988-1991); Journal of Molecular Biology (1988-1991); Journal of Medical Genetics (19891998); EMBO Journal (1989-1991); Human Mutation (since 1992) – communicating editor 1994-2007); Human Genetics
(1998-2002); Human Molecular Genetics (1992-1996); European Journal of Human Genetics (1992-present)
HEATHER C MEFFORD
Current Position
Assistant Professor
Department of Pediatrics, Division of Genetic Medicine
01 / 2010 – present
previously: Acting Assistant Professor, 8 / 2008 – 1 / 2010
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Medical Genetics Training
Fellow, Medical Genetics
07 / 2005 – 07 / 2008
Board certified 08 / 2007
Research mentor: Evan E. Eichler, PhD
Pediatrics Residency Training
Seattle Children’s Hospital
07 / 2003 – 06 / 2006
Board certified 10 / 2007
Medical Education
University of Washington School of Medicine, Seattle, WA
07 / 1995 – 06 / 2003
MD, 06 / 2003
Graduate Education
Department of Genetics
07 / 1995 - 12 / 2001
PhD, Genetics, 12 / 2001
Thesis advisor: Barbara J. Trask, PhD
Thesis: “Evolution and biology of a subtelomeric repeat containing an expressed olfactory receptor gene”
Undergraduate Education
Washington University, St. Louis, MO
08 / 1990 - 05 / 1994
B.S. Chemical Engineering, 05 / 1994
Medical Licensure
WA MD00047797
AK MED S 6660
Hospital Privileges
Seattle Children’s Hospital, Seattle, WA
University of Washington Medical Center, Seattle, WA
Swedish Medical Center, Seattle, WA
Providence Medical Center, Anchorage, Alaska
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PEER-REVIEWED PUBLICATIONS
^ corresponding author
* co-first author
1.
Bassuk AG, Geraghty E, Wu S, Mullen SA, Berkovic SF, Scheffer IE, Mefford HC^ (2013) Deletions of 16p11.2 and 19p13.2
in a family with intellectual disability and generalized epilepsy. Am J Medical Genetics (accepted for publication)
2.
Kirov A, Dimova P, Todrova A, Mefford H, Todorov T, saraylieva G, Bojinova V, Mitev V, Helbig I (2013) 15q13.3.
microdeletions in a prospectively recruited cohort of patients with idiopathic generalized epilepsy in Bulgaria. Epilepsy
Research [Epub ahead of print]
3.
McMillin MJ, Below JE, Shively KM, Beck AE, Gildersleeve HI, Pinner J, Gogola GR, Hecht JT, Grange DK, Harris DJ, Earl DL,
Jagadeesh S, Mehta SG, Robertson SP, Swanson JM, Faustman EM, Mefford HC, Shendure J, Nickerson DA, Bamshad MJ;
the University of Washington Center for Mendelian Genomics (2012) Mutations in ECEL1 cause distal arthrogryposis
type 5D. American Journal of Human Genetics 92:150-6. PMCID: PMC3542461
4.
Kirov A, Dimova P, Todorova A, Mefford HC, Todorov T, Saraylieva G, Bojinova V, Mitev V, Helbig I (2012) Familial
15q13.3 microdeletion and microduplication in idiopathic generalized epilepsy in Bulgarian patients. Epilepsy Research
[Epub ahead of print]
5.
Møller RS, Weber YG, Klitten LL, Trucks H, Muhle H, Kunz WS, Mefford HC, Franke A, Kautza M, Wolf P, Dennig D,
Schreiber S, Rückert I, Wichmann H, Ernst JP, Tommerup N, Stephani U, Lerche H, Hjalgrim H, Helbig, Sander T,
EPICURE Consortium (2012) Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy. Epilepsia 54:256-64.
6.
O’Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, Carvill GL, Kumar K, Lee C, Ankenman K, Munson J, Hiatt
JB, Turner EH, Levy R, O’Day DR, Krumm N, Coe BP, Martin BK, Borenstein E, Nickerson DA, Mefford HC, Doherty D, Akey
JM, Bernier R, Eichler EE, Shendure J (2012) Massively multiplex targeted sequencing identified genes recurrently
disrupted in autism spectrum disorders. Science 338:1619-22. PMCID: PMC3528801
7.
Tucci A, Kara E, Schossig A, Wolf NI, Plagnol V, Fawcett K, Paisán-Ruiz C, Moore M, Hernandez D, Musumeci S, Tennison
M, Hennekam R, Palmeri S, Malandrini A, Raskin S, Donnai D, Hennig C, Tzschach A, Hordijk R, Bast T, Wimmer K, Lo C-N,
Shorvon S, Mefford HC, Eichler EE, Hall R, Hayes I, Hardy J, Singleton A, Zschocke J, Houlden H (2012) Kohlschutter-Tonz
syndrome: Mutations in ROGDI and evidence of genetic heterogeneity. Human Mutation 34:296-300.
8.
Epi4K Consortium (2012) Epi4K: Gene Discovery in 4,000 genomes. Epilepsia 53:1457-67. PMCID: PMC3418423
9.
Helbig I, Hartmann C, Mefford HC (2012) The unexpected role of copy number variations in juvenile myoclonic epilepsy.
Epilepsy and Behavior (accepted)
10. Mefford HC, Cook J, Gospe SM (2012) Epilepsy Due to 20q13.33 Subtelomere Deletion Masquerading as PyridoxineDependent Epilepsy. Am J Med Genet 158A:3190-5.
11. Mefford HC^, Batshaw ML, Hoffman EP (2012) Genomics, Intellectual Disability and Autism. New England Journal of
Medicine 366:733-43.
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12. Mefford HC, Shur N, Rosenfeld J (2012) 15q24 Microdeletion. In GeneReviews at GeneTests: Medical Genetics
Information Resource. Copyright, University of Washington, Seattle, 1997-2011. Available at http://www.genetests.org.
13. Hing AV, Mefford HC, Cunningham ML (2012) New development in genetic diagnosis: implications for the craniofacial
surgeon. J Craniofac Surg 23:212-6.
14. Bachmann-Gagescu R, Ishak GE, Dempsey J, Adkins J, O’Day D, Phelps IG, Gunay-Aygun M, Kline AD, Szczaluba K,
Martorell L, Alswaid A, Alrasheed S, Pai S, Izatt L, Ronan A, Parisi MA, Mefford HC, Glass I, Doherty D (2012) Genotypephenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures. J
Med Genet 49:126-37.
15. Mefford HC^, Rosenfeld JA, Shur N, Slavotinek AM, Cox VA, Hennekam RC, Firth HV, Willatt L, Wheeler P, Morrow EM,
Cook J, Sullivan R, Oh A, McDonald MT, Zonana J, Keller K, Hannibal MC, Ball S, Kussmann J, Gorski J, Zelewski S, Banks V,
Smith W, Smith R, Paull L, Rosenbaum KN, Amor DJ, Silva J, Lamb A, Eichler EE (2011) Further clinical and molecular
delineation of the 15q24 microdeletion syndrome. J Med Genet 49:110-8. PMCID: PMC3261729
16. Mefford HC^, Yendle SC, Hsu C, Cook J, Geraghty E, McMahon JM, Eeg-Olofsson O, Sadleir LG, Gill D, Ben-Zeev B,
Lerman-Sagie T, Mackay M, Freeman JL, Andermann E, Pelakanos J, Andrews I, Wallace G, Eichler EE, Berkovic SF,
Scheffer IE (2011) Rare copy number variants are an important cause of epileptic encephalopathies. Annals of Neurology
70:974-85. PMCID: PMC3245646
17. Muhle H, Mefford HC, Obermeier T, von Spiczak S, Eichler EE, Stephani U, Sander T, Helbig I (2011) Absence Seizures
with Intellectual Disability as a phenotype of the 15q13.3 microdeletion syndrome. Epilepsia 52:e194-8.
