Page 228 - ASHG 2012 Annual Meeting Program Guide

POSTER SESSIONS
217
POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
2572
T Targeted sequencing reveals association of sets
of rare variants in novel candidate genes as well as cell
adhesion and GTPase regulatory pathways with autism
spectrum disorder.
A. J. Griswold, J. M. Jaworski, S. H.
Slifer, D. J. Hedges, R. H. Chung, W. F. Hulme, I. Konidari,
P. L. Whitehead, J. A. Rantus, A. R. Diaz, Y. M. Pasco, R.
M. Tursi, S. M. Williams, R. Menon, M. L. Cuccaro, E. R.
Martin, J. L. Haines, J. R. Gilbert, J. P. Hussman, M. A.
Pericak-Vance.
2573
F Multiple hits in the neuregulin signaling pathway
in schizophrenia.
A. Hatzimanolis, J. McGrath, P.
Wolyniec, V. K. Lasseter, G. Nestadt, R. Wang, T. Li, P.
Wong, D. Valle, A. E. Pulver, D. Avramopoulos.
2574
W Discovery of rare variants of candidate
genes related to nicotine dependence through deep
sequencing.
S. Wang, W.-Y. Cui, Z. Yang, J. Yang, J. Z.
Ma, T. J. Payne, C. A. Hodgkinson, D. Goldman, M. D. Li.
2575
T Rare deletions at the gephyrin (
GPHN
)
locus
in autism spectrum disorder and schizophrenia.
A.
C. Lionel, A. K. Vaags, D. Sato, M. J. Gazzellone, H. Y.
Chen, G. Costain, G. Egger, S. Walker, A. Prasad, C. R.
Marshall, E. B. Mitchell, C. Windpassinger, J. B. Vincent,
B. A. Fernandez, S. Kirmani, J. C. Hodge, A. S. Bassett, S.
W. Scherer.
2576
F Reciprocal duplication of the Williams-Beuren
syndrome deletion on chromosome 7q11.23 is
associated with schizophrenia.
J. G. Mulle, A. E. Pulver,
J. M. McGrath, P. Wolyniec, A. F. Dodd, D. J. Cutler, J.
Sebat, D. Malhotra, G. Nestadt, D. F. Conrad, C. P. Barnes,
M. Hurles, M. Ikeda, N. Iwata, D. Levinson, P. V. Gejman,
A. R. Sanders, J. Duan, A. A. Mitchell, I. Peter, P. Sklar, C.
T. O’Dushlaine, D. Grozeva, M. C. O’Donovan, M. J. Owen,
C. M. Hultman, A. K. Kähler, P. F. Sullivan, G. Kirov, S. T.
Warren, Molecular Genetics of Schizophrenia Consortium.
2577
W Assessing the impact of different types of de
novo rare variation in whole-exome sequenced autism
spectrum disorders trio families.
D. Pinto, M. Fromer,
A. Goldberg, S. M. Purcell, P. Sklar, E. Boerwinkle, M. J.
Daly, B. Devlin, E. H. Cook, K. Roeder, R. A. Gibbs, G. D.
Schellenberg, J. S. Sutcliffe, M. W. State, J. D. Buxbaum
on behalf of ARRA Autism Sequencing Consortium and
Autism Sequencing Consortium.
2578
T Etiologic rare variants in autism multiplex
families: Exome and CNVs analyses.
C. Toma, A. Tristán,
A. Hervás, B. Torrico, R. Valdés-Mas, N. Balmaña, M.
Maristany, X. S. Puente, M. Bayés, B. Cormand.
2579
F Utility of a comprehensive multi-gene testing
panel for epilepsy and evaluation of the expectations
for whole exome sequencing in these disorders.
G. Richard, E. Butler, D. McKnight, K. Retterer, A.
Shanmugham, R. Rubenstein, K. Hruska, E. Haverfield, S.
Aradhya.
