Page 107 - ASHG 2013 Program Guide

94
INVITED AND PLATFORM SESSIONS
Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.
Thursday, October 24
8:00
AM
–10:15
AM
Concurrent Platform (abstract-driven)
Session B (19-27)
(
SESSION 25, continued)
148
/9:30
Replication of gene-gene interaction
models associated with cataracts in the eMERGE
Network.
M. A. Hall, S. S. Verma, E. R. Holzinger, R.
Berg, J. Connolly, D. C. Crawford, D. R. Crosslin, M.
de Andrade, K. F. Doheny, J. L. Haines, J. B. Harley,
G. P. Jarvik, T. Kitchner, H. Kuivaniemi, E. B. Larson,
G. Tromp, S. A. Pendergrass, C. A. McCarty, M. D.
Ritchie.
149
/9:45
Evidence from multiple genome-wide
association studies of a hub of gene-gene
interactions affecting human HDL cholesterol
levels.
L. Ma, C. Ballantyne, A. Brautbar, A. Keinan.
150
/10:00
Epistasis analysis for quantitative trait
with next-generation sequencing data.
F. Zhang, E.
Boerwinkle, M. Xiong.
Thursday, October 24
8:00
AM
–10:15
AM
Concurrent Platform (abstract-driven)
Session B (19-27)
SESSION 26 – Advances in the Genetics of Skeletal
and Morphologic Disorders
Grand Ballroom AB, Concourse Level, Westin Boston
Waterfront Hotel
Moderators
:
Charles Venditti, NHGRI/NIH; Jamie
Fitzgerald, Oregon Hlth. & Sci. Univ.
151
/8:00
Targeted capture and sequencing
identifies causative alleles in simplex and multiplex
consanguineous Palestinian families with orofacial
clefts.
H. Shahin, U. Sharaha, M. K. Lee, A. Watts,
M.-C. King, J. van Aalst, T. Walsh.
152
/8:15
Dominant mutations in
GRHL3
cause Van
der Woude syndrome and disrupt oral periderm
development.
M. Peyrard, E. J. Leslie, Y. A. Kousa, T.
L. Smith, M. Dunnwald, M. Magnusson, B. A. Lentz,
P. Unneberg, I. Fransson, H. K. Koillinen, J. Rautio, M.
Pegelow, A. Karsten, L. Basel-Vanagaite, W. Gordon,
B. Andersen, T. Svensson, J. C. Murray, R. A. Cornell,
J. Kere, BC. Schutte.
153
/8:30
A homeotic maxillary to mandibular
transformation in humans resulting from loss of
selective ligand affinity of the endothelin receptor
type A.
C. Gordon, M. Oufadem, Y. Kurihara, A.
Picard, S. Breton, S. Pierrot, M.-A. Delrue, M. Biosse-
Duplan, M. Guion-Almeida, P. Moura, D. Garib,
D. Weaver, A. Munnich, P. Corvol, H. Kurihara,
R. Zechi-Ceide, S. Lyonnet, J. Amiel.
154
/8:45
Putative gain of function mutations in
FAM111A
result in Kenny-Caffey syndrome and
osteocraniostenosis: Identification of an upstream
regulator of the PTH axis.
S. Unger, M. W. Gorna,
A. Le Bechec, S. Do Vale-Pereira, F. Bedeschi, S.
Geiberger, G. Grigelioniene, E. Horemuzova, F. Lalatta,
E. Lausch, C. Magnani, S. Nampoothiri, G. Nishimura,
D. Petrella, F. Rojas-Ringeling, A. Utsunomiya,
B. Zabel, S. Pradervand, K. Harshman,
B. Campos-Xavier, L. Bonafé, G. Superti-Furga,
B. Stevenson, A. Superti-Furga.
155
/9:00
Mutations in
PIEZO2
cause Gordon
syndrome, Marden-Walker syndrome and distal
arthrogryposis type 5.
M. J. McMillin, A. E. Beck,
J. X. Chong, K. M. Shively, K. J. Buckingham, H.
I. Gildersleeve, M. Splitt, A. S. Aylsworth, I. P. C.
Krapels, C. J. Curry, M. I. Aracena, J. T. Hecht, J. A.
Hurst, R. H. Scott, K. Devriendt, J. M. Graham, Jr., J.
D. Smith, H. K. Tabor, J. Shendure, D. A. Nickerson,
M. J. Bamshad, University of Washington Center for
Mendelian Genomics.
156
/9:15
Mutation in the SH2 domain of
PIK3R1
cause SHORT syndrome with partial lipodystrophy.
S. Johansson, K. K. Chudasama, J. Winnay, T. Claudi,
R. König, I. Haldorsen, B. Johansson, J. R. Woo, D.
Aarskog, J. V. Sagen, C. R. Kahn, A. Molven, P. R.
Njolstad.