Page 181 - ASHG 2013 Program Guide

168  
POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
1307
W
VRK1
mutations associated with complex
motor and sensory axonal neuropathy plus
microcephaly.
W. Wiszniewski, C. Gonzaga-Jauregui,
T. Lotze, L. Jamal, S. Penney, I. Campbell, D. Pehlivan,
J. Hunter, S. Woodbury, G. Raymond, A. Adesina, S.
Jhangiani, J. Reid, D. Muzny, E. Boerwinkle, R. Gibbs,
J. Lupski, Centers for Mendelian Genomics.
1308
T Evidence for phenotypically-linked bounds
on the role of de novo loss of function variation in
autism spectrum disorders.
E. B. Robinson, K. E.
Samocha, J. Kosmicki, L. M. McGrath, B. M. Neale,
M. J. Daly.
1309
F Phenotypic categorization of putative
pathogenic copy number variants in a population
of autism spectrum disorder patients.
I. C. Conceição,
B. Oliveira, C. Correia, M. Rama, J. Coelho, C. Café,
J. Almeida, S. Mouga, F. Duque, G. Oliveira, A. M. Vicente.
1310
W Fragile X, intermediate, and premutation
alleles in the Autism Genetic Resource Exchange.
W. Brown, A. Glicksman, X. Ding, N. Ersalesi, C. Dobkin,
S. Nolin.
1311
T Genome-wide association study identifie
variants for major depression through age at onset
stratification
R. A. Power, K. Tansey, H. Buttenschøn,
H. Lee, S. Cohen-Woods, S. Ripke, N. R. Wray,
Psychiatric GWAS Consortium - MDD Working Group,
C. M. Lewis.
1312
F Divergent and convergent quantitative
dysmorphic phenotypes among neuropsychiatric
patients with rare de novo copy number variants.
C. K. Deutsch, F. Momen-Heravi, R. Francis, A. T. Hunt,
J. M. Stoler, L. B. Holmes, J. Sebat.
1313
W Late-onset Alzheimer disease neuropathology
genomic screen identifies novel loci for neuritic
plaque and other AD neuropathology features.
K.
L. Hamilton-Nelson, G. W. Beecham, A. C. Naj, L.-S.
Wang, E. R. Martin, R. Mayeux, J. L. Haines, L. A. Farrer,
G. D. Schellenberg, M. A. Pericak-Vance, T. J. Montine,
Alzheimer’s Disease Genetics Consortium.
1314
T Canine multiple system degeneration is
associated with distinct
SERAC1
mutations in two
different dog breeds.
J. Guo, R. Zeng, G. S. Johnson,
T. Mhlanga-Mutangadura, E. Morava, T. Kozicz, J. F. Taylor,
D. P. O’Brien, R. D. Schnabel.
1315
F Does gene function predict cognition and
behaviour in X-linked intellectual disability?
K. Baker,
G. Scerif, D. E. Astle, P. C. Fletcher, F. L. Raymond.
1316
W Serotonin transporter methylation and
response to cognitive behaviour therapy in child
anxiety disorders.
S. Roberts, K. J. Lester, C. C. Y.
Wong, J. L. Hudson, C. Creswell, J. Mill, T. C. Eley.
1317
T Using transcriptomic data to understand the
processes involved in antidepressant treatment
response.
K. Hodgson, K. E. Tansey, G. Coppola, G.
Breen, R. Uher, P. McGuffin.
1294
F Genome-wide linkage analysis suggests
oligogenic regulation of the human parieto-occipital
10-
Hz rhythmic activity.
E. Salmela, H. Renvall, M. Vihla,
J. Kujala, R. Salmelin, J. Kere.
1295
W Genetic resilience to neurodegeneration in
the presence of tau pathology.
T. Hohman, M. Koran,
T. Thornton-Wells.
1296
T Genetic interactions found between calcium
channel genes modulate amyloid load measured by
positron emission tomography.
M. Koran, T. Hohman, T.
Thornton-Wells, Alzheimer’s Disease Neuroimaging Initiative.
1297
F Genetic interactions within inositol-related
pathways are associated with longitudinal changes
in ventricle size.
T. Thornton-Wells, T. Hohman, S. Meda,
M. Koran.
1298
W Associations of the rs4818 polymorphism in
the
COMT
gene with demyelination of the inferior
longitudinal fasciculus in the white matter of the brain
and cognition in schizophrenia patients.
Z. Kikinis, K.
Green, M. Giwerc, S. Bouix, N. Makris, N. Schreiber, G.
Corfas, R. Kucherlapati, R. Kikinis, M. Kubicki, M. E. Shenton.
1299
T Identification of obust biomarkers of neuronal
and glial metabolic changes in spinocerebellar ataxia
type 1,2,3 and 7.
F. Mochel, I. Mawusi, T. M. Nguyen, D.
Rinaldi, C. Jauffret, R. Valabregue, P. G. Henry, A. Brice,
A. Durr.
1300
F Analysis of structural variants in the
DISC1
gene: Association test with P300 ERP and brain
volumes.
V. De Luca, G. Spalletta.
1301
W Clinical and molecular investigation of
spinocerebellar ataxia with hypogonadism: Not so
far, not so close.
C. Lourenco, C. Sobreira, P. Frassinete
de Medeiros, M. Gonzalez, F. Speziani, S. Zuchner, W.
Marques, Jr.
1302
T Novel
ATM
mutation in late-onset autosomal
recessive cerebellar ataxia with neuropathy.
H.
Shimazaki, R. Sugaya, J. Honda, A. Meguro, I. Nakano.
1303
F Modeling collybistin deletion neuropathology in
induced pluripotent stem cells (iPSC)-derived neurons.
A. Sertie, K. G. Oliveira, C. O. F. Machado, C. Rosenberg,
F. Kok, M. R. Passos-Bueno.
1304
W Genetic basis of math genetic difficult .
M. R.
S. Carvalho, M.de Miranda, G. Pena, A. Julio-Costa, P.
Pinheiro-Chagas, L. Salvador, M. Andreata, V. G. Haase.
1305
T Whole transcriptome analysis of fetal and adult
Ts1Cje brains provides new perspectives for prenatal
and postnatal treatment of neurocognition in Down
syndrome.
F. Guedj, J. L. A. Pennings, L. C. Graham, E. L.
Newman, K. A. Miczek, D. W. Bianchi.
1306
F Monoamine oxidase deficiency: The clinica
relevance of personal genomics in a new developmental
brain dysfunction disorder.
D. Moreno-De-Luca, E. R.
Riggs, D. H. Ledbetter, C. L. Martin, J. F. Cubells.