18. Hannibal MC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillan MJ, Gildersleeve HI, Bigham AW, Tabor HK, Mefford
HC, Cook J, Yoshiura K, Matsumoto T, Matsumoto N, Miyake N, Tonoki H, Naritomi K, Kaname T, Nagai T, Ohashi H,
Juosawa K, Hou J, Ohta T, Liang D, Sudo A, Morris CA, Banka S, Black GC, Clayton-Smith J, Nickerson DA, Zackai EH,
Shaikh TH, Donnai D, Niikawa N, Shendure J, Bamshad MJ (2011) Spectrum of MLL2 (ALR) Mutations in 110 Cases of
Kabuki Syndrome. Am J Med Gen 155A:1511-6. PMCID: PMC3121928
19. Carranza Rojo D, Hamiwka L, McMahon JM, Dibbens LM, Arsov T, Suls A, Stodberg T, Kelley K, Wirrell EC, Appleton B,
Mackay MT, Freeman JL, Yendle SC, Berkovic SF, Bienvenu T, De Jonghe P, Thorburn DR, Mulley JC, Mefford HC, Scheffer
IE (2011) De Novo SCN1A mutations in Migrating Partial Seizures of Infancy. Neurology 77:380-3. PMCID: PMC3140798
20. Sisodiya SM, Mefford HC (2011) Genetic contribution to the common epilepsies. Curr Opin Neurol. 24:140-5.
21. Mulley JC, Mefford HC (2011) Epilepsy and the New Cytogenetics. Epilepsia 52:423-32. PMCID: PMC3079368
22. van Bon BWM, Mefford HC, de Vries BBA (2010) 15q13.3 Microdeletion. In GeneReviews at GeneTests: Medical
Genetics Information Resource (http://www.genetests.org). Copyright University of Washington, Seattle. 1997-2011.
23. Mefford HC^, Mulley JC (2010) Genetically complex epilepsies, copy number variants and syndrome constellations.
Genome Medicine 2:71. PMCID: PMC2988446.
24. Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford
HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ,
Shendure J (2010) Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nature Genetics 42:7903. PMCID: PMC2930028.
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25. Bachmann-Gagescu R*, Mefford HC*^, Cowan C, Glew GM, Hing AV, Wallace S, Bader PI, Hamati A, Reitnauer PJ, Smith
R, Stockton SW, Muhle H, Helbig I, Eichler EE, Ballif BC, Rosenfeld J, Tsuchiya KD (2010) Recurrent 200-kb deletions of
16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity. Genetics in Medicine
12:641-7.
26. Mefford HC^, Muhle H, Ostertag P, von Spiczak S, Buysse K, Baker C, Franke A, Malafosse A, Genton P, Thomas P,
Gurnett CA, Schreiber S, Bassuk AG, Guipponi M, Stephani U, Helbig I, Eichler EE. (2010) Genome-wide copy number
variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genetics 6:e1000962.
PMCID: PMC2873910.
27. Mefford HC^, Shafer N, Antonacci F, Tsai JM, Park SS, Hing AV, Rieder MJ, Smyth MD, Speltz ML, Eichler EE, Cunningham
ML (2010) Copy number variation analysis in single suture craniosynostosis reveals RUNX2 duplication in two cousins
with metopic craniosynostosis. Am J Med Genet 152A:2203-10.
28. Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh, T McCarthy SE, Baker C, Mefford
HC, Kidd JM, Browning SR, Browning BL, Dickel DE, Ballif B, Platky K, Farber D, Gowans GC, Wetherbee J, Asamoah A,
Weaver DD, Mark PR, Dickerson J, Garg BP, Ellingwood SA, Smith R, Banks VC, Smith W, McDonald MT, Hoo JJ, French
BN, Hudson C, Johnson JP, Ozmore J, Moeschler JB, Surti U, Escobar LF, El-Khechen D, Gorski JL, Kussmann J, Salbert B,
Lacassie Y, Biser A, McDonald McGinn D, Zackai EH, Deardorff MA, Shaikh TH, Haan E, Friend K, Fichera M, Romano C,
Gécz J, deLisi L, Sebat J, King MC, Shaffer LG, Eichler EE (2010) A recurrent 16p12.1 microdeletion suggests a two-hit
model for severe developmental delay. Nat Genet 42:203-9. PMC2847896.
29. Mefford HC^. (2009) Genotype to phenotype – discovery and characterization of novel genomic disorders in a
“genotype-first” era. Genetics in Medicine 11:836-42.
30. Collie A, Landsverk M, Ruzzo E, Mefford H, Buysse K, Adkins J, Knutzen D, Barnett K, Brown R Jr, Parry G, Yum S, Simpson
D, Olney R, Chinnery P, Eichler E, Chance P, Hannibal M. (2009) Non-recurrent SEPT9 duplications cause Hereditary
Neuralgic Amyotrophy. J Med Genet 47:601-7. PMID: 19939853.
31. de Kovel CG, Trucks H, Helbig I, Mefford HC, Baker C, Leu C, Kluck C, Muhle H, von Spiczak S, Ostertag P, Obermeier T,
Kleefuß-Lie AA, Hallmann K, Steffens M, Gaus V, Klein KM, Hamer HM, Rosenow F, Brilstra EH, Kasteleijn-Nolst Trenité D,
Swinkels ME, Weber YG, Unterberger I, Zimprich F, Urak L, Feucht M, Fuchs K, Møller RS, Hjalgrim H, De Jonghe P, Suls
A, Rückert IM, Wichmann HE, Franke A, Schreiber S, Nürnberg P, Elger CE, Lerche H, Stephani U, Koeleman BP, Lindhout
D, Eichler EE, Sander T. (2009) Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized
epilepsies. Brain. 133:23-32. PMCID: PMC2801323.
32. Dibbens LM, Mullen S, Helbig I, Mefford HC, Bayly MA, Bellows S, Leu C, Trucks H, Obermeier T, Wittig M, Franke A,
Caglayan H, Yapici Z; EPICURE Consortium, Sander T, Eichler EE, Scheffer IE, Mulley JC, Berkovic SF (2009) Familial and
sporadic 15q13.3 microdeletions in Idiopathic Generalized Epilepsy: Precedent for Disorders with Complex Inheritance.
Human Molecular Genetics 18:3626-31.
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33. Mefford HC, Cooper GM, Zerr T, Smith J, Baker C, Shafer N, Thorland E, Skinner C, Schwartz CE, Nickerson DA, Eichler EE
(2009) A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease.
Genome Research 19:1579-85. PMCID: PMC2752120.
34. Mefford HC, Eichler EE (2009) Duplication Hotspots, Rare Genomic Disorders and Common Disease. Current Opinion in
Genetics & Development 19:196-204. PMCID: PMC2746670.
35. van Bon BWM, Mefford HC, Menten B, Koolen DA, Sharp AJ, Nillesen WM, Innis JW, de Ravel TJL, Mercer C, Fichera M,
Stewart H, Connell LE, Ounap K, Castle B, vsn der AA N, van Ravenswaaij C, an der Smagt J, Nobrega M, de Leewu N,
Pfundt R, Bongers EM, van Kalmthout M, Vandeweijer G, Fryns JP, Janssens S, Foulds N, Reitano S, Smith K, Parkel S,
Loeys B, Woods C, Oostra A, Speleman F, Poot M, Kurg A, Willat L, Knights SJL, Vermeesch JR, Romano C, Mortier G,
Barber JC, Kooy F, Brunner HG, Eichler EE, Kleefstra T, de Vries BBA (2009) Further delineation of the 15q13 microdeletion and duplication syndrome: A clinical spectrum varying from non-pathogenic to a severe outcome. Journal of
Medical Genetics 46:511-23.
36. Itsara A, Cooper GM, Baker C, Girirajan S, Li J, Absher D, Krauss RM, Myers RM, Ridker PM, Chasman DI, Mefford H, Ying
P, Nickerson DA, Eichler EE (2009) Population analysis of large copy number variants and hotspots of human genetic
disease. American Journal of Human Genetics 84:148-61.
37. Sparkes RL, Shetty S, Chernos JE, Mefford HC, Micheil Innes A. (2009) Interstitial deletion of 11q in a mother and fetus:
implications of directly transmitted chromosomal imbalances for prenatal genetic counseling. Prenatal Diagnosis
29:283-6.
