Page 194 - ASHG 2012 Annual Meeting Program Guide

POSTER SESSIONS
183
POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
1788
W Underestimated intimate issues after bilateral
prophylactic mastectomy with breast reconstruction in
healthy
BRCA
mutation carriers.
A. Tibben, J. Gopie, C.
Seynaeve, M. Ter Kuile, M. Menke-Pluymers, R. Timman,
M. Mureau.
1789
W Risk of peripartum acute aortic dissection in
women with
ACTA2
mutations.
E. Regalado, D. Guo, D.
Milewicz.
1790
W Translational impact of VEGFA variants on the
prediction and follow-up of ocular complications in
pseudoxanthoma elasticum.
E. De Vilder, M. J. Hosen,
L. M. Martin, B. P. Leroy, J. M. Ebran, P. J. Coucke, A. De
Paepe, O. M. Vanakker.
1791
W Familial occurrence and associated symptoms
in a population of individuals with non-syndromic
craniosynostosis.
J. Greenwood, S. Boyadjiev, K. Osann,
P. Flodman, V. Kimonis.
1792
W Personalized risk prediction in a population-
based biobank: The Estonian experience.
K. Fischer, K.
Läll, L. Leitsalu-Moynihan, P. C. Ng, T. Haller, T. Esko, A.
Metspalu.
1793
W Acquired thrombophilias; The reproductive
geneticist’s dilemma.
T. Goldwaser, K. Bajaj, S. Klugman.
1794
W Family history and risk assessment in black
South African women with breast cancer.
T. Wainstein,
C. van Wyk, A. Krause.
1795
W Support for patients with Young-Simpson
syndrome, their families and other peoples concerned:
Study of patients and family group meetings.
Y. Yamanouchi, T. Nishikawa, K. Enomoto, N. Furuya,
S. Mizuno, T. Kondo, M. Adachi, K. Muroya, M. Masuno,
K. Kurosawa.
1796
W Duplications Xq28 are questionable for genetic
counseling.
C. Costa, A. Briand, C. Rothschild, E. Bieth,
J. Melki, C. Metay, M. Goossens.
Ethical, Legal, Social and Policy
Issues in Genetics
1797
W Surname leakage from personal genomes.
Y. Erlich, M. Gymrek, D. Golan, E. Halprein, A. L. McGuire.
1798
F Optional enrollment into access controlled
genomic databases: Decision making in hispanics
versus non-Hispanics.
S. Scollon, S. Gutierrez,
A. L. McGuire, S. Hicks, S. E. Plon.
1799
W Development of institutional genomic research
infrastructure in an academic pediatric hospital setting
to enable large-scale enrollment, education and
discovery.
C. M. Clinton, S. K. Savage, C. A. Brownstein,
I. A. Holm, D. M. Margulies, W. A. Wolf.
1800
F A proposal: A family driven social network
model for clinical data sharing and research in
conditions is often not predictive.
C. L. Goldsmith, D. A.
Dyment, K. M. Boycott.
1776
W Large scale population analysis challenges
the current criteria for the molecular diagnosis of
fascioscapulohumeral muscular dystrophy.
I. Scionti,
F. Greco, G. Ricci, M. Govi, P. Arashiro, L. Vercelli, T.
Mongini, A. Berardinelli, C. Angelini, G. Antonini, M. Cao,
A. Di Muzio, M. Moggio, L. Morandi, E. Ricci, C. Rodolico,
L. Ruggiero, L. Santoro, G. Siciliano, G. Tomelleri, C. P.
Trevisan, G. Galluzzi, W. Wright, M. Zatz, R. Tupler.
1777
W Identification of a common pan-ethnic
haplotype enriched on SMN1 duplication alleles
improves the detection of silent (2
1
0)
SMA carriers and
significantly modifies residual risk estimates.
M. Luo,
L. Liu, I. Peter, J. Zhu, S. A. Scott, G. Zhao, C. Eversley, R.
Kornreich, R. J. Desnick, L. Edelmann.
1778
W Multiplexing test for molecular diagnosis of
skeletal dysplasia (by CGC mutation panel).
P. Tavares,
A. Lopes, L. Lameiras, L. Dias, J. Sá, A. Palmeiro, P.
Rendeiro.
1779
W A combination of panel and exome sequencing
to identify novel human retinitis pigmentosa genes.
F.
Wang, H. Wang, J. Zaneveld, K. Zhang, R. Koenekoop,
G. Silvestri, N. Solanki, J. Cheng, I. Lopez, H. Ren, D.
Simpson, R. Chen.
1780
W Evaluation of
BRCA1
mutations in patients with
family history of breast cancer.
S. Rummel, C. D. Shriver,
R. E. Ellsworth.
1781
W Measuring clinician satisfaction with disclosure
of genetic susceptibility test results: Findings from the
REVEAL Study.
S. L. Everhart, B. M. Wood, K. Valverde, L.
Medne, J. S. Roberts, C. A. Chen, K. D. Christensen, R. C.
Green, REVEAL Study Group.
1782
W Reactions to direct-to-consumer
BRCA
test
results.
U. Francke, C. Dijamco, A. K. Kiefer, N. Eriksson,
J. Y. Tung, J. L. Mountain.
1783
W Targeted gene capture of
BRCA1
using short,
explicitly non-gene-specific, peptide nucleic acid baits.
S. V. Tavtigian, K. Tao, R. Bell, J. Rosenthal, W. Kohlmann.
1784
W Predictive testing for idiopathic scoliosis: Are
orthopedic surgeons and pediatricians ready and
willing?
A. M. Laberge, A. Moreau.
1785
W
Myocilin
genetic screening in severe
glaucoma cases and cascade testing in the
Australian and New Zealand Registry of Advanced
Glaucoma.
E. Souzeau, K. P. Burdon, B. Usher-Ridge,
A. Dubowsky, J. E. Craig.
1786
W Parental awareness, attitudes, and experiences
of genetic testing in autism spectrum disorders.
A.
Rupchock, M. Cuccaro, M. Alessandri, J. M. Lee.
1787
W Genetic testing in autism: Parental attitudes
and expectations.
M. Cuccaro, K. Czape, J. M. Lee, A.
Rupchock, E. Bendik, M. Alessandri, S. Hahn.