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Wednesday, October 12
4:15
PM
–6:15
PM
Concurrent Platform Session A (10-19)
SESSION 12 – Neurogenetics I: Autism
Room 517D, Level 5, Convention Center
Moderators:
Laurie Weiss, Univ. of California, San
Francisco, USA; Jonathan Sebat, Univ. of California,
San Diego, USA
19
/4:15
Full exome sequencing of autism cases,
families, and controls.
B. M. Neale, C. Stevens, A.
Sabo, E. Lim, K. Samoocha, A. Kirby, S. Purcell, J.
Flannick, D. Muzny, I. Newsham, U. Nagaswamy, Y. Q.
Wu, M. Wang, J. Reid, E. Boerwinkle, C. Boyko, S.
Ripke, M. Rivas, M. Velankar, L. Wang, S. Gabriel, J.
Buxbaum, B. Devlin, G. Schellenberg, J. Sutcliffe, R.
Gibbs, M. J. Daly, ARRA Autism Sequencing Project.
20
/4:30
Exome and targeted sequencing in
sporadic autism spectrum disorders identifies
severe de novo mutations.
B. J. O’Roak, E. Karakoc,
L. Vives, S. Girirajan, I. Stanaway, A. Kumar, E. H.
Turner, M. J. Rieder, D. A. Nickerson, R. Bernier, J.
Shendure, E. E. Eichler.
21
/4:45
Whole exome sequencing identifies novel
changes in
AP4M1
,
CDKAL1
and
SYNGAP1
in
extended multiplex autism families.
H. N. Cukier, S.
H. Slifer, J. M. Jaworski, P. L. Whitehead, J. L.
Robinson, I. Konidari, W. F. Hulme, H. H. Wright, R. K.
Abramson, J. E. Dallman, J. L. Haines, M. L. Cuccaro,
J. R. Gilbert, M. A. Pericak-Vance.
22
/5:00
Characterization of the function and
regulation of the autism susceptibility 2 (
AUTS2
)
gene.
N. Oksenberg, L. Weiss, N. Ahituv.
23
/5:15
Mutations in the
SHANK1
synaptic
scaffolding gene in autism spectrum disorder and
intellectual disability.
D. Sato, C. R. Marshall, A. C.
Lionel, A. Prasad, D. Pinto, J. L. Howe, I. O’Connor, G.
A. Rappold, V. Endris, R. Roeth, J. L. Michaud, F. F.
Hamdan, B. Fernandez, W. Roberts, P. Szatmari, S. W.
Scherer.
24
/5:30
Mutation or deletion of the epigenetic
regulator,
MBD5
, causes intellectual disability,
epilepsy, and autism spectrum disorder.
S. V.
Mullegama, M. E. Talkowski, J. A. Rosenfeld, B. W. M.
van Bon, Y. Shen, E. A. Repnikova, J. Gastier-Foster,
D. L. Thrush, C. Chiang, C. Ernst, A. Lindgren, C. C.
Morton, C. Astbury, L. A. Brueton, K. D. Lichtenbelt, L.
C. Ades, M. Fichera, C. Romano, J. W. Innis, C. A.
Williams, D. Bartholomew, M. I. Van Allen, A. Parikh, L.
Zhang, R. E. Pyatt, L. G. Shaffer, S. Schwartz, B. B. A.
de Vries, J. F. Gusella, S. H. Elsea.
25
/5:45
Genome-wide DNA methylation profiling of
monozygotic twins discordant for autism spectrum
disorder.
C. C. Y. Wong, L. C. Schalkwyk, E. L.
Meaburn, A. Ronald, T. S. Price, R. Plomin, J. Mill.
26
/6:00
Sequencing-based comprehensive genome
and transcriptome analyses of velocardiofacial
syndrome.
A. E. Urban, Y. Zhang, X. Zhu, D. F.
Levinson, S. M. Weissman.
Cameras and all other recording devices are
strictly prohibited
in all session rooms. Thank you for your cooperation
Wednesday, October 12
4:15
PM
–6:15
PM
Concurrent Platform Session A (10-19
SESSION 13 – Clinical Genetics I: Genotype-Phenoty
Correlation in Syndromes
Room 517A, Level 5, Convention Center
Moderators:
Poh-San Lai, National Univ. of Singapor
Singapore; Gunnar Houge, Haukeland Univ. Hosp.,
Bergen, Norway
27
/4:15
HDAC8
mutations in Cornelia de Lange
syndrome.
M. A. Deardorff, M. Bando, K. Saitoh, T.
Itoh, Y. Katou, M. Kaur, L. Francey, J. J. Wilde, S.
Ernst, D. Clark, K. E. Cole, P. M. Lombardi, K.
Takagaki, T. Hirota, N. Nozaki, P. J. Willems, G.
Gyftodimou, M. B. Petersen, N. Tyschenko, E.
DeBaere, G. R. Mortier, G. Gillessen-Kaesbach, V. M
Siu, D. W. Christianson, F. J. Kaiser, L. G. Jackson,
Shirahige, I. D. Krantz.
28
/4:30
Mutations in
RAD21
as a cause of a new
cohesinopathy.
F. J. Kaiser, D. Braunholz, J. Wilde,
C. Gil-Rodriguez, M. Albrecht, D. Clark, A. Rampuri
W. Xu, I. D. Krantz, G. Gillessen-Kaesbach, H. Xu, J.
A. Horsfield, M. A. Deardorff.
29
/4:45
Pitt Hopkins syndrome: Further delineati
of the neurological phenotype. Description of 32
novel patients and proposition of a diagnostic
criteria score.
S. Whalen, A. Jacquette, T. Gaillon,
Moldovan, M. Rossi, F. Devillard, F. Giuliano, G.
Soares, M. Mathieu-Dramard, A. Afenjar, C. Mignot,
Burglen, L. Van Maldergem, S. Aftimos, G. Mancini,
Dias, N. Philip, A. Goldenberg, M. Le Merrer, D.
Josifova, A. Van Hagen, D. Lacombe, P. Edery, S.
Dupuis-Girod, M.-P. Alex, D. Sanlaville, M. Goossen
J. Amiel, D. Héron, I. Giurgea.
30
/5:00
Epidemiological features of Costello
syndrome and cardio-facio-cutaneous syndrome:
Findings from the first nationwide survey.
Y. Abe,
Aoki, S. Kuriyama, H. Kawame, N. Okamoto, K.
Kurosawa, H. Ohashi, S. Mizuno, T. Ogata, S. Kure,
Niihori, Y. Matsubara.
31
/5:15
Torwards the dissection of marfanoid
syndromes with intellectual disability.
L. Faivre, S.
Lambert, H. Dindy, C. Ragon, M. Payet, C. Francan
Y. Sznajer, A. Megarbane, N. Philip, P. Collignon, S.
Odent, L. Pasquier, A. Toutain, R. Missotte, C.
Baumann, M.-A. Delrue, C. Goizet, C. Thauvin-
Robinet, S. Julia, Y. Dulac, G. Jondeau, B. Aral, C.
Boileau, P. Callier.
32
/5:30
Disruption of a long-distance regulatory
region of
SOX9
in isolated 46, XX and 46, XY
disorders of sex determination.
S. Benko, C. T.
Gordon, R. Sreenivasan, D. Mallet, C. Tauvin-Robine
A. Brendehaug, S. Thomas, O. Bruland, D. David, D.
Sanlaville, P. Callier, F. Huet, A. Molven, A. Munnich,
Faivre, J. Amiel, V. Harley, G. Houge, Y. Morel, S.
Lyonnet.