Page 230 - ASHG 2012 Annual Meeting Program Guide

POSTER SESSIONS
219
POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
2615
F Data sharing in the genomic age: Genome
Variant Database for Neuromuscular Diseases.
M.
Gonzalez, R. F. Acosta Lebrigio, S. Zuchner.
2616
W X-linked Charcot-Marie-Tooth disease type 1
in Japan: Genetic, clinical, and electrophysiological
study of 33 cases.
Y. Higuchi, A. Yoshimura, T.
Nakamura, S. Tokunaga, A. Hashiguchi, Y. Okamoto, H.
Takashima.
2617
T De novo mutations in autism spectrum disorders
revealed by whole genome sequencing.
Y. Jiang, X. Jin,
J. Yu, R. K. Yuen, D. Cao, M. Wang, S. Walker, L. Lau, D.
Merico, Y. Shi, Q. Xu, B. Zhou, Z. Hu, B. Cheng, N. Chen,
J. Mei, K. Xia, X. Xu, Y. Wang, Y. Wu, J. Wang, J. Wang,
C. Lajonchere, G. Dawson, H. Yang, A. Shih, B. Devlin, Z.
Sun, S. W. Scherer, Y. Li.
2618
F Analysis of low-frequency, protein altering
variation in 13,000 individuals from a Swedish
schizophrenia cohort on the exome array.
B. M. Neale,
J. Goldstein, C. O
Dushlaine, M. Fromer, G. Genovese, J.
L. Moran, K. Chambert, C. M. Hultman, P. Sklar, S. Purcell,
M. J. Daly, P. F. Sullivan, S. McCarroll.
2619
W Search for rare-variant risks of Parkinson’s
disease by sequencing of candidate genes and exome
sequencing.
W. Satake, Y. Suzuki, Y. Ando, T. Nishioka, K.
Syoji, H. Tomiyama, M. Yamamoto, M. Murata, N. Hattori,
S. Sugano, T. Toda.
2620
T Rare combination of inherited mutations
in a large multigenerational pedigree with autism
spectrum disorder and co-morbid neurodevelopmental
disorders.
P. Szatmari, O. Migita, I. O’Connor, A. Prasad,
D. Sato, S. Walker, A. Thompson, S. W. Scherer, D. Pinto.
2621
F Resequencing of 17 genes in the N-methyl-D-
aspartate glutamate system to identify rare variants
affecting risk of substance dependence.
P. Xie, H. R.
Kranzler, J. H. Krystal, L. A. Farrer, H. Zhao, J. Gelernter.
2622
W Widespread novel RNA editing in human brain
tissue, identified by RNA-seq.
L. Hou, N. Akula, J.
Wendland, D. T. Chen, X. Jiang, K. Choi, B. K. Lipska, J. E.
Kleinman, F. J. McMahon.
2623
T Association of the polymorphisms of
ITPK1
gene
in inositol metabolic pathways with NTDs.
Z. Guan, J.-
H. Wang, J. Guo, F. Wang, X.-W. Wang, G.-N. Li, Q. Xie, X.
Han, B. Niu, T. Zhang.
2624
F High apolipoprotein E4 allele frequency in FXTAS
patients.
M. Mila, F. Silva, I. Madrigal, M.-I. Alvarez-Mora,
R. Oliva, L. Rodriguez-Revenga.
2625
W Generation and characterization of induced
pluripotent stem cells from patients with the
autosomal dominant disorder spinocerebellar ataxia
type 1.
N. Mollema, A. Shanmugam, E. Leathley, D.
Kaufman, H. T. Orr.
2603
F Evidence for involvement of
EIF4G1
,
not
VPS35
variations in Parkinson disease.
J. Vance, K. Nuytemans,
G. Bademci, V. Inchausti, S. Zuchner, A. Dressen, C.
Jauregio, D. D. Kinnamon, A. Mehta, Y. Pasco, A. Aviram, A.
Diaz, L. Wang, F. Nahab, C. Singer, W. Hulme, I. Konidari, Y.
Edwards, G. Beecham, E. R. Martin, W. K. Scott.
2604
W Revealing the complex nature of a monogenic
disease: Exome sequencing of Rett syndrome.
F. Ariani,
M. A. Mencarelli, E. Grillo, L. Bianciardi, I. Meloni, C. Di
Marco, C. Lo Rizzo, F. Mari, A. Renieri.
2605
T De novo indels in autism spectrum disorders.
S.
Dong, S. Sanders, A. J. Willsey, M. Murtha, N. DiLullo, L.
Wei, M. State.
2606
F Resequencing and promoter methylation
analysis of the dopamine D2 receptor gene in
schizophrenia.
Y. Chuang, M. Cheng, C. Lu, M. Tsai, Y.
Shen, S. Hsu, C. Chen.
2607
W A comprehensive genetic analysis of 421
Japanese patients with Charcot-Marie-Tooth
disease using DNA microarray chips.
A. Hashiguchi,
A. Yoshimura, Y. Higuchi, T. Nakamura, S. Tokunaga, Y.
Okamoto, H. Takashima.
2608
T A new frameshif mutation in the dopamine
receptor D4 exon III VNTR 7-repeat allele.
D. S. S. Lobo,
M. Tampakeras, N. Freeman, J. L. Kennedy.
2609
F
SPG4
mutations in Brazilian patients with
hereditary spastic paraplegia.
I. Lopes-Cendes, D. B.
Dogini, C. Cartaxo, S. Raskin, H. A. G. Teive, J. Saute, L.
B. Jardim, M. C. França, Jr.
2610
W Changes in the human transcriptome caused by
LMNB1 duplication in a case of autosomal dominant
leukodystrophy: An RNA-seq study.
P. Cherukuri, D.
Simeonov, K. Fuentes-Fajardo, P. Zumbo, C. Mason, S.
Lin, Y. H. Fu, C. Boerkoel, T. Markello, W. Gahl, C. Toro.
2611
T Exome sequencing of young onset sporadic
amyotrophic lateral sclerosis trios.
A. E. Renton, J. R.
Gibbs, J. O. Johnson, M. A. Nalls, C. Sassi, Y. Abramzon,
C. Edsall, G. Restagno, M. Sabatelli, A. Chiò, B. J. Traynor.
2612
F
PRRT2
gene missense mutations account for
both paroxysmal kinesigenic dyskinesia and infantile
convulsions in a Chinese pedigree.
C. Cai, W. D. Li.
2613
W Whole-exome sequencing and homozygosity
analysis to dissect autism, a complex genetic disorder.
M. H. Chahrour, T. W. Yu, E. T. Lim, B. Ataman, M. E.
Coulter, R. S. Hill, C. R. Stevens, C. R. Schubert, ARRA
Autism Sequencing Collaboration, M. E. Greenberg, S. B.
Gabriel, C. A. Walsh.
2614
T Gene-based rare variant analyses reveal loci
associated with autism spectrum disorder.
N. Dueker,
E. R. Martin, A. J. Griswold, H. N. Cukier, S. Slifer, J.
Jaworski, I. Konidari, P. L. Whitehead, M. Schmidt, D.
J. Hedges, D. Martinez, S. Clarke, M. L. Cuccaro, J. R.
Gilbert, J. L. Haines, M. A. Pericak-Vance.