Page 128 - ASHG 2013 Program Guide

INVITED AND PLATFORM SESSIONS  
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INVITED AND PLATFORM SESSIONS
Friday, October 25
2:00
PM
–4:15
PM
Concurrent Platform (abstract-driven)
Session E (54-62)
SESSION 57 – Autism and Neurodevelopmental
Disorders
Room 210, Level 2, Convention Center
Moderators
:
Santhosh Girirajan, Pennsylvania State
Univ.; Dimitrios Avramopoulos, Johns Hopkins Univ.
358
/2:00
Utility of a strategic next-generation
sequencing approach to genomic diagnosis of
patients with neurodevelopmental disorders.
S.
Soden, C. Saunders, E. Farrow, N. Miller, L. Smith,
D. Dinwiddie, A. Atherton, J. LePichon, B. Heese,
A. Abdelmoity, N. Safina, A. Modrcin, L. Willig, S.
Kingsmore.
359
/2:15
De novo mutations in autism spectrum
disorders revealed by whole genome sequencing.
Y. H. Jiang, R. Yuen, X. Jin, M. Wang, N. Chen, X. Wu,
J. Ju, J. Mei, Y. Shi, L. Zwaigenbaum, M. T. Carter, C.
Chrysler, L. Drmic, L. Lau, D. Mercio, A. Thompson,
M. Uddin, B. Thiruvahindrapuram, E. Anagnostou, S.
Walker, R. Ring, J. Wang, C. Lajonchere, J. Wang, A.
Shihi, P. Szatmari, H. Yang, G. Dawson, Y. Li, S. W.
Scherer.
360
/2:30
Recurrently mutated genes contribute to
the risk for developing sporadic autism spectrum
disorder.
B. J. O’Roak, E. A. Boyle, K. T. Witherspoon,
B. Martin, C. Lee, L. Vives, E. Karakoc, J. Hiatt, D. A.
Nickerson, R. Bernier, J. Shendure, E. E. Eichler.
361
/2:45
Identification of biological pathways
associated with phenotypically-defined subgroups
of autism spectrum disorders.
O. J. Veatch, B. L.
Yaspan, M. A. Pericak-Vance, J. L. Haines.
362
/3:00
De novo mutation in the dopamine
transporter gene associates dopamine dysfunction
with autism spectrum disorder.
N. G. Campbell, P.
J. Hamilton, S. Sharma, K. Erreger, F. H. Herborg, C.
Saunders, A. N. Belovich, E. H. Cook, U. Gether, H. S.
Mchaourab, H. J. Matthies, A. Galli, J. S. Sutcliffe.
363
/3:15
Analysis of synaptic function during
neurogenesis and maturation in homogeneous
populations of autism-affected GABAergic and
glutamatergic neurons.
B. A. DeRosa, K. C. Belle, J.
M. Van Baaren, J. M. Lee, M. L. Cuccaro, J. M. Vance,
M. A. Pericak-Vance, D. M. Dykxhoorn.
364
/3:30
Disruption of the
ASTN2
/
TRIM32
locus at chr9q33.1 in gender modulated risk for
autism, ADHD and other neurodevelopmental
phenotypes.
K. Tammimies, A. C. Lionel, A. K. Vaags,
J. A. Rosenfeld, J. W. Ahn, A. Noor, C. K. Runke, V.
Pillalamarri, M. T. Carter, C. Fagerberg, B. R. Lowry,
M. J. Gazzellone, R. K. C. Yuen, S. Walker, B. A.
Fernandez, D. Tolson, D. S. Cobb, P. A. Arnold, P.
Szatmari, R. Schachar, C. R. Marshall, C. Brasch-
Andersen, M. Speevak, M. Fichera, C. M. Ogilvie, D. J.
Stavropoulos, Y. Shen, J. C. Hodge, M. E. Talkowski,
S. W. Scherer.
365
/3:45
TBC1D24
,
responsible for early-onset
epilepsies associated with intellectual disabilities,
plays a role in the formation and maturation of
cerebral cortex.
A. Falace, E. Buhler, M. Fadda, F.
Watrin, P. Lippiello, E. Pallesi-Pocachard, P. Baldelli,
F. Benfenati, F. Zara, A. Represa, A. Fassio, C.
Cardoso.
366
/4:00
Transcriptional consequences of 16p11.2
microdeletion/microduplication syndrome
in human lymphoblasts and mouse cortex.
I.
Blumenthal, A. Ragavendran, S. Erdin, L. Klei, J.
Guide, M. Stone, C. Ernst, J. Levin, V. Wheeler, K.
Roeder, B. Devlin, J. F. Gusella, M. E. Talkowski.