Page 229 - ASHG 2012 Annual Meeting Program Guide

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POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
2591
F Identification of the causative gene for SPG27
by exome capture.
A. Noreau, I. A. Meijer, S. L. Girard, D.
Spiegelman, A. Szuto, P. Cossette, P. A. Dion, G. A. Rouleau.
2592
W
DEC2
gene mutations associated with distinct
sleep phenotypes and sleep length.
R. Pellegrino, I.
H. Kavakli, N. Goel, C. Cardinale, D. Dinges, S. Tufik, J.
Hogenesh, A. Pack, H. Hakonarson.
2593
T Common and rare variants in obsessive-
compulsive disorder identified by exome and targeted
resequencing.
D. Trujillano, S. Ossowski, P. Alonso, C.
Tornador, J. M. Menchón, M. Gratacòs.
2594
F Deep whole genome sequencing in 18 Irish
individuals with schizophrenia.
B. T. Webb, E. Loken,
T. B. Bigdeli, B. Wormley, F. A. O’Neill, D. Walsh, K. S.
Kendler, B. P. Riley.
2595
W The genetic architecture of severe non-
syndromic sporadic intellectual disability.
T. Wieland, D.
Wieczorek, E. Graf, S. Endele, T. Schwarzmayr, J. Beygo,
N. Di Donato, A. Dufke, M. Hempel, D. Horn, P. Joset, A.
Röpke, U. Moog, E. Wohlleber, C. Zweier, A. B. Ekici, A.
M. Zink, A. Rump, C. Meisinger, H. Grallert, H. Sticht, A.
Schenck, H. Engels, G. Rappold, P. Wieacker, O. Riess, T.
Meitinger, A. Reis, T. M. Strom, A. Rauch.
2596
T A spectrum of mutations in 12 PLP1-related
disorders in patients from SARAH network of
rehabilitation hospitals in Brazil.
S. C. L. Santos, D. R.
Carvalho, R. I. Takata, C. E. Speck-Martins.
2597
F Association between the NMDA receptor
subunit 2B gene (
GRIN2B
)
gene and Alzheimer’s
disease.
F. Trecroci, R. Cittadella, M. Liguori, F. Condino,
P. Spadafora, E. V. De Marco, G. Di Palma, V. Andreoli.
2598
W Rare missense variants in
CHRNA5
and
CHRNB3
are associated with increased risk of alcohol
and cocaine dependence.
G. Haller, J. Budde, M.
Kapoor, A. Agrawal, H. Edenberg, J. Kramer, L. Bierut, A.
Goate.
2599
T Excess of rare variants from targeted
resequencing of the
NKAPL
gene in schizophrenia.
E. K. Loken, D. Brohawn, D. Walsh, F. A. O’Neill, K. S.
Kendler, B. P. Riley.
2600
F Exome sequencing of singleton trios and quads
to reveal de novo mutations in schizophrenia.
A. C.
Watts, T. Walsh, M. K. Lee, S. Gulsuner, A. M. Thornton, J.
McClellan, M. C. King, Genes in Schizophrenia (GENESIS)
Consortium.
2601
W Novel missense mutations and partial
deficiency of collagen VI in Ullrich congenital muscular
dystrophy.
J. Yuan, I. Higuchi, Y. Sakiyama, Y. Inamori,
E. Matsuura, Y. Higuchi, A. Yoshimura, A. Hashiguchi, K.
Higashi, Y. Koreeda, K. Arimura, H. Takashima.
2602
T Searching for the genes of Tourette’s: The
Tourette International Collaborative Genetics Study.
G.
A. Heiman, T. V. Fernandez, P. J. Hoekstra, A. Dietrich, R.
A. King, M. W. State, J. A. Tischfield, TIC Genetics Team.
2581
T Mutations in the novel protein PRRT2 cause
paroxysmal kinesigenic dyskinesia with infantile
convulsions.
H.-Y. Lee, Y. Huang, N. Bruneau, M.
Hermann, E. Quinn, J. Maas, R. Edwards, K. Bhatia, M. K.
Bruno, H. Houlden, J. Jankovic, W. Lee, U. Müller, B.-W.
Soong, K. J. Swoboda, N. Wood, M. Hanna, A. Bowcock,
P. Szepetowski, Y.-H. Fu, L. J. Ptacek.
2582
F Identification of rare variants under an
alcoholism susceptibility linkage peak in a COGA
family using whole exome sequencing.
M. Kapoor, J.
Wang, A. Hinrichs, S. Bertelsen, J. Budde, A. Agrawal, J.
Tischfield, L. Almasy, M. Schuckit, L. Bierut, A. Goate.
2583
W Deep resequencing of 9 confirmed late-onset
Alzheimer disease loci identifies multiple genomic
regions with potentially functional variants.
J. R.
Gilbert, A. C. Naj, L. Wang, M. A. Kohli, K. L. Hamilton, R.
Rajbhandary, P. L. Whitehead, R. M. Carney, B. Levin, E.
A. Crocco, C. B. Wright, G. W. Beecham, E. R. Martin, S.
Zuchner, J. L. Haines, M. A. Pericak-Vance.
2584
T Whole exome sequencing in childhood-onset
schizophrenia.
K. Ahn, H. Sung, T. Anderson, Y. Yao, J.
Rapoport.
2585
F Complete genome sequence based genetic
analysis of monozygotic twins discordant for
schizophrenia.
C. Castellani, R. O’Reilly, S. Singh.
2586
W Exome sequencing of extended pedigrees
with late-onset Alzheimer disease identifies
TTC3
as
a candidate gene for AD.
K. Hamilton, M. A. Kohli, A.
C. Naj, R. Rajbhandary, T. Plitnik, K. John-Williams, P. L.
Whitehead, J. R. Gilbert, E. R. Martin, G. W. Beecham, J.
L. Haines, S. Zuchner, M. A. Pericak-Vance.
2587
T Exome sequencing reveals de novo gene
disruptions in children on the autistic spectrum.
I.
Iossifov, M. Ronemus, D. Levy, Z. Wang, I. Hakker, J.
Rosenbaum, B. Yamrom, Y. Lee, G. Narzisi, A. Leotta, J.
Kendall, E. Grabowska, B. Ma, L. Rodgers, J. Troge, P.
Andrews, E. Ghiban, J. Parla, R. Demeter, L. L. Fulton, R.
S. Fulton, V. J. Magrini, K. Ye, J. C. Darnell, R. B. Darnell,
E. R. Mardis, R. K. Wilson, M. C. Schatz, W. R. McCombie,
M. Wigler.
2588
F Secretin receptor and the associated molecular
processes relevant to autism spectrum disorder.
K.
Kojima, T. Yamagata, A. Matsumoto, M. Saito, E. F. Jimbo,
M. Y. Momoi.
2589
W Exome sequencing of multiplex, schizophrenic
families implicate variants from chromosome 5q in
neurocognitive performance.
M. Z. Kos, M. A. Carless,
J. Peralta, E. E. Quillen, R. C. Gur, M. F. Pogue-Geile,
K. Prasad, J. Blangero, V. L. Nimgaonkar, R. E. Gur, L.
Almasy.
2590
T Mining for rare genetic variation underlying
psychiatric disorders using family-based sequencing.
S. McCarthy, J. Badner, D. Morris, M. Ayub, M. Kramer, D.
Blackwood, A. Corvin, W. Byerley, W. R. McCombie.