Page 115 - ASHG 2012 Annual Meeting Program Guide

104
INVITED AND PLATFORM SESSIONS
Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.
Friday, November 9
8:00
AM
–10:15
AM
Concurrent Platform (abstract-driven)
Session D (47-55)
SESSION 52 – Clinical Genetics: Complex Mechanisms
and Exome-Discovery
Room 124, Lower Level North, Moscone Center
Moderators
:
Michael Gambello, Emory Univ.; Antonie
D. Kline, Harvey Inst. for Human Genet., Baltimore
295
/8:00
Systematic identification of causal
mutations in Mendelian disorders using exome
sequence data.
M. Lek, N. F. Clarke, L. B. Waddell,
B. Thomas, M. A. DePristo, M. J. Daly, K. N. North,
D. G. MacArthur.
296
/8:15
Exome sequencing of a large cohort of
patients with congenital digestive system
disorders.
M. Yourshaw, S. F. Nelson, M. G. Martín.
297
/8:30
Novel defect in kinetochore assembly
causes short stature and microcephaly of postnatal
onset.
C. Y. Hung, J. E. Dallman, O. Rittinger,
J. W. Bauer, M. Tekin, O. A. Bodamer.
298
/8:45
Mutations in
PIGO
,
a member of the GPI
anchor synthesis pathway, cause
hyperphosphatasia with mental retardation
syndrome.
P. M. Krawitz, Y. Murakami, J. Hecht, U.
Krüger, S. E. Holder, G. R. Mortier, B. Chiaie, E. Baere,
M. D. Thompson, T. Roscioli, S. Kielbasa, T. Kinoshita,
S. Mundlos, P. N. Robinson, D. Horn.
299
/9:00
The 600 kb deletion syndrome at 16p11.2
leads to energy imbalance and neuropsychiatric
disorders.
S. Jacquemont, F. Zufferey, E. H. Sherr, N.
D. Beckmann, E. Hanson, A. Maillard, L. Hippolyte, A.
Mace, C. Ferrari, Z. Kutalik, J. Andrieux, R. Bernier, S.
Bouquillon, B. Delobel, W. Andrew-Faucett, R. P. Goin-
Kochel, L. Harewood, S. Lebon, D. H. Ledbetter, C.
Lese-Martin, K. Mannick, D. Martinet, M. B. Ramocki,
S. J. Spence, K. Steinmann, J. Tjernagel, J. E. Spiro,
A. Reymond, W. Chung, J. S. Beckmann on behalf
of Simons VIP Consortium, and 16p11.2 European
Consortium.
300
/9:15
Ras/MAPK dysregulation caused by
MEK2
haploinsufficiency: A novel mechanism for a
RASopathy phenotype.
M. J. M. Nowaczyk, B.
Thompson, S. Zeesman, U. Moog, P. A. Sanchez-Lara,
R. Falk, P. Magoulas, L. Brueton, S. M. Ahmudavalli,
J. H. Fong, D. Batista, K. Rauen.
301
/9:30
Analysis of ESP5400 exomes for results of
clinical utility in genes for conditions tested as part
of newborn screening programs and age-related
macular degeneration.
H. K. Tabor, S. M. Jamal,
J. H. Yu, A. S. Gordon, W. S. Post, A. D. Johnson,
T. A. Graubert, D. A. Nickerson, P. L. Auer, M. J.
Bamshad on behalf of NHLBI Personal Genomics
Project Team and NHLBI Exome Sequencing Project.
302
/9:45
High congenital malformation rates in a
Chernobyl ionizing radiation impacted population
isolate in Ukraine.
W. Wertelecki, L. Yevtushok,
N. Zymak-Zakutnia, S. Lachenko.
303
/10:00
Somatic mosaicism is responsible for
congenital melanocytic naevus syndrome, and
underpins the associated risk of melanoma.
V. A. Kinsler, A. C. Thomas, N. W. Bulstrode,
S. Abu-Amero, K. McKenzie, E. Chanudet, P. Stanier,
E. Healy, N. J. Sebire, G. E. Moore.