Page 111 - ASHG 2013 Program Guide

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INVITED AND PLATFORM SESSIONS
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Thursday, October 24
2:00
PM
–4:15
PM
Concurrent Platform (abstract-driven)
Session C (28-36)
SESSION 32 – Genetic Testing for Neurodevelopmental
Disease: Genotype: Phenotype Challenges
Room 205, Level 2, Convention Center
Moderators
:
Miriam H. Meisler, Univ. of Michigan;
David R. Adams, NHGRI/NIH
205
/2:00
Clinical experience implementing
chromosomal microarray analysis in a
clinical psychiatric practice for adults with
autism spectrum disorders and related
neurodevelopmental disorders.
K. B. Teed, A.
Vahabzadeh, J. C. Cubells.
206
/2:15
New insights into the spectrum of
pathogenic variation in epilepsy gained from
molecular diagnostic testing of 1600 individuals.
S.
Aradhya, E. Butler, D. McKnight, A. Shanmugham, C.
Downtain, A. Entezam, G. Richard.
207
/2:30
Pathogenic rare copy number variants
in community-based schizophrenia suggest a
potential role for clinical microarrays.
A. S. Bassett,
G. A. Costain, A. Lionel, D. Merico, P. J. Forsythe,
K. Russell, C. Lowther, T. Yuen, J. Husted, D. J.
Stavropoulos, M. Speevak, E. W. C. Chow, C. R.
Marshall, S. W. Scherer.
208
/2:45
Genetic assessment of congenital brain
malformations.
U. Hehr, T. Rödl, S. M. Herbst, S.
Schirmer, T. Geis, B. Kasper, G. Schuierer, J. Winkler,
G. Uyanik.
209
/3:00
Investigation of
CASK
gene aberrations
in 38 patients with severe intellectual disability,
microcephaly and disproportionate pontine and
cerebellar hypoplasia.
S. Hayashi, O. Nobuhiko, J.
Takanashi, J. Inazawa.
210
/3:15
A homozygous
PDE6D
mutation in
Joubert syndrome impairs targeting of farnesylated
INPP5E protein to the primary cilium.
S. Thomas,
K. J. Wright, S. Le Corre, A. Micalizzi, M. Romani,
A. Abhyankar, J. Saada, I. Perrault, J. Amiel, J.
Litzler, E. Filhol, N. Elkhartoufi, M. Kwong, J. L.
Casanova, N. Boddaert, W. Baehr, S. Lyonnet, A.
Munnich, L. Burglen, N. Chassaing, F. Encha-Ravazi,
M. Vekemans, J. G. Gleeson, E. M. Valente, P. K.
Jackson, I. A. Drummond, S. Saunier, T. Attié-Bitach.
211
/3:30
Assessment of incidental findings in whole
exome sequences from the Baylor-Hopkins Center
for Mendelian Genomics.
J. Jurgens, N. Sobreira, H.
Ling, E. Pugh, E. Cirulli, F. Schiettecatte, K. Doheny, A.
Hamosh, D. Valle.
212
/3:45
Deep sequencing in extended pedigrees
reveals a major rare non-synonymous variant
influencing the de novo ceramide synthesis
pathway.
J. E. Curran, P. J. Meikle, J. M. Weir, J.
B. Jowett, T. M. Teslovich, G. Jun, S. Kumar, M.
Almeida, J. M. Peralta, C. Fuchsberger, A. R. Wood,
A. Manning, T. M. Frayling, P. Gingolani, R. Sladek, D.
M. Lehman, G. Abecasis, M. C. Mahaney, T. D. Dyer,
L. Almasy, R. Duggirala, J. Blangero, T2D-GENES
Consortium.
213
/4:00
From embryonic lethal to no phenotype:
What autozygome can teach us about loss of
function in the human genome.
F. S. Alkuraya.