2580
W Rare variants within
PAX6
enhancer elements
are enriched in rolandic epilepsy.
L. Addis, T. Chiang,
A. Derkach, S. Newhouse, S. Dobbins, I. Tomlinson, R.
Houlston, L. J. Strug, D. K. Pal.
2561
F Host genetic contribution to development
of progressive multifocal leukoencephalopathy in
the presence of immune suppression or immune-
modulating drugs.
J. P. Carulli, C. Sun, S. Szak, C. Organ,
A. G. Day-Williams, C. Liu, H. H. Ackerman, T. Olsson,
F. Piehl, P. Cinque, C. S. Tan, I. J. Koralnik, R. P. Viscidi,
L. Gorelik, K. Simon, P. Duda, T. Harris, S. Bushnell,
T. Compton.
2562
W Disruption of a large intergenic non-coding
RNA in subjects with neurodevelopmental disabilities.
C. Ernst, M. Talkowski, J. Gusella, C. Morton.
2563
T A rare haplotype containing two
AKAP9
missense mutations identified by whole-exome
sequencing is associated with risk of Alzheimer
disease in African Americans.
M. W. Logue, M. Schu,
B. N. Vardarajan, J. Farrell, C. T. Baldwin, M. D. Fallin, L.
A. Farrer.
2564
F Transposable elements in schizophrenia:
evolutionary analysis and hypothesis for a functional
role.
F. Macciardi, M. Vawter, T. VanErp, F. Torri, B. Lerer,
E. Osimo, J. A. Knowles, S. G. Potkin, C. Pato, M. Pato,
S. Gaudi.
2565
W Whole-genome sequencing of 50
LRRK2
G2019S
carriers discordant for Parkinson’s disease.
C. Y.
McLean, E. Drabant, E. Harrington, C. B. Do, N. Eriksson.
2566
T Cumulative mutation load in PDZ domains 4,
5,
and 6 of glutamate receptor interacting protein 2 in
autism.
T. Niranjan, A. Adamczyk, M. Han, R. Mejias, R.
Rose, H. Bravo, M. Taub, C. Schwartz, D. Valle, R. Huganir,
T. Wang.
2567
F Candidate genes for sleepwalking from exome
sequencing in an autosomal-dominant family.
B.
Schormair, H. Slawik, B. Frauscher, T. Mitterling, E. Graf, T.
Wieland, B. Högl, T. M. Strom, M. Wiegand, T. Meitinger, J.
Winkelmann.
2568
W Rare variants in GWAS loci of restless legs
syndrome.
E. C. Schulte, F. Knauf, B. Schormair, P.
Lichtner, C. Trenkwalder, B. Högl, B. Frauscher, K. Berger,
I. Fietze, N. Gross, K. Stiasny-Kolster, M. Hornyak, W.
Oertel, C. G. Bachmann, W. Paulus, A. Zimprich, A. Peters,
C. Gieger, B. Müller-Myshok, T. Meitinger, J. Winkelmann.
2569
T Exome analysis for early-onset amyotrophic
lateral sclerosis with autosomal recessive mode of
inheritance.
Y. Takahashi, K. Higasa, S. Takagi, T. Kurita,
H. Ishiura, J. Mitsui, Y. Fukuda, J. Yoshimura, T. L. Saito,
S. Morishita, J. Goto, S. Tsuji.
2570
F Identification of candidate genes through
analysis of copy number variation in autism families
from Austria.
J. B. Vincent, G. Egger, A. Lionel,
H. Mahmood, A. Mikhailov, K. Roetzer, C. Windpassinger,
W. Kaschnitz, S. W. Scherer, E. Petek.
2571
W Genetic and functional study of the disks large-
associated protein 2 (
DLGAP2
)
gene as a candidate
gene of schizophrenia.
M. Cheng, J. Li, S. Luu, S. Hsu,
T. Hu, H. Tsai, C. Chen.