Page 89 - ASHG 2012 Annual Meeting Program Guide

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INVITED AND PLATFORM SESSIONS
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SESSION 17 – Chromosomes and Disease
Room 132, Lower Level North, Moscone Center
Moderators
:
Christa Lese Martin, Emory Univ.; Blake
Ballif, Signature Genomics, Spokane, WA
61
/10:30
Characterization of de novo copy-number
variations in two subjects with a constitutional
CNV mutator” phenotype.
P. Liu, K. Walter, K. Writzl,
V. Gelowani, S. Lindsay, C. M. B. Carvalho, M.
Withers, J. Wiszniewska, A. Patel, B. Rautenstrauss,
M. Hurles, J. R. Lupski.
62
/10:45
Associations between gene expression
and phenotypes in 16p11.2 rearrangements.
E. Migliavacca, K. Mannik, F. Zufferey, N. D. Beckmann,
L. Harewood, A. Mace, Z. Kutalik, L. Hippolyte, A.
Maillard, V. Siffredi, R. M. Witwicki, G. Didelot, S.
Jacquemont, S. Bergmann, J. S. Beckmann, 16p11.2
European Consortium Collaborators.
63
/11:00
De novo triplication can arise from a
duplication of the 17p12 region and confers a
severe Charcot-Marie-Tooth, type 1A phenotype.
V. Gelowani, P. Liu, F. Zhang, S. B. Shachar, S. D.
Batish, E. Roney, V. Drory, A. Orr-Urtreger, J. R. Lupski.
64
/11:15
A long, non-coding RNA from the Prader-
Willi critical region forms a subnuclear cloud and
recruits transcriptional activating complexes to the
SNORD 116
locus in postnatal neurons.
W . T.
Powell, R. Coulson, F. Crary, S. Wong, D. H. Yasui,
J. M. LaSalle.
65
/11:30
Molecular analysis of patients whose
clinical features overlap the 22q11.2 deletion
syndrome.
S. Saitta, T. Busse, D. McDonald-McGinn,
E. Zackai, S. Woyciechowski, J. Garbarini, E.
Goldmuntz, C. Van Ravenswaaij, L. Hoefsloot, B.
Emanuel, D. Driscoll.
66
/11:45
Mouse model implicates
GNB3
copy
number in a novel childhood obesity syndrome.
I. S. Goldlust, K. E. Hermetz, L. M. Catalano, R. A.
Cozad, R. T. Barfield, K. N. Conneely, J. G. Mulle, S.
Dharamrup, M. Hegde, K. Kim, B. Angle, A. Colley, A.
E. Webb, E. C. Thorland, J. Ellison, J. Rosenfeld, B. C.
Ballif, L. G. Shaffer, L. A. Demmer, Unique Rare
Chromosome Support, M. K. Rudd.
67
/12:00
Modeling neurogenesis impairment in
Down syndrome using induced pluripotent stem
cells from monozygotic twins discordant for
trisomy 21.
Y. Hibaoui, I. Grad, S. R. Sailani, A.
Letourneau, S. Dahoun, S. Gimelli, M. F. Pelte, F.
Béna, S. E. Antonarakis, A. Feki.
68
/12:15
Discovery and interpretation of balanced
chromosomal aberrations in neurodevelopmental
abnormalities and prenatal diagnostics.
M. E.
Talkowski, V. Pillalamarri, I. Blumenthal, C. Hanscom,
Z. Ordulu, J. Rosenfeld, L. G. Shaffer, J. F. Gusella, C.
C. Morton.
69
/12:30
Predisposition of acrocentric short arm
fusions due to nuclear location, nucleolar
disorganization, and telomere-induced DNA
damage.
K. M. Stimpson, L. L. Sullivan, S. Chen, B.
A. Sullivan.
Wednesday, November 7
10:30
AM
–12:45
PM
Concurrent Platform (abstract-driven)
Session A (11-19)