38. Landsverk ML, Ruzzo EK, Mefford HC, Buysse K, Buchan JG, Eichler EE, Petty EM, Peterson EA, Knutzen DM, Barnett K,
Farlow MR, Caress J, Parry GJ, Quan D, Gardner KL, Hong M, Simmons Z, Bird TD, Chance PF, Hannibal MC (2008)
Duplication within the SEPT9 gene associated with a founder effect in North American families with Hereditary
Neuralgic Amyotrophy. Human Molecular Genetics 18:1200-8. PMCID: PMC2722193.
39. Helbig I, Mefford HC, Sharp AJ, Guipponi M, Fichera M, Franke A, Muhle H, de Kovel C, Baker C, von Spiczak S, Kron KL,
Steinich I, Kleefuß-Lie AA, Leu C, Gaus V, Schmitz B, Klein KM, Reif PS, Rosenow F, Weber Y, Lerche H, Zimprich F, Urak L,
Fuchs K, Feucht M, Genton P, Thomas P, Visscher F, de Haan G, Møller RS, Hjalgrim H, Luciano D, Wittig M, Nothnagel
M, Elger CE, Nuernberg P, Romano C, Malafosse A, Koeleman BPC, Lindhout D, Stephani U, Schreiber D, Eichler EE,
Sander T (2009) 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nature Genetics 41:160-2.
PMCID: PMC3026630.
40. Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, Collins A, Mercer C,
Norga K, de Ravel T, Devriendt K, Bongers EM, de Leeuw N, Reardon W, Gimelli S, Bena F, Hennekam RC, Male A, Gaunt
L, Clayton-Smith J, Simonic I, Park SM, Mehta SG, Nik-Zainal S, Woods CG, Firth HV, Parkin G, Fichera M, Reitano S,
Giudice ML, Li KE, Casuga I, Broomer A, Conrad B, Schwerzmann M, Räber L, Gallati S, Striano P, Coppola A, Tolmie JL,
Tobias ES, Lilley C, Armengol L, Spysschaert Y, Verloo P, De Coene A, Goossens L, Mortier G, Speleman F, van Binsbergen
E, Nelen MR, Hochstenbach R, Poot M, Gallagher L, Gill M, McClellan J, King MC, Regan R, Skinner C, Stevenson RE,
Antonarakis SE, Chen C, Estivill X, Menten B, Gimelli G, Gribble S, Schwartz S, Sutcliffe JS, Walsh T, Knight SJ, Sebat J,
Romano C, Schwartz CE, Veltman JA, de Vries BB, Vermeesch JR, Barber JC, Willatt L, Tassabehji M, Eichler EE. (2008)
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. New England Journal of Medicine
359: 1685-99. PMCID: PMC2703742.
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41. Sharp AJ, Mefford HC, Li KE, Broomer AJ, Wang Y, Xiao C, Barbacioru C, Baker C, Skinner C, Stevenson RE, Schroer R,
Novara F, De Gregori M, Ciccone R, Gimelli G, Bernardina BD, Torniero C, Giorda R, Regan R, Murday V, Mansour S,
Fichera M, Castiglia L, Failla P, Cooper GM, Knight SJL, Romano C, Zuffardi O, Chen C, Schwartz C, Eichler EE (2008) A
recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nature Genetics 40:322-8.
PMCID: PMC2365467.
42. Hannes F, Sharp AJ, Mefford HC, de Ravel T, Ruivenkamp CA, Breuning MH, Fryns J-P, Devriendt K, Van Buggenhout G,
Vogels A, Stewart H, Hennekam RC, Cooper GM, Regan R, Knight JSL, Eichler EE, Vermeesch JR. (2009) Recurrent
reciprocal deletions and duplications of 16p13.11: The deletion is a risk factor for MR/MCA while the duplication may be
a rare benign variant. Journal of Medical Genetics 46:223-32 [Epub 2008 Jun 11]. PMCID: PMC2658752.
43. Mefford HC, Clauin S, Sharp AJ, Moller RS, Ullman R, Kapur R, Pinkel D, Cooper GM, Ropers HH, Tommerup N, Eichler EE,
Bellanne-Chantelot C. (2007) Recurrent reciprocal genomic rearrangements of 17q12 are involved in renal disease,
diabetes and epilepsy. American Journal of Human Genetics 81:1057-69. PMCID: PMC2265663.
44. Gygi MP, Ferguson MD, Mefford HC, Lund KP, O'Day C, Zhou P, Friedman C, van den Engh G, Stolowitz ML, Trask BJ.
(2002) Use of fluorescent sequence-specific polyamides to discriminate human chromosomes by microscopy and flow
cytometry. Nucleic Acids Research 30:2790-2799. PMCID: PMC117061.
45. Mefford HC, Trask BJ. (2002) The complex structure and dynamic evolution of human subtelomeres. Nature Reviews
Genetics 3:91-102.
46. Linardopoulou E*, Mefford HC*, Nguyen O, Friedman C, van den Engh G, Farwell DG, Coltrera M, Trask BJ. (2001)
Transcriptional activity of multiple copies of a subtelomerically located olfactory receptor gene that is polymorphic in
number and location. Human Molecular Genetics 10:2373-2383.
47. Mefford HC*, Linardopoulou E, Coil D, van den Engh G, Trask BJ. (2001) Comparative sequencing of a multicopy
subtelomeric region containing olfactory receptor genes reveals multiple interactions between non-homologous
chromosomes. Human Molecular Genetics 10:2363-2372.
48. Mefford HC, Baumbach L, Panguluri RC, Whitfield-Broome C, Szabo C, Smith S, King MC, Dunston G, Stoppa-Lyonnet D,
Arena F. (1999) Evidence for a BRCA1 founder mutation in families of West African ancestry. American Journal of Human
Genetics 65:575-578. PMCID: PMC1377959.
49. Mefford H, van den Engh G, Friedman C, Trask BJ. (1997) Analysis of the variation in chromosome size among diverse
human populations by bivariate flow karyotyping. Human Genetics 100:138-144.
50. Schubert EL, Lee MK, Mefford HC, Argonza RH, Morrow JE, Hull J, Dann JL, King MC. (1997) BRCA2 in American families
with four or more cases of breast or ovarian cancer: recurrent and novel mutations, variable expression, penetrance,
and the possibility of families whose cancer is not attributable to BRCA1 or BRCA2. American Journal of Human Genetics
60:1031-1040. PMCID: PMC1712449.
51. Schubert EL, Mefford HC, Dann JL, Argonza RH, Hull J, King MC. (1997) BRCA1 and BRCA2 mutations in Ashkenazi Jewish
families with breast and ovarian cancer. Genetic Testing 1:41-46.
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Trask BJ, Mefford H, van den Engh G, Massa HF, Juyal RC, Potocki L, Finucane B, Abuelo DN, Witt DR, Magenis E, Baldini A,
Greenberg F, Lupski JR, Patel PI. (1996) Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis
syndrome patients. Human Genetics 98:710-718.
TYCHELE TURNER
Education:
2008- Johns Hopkins University School of Medicine, Doctorate of Philosophy in Human Genetics, in process
2004-2008 Michigan State University, Bachelor of Science in Genomics and Molecular Genetics, May 2008, G.P.A. 3.81, with
Honors
Research Experience:
2009- Member of the Dr. Aravinda Chakravarti, Ph.D. Laboratory at the Johns Hopkins University. Doctoral Thesis:
Elucidating the Etiology of Autism Using Genomic Methods.
2009 Graduate Student Rotation in the Dr. Geraldine Seydoux, Ph.D. Lab at the Johns Hopkins University School of Medicine.
Rotation project studying the in vivo phosphotyrosine status of MBK-2 in C. elegans.
2009 Graduate Student Rotation in the Dr. Aravinda Chakravarti, Ph.D. Lab at the Johns Hopkins University School of
Medicine. Rotation project studying the role of copy number variation in autism.
2008 Graduate Student Rotation in the Dr. David Valle, M.D. Lab at the Johns Hopkins University School of Medicine.
Rotation project studying the role of a potential regulator sequence of a sensory tissue specific miRNA cluster. Also,
examining the role of mutations in this sequence as a cause of progressive hearing loss.
