Page 190 - ASHG 2012 Annual Meeting Program Guide

POSTER SESSIONS
179
POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
1690
T Association of 87 traits related to coronary
heart disease and rare sequence variants in the
ClinSeq™ Study.
H. Sung, B. Suktitipat, K. Lewis, D. Ng,
S. Gonsalves, J. K. Teer, N. F. Hansen, J. C. Mullikin, L. G.
Biesecker, A. F. Wilson, NISC Comparative Sequencing
Program.
1691
T Exome sequencing identifies a novel splice
site mutation in
LMNA
and multigenic heterozygosity
of potential modifiers in a multi-generation family
with sick sinus syndrome, dilated cardiomyopathy
and sudden cardiac death.
M. V. Zaragoza, E. Jensen,
F. Oh, C. K. Tran, V. Hoang, S. Hakim.
1692
T Whole-exome sequencing and quantitative
analysis of genetic variants associated with blood
pressure: The NHLBI Exome Sequencing Project.
S. L.
Pulit, ESP Blood Pressure Project Team, NHLBI Exome
Sequencing Project.
1693
T Identification of novel genes and their mutations
associated with hypertrophic cardiomyopathy.
X. Liu,
Q. Huang, X. Dai, W. Xie.
1694
T Linkage analysis and exome sequencing
to identify causal variants for familial combined
hyperlipidemia.
A. Mak, C. R. Pullinger, M. J. Malloy, P. L.
F. Tang, R. Deo, P. Y. Kwok.
1695
T Exome sequencing reveals a truncation
mutation in the novex-3 isoform of
TTN
that disrupts
cardiomyocyte ultrastructure and segregates with
familial dilated cardiomyopathy.
J. L. Theis, V. V.
Michels, S. Middha, S. Baheti, P. C. Abell Aleff, T. M.
Olson.
1696
T Challenges in interpreting secondary variants
from massively parallel sequencing, perspectives from
the ClinSeq™ study.
D. Ng, J. J. Johnston, K. L. Lewis,
S. G. Gonsalves, L. N. Singh, L. C. Peller, J. K. Teer, J. C.
Mullikin, L. G. Biesecker.
1697
T An intronic mutation affecting pre-mRNA
splicing in the
COL3A1
gene as novel mechanisms
causing vascular Ehlres-Danlos syndrome.
A.
Watanabe, B. T. Naing, M. Sasaki, K. Akutsu, S. Kosaihira,
A. Gemma, T. Shimada.
1698
T Impaired basement membrane function causes
dilated cardiomyopathy in Marfan syndrome.
J. R.
Cook, L. Carta, L. Benard, E. R. Chemaly, E. Chiu, T.
Hampton, N. Clayton, C. Nelson, B. Wentworth, R. J.
Hajjar, F. Ramirez.
1699
T Oxidative stress as a modifier of cardiovascular
disease in a mouse model of Williams Beuren
syndrome.
B. Kozel, L. Ye, R. Knutsen.
1700
T The National Registry of Genetically Triggered
Thoracic Aortic Aneurysms (GenTAC): Registry
progress and research successes.
C. Maslen, GenTAC
Consortium.
1701
T Association of
CRP
gene variation in Asian
Indian Takayasu’s arteritis patients.
K. Shah, D.
1678
T Whole-exome sequencing for identification
of novel genes and variants underlying the risk of
long-QT syndrome.
M. Chaix, P. Goyette, A. Alikashani,
F. Latour, L. Robb, B. Mondesert, L. Rivard, S. Foisy, M.
Ladouceur, R. M. Hamilton, M. Talajic, J. D. Rioux.
1679
T A rare genetic mutation (FBLN-4 mutation)
found in a patient presenting with diffuse severe
aortopathy.
K. Coleman, P. Fernhoff, S. Shankar, C.
Hebson, M. Clabby, B. Kogon, B. Loeys.
1680
T Rare variants in Notch pathway genes among
individuals with congenital heart defects.
K. McBride,
G. Zender, S. Fitzgerald-Butt, J. Stemming, A. Hooper.
1681
T
TTN
mutations from exome sequences of 17
DCM families: Clinical implications.
A. Morales, N.
Norton, D. Li, E. Rampersaud, E. Martin, S. Zuchner, S.
Guo, M. Gonzalez, R. Hershberger.
1682
T A novel Ser33045Ala variant of
TTN
gene in
a family with left ventricular non-compaction and
syncope: Is there a linked etiopathogenesis?
A.
Psychogios, A. Marsidi.
1683
T Molecular autopsy for sudden death using
whole genome sequencing.
M. J. Puckelwartz, L.
Dellefave-Castillo, D. Wolfgeher, V. Nelakuditi, M. T.
Campbell, J. R. Golbus, E. M. McNally.
1684
T High incidence of
GLA
variants in a non-
selected heart disease patient population suggests
that the Fabry trait is a common cardiovascular
genetic risk factor.
R. Schiffmann, S. Forni, C. Swift,
X. Wu, D. J. Lockhart, M. Chee, T. Kitaoka, E. Chudin,
S. Pond, N. H. McNeill, K. Sims, E. R. Benjamin, L.
Sweetman.
1685
T Exome sequencing identifies homozygous
truncation mutations in
MYOM2
in arrhythmogenic
ventricular dysplasia/cardiomyopathy.
J. Wang, C.
Silverstein, H. Lee, E. Mokhonova, A. Seki, S. P. Taylor, M.
Fishbein, M. Spencer, S. F. Nelson.
1686
T Replication of associations from large scale
re-sequencing studies.
D. Waterworth, L. Li, R. Scott,
C. Gillson, J. Aponte, L. Warren, M. Nelson, M. Ehm, N.
Wareham, S. Chissoe.
1687
T Rare copy number variants in congenital heart
disease affecting gene structure.
K. Dumas, Y. Bouhlal,
M. McKeon, J. T. C. Shieh.
1688
T Rare variants in the
APOA5
promoter are
associated with a paradoxical HDL-C decrease in
response to fenofibric acid therapy.
A. Brautbar, M.
Barbalic, F. Chen, J. Belmont, S. Virani, S. Scherer, R.
Hegele, C. Ballantyne.
1689
T
COL4A1
and
COL4A2
mutations cause
genetically modifiable hemorrhagic stroke.
M.
Jeanne, J. Jorgensen, C. Labelle-Dumais, Y. Weng, W. B.
Kauffman, M. de Leau, S. M. Greenberg, J. Rosand, J.
Favor, D. B. Gould.