Page 183 - ASHG 2013 Program Guide

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POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
1350
T Large deletion of the
PRRT2
gene frequently
involves paroxysmal dyskinesia in Korea.
S. J. Lee, M.
W. Seong, H. J. Kim, G. Ehm, H. J. Yang, Y. E. Kim, K. T.
Choi, S. S. Park, B. S. Jeon.
1351
F Epileptic encephalopathies of unknown
etiology: De novo mutations and pathway analysis.
S. Esmaeeli Nieh, G. Da Gente, H. C. Mefford, I. Scheffer,
A. Poduri, D. Dlugos, E. H. Sherr, EPGP and Epi4K
Investigators.
1352
W Assessing the potential clinical application of
SCN1A
genetic testing in Dravet and Doose epilepsy
syndromes.
M. C. Gonsales, C. V. Soler, R. R. Kieling, A.
Palmini, D. H. Nakanishi, M. L. Manreza, P. Preto, M. A.
Montenegro, M. M. Guerreiro, I. Lopes-Cendes.
1353
T Trio sequencing in malformations of cortical
development.
E. L. Heinzen, A. Poduri, Epi4K and EPGP
Investigators.
1354
F Linkage analysis and exome sequencing in a
large highly inbred consanguineous kindred to identify
idiopathic generalized epilepsy genes.
F. Tuncer, S. A.
Ugur Iseri, M. Calik, A. O. Caglayan, A. Iscan, M. Gunel,
U. Ozbek.
1355
W Mutation screening in the mitochondrial
D-loop region in FMR1 premutation carriers.
F. Silva, L.
Rodriguez-Revenga, I. Madrigal, M. I. Alvarez-Mora, D. M.
Elurbe, M. Milà.
1356
T “Game of Exomes” and autism spectrum
disorder.
M. Cuccaro, N. Dueker, E. R. Martin, A. J.
Griswold, H. N. Cukier, S. Slifer, J. Jaworski, I. Konidari,
P. L. Whitehead, M. Schmidt, J. R. Gilbert, J. L. Haines,
M. A. Pericak-Vance.
1357
F Role of
MAPT
variation in neurodegenerative
disorders.
C. Labbe, A. Ortolaza, S. Rayaprolu, R. Uitti,
D. Dickson, Z. Wszolek, O. Ross.
1358
W Whole genome sequencing in adults with
22
q11.2 deletion syndrome: A pilot study.
N. J. Butcher,
C. R. Marshall, A. S. Bassett.
1359
T Complete genome sequence-based family
analysis of monozygotic twins discordant for
schizophrenia.
C. Castellani, R. O’Reilly, S. Singh.
1360
F Whole genome DNA sequencing identifies
variants showing allelic association with bipolar
affective disorder.
A. Fiorentino, N. O’Brien, A. McQuillin,
A. Narula, A. Anjorin, R. Kandaswamy, R. Blizard, D.
Curtis, H. Gurling.
1361
W Whole genome sequencing for bipolar disorder.
A. E. Locke, M. Flickinger, T. DeAngelis, D. Absher, S.
Vrieze, S. Ramdas, B. Li, J. Li, M. Burmeister, L. Legrand,
M. Rivera, J. L. Sobell, W. G. Iacono, M. McGue, C. N.
Pato, M. T. Pato, J. A. Knowles, G. Breen, J. B. Vincent,
M. McInnis, G. Abecasis, H. M. Kang, L. J. Scott, S.
Levy, R. M. Myers, M. Boehnke, on behalf of Bipolar
Research in Deep Genome and Epigenome Sequencing
(
BRIDGES) Study.
1340
W Exome sequencing of Parkinson’s disease in
order to identify genetic variants with high disease
risk.
W. Satake, Y. Suzuki, Y. Ando, H. Tomiyama,
M. Yamamoto, M. Murata, N. Hattori, S. Tsuji, S. Sugano,
T. Toda.
1341
T Clinical exome sequencing identifies two
novel
IQSEC2
mutations associated with X-linked
intellectual disability with seizures: Implications for
genetic counseling and clinical diagnosis.
S. Tang,
S. K. Gandomi, K. D. Farwell Gonzalez, L. Shahmirzadi,
J. Mancuso, P. Pichurin, R. Temme, S. Dugan, W. Zeng.
1342
F Homozygosity mapping and exome sequencing
in consanguineous Pakistani pedigrees with autism
spectrum disorder and intellectual disability.
L. Xiong,
S. Li, C. S. Leblond, S. Laurent, Q. Jiang, S. Zhou, D.
Spiegelman, A. Ambalavanan, M. Christian, C. Caron,
B. Forgeot d’Arc, S. Rasheed, Z. A. Nanjiani, M. Q. Brohi,
L. Mottron.
1343
W Mutations in the mitochondrial chaperone
TRAP1
are associated with the triad of chronic fatigue,
pain and gut dysmotility: Crazy, criminal, or just caught
in the
TRAP
?
R. G. Boles, L. R. Susswein, S. A. Wong, K.
J. McKernan, A. S. Zare, T. R. Foss, H. A. Hornung, K. M.
Sheldon.
1344
T Genetic causes of intellectual disability in
22
q11.2 deletion syndrome patients.
T. Guo, T. Wang,
J. Chung, J. Cai, D. McDonald-McGinn, A. S. Bassett, E.
Chow, M. Bowser, K. Devriendt, A. Swillen, J. Breckpot,
A. Marie Higgins, N. Philip, C. Bearden, K. Coleman,
D. Heine-Suner, J. Rosell, E. Zackai, M. Schneider, S.
Dahoun, S. Eliez, M. Armando, S. Vicari, M. Cristina
Digilio, A. Weizman, D. Gothelf, R. Shprintzen, W. Kates,
B. Emanuel, B. Morrow, International Chromosome
22
q11.2 Consortium.
1345
F Novel dominant associations with PANS,
autism, anxiety, pain, fatigue and GI dysmotility
identified by NextGen sequencing the 1,100 MitoCarta
genes in 270 probands.
L. R. Susswein, K. M. Sheldon,
T. Foss, A. Zare, K. J. McKernan, S. A. Wong, R. R.
Trifiletti, R. G. Boles.
1346
W Major depression susceptibility loci identified
using whole genome sequencing in extended
pedigrees.
E. E. M. Knowles, M. A. A. De Almeida, J. W.
Kent, T. D. Dyer, J. E. Curran, H. H. Goring, M. A. Carless,
R. L. Overa, D. R. McKay, E. Sprooten, J. Blangero,
D. C. Glahn.
1347
T Deletions between 1 and 30 kb associate with
risk for autism.
J. D. Buxbaum, C. S. Poultney, A. P.
Goldberg, M. Fromer, E. Drapeau, H. Harony-Nicolas, Y.
Kajiwara, S. de Rubeis, S. Durand.
1348
F Contribution of
LIN7A
to developmental
disorder.
A. Matsumoto, M. Mizuno, N. Hamada, E.
Jimbo, K. Kojima, M. Y. Momoi, K. Nagata, T. Yamagata.
1349
W Cross-disorder copy number variation analysis
of Tourette syndrome and obsessive-compulsive
disorder.
J. M. Scharf, on behalf of TSAICG and IOCDFGC.