2006-2008 Member of the Dr. Karen Friderici, Ph.D. Lab at Michigan State University studying the genetic causes of
progressive hearing loss. Specifically, identifying and studying protein interactions between gamma-actin, beta-actin, and
the gamma-actin mutations previously identified in progressive hearing loss.
PUBLICATIONS:
2012
A. Chakravarti, T. Turner. Fascinating Puzzle: Focus on function may help unravel autism’s complex genetics. Online article:
https://sfari.org. June 26, 2012
2012
Jiang Q, Turner T, Sosa MX, Rakha A, Arnold S, Chakravarti A. Rapid and
efficient human mutation detection using a bench-top next-generation DNA
sequencer. Hum Mutat. 2012 Jan;33(1):281-9. doi: 10.1002/humu.21602. Epub 2011
Oct 17. PubMed PMID: 21898659; PubMed Central PMCID: PMC3240684.
2011
Turner T, Pihur V, Chakravarti A. Quantifying and modeling birth order effects in autism. PLoS One. 2011;6(10):e26418. Epub
2011 Oct 19. PubMed PMID: 22039484; PubMed Central PMCID: PMC3198479.
PRESENTATIONS:
2012
Platform Talk: Delta Catenin (CTNND2): genetics and function of a novel autism gene. T. Turner, E. Oh, Y.P. Liu, M. X. Sosa, S.
Sanders, K. Sharma, D. Moreno-De-Luca, T. Plona, K. Pike, D. Soppet, M. W. Smith, M. State, S. W. Cheung, C. Lese Martin, R.
Huganir, E. Cook, N. Katsanis, A. Chakravarti. Presented at the 2012 American Society of Human Genetics Conference.
November 7, 2012, San Francisco, CA.
2011
Poster: T. Turner, M. Sosa, S. Vyas, S. Sampath, E.H. Cook, A. Chakravarti. Identification of a Novel Autism Gene: CTNND2.
Presented at the 2011 Gordon Research Conference in Human Genetics and Genomics. July 17-23, 2011, Newport, RI, Salve
Regina University.
2010
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Poster: T. Turner, V. Pihur, S. Yegnasubramanian, A. Chakravarti. Exome sequencing of females with autism. Presented at the
Young Investigator Symposium on Genomics and Bioinformatics, September 23, 2010, Baltimore, MD, Johns Hopkins
University School of Medicine.
2010
Platform Talk: T. Turner, V. Pihur, S. Yegnasubramanian, A. Chakravarti. Exome sequencing of autism cases at the ‘extreme’.
Annual Meeting of The American Society of Human Genetics, November 5, 2010, Washington, D.C.
2009
Participant in the Human Genetics Program Rotation Talks. Oral Presentation entitled “Whole Genome Sequencing of Two
Autism Individuals: Validation of a Novel Deletion in Neurexin 1 (NRXN1).”
2008
Participant in Microbiology and Molecular Genetics Department Senior Class Poster Presentation. Poster entitled
“Identification and analysis of gamma and beta actin protein interactions within the inner ear through the use of a yeast
two-hybrid.”
GRANTS AND FELLOWSHIPS:
2012Autism Speaks Dennis Weatherstone Predoctoral Fellowship: competitive research scholarship supporting students in a
doctoral program pursuing the elucidation of autism. Funding helps support the student’s stipend, travels, and research.
2008
College of Natural Science Undergraduate Research Support Scholarship: competitive research scholarships providing spring
semester support for research.
AWARDS AND HONORS:
2012
Johns Hopkins University School of Medicine Biomedical Scholars Association Graduate Student Milestone Award for
Publication
2008
Featured in “MSU Leads the Way in Undergraduate Research” in the MSU Alumni Magazine. Fall 2008 Edition. Pages 36-41.
2008
Featured in “Students Advancing Knowledge” in the MSU Today Research and Creative Activities Magazine. Summer 2008
Edition. Pages 5-6.
2008
Microbiology and Molecular Genetics Sayer Award: presented at graduation to a graduating senior in recognition of
excellence in academics and contributions to research.
2007-2008
Microbiology and Molecular Genetics DuVall Award for academic excellence as a Genomics and Molecular Genetics Major.
Presented at graduation.
2008
The Honor Society of Phi Kappa Phi MSU Chapter Graduate Fellowship: Competitive award given to one active member of
the MSU Chapter of Phi Kappa Phi each year pursuing graduate studies in the following academic year.
2008
Featured in Michigan State University Undergraduate Research and Creative Activities Videos. In the “Overview” video and
“Genomics” video which can be found at http://urca.msu.edu/video/genomics
2008
First Prize in the Cell and Molecular Biology category for oral presentation entitled “Identification and analysis of gamma and
beta actin protein interactions within the inner ear through the use of a yeast two-hybrid.” University Undergraduate
Research and Arts Forum at Michigan State University.
2008
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MSU Honors College Member
2008
Member of The National Society of Collegiate Scholars at MSU
2008
Mortar Board National Honor Society
2008
MSU Microbiology Club President. Organize and run club meetings, set up special events, find guest speakers, and plan high
school outreach.
Professional Society Memberships:
2010Member of the American Society of Human Genetics
2008Member of The Honor Society of Phi Kappa Phi
Conference Attendance:
2012
Participation in the Annual Meeting of The American Society of Human Genetics, November 6-10, 2012, San Francisco, CA.
2011
Participation in the 2011 Gordon Research Conference in Human Genetics and Genomics. July 17-23, 2011, Newport, RI,
Salve Regina University.
2010
Participation in the 60th Annual Meeting of The American Society of Human Genetics, November 2-6, 2010, Washington,
D.C.
2009
Completion of the 50th Annual Short Course on Medical and Experimental Mammalian Genetics. July 19 – July 30, 2009 at
The Jackson Laboratory. Bar Harbor, Maine.
Teaching Experience:
2012-2013
Teacher Assistant for JHSOM Medical Class: Basic Science Scholarly Concentration Class (Responsible for developing
curriculum (with the head professor) for analyzing genome sequence data from unknown fungal DNA with relevance to
medical applications)
2012
Teacher Assistant for JHSOM Graduate Class: Fundamentals of Genetics (Responsible for assisting the professors in the
human genetics section of the class)
2010
Teacher Assistant for Johns Hopkins University School of Medicine Graduate Class: Evolution of the Concept of the Gene
(Responsible for helping students prepare for their class presentations on historical concepts in human genetics)
Research Skills:
Cell Culture
Cells: Primary rat hippocampal neurons, HEK 293T, Neuro2a, ARPE-19 Techniques: cells culture, transfection, lysis of cells,
immunoprecipitation, immunostaining
Assays: Dendritic spine count analysis
Computer Languages
R, Python, bash, shell scripting, awk, sed, cluster computing
Computer Programs
Association Analysis, Genotype Data Formatting: Plink, LocusZoom
Database: MySql
Document Preparation: Microsoft Office, LaTeX, vi
FTP: Filezilla
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Genomes: UCSC Genome Browser, UCSC executable tools
Identity-By-State (IBS) Testing: SNPduo
Image Analysis: ImageJ, GIMP
Linkage Analysis: Merlin/Minx
Microscopy: Zeiss 510 AIM Software
Operating Systems: UNIX, Windows, Ubuntu, Mac
Other: NCBI Ebot
PCA: Eigensoft/Eigenstrat
Pedigree Drawing: Madeline
Phasing and Imputation: BEAGLE
Phylogenetic Analysis: Molecular Evolutionary Genetic Analysis (MEGA)
Primer Design: Primer3
Sequence Alignment/Next-Generation Sequencing: BWA, BFAST, BLAST, BLAT, CLUSTALW, GSMapper (454), Amplicon
Variant Analyzer (454), LastZ, MUMmer, Sequencher, FastQC, Picard, Genome Analysis Toolkit (GATK), samtools, Galaxy,
vcftools, bedtools, sabre
TaqMan (expression, copy number, genotyping): Applied Biosystems SDS
Variant Effect Prediction: Annovar, SIFT, PolyPhen-2, GERP, PhyloP
DNA
Quantitation: picogreen, Qubit fluoremeter, nanodrop, Tecan NanoQuant
Variation: TaqMan genotyping, gene expression, and copy number
Microscopy
Light microscopy, Fluorescent, and Confocal (Zeiss 510)
Model Organism
C. elegans: Growing worms in liquid culture, embryo isolation, seeding new cultures, freezing adult worms for purification,
freezing worms for long term storage, and immunoprecipitation of GFP fusion proteins from whole worm extracts. S.
cerevisiae: Yeast two-hybrid, plasmid preparation, media preparation, protein extraction, and DNA transformation.
