Page 177 - 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
1214
W Association between serotonin transporter
variant,
5-
HTTLPR
,
and hoarding traits in a population-
based pediatric sample.
V. Sinopoli, A. Dupuis, C.
Burton, J. Crosbie, J. Shan, R. Schachar, P. Arnold.
1215
T Disruption of a large intergenic noncoding RNA,
FLJ42709
,
is associated with developmental delay and
language disorder.
S. Fan, L. Dukes-Rimsky, S. Ladd,
B. R. DuPont, C. Skinner, L. Wang, K. B. Clarkson, A. K.
Srivastava.
1216
F Gene-based association analysis of
Alzheimer’s disease risk gene
CD33
with brain
amyloid-
b
burden and microglial activity measured
by PET.
K. T. Nho, S. Shanker, S. Kim, S. L. Risacher,
V. K. Ramanan, L. Shen, K. K. Yoder, P. S. Aisen, R. C.
Petersen, M. W. Weiner, B. C. McDonald, E. F. Tallman,
G. D. Hutchins, J. W. Fletcher, M. R. Farlow, B. Ghetti,
A. J. Saykin, for Alzheimer’s Disease Neuroimaging
Initiative (ADNI).
1217
W Association of ADH and ALDH variants with
alcohol-related phenotypes in a Native American
community sample.
Q. Peng, I. R. Gizer, O. Libiger, C.
Bizon, K. C. Wilhelmsen, N. J. Schork, C. L. Ehlers.
1218
T Characterization and replication of chromosome
15
q25 nicotine dependence signals in an old order
Amish population.
J. D. Backman, A. D. Million-Mrkva,
L. E. Hong, M. A. Ehringer, B. D. Mitchell, A. R. Shuldiner,
K. A. Ryan, K. L. Nugent, S. H. Stephens.
1219
F Phospholipid flippase
ATP8A2
is essential
for normal visual and auditory function and
photoreceptor and spiral ganglion cell survival.
X. Zhu, Y. Zhou, X. Zhu.
1220
W Mutations in secretin receptor may be related
to autism spectrum disorder.
K. Kojima, T. Yamagata,
A. Matsumoto, Z. Yang, S. Nakamura, E. F. Jimbo, M. Y.
Momoi.
1221
T Hypermethylation of the enolase gene (
ENO2
)
in
autism: A candidate biomarker for screening.
N. Zhong,
Y. Wang.
1222
F Application of causal inference methods to
investigate APOE variation and cognitive impairment
in multiple sclerosis.
E. Elboudwarej, P. Yousefi, L. Shen,
M. F. George, H. Quach, F. B. S. Briggs, A. Bernstein, C.
Schaefer, L. F. Barcellos.
1223
W Social skills impairments in girls with Turner
syndrome.
M. Inbar-Feigenberg, D. Grafodatskaya,
S. Choufani, B. H. Y. Chung, L. J. Roberts, C. Russell,
W. Roberts, J. Hamilton, R. Weksberg.
1224
T Examining the role of the 1q deletion critical
region gene
SCCPDH
in early brain development in
zebrafish
E. A. Burke, W. A. Gahl, C. F. Boerkoel.
1225
F Investigation of the role of serotonin pathway in
the etiology of Tourette’s syndrome.
N. Sun, Z. Pang,
L. Deng, R. A. King, M. Sheldon, J. C. Moore, R. P. Hart,
M. Konsolaki, G. A. Heiman, J. A. Tischfield.
1204
F De novo deletion of 1q21.1 and Xq28 duplication
in a family with developmental delay.
K. Ha, H. Cho,
L. Layman, H. Kim.
1205
W The first familial null mutation of an autism
susceptibility gene in autism spectrum disorder.
N. Lambert, V. Wermenbol, B. Pichon, S. Acosta, J. van
den Ameele, C. Perazzolo, D. Messina, F. Musumeci,
B. Dessars, A. De Leener, M. Abramowicz, C. Vilain.
1206
T Use of a custom-designed array-CGH to
identify small CNVs in nonsyndromic autism spectrum
disorders.
C. M. Ribeiro, E. S. Moreira, A. L. B. Martins, A.
G. Morales, S. G. Ferreira, V. N. Takahashi, D. P. Moreira,
K. Griesi-Oliveira, A. C. F. Conte, C. Rosenberg, E. Vadasz,
M. R. Passos-Bueno.
1207
F Linkage disequilibrium mapping of the 13q21
specific language impairment locus using epistasis
analysis models.
S. L. Wolock, N. Li, S. A. Petrill, J. F.
Flax, A. S. Bassett, L. M. Brzustowicz, C. W. Bartlett.
1208
W Evidence for the involvement of
MIR185
and its
target genes in the development of schizophrenia.
A.
J. Forstner, F. B. Basmanav, M. Mattheisen, A. C. Böhmer,
M. V. Hollegaard, E. Janson, E. Strengman, L. Priebe, F.
Degenhardt, P. Hoffmann, S. Herms, W. Maier, R. Mössner,
D. Rujescu, R. A. Ophoff, S. Moebus, P. B. Mortensen,
A. D. Børglum, D. M. Hougaard, M. Rietschel, A. Zimmer,
M. M. Nöthen, X. Miro, S. Cichon.
1209
T Identification of novel mutations in
SLC20A2
and
PDGFRB
in a brain bank series of IBGC.
M. Sanchez-
Contreras, M. Baker, N. Finch, A. Nicholson, A. Wojtas,
A. J. Strongosky, D. B. Calne, S. Calne, A. J. Stoessl,
J. E. Allanson, D. F. Broderick, M. Hutton, D. W. Dickson,
O. A. Ross, Z. K. Wszolek, R. Rademakers.
1210
F Extreme genetic heterogeneity among rare
copy number variation in autism spectrum disorders.
M. Barbosa, A. G. Chiocchetti, D. Haslinger, R. Waltes,
E. Duketis, T. Jarczok, M. Sachse, F. Poustka, A. Voran,
E. Huy, F. Degenhardt, S. Herms, P. Hoffmann, J. Meyer,
M. M. Biscaldi-Schäfer, K. Schneider-Momm, B. G.
Schimmelmann, S. Kupferschmid, B. Herpertz-Dahlmann,
S. Gilsbach, S. Moebus, S. Cichon, S. M. Klauck, D. Pinto,
C. M. Freitag.
1211
W Different homozygous mutations in
PARKIN
gene are responsible for early onset Parkinson’s
disease in Arab-Israeli families that live in close
vicinity.
S. Ben-Shachar, Z. Afawi, R. Masalha, S. Badarny,
T. Neiman, A. Bar-Shira, A. Orr Urtreger.
1212
T Transcriptome outlier analysis implicates
schizophrenia candidate genes as harboring rare
functional variants of large effects.
J. Duan, W. Moy, J.
Freda, E. I. Drigalenko, H. H. H. Göring, A. R. Sanders, P. V.
Gejman, Molecular Genetics of Schizophrenia Collaboration.
1213
F Molecular genetic study on a Japanese family
with amyotrophic lateral sclerosis.
Y. Ichikawa, H.
Ishiura, J. Mitsui, S. Endo, Y. Takahashi, A. Ishii, M.
Watanabe, A. Tamaoka, M. Murata, K. Doi, J. Yoshimura,
S. Morishita, J. Goto, S. Tsuji.