Page 108 - ASHG 2013 Program Guide

INVITED AND PLATFORM SESSIONS  
 95
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INVITED AND PLATFORM SESSIONS
Thursday, October 24
8:00
AM
–10:15
AM
Concurrent Platform (abstract-driven)
Session B (19-27)
(
SESSION 26, continued)
157
/9:30
MAP4
defect underlines centrosomal
organization as a central mechanism in growth
regulation.
C. T. Thiel, D. Zahnleiter, N. Hauer,
K. Kessler, Y. Sugano, S. Neuhaus, A. B. Ekici, H.
Blessing, H. Sticht, H.-G. Doerr, A. Reis.
158
/9:45
Best understanding of structural and
functional impact of
FGFR3
mutations at the same
position (K650N, K650M, K650E) leading to both
mild and lethal dwarfism.
D. Komla Ebri, C. Benoist-
Lasselin, N. Kaci, P. Busca, G. Prestat, A. Munnich,
F. Barbault, L. Legeai-Mallet.
159
/10:00
X-linked osteoporosis and fractures:
An unexpected genetic cause.
F. S. van Dijk, M. C.
Zillikens, D. Micha, M. Riessland, C. L. M. Marcelis,
C. E. de Die-Smulders, J. Milbradt, A. A. M. Franken,
G. J. Harsevoort, K. D. Lichtenbelt, J. E. Pruijs, M. E.
Rubio-Gozalbo, R. Zwertbroek, M. Hammerschmidt,
R. Bijman, C. M. Semeins, A. D. Bakker, V. Everts,
J. Klein-Nulend, N. Campos-Obando, A. Hofman, A.
J. M. H. Verkerk, A. G. Uitterlinden, A. Maugeri, E. A.
Sistermans, Q. Waisfisz, H. Meijers-Heijboer, B. Wirth,
M. E. H. Simon, G. Pals.
Thursday, October 24
8:00
AM
–10:15
AM
Concurrent Platform (abstract-driven)
Session B (19-27)
SESSION 27 – Causes and Consequences of
Chromosomal Variations
Grand Ballroom CDE, Concourse Level, Westin Boston
Waterfront Hotel
Moderators
:
Beverly Emanuel, Univ. of Pennsylvania;
Seema Lalani, Baylor Col. of Med.
160
/8:00
Identification of rare genetic variants in
high-risk ASD families and their role in a large ASD
case/control population.
C. Hensel, N. Matsunami,
D. Hadley, G. B. Christensen, C. Kim, E. Frackelton, K.
Thomas, R. Pellegrino da Silva, J. Stevens, L. Baird,
B. Otterud, K. Ho, T. Varvil, T. Leppert, C. Lambert, M.
Leppert, H. Hakonarson.
161
/8:15
Discovery of cryptic chromosomal
abnormalities in clinically-referred youth with
neuropsychiatric disorders.
V. Pillalamarri, A. Doyle,
H. Brand, M. R. Stone, I. Blumenthal, C. O’dushlaine,
E. Braaten, J. Rosenfeld, S. McCarroll, J. Smoller, M.
E. Talkowski.
162
/8:30
Mechanism, prevalence, and more severe
neuropathy phenotype of the Charcot-Marie-Tooth,
type 1A triplication.
V. Gelowani, P. Liu, F. Zhang, V.
Drory, S. B. Shachar, E. Roney, W. B. Burnette, J. Li,
A. Orr-Urtreger, J. R. Lupski.
163
/8:45
Whole genome sequencing of two
individuals with excessive numbers of de novo
CNVs.
P. Liu, K. Walter, A. Wuster, T. Gambin, V.
Gelowani, K. Writzl, S. Lindsay, C. Carvalho, M.
Withers, C. Gonzaga, J. Wiszniewska, A. Patel, B.
Rautenstrauss, R. Gibbs, M. Hurles, J. Lupski.
164
/9:00
Utilization of next-generation sequencing
to detect and assign pathogenicity to balanced
rearrangements identified by conventional
cytogenetics.
U. Aypar, K. Pearce, E. Thorland, J.
Evans, V. Sarangi, C. Wang, Y. Asmann, N. Hoppman.
165
/9:15
Sequencing of unbalanced translocation
junctions reveals mutational mechanisms and gene
fusions.
B. Weckselblatt, M. K. Rudd.
166
/9:30
Identification of a deletion in the
LRP1b
gene associated with megalencephaly in the
sudden infant death syndrome.
D. S. Paterson,
H. C. Kinney, K. Schmitz Abe, F. Rahimov, F. L.
Trachtenberg, E. A. Haas, H. F. Krous, K. Markianos.
167
/9:45
A comprehensive microarray prenatal
study: Efficacy for both copy number and copy
neutral changes.
S. Schwartz, R. Pasion, H. Cabral,
R. Burnside, I. Gadi, E. Keitges, L. Kline, V. Jaswaney,
K. Phillips, H. Risheg, B. Rush, J. Shafer, H. Taylor, J.
Tepperberg, P. Papenhasuen.
168
/10:00
Non-random, locus-specific differences
in DNA accessibility are present in homologous
metaphase chromosomes.
W. A. Khan, P. K. Rogan,
J. H. M. Knoll.