D. rerio: Sexing of fish, setting up fish matings, embryo collection, embryo injections.
Molecular
DNA: PCR, restriction digestion, ligation, agarose gel preparation, running DNA in
Biology
agarose gel, gel extraction, DNA purification, plasmid preparation, tranformation of competent cells, Gateway cloning
technology
Protein: Antibody coupling to magnetic protein A beads, BCA quantification assay, running protein gels, and Western
blotting
Next Generation Sequencing
454: 454 Rapid library preparation, emulsion PCR, breaking and enrichment, 454 sequencing protocol
SOLiD: DNA library preparation
Capture: Agilent SureSelect
Web Design
Joomla, Google Sites
BERT BA DE VRIES
EDUCATION AND QUALIFICATIONS
1976-1982
Atheneum RSG Oud-Beijerland
1982-1990
Medical School,
Erasmus University Rotterdam
1990-1997
Dept. of Clinical Genetics,
Secondary school
Doctorandus examination, May 1987
Medical Degree, March 1990
ECFMG certificate for Foreign Medical Graduates, October 1992
PhD in Clinical Genetics, April 1997
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1996-1999
University Hospital Rotterdam
Dept. of Clinical Genetics,
University Hospital Rotterdam
June 1999
1999-2000
2000-
Clinical Genetics Unit
Institute of Child Health, London
Dept of Human Genetics
University Medical Centre
10/07/2011
Senior Registrar
'Ben ter Haar' award from the Dutch
Society of Clinical Genetics
Clinical Research Fellow
Consultant Clinical Genetics
Professional and research experience
My main interest is in understanding mental retardation and human malformations at the molecular level.
During the PhD project on the fragile X syndrome several aspects of the fragile X syndrome were studied (see publications):
The screening for the fragile X syndrome among ± 3500 mentally retarded individuals in institutions and special schools. The
dysmorphology of more than 1500 mentally retarded individuals was evaluated which led to the development of a clinical
checklist and an estimation of the prevalence of this common X-linked disorder
The effect of the variability in the FMR1 methylation on the clinical phenotype.
The effect of the full mutation in the FMR1 gene on mental development.
After the PhD various other new aspects of the fragile X syndrome were developed such as a
diagnostic antibody test and clinical screening methods. This work was done as a post-doc (0.2 fte) in the group of Prof. B.A.
Oostra, during the training for Clinical Geneticist. For the work on the fragile X syndrome, I received the 'Ben ten Haar' award
from the Dutch Society of Clinical Genetics.
The gene localisation and, subsequently, the cloning of the EXT2 gene was supported, in collaboration with the group of Prof. P.
Willems in Antwerp, Belgium.
During a three years project, the first gene involved in Benign Hereditary Chorea was mapped to chromosome 14q. This is,
currently, followed up by a project on cloning the gene in collaboration with Dr. P. Heutink (Rotterdam).
Various different genetic disorders were studied within short projects: skeletal dysplasias, infantile neuronal ceroid
lipofuscinosis and a variant of Galloway-Mowat syndrome.
After my PhD, I decided to focus on new chromosomal microdeletion syndromes. To this end, a submicroscopic Xpter
deletion was studied by Fluorescent in-situ hybridisation (FISH) technique and DNA analysis, leading to further
characterisation of the genotype as well as phenotype of this microdeletion disorder.
Subsequently, I obtained support for a fellowship at the Institute of Child Health and Great Ormond Street Children’s
Hospital London (Clinical and Molecular Genetics Unit, Prof. R.M. Winter and Prof. S. Malcolm) where I studied the
molecular and clinical aspects of several subtelomeric chromosome anomalies. Main aim was to develop clinical criteria for
the selection of patients for testing for this novel form of genetic defects.
My research focused on several aspects:
- Description of genotype-phenotype relationships of submicroscopic telomeric deletions. This work was done in close
collaboration with Dr. Flint, Institute of Molecular Medicine Oxford and other genetic centres in the UK. It led to the
development of a clinical checklist which will improve the diagnostic pick up rate of subtelomeric defects among mentally
retarded individuals.
Molecular and clinical study of the 22q submicroscopic telomere deletions in children
with features resembling the Angelman syndrome. The results suggested that such deletion are less common in ‘Angelmanlike’ patients than previously considered.
- Molecular and clinical analysis of three specific subtelomeric chromosomal defects: 1q,
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8p and 22q. This led to a further clinical characterisation of those microdeletion syndromes and localisation of causative
genes.
In Nijmegen I have started to work on the identification of microdeletions and duplications by using the novel microarray
comparative genomic hybridisation (microarray CGH) technique. This study has led to the first publication of testing of
mentally retarded patients with additional dysmorphism using a 3.5 K cloneset on the arrayCGH.
List of scientific publications
1. De Vries LB, Verkerk JM, Niermeijer MF, Oostra BA en Halley DJ. Het fragiele X syndroom: basaal defect, diagnostiek en
erfelijkheidsadvies. Ned Tijdschr Geneeskd 1992;136:1247-51.
2. Verkerk AJ, De Vries BB, Niermeijer MF, Fu Y-H, Nelson DL, Warren ST, Majoor-Krakauer DF, Halley DJ and Oostra BA. Intragenic probe used for diagnostics in fragile X families. Am J Med Genet 1992;43:192-6.
3. Reiss AL, Cianchetti, Cohen IA, De Vries B, Hagerman R, Hinton H, Froster U, Lachiewicsz A, Mazzocco M, Sobesky W and
Sudhalter V. Brief screening questionnaire for determining affected state in fragile X syndrome: a consensus recommendation.
Am J Med Genet 1992;43:61-4.
4. De Vries BB, Wiegers AM, De Graaff E, Verkerk AJ, Van Hemel JO, Halley DJ, Frijns J-P, Curfs LM, Niermeijer MF and Oostra BA.
Mental status and fragile X expression in relation to FMR-1 gene mutation. Eur J Hum Genet 1993;1:72-9.
5. Wiegers AM, De Vries LB, Curfs LM and Frijns JP. Identical psychological profile and behaviour pattern in different types of
mutation in the FMR-1 region. Clin Genet 1993;43:326-7.
6. De Vries BB, Frijns J-P, Butler MG, Canziani F, Wesby-van Swaay E, Van Hemel JO, Oostra BA, Halley DJ, Niermeijer MF. Clinical
and molecelar studies in fragile X patients with a Prader-Willi-like phenotype. J Med Genet 1993;30:761-6.
7. Wu Y-Q, Heutink P, De Vries BB, Sandkuijl LA, Van den Ouweland AM, Niermeijer MF, Galjaard H, Reyniers E, Willems PJ and
Halley DJ. Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11. Hum Mol Genet
1994;3:167-71.
8. De Vries LB, Halley DJ, Oostra BA and Niermeijer MF. The fragile-X syndrome: a growing gene causing familial intellectual
disability. J Intel Dis Res 1994;38:1-8.
9. Van den Ouweland AM, De Vries BB, Bakker L, Deelen WH, De Graaff E, Van Hemel JO, Oostra BA, Niermeijer MF and Halley
DJ. DNA diagnostics of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reverse mutation in
the FMR-1 gene. Am J Med Genet 1994;51:482-5.
10. De Vries BB and Niermeijer MF. The Prader-Willi-like phenotype in fragile X patients: a designation facilitating clinical (and
molecular) differential diagnosis. J Med Genet 1994;31:820.
11. Wuyts W, Rahmlakan S, Van Hul W, Hecht JT, Van den Ouweland AM, Raskind WH, Hofstede FC, Reyniers E, Wells DE, De
Vries BB, Conrad EU, Hill A, Zalatayev D, Wiessenbach J, Wagner MJ, Bakker B, Halley DJ and Willems PJ. Refinement of the
multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11. Am J Hum Genet 1995;57:382-7.
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12. De Die-Smulders CE, Engelen JJ, Schrander-Stumpel CT, Govaerts L, De Vries B, Vles JS, Wagemans A, Schijns-Fleuren S,
Gillessen-Kaesbach G, Fryns J-P. Inversion duplication of the short arm of chromosome 8: clinical data on seven patients and
review of the literature. Am J Med Genet 1995;59:369-74.
13. De Vries LB and MF Niermeijer. X-linked mentale retardatie aandoeningen (XLMR), een overzicht. Tijdschr. v. Artsen
Zwakzinnigenzorg 1995;13:24-34.
14. Willemsen R, Mohkamsing S, De Vries B, Devys D, Van den Ouweland A, Mandel J-L, Galjaard H and Oostra B. Rapid antibody
test for fragile X syndrome. Lancet 1995;345:1147-8.
15. De Vries BB, Robinson H, Tjon Pian Gi CV, Stolte-Dijkstra I, Oostra BA, Van den Ouwel and AM, Halley DJ, Turner G and
Niermeijer MF. General overgrowth in the fragile X syndrome: variability in the phenotypical expression of the FMR1 gene
mutation. J Med Genet 1995;32:764-9.
16. Wiegers AM, de Vries LB, Smits AP. Het verstandelijk functioneren van vrouwen met het fragiele X syndroom. In: Pedologisch
Jaarboek 1995 (eds HM Pijnenburg, CM van Rijswijk en JW Veerman), pp. 109-118. Eburon Delft.
17. Wuyts W, Van Hul W, Wauters J, Nemtsova M, Reyniers E, Van Hul E, De Boulle K, De Vries BB, Hendrickx J, Herrygers I,
Bossuyt P, Balemans W, Fransen E, Vits L, Coucke P, Nowak NJ, Shows TB, Mallet L, Van den Ouweland AM, McGaughran J, Halley
DJ and Willems PJ. Positional cloning of a gene involved in hereditary multiple exostoses. Hum Mol Genet 1996;5:1547-57.
18. De Graaff E, De Vries BB, Willemsen R, Van Hemel JO, Mohkamsing S, Oostra BA and Ouweland AM. The fragile X phenotype
in a mosaic male with a deletion showing expression of the FMR1 protein in 28% of the cells. Am J Med Genet, 1996;64:302-9.
19. De Vries BB, Wiegers AM, Smits AP, Frijns J-P, Oost BA, Halley DJ, Oostra BA, Van den Ouweland AM, Curfs LM and Niermeijer
MF. Mental status of females with a FMR1 gene full mutation. Am J Hum Genet, 1996;58:1025-32.
20. De Vries BB, Jansen CC, Duits AA, Verheij C, Willemsen R, van Hemel JO, van den Ouweland AM, Niermeijer MF, Oostra BA,
Halley DJ. Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X
family. J Med Genet 1996;33:1007-10.
21. De Vries LBA. The fragile X syndrome: clinical, genetic and large scale diagnostic studies among mentally retarded individuals
[proefschrift]. Rotterdam: Erasmus Universiteit, 1997.
22. Willemsen R, Smits A, Mohkamsing S, van Beerendonk H, de Haan A, De Vries B, Van den Ouweland A, Sistermans E, Galjaard
H, Oostra BA. Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique. Hum Genet 1997;99:308-11.
23. De Vries BB, van den Ouweland AM, Mohkamsing S, Duivenvoorden HJ, Mol E, Gelsema K, van Rijn M, Halley DJ, Sandkuijl S,
Oostra BA, Tibben A, Niermeijer MF. Screening and diagnosis for the fragile X syndrome among the mentally retarded: an
epidemiological and psychological survey. Am J Hum Genet 1997;61:660-7.
24. Van Rijn MA, de Vries BB, Tibben A, van den Ouweland AM, Halley DJ, Niermeijer MF. DNA testing for the fragile X syndrome:
implications for parents and family. J Med Genet 1997;34:907-11.
25. De Vries BBA, Halley DJJ, Oostra BA, Niermeijer MF. The fragile X syndrome. J Med Genet 1998;35:579-589.
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26. De Vries LBA, Van den Ouweland AMW, Mohkamsing S, Sandkuijl LA, Oostra BA, Niermeijer MF. Een grootschalig
diagnostisch programma voor het fragiele-X-syndroom onder verstandelijk gehandicapten.I. Een epidemiologisch onderzoek.
Ned Tijdschr Geneeskd 1998;142:1666-71.
27. De Vries LBA, Duivenvoorden HJ, Tibben A, Niermeijer MF. Een grootschalig diagnostisch programma voor het fragiele-Xsyndroom onder verstandelijk gehandicapten.II. Implicaties voor ouders en familie. Ned Tijdschr Geneeskd 1998;142:1672-5.
28. Brook CDG, De Vries BBA. Skeletal dysplasias. Arch Dis Child 1998;79:285-9.
29. De Vries BBA, Mohkamsing S, Van den Ouweland AMW, Halley DJJ, Niermeijer MF, Oostra BA, Willemsen R. Screening with
the FMR1 protein test among mentally retarded males. Hum Genet 1998;103:520-2.
30. De Vries BBA, Van den Boer-van den Berg HMA, Niermeijer MF, Tibben A. Dillemas in counselling females with the fragile X
syndrome. J Med Genet 1999;36:167-70.
31. De Vries BBA, Mohkamsing S, Van den Ouweland AMW, Mol E, Gelsema K, Van Rijn M, Tibben A, Halley DJJ, Duivenvoorden
HJ, Oostra BA, Niermeijer MF. Screening for the fragile X syndrome among the mentally retarded: a clinical study. J Med Genet
1999;36:467-70.
32. Willemsen R, Anar B, De Diego Otero Y, De Vries BBA, Hilhorst-Hofstee Y, Smits A, Van Looveren E, Willems PJ, Galjaard H,
Oostra BA. Noninvasive test for the fragile X syndrome, using hair root analysis. Am J Hum Genet 1999;65:98-103.
33. De Vries BBA, Kleijer WJ, Keulemans JLM, Voznyi YV, Franken PF, Eurlings MCM, Galjaard RJ, Losekoot M, CatsmanBerrevoets CE, Breuning MH, Taschner PEM, Van Diggelen OP. First trimester diagnosis of infantile neuronal ceroid lipofuscinosis
(INCL) using PPT enzyme assay and CLN1 mutation analysis. Prenat Diagn 1999;19:559-562.
34. De Vries BBA, Eussen, BHJ, Van Diggelen OP, Van der Heide A, Deelen WH, Govaerts LCP, Lindhout D, Wouters CH, Van Hemel
JO. Submicroscopic Xpter deletion in a boy with growth- and mental retardation caused by a familial t(X;14). Am J Med Genet
1999;87:189-94.
35. De Vries LBA en MF Niermeijer. Erfelijke vormen van mentale retardatie: een toenemende diagnostische uitdaging. Ned
Tijdschr v. Neurologie 1999;6:395-402.
36. De Vries BBA, WFM Arts, GJ Breedveld, JJM Hoogeboom, MF Niermeijer, P Heutink. Benign hereditary chorea of early onset
maps to chromosome 14q. Am J Hum Genet 2000;66:136-142.
37. De Vries BBA, BA Oostra. The fragile X syndrome: a model for mental retardation. Neurosci Res Commun 2000;26(3):255-63.
38. Bakker CE, RF Kooy, D’Hooge R, Tamanini F, Willemsen R, Nieuwenhuizen I, BBA de Vries, E Reyniers, AT Hoogeveen, PJ
Willems, PP De Deyn, BA Oostra. Introduction of a FMR1 transgene in the fragile X knockout mouse. Neurosci Res Commun
2000;26(3):265-77.
39. De Vries BBA, M Bitner-Glindzicz, SJL Knight, J Tyson, KD MacDermot, J Flint, S Malcolm, RM Winter. A boy with a
submicroscopic 22qter deletion, general overgowth and features suggestive of FG syndrome. Clin Genet 2000;58:483-7.
40. De Vries BBA, WG van't Hoff, RAH Surtees, RM Winter. Diagnostic dilemmas in four
infants with nephrotic syndrome, microcephaly and severe developmental delay. Clin
Dysmorphol 2001;10:115-222.
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41. De Vries BBA, SJL Knight, T Homfray, SF Smithson, J Flint, RM Winter. Submicroscopic subtelomeric 1qter deletions: a
recognizable phenotype? J Med Genet 2001;38:175-8.
42. De Vries LBA en B.A. Oostra. Van gen naar ziekte; het fragiele X syndroom: erfelijke mentale retardatie door een groeiend
gen. Ned Tijdschr Geneeskd 2001;145(10):474-6.
43. De Vries BBA, SM White, SJL Knight, R Regan, T Homfray, ID Young, M Super, C McKeown, M Splitt, OWJ Quarrell, AH Trainer,
MF Niermeijer, S Malcolm, J Flint, JA Hurst, RM Winter. Clinical studies on submicroscopic subtelomeric rearrangements: a
checklist. J Med Genet 2001;38:145-50.
44. De Vries BBA, M Lees, SJL Knight, R Regan, D Corney, J Flint, A Barnicoat, RM Winter. Submicroscopic 8pter deletion, mild
mental retardation and behavioural problems caused by a familial t(8;20)(p23;p13). Am J Med Genet, 2001;99(4):314-9.
45. De Vries BBA, J Tyson, RM Winter, S Malcolm. No evidence for submicroscopic 22qter eletions in patients with features
suggestive for Angelman syndrome. Am J Med Genet, 2002;109:117-20.
46. Breedveld GJ, van Dongen JWF, Danesino C, Guala A, Percy AK, Dure LS, Harper P, van der Linde H, Joosse M, MacDonald ME,
de Vries BBA, Arts WFM, Oostra BA, Krude H, Heutink P. Mutations in TIF-1 are associated with benign hereditary chorea. Hum
Mol Genet, 2002;11(8):971-9.
47. Kleefstra T, Yntema HG, Oudakker AR, Romein T, Sistermans E, Nillessen W, van Bokhoven H, de Vries BBA, Hamel BCJ. De
novo MECP2 frameshift mutation in a bpy with moderate mental retardation, obesity and gynaecomastia. Clin Genet
2002;61:359-62.
48. De Vries BBA, Breedveld GJ, Deelen HD, Breuning MH, Niermeijer MF, Heutink P. Another family with non-specific X-linked
mental retardation (MRX78) maps to Xp11.4-p11.23. Am J Med Genet 2002;111:443-5.
49. Yntema HG, Kleefstra T, Oudakker AR, Romein T, de Vries BBA, Nillesen W, Sistermans, EA, Brunner HG, Hamel BCJ, Van
Bokhoven H. Low frequency of MECP2 mutations in mentally retarded males. Eur J Hum Genet 2002;10:487-490.
50. Breedveld GJ, Percy AK, MacDonald ME, de Vries BBA, Yapijakis C, Dure LS, Ippel EF, Sandkuijl LA, Heutink P, Arts WFM.
Clinical and genetic heterogeneity in benign hereditary chorea. Neurology 2002;59:579-584.
51. Kleefstra T, Yntema HG, Oudakker AR, de Vries BBA, van Bokhoven H, Hamel BCJ, Poppelaars FA, Ausems MGEM. Localization
of a gene for nonspecific X-linked mental retardation (MRX 76) to Xp22.3-Xp21.3. Am J Med Genet 2002;110:410-411.
52. Faas BHW, de Vries BBA, van Es-van Gaal J, Merkx G, Draaisma JMT, Smeets DFCM. A new case of dup(3q) syndrome due to a
pure duplication of 3qter. Clin Genet 2002;62:315-320.
53. Lower KM, Turner G, Kerr BA, Mathews KD, Shaw MA, Gedeon AK, Schelley S, Hoyme HE, White SM, Delatycki MB, Lampe AK,
Clayton-Smith J, Stewart H, van Ravenswaaij CMA, de Vries BBA, Cox B, Grompe M, Ross S, Thomas P, Mulley JC, Gecz J.
Mutations in PHF6 are associated with Borjeson-Forssman-Lehmann syndrome. Nat Genet 2002;32:661-665.
54. De Vries BBA. Book review: Fragile X syndrome: diagnosis, treatment and research. Hum Genet 2003;112:323.
55. De Vries BBA, Winter R, Schinzel A, van Ravenswaaij-Arts C. Telomeres: a diagnosis at the end of the chromosomes. J Med
Genet 2003;40:385-398.
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56. De Vries BBA, Severijnen LA, Jacobs A, Olmer R, Halley DJ, Oostra BA, Willemsen R. FMRP expression studies in blood and hair
roots in a fragile X family with methylation mosaics. J Med Genet 2003;40:535-539.
57. Galjaard RJ, van der Linde HC, Eussen BH, de Vries BBA, Wouters CH, Oostra BA, de Graaff E, Heutink P. Isolated postaxial
polydactyly type B with mosaicism of a submicroscopic unbalanced translocation leading to an extended phenotype in offspring.
Am J Med Genet 2003;121A:168-173.
58 Vissers LE, De Vries BBA, Osoegawa K, Janssen IM, Feuth T, Choy CO, Straatman H, Van Der Vliet W, Huys EH, Van Rijk A,
Smeets D, Van Ravenswaaij-Arts CM, Knoers NV, Van Der Burgt I, De Jong PJ, Brunner HG, Van Kessel AG, Schoenmakers EF,
Veltman JA. Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal
abnormalities. Am J Hum Genet 2003;73:1261-1270.
59. Kleefstra T, Yntema HG, Nillesen WM, Oudakker AR, Mullaart RA, Geerdink N, Van Bokhoven H, De Vries BBA, Sistermans EA,
Hamel BC. MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics. Eur J Hum Genet 2004;12:2428.
60.Turner G, Lower KM, White SM, Delatycki M,Lampe AK, Wright M, Clayton-Smith J, Kerr B, Schelley S, Hoyme HE, De Vries
BBA, Kleefstra T, Grompe M, Cox B, Gecz J, Partington M. The clinical picture of the Borjeson-Forssman-Lehman syndrome in
males and heterozygous females with PHF6 mutations. Clin Genet 2004:65:226-232.
61. Hitchins MP, Rickard S, Dhalla F, De Vries BBA, Winter R, Pembrey ME, Malcolm S. Investigation of UBE3A and MECP2 in
Angelman syndrome (AS) and patients with features of AS. Am J Med Genet 2004:125A:167-72.
62. Ruiter EM, Toorman J, Hochstenbach R, De Vries BBA. Mosaic trisomy 22 in a boy with a terminal transverse limb reduction
defect. Clin Dysmorphol 2004;13:99-102.
63. Koolen D, Vissers L, Nillesen W, Smeets D, Van Ravenswaaij C, Sistermans E, Veltman J, De Vries BBA. A novel microdeletion,
del(2)(q22.3q23.3) in a mentally retarded patient, detected by array-based comparative genomic hybridization. Clin Genet
2004;65:429-32.
64. Kleefstra T, Yntema HG, Oudakker AR, Banning MJ, Kalscheuer VM, Chelly J, Moraine HH, Fryns JP, Janssen IM, Sistermans EA,
Nillesen WN, de Vries BBA, Hamel BC, Van Bokhoven H. Zinc finger 81 (ZNF81) mutations associated with X-linked mental
retardation. J Med Genet 2004;41:394-9.
Tim W. Yu (Boston, USA)
Education
1994
2001
A.B.
Magna cum laude
Ph.D.
2003
M.D.
Biochemistry and Molecular Biology
Harvard College
Neuroscience
(Cori Bargmann, Ph.D.)
University of California at San
Francisco
University of California at San
Francisco
Edizione 1
Rev. 00
04/03/2013
IRCCS
Mod. -0701-08 a
ASSOCIAZIONE
Rev. 02
Del
10/07/2011
Postdoctoral Training
6/20036/2004
7/20046/2006
Intern
Internal Medicine
Massachusetts General Hospital
Resident
Neurology
7/20066/2007
Chief Resident
Neurology
7/200712/2009
Research Fellow
Genetics
and Brigham and Women’s
Hospital
and Brigham and Women’s
Hospital
Children’s Hospital Boston, and
Beth Israel Deaconess Medical
Center
Faculty Academic Appointments
1/2010Instructor
current
Neurology
Harvard Medical School
Appointments at Hospitals/Affiliated Institutions
7/2007Graduate Assistant
Neurology
current
Massachusetts General
Hospital
8/2012current
Research Associate
Genetics
Boston Children’s Hospital
Other Professional Positions
2009 - current Associated Researcher
Broad Institute
Professional Societies
2004American Academy of Neurology
2009International Society for Autism Research
Editorial Activities
Ad hoc reviewer
Ad hoc reviewer
Ad hoc reviewer
New England Journal of Medicine
Human Molecular Genetics
Journal of Autism and Developmental
Disorders
Other Honors and Prizes
1990-1994
John Harvard Scholar
1993
Barry Goldwater Scholar
Harvard College
Harvard College
Edizione 1
Rev. 00
04/03/2013
IRCCS
Mod. -0701-08 a
ASSOCIAZIONE
Rev. 02
Del
1994-2003
2000
2001
10/07/2011
Medical Scientist Training
Program
Achievement Rewards for
College Scientists
MIND Institute Fellow
2007
AAN Resident Scholarship
Award
2010
Nancy Lurie Marks Merit
Scholar
Best Postdoctoral
Presentation, American
Society for Human Genetics
2010 International Meeting
2010
Metabolic screening for
autistic patients QA
improvement at MGH
University of California at San Francisco
University of California at San Francisco
University of California at Davis MIND
Institute - Center for Excellence in
Developmental Disabilities
American Academy of Neurology
Nancy Lurie Marks Foundation
Association of Chinese Geneticists in
America
Streamlined the process by which phlebotomy for metabolic screening is conducted for
autistic patients undergoing MRI under conscious sedation.
Publications
Peer reviewed publications in print or other media
1. Parent, J. P., Yu, T. W., Liebowitz, R., Geschwind, D., Sloviter, R. S., Lowenstein, D. H. Seizure-induced neurogenesis
in the adult hippocampus in a model of temporal lobe epilepsy (1997). Journal of Neuroscience, 17(10):3727-38.
2. Hao, J., Yu, T. W., Fujisawa, K., Culotti, J. G., Gengyo-Ando, K., Mitani, S., Moulder, G., Barstead, R., Tessier-Lavigne,
M., Bargmann, C. I. C. elegans Slit acts in midline, dorsal-ventral, and anterior-posterior guidance via the SAX3/Robo receptor (2001). Neuron, 32(1):25-38.
3. Yu, T. W. and Bargmann, C. I. Dynamic regulation of axon guidance (2001). Nature Neuroscience, 4(Supp 1): 11691176.
4. Yu, T. W., Hao, J., Lim, W., Tessier-Lavigne, M., Bargmann, C. I. Shared receptors in axon guidance: SAX-3/Robo
signalling is mediated by UNC-34/Enabled and a Netrin-independent function of UNC-40/DCC (2002). Nature
Neuroscience, 5(11):1147-1154.
5. Gitai, Z., Yu, T. W., Lundquist, E., Tessier-Lavigne, M., Bargmann, C. I. The Netrin receptor UNC-40/DCC stimulates
axon attraction and outgrowth through Enabled and, in parallel, Rac and UNC-115/AbLIM (2003). Neuron, 37(1):
53-65.
6. Chang, C., Yu, T. W., Bargmann, C. I., and Tessier-Lavigne, M. Inhibition of netrin-mediated axon attraction by a
receptor protein tyrosine phosphatase (2004). Science, 305(5680): 103-106.
7. Lawton, M. T., Quinones-Hinojosa, A., Chang, E. F., and Yu, T. Thrombotic intracranial aneurysms: classification
scheme and management strategies in 68 patients (2005). Neurosurgery, 56(3): 441-454.
8. Yu, T. W., Mochida, G. H., Tischfield, D. J., Sgaier, S. K., Flores-Sarnat, L., Sergi, C. M., Topcu, M., McDonald, M. T.,
Barry, B. J., Felie, J. M., Sunu, C, Dobyns, W. B., Folkerth, R. D., Barkovich, A. J., Walsh, C. A. Mutations in WDR62,
encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical
architecture (2010). Nature Genetics, 42(11) 1015-1020.
Edizione 1
Rev. 00
04/03/2013
IRCCS
Mod. -0701-08 a
ASSOCIAZIONE
Rev. 02
Del
10/07/2011
9. Sanders, S.J., Ercan-Sencicek, A.G., Hus, V., Luo, R., Murtha, M. T., Moreno-De-Luca, D., Chu, S. H., Moreau, M. P.,
Gupta, A. R., Thomson, S. A., Mason, C. E., Bilguvar, K., Celestino-Soper, P. B., Choi, M., Crawford, E. L, Davis, L.,
Wright, N., Dhodapkar, R. M., DiCola, M., DiLullo, N. M., Fernandez, T. V., Fielding-Singh, V., Fishman, D. O., Frahm,
S., Garagaloyan, R., Goh, G. S., Kammela, S., Klei, L., Lowe, J. K., Lund, S. C., McGrew, A. D., Meyer, K. A., Moffat, W.
J., Murdoch, J. D., O’Roak, B. J., Ober, G. T., Pottenger, R. S., Raubeson, M. J., Song, Y., Wang, Q., Yaspan, B. L., Yu, T.
W., Yurkiewicz, I. R., Beaudet, A. L., Cantor, R. M., Curland, M., Grice, D. E., Gunel, M., Lifton, R. P., Mane, S. M.,
Martin, D. M., Shaw, C. A., Sheldon, M., Tischfield, J. A., Walsh, C. A., Morrow, E. M., Ledbetter, D. H., Fombonne, E.,
Lord, C., Martin, C. L., Brooks, A. I., Sutcliffe, J. S., Cook, E. H., Geschwind, D., Roeder, K., Devlin, B., State, M.
Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly
Associated with Autism (2011). Neuron, 70(5) 863-885.
10. Clapham, K. R.*, Yu, T.W.*, Ganesh, V. S., Barry, B., Chan, Y., Mei, D., Parrini, E., Funalot, B., Dupuis, L., Nezarati, M.,
du Souich, C., van Karnebeek, C., Guerrini, R., and Walsh, C. A. FLNA Genomic Rearrangements Cause
Periventricular Nodular Heterotopia (2012). Neurology, 78(4) 269-278.
11. Chahrour MH, Yu TW, Lim ET, Ataman B, Coulter ME, Hill RS, Stevens CR, Schubert CR; ARRA Autism Sequencing
Collaboration, Greenberg ME, Gabriel SB, Walsh CA. Whole-exome sequencing and homozygosity analysis implicate
depolarization-regulated neuronal genes in autism (2012). PLoS Genetics, 8(4):e1002635.
12. Manzini MC, Tambunan DE, Hill RS, Yu TW, Maynard TM, Heinzen EL, Shianna KV, Stevens CR, Partlow JN, Barry BJ,
Rodriguez J, Gupta VA, Al Qudah AK, Eyaid WM, Friedman JM, Salih MA, Clark R, Moroni I, Mora M, Beggs AH,
Gabriel SB, Walsh CA. Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause
for Walker-Warburg Syndrome. American Journal of Human Genetics, in press.
*
*
13. Yu TW , Chahrour MH , Coulter ME, Jiralerspong S, Okamura-Ikeda K, Schmitz-Abe K, Mochida GH, Partlow JN, Sunu
CM, Felie JM, Rodriguez J, Ware J, Tan WH, Joseph RM, Hill RS, Kwan BY, Al-Saffar M, Mukaddes NM, Hashmi A,
Balkhy S, Gascon GG, Hisama FM, LeClair E, Poduri A, Oner O, Al-Saad S, Ben-Omran T, Al-Gazali L, Eapen V, Stevens
C, Rappaport L, Gabriel S, Markianos K, Taniguchi H, Braverman NE, Morrow EM, Walsh CA. Exome sequencing
identifies recessive mechanisms of familial autism. Neuron, cover article, in press (co-corresponding author).
Edizione 1
Rev. 00
04/03/2013

Evento Formativo Residenziale Programma corso

Transcript

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