Page 216 - ASHG 2013 Program Guide

POSTER SESSIONS
  203
POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
2214
W Copy number variants in patients with
abdominal aortic aneurysms.
D. Majoor-Krakauer,
K. M. van de Luijtgaarden, H. J. M. Verhagen, G. C. M.
Huijbregts, L. Koster, A. M. Bertolli Avella, H. B. Beverloo,
L. J. C. M. van Zutven.
2215
T Whole genome sequencing of families with
early-onset myocardial infarction.
A. Mehta, N. Schnetz-
Boutaud2, D. J. Van Booven, L. Wang, Z. Liu, N. Vasudeva,
M. A. Pericak-Vance1, J. L. Haines, G. W. Beecham.
2216
F Exome sequencing identifies a novel candidate
gene,
NRG1
,
for serum cholesterol levels in Mexicans.
E. Nikkola, M. Alvarez, M. V. P. Linga Reddy, A. Ko, D.
Weissglas-Volkov, C. Gutierrez-Cirlos, L. Riba, M. L.
Ordoñez Sánchez, Y. Segura Kato, T. Tusie-Luna, C.
Aguilar-Salinas, P. Pajukanta.
2217
W Clinical presentation and functional
characterization of a c.532
1
1
G
.
A splice site mutation
in
CASQ2
in a patient with catecholaminergic
polymorphic ventricular tachycardia.
K. Patel, M. Delio,
T. V. McDonald, C. Montagna, B. Morrow.
2218
T Survival is determined by mutation type and
molecular mechanism in Ehlers-Danlos syndrome type
IV.
M. G. Pepin, U. Schwarze, D. Leistritz, M. Liu, P. H. Byers.
2219
F Genomic analysis of long QT syndrome in
Indian cohort.
S. F. Qureshi, C. Narasimhan, A. Ali, A.
Venkateshwari, K. Thangaraj, P. Nallari.
2220
W Novel sarcomeric gene variations in hypertrophic
cardiomyopathy patients of Indian cohort.
A. Rangaraju,
M. L. Satyanarayana, C. Narasimhan, P. Nallari.
2221
T A family-based whole genome sequencing study
to identify genetic determinants of platelet hyper-
aggregation following aspirin in African Americans at
high risk for coronary artery disease.
M. A. Taub, L. R.
Yanek, I. Ruczinski, L. Huang, D. M. Becker, L. C. Becker,
R. A. Mathias, GeneSTAR Research Program.
2222
F The molecular dissection of familial dilated
cardiomyopathy.
J. M. Taylor, S. L. Reid, J. Hayesmoore,
J. Woodley, K. McGuire, K. Thomson, E. Blair, H. Watkins,
A. Seller.
2223
W Novel homozygous missense mutations in
the
SLC2A10
gene in a Turkish pediatric patient with
arterial tortuosity syndrome.
S. G. Temel, O. Bostan, D.
Proost, L. Van Laer, E. Cil, B. Loeys.
2224
T Mutation detection in aortopathy and other
vasculopathies complicating hereditary disorders of
connective tissue by next-generation sequencing.
J. Vandrovcova, R. A. Weerakkody, J. Biggs, P. J.
Norsworthy, C. Neuwirth, L. Game, A. Vandersteen, F. M.
Pope, N. J. Cheshire, T. J. Aitman.
2225
F New frame-shift deletion in
EMD
gene causes
Emery-Dreifuss muscular dystrophy with severe
cardiomyopathy required heart transplantation.
E.
Zaklyazminskaya, O. Blagova, M. Yakovleva, V. Rumyantseva,
A. Nedostup, D. Shumakov, S. Dzemeshkevich.
2202
W Large-scale transcriptome profiling in
peripheral blood mononuclear cells of early-onset
myocardial infarction individuals and matched
controls.
C. Müller, A. Schillert, M. O. Scheinhardt,
S. Szymczak, F. Ojeda, C. