Page 131 - ASHG 2013 Program Guide

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INVITED AND PLATFORM SESSIONS
Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.
Friday, October 25
2:00
PM
–4:15
PM
Concurrent Platform (abstract-driven)
Session E (54-62)
SESSION 61 – Genomics of Developmental Disorders
Grand Ballroom AB, Concourse Level, Westin Boston
Waterfront Hotel
Moderators
:
Karen Avraham, Tel Aviv Univ.; Margarit
Urbanek, Northwestern Univ., Chicago
394
/2:00
Targeted sequencing of GPI anchor
synthesis pathway genes identifies a new
causal gene of hyperphosphatasia with mental
retardation.
P. Krawitz, Y. Murakami, A. Riess, M.
Hietala, U. Krueger, N. Zhu, T. Kinoshita, S. Mundlos,
J. Hecht, P. Robinson, D. Horn.
395
/2:15
1000
trio exomes: Insights into severe
developmental disorders.
M. Van Kogelenberg, T.
Fitzgerald, W. Jones, J. C. Barret, M. Hurles, on behalf
of DDD Project.
396
/2:30
Atypical Rett Syndrome: Is it really
more common in females?
K. Cusmano-Ozog, P.
Tanpaiboon, L. Harris, J. Turner, L. Kehoe, T. Biagi, B.
Lanpher.
397
/2:45
Common molecular networks in Rett,
Angelman, Smith-Magenis, Potocki-Lupski,
Pitt-Hopkins, and chromosome 2q23.1 deletion
syndromes contribute to intellectual disability,
seizures, sleep, language, behavior and autism
spectrum disorder.
S. V. Mullegama, B. Burns, Z.
Shah, R. Tahir, W.-H. Tan, S. H. Elsea.
398
/3:00
MBD5
deletion disrupts circadian
gene expression and is associated with sleep
disturbance in the 2q23.1 deletion syndrome.
S. H.
Elsea, S. V. Mullegama, Z. Shah, R. Tahir, L. Pugliesi.
399
/3:15
Lysyl-tRNA synthetase (
KARS
)
mutations
cause autosomal recessive nonsyndromic hearing
impairment
DFNB89
.
R. Santos-Cortez, K. Lee,
Z. Azeem, P. J. Antonellis, L. M. Pollock, S. Khan,
Irfanullah, P. B. Andrade-Elizondo, I. Chiu, M. D.
Adams, S. Basit, J. D. Smith, D. A. Nickerson, B.
M. McDermott, Jr., W. Ahmad, S. M. Leal, Univ. of
Washington Ctr. for Mendelian Genomics.
400
/3:30
Multiple de novo variants resulting in
combined axial hypotonia with dyskinesia and
facial myokymia.
A. Torkamani, J. Friedman, C. S.
Bloss, S. Topol, E. J. Topol, Q. Chen, N. J. Schork, W.
H. Raskind, A. Torkamani.
401
/3:45
Dominant
b
-
catenin mutations cause
intellectual disability with recognizable syndromic
features.
T. Kleefstra, V. Tucci, M. H. Willemsen,
A. Hardy, I. Heise, S. Maggi, W. Wissink-Lindhout,
A. Vulto-van Silfhout, B. B. A. deVries, Z. Iqbal,
H. G. Brunner, W. N. Nillesen, H. G. Yntema, H.
Hilton, M. Simon, S. Tsaftaris, H. van Bokhoven, A.
Constestabile, T. Nieus, A. Raimondi, B. Greco, D.
Cantatore, L. Gasparini, L. Berdondini, A. Bifone, J.
Veltman, L. Peart-Vissers, A. Gozzi, S. Wells, P. M.
Nolan.
402
/4:00
Defective initiation of glycosaminoglycan
synthesis due to
B3GALT6
mutations causes
a pleiotropic Ehlers-Danlos syndrome-like
connective tissue disorder.
F. Malfait, A. Kariminejad,
T. Van Damme, C. Gauche, D. Syx, F. Merhi-Soussi, S.
Gulberti, S. Symoens, S. Vanhauwaert, A. Willaert, B.
Bozorgmehr, M. Kariminejad, I. Hausser, S. Fournel-
Gigleux, A. De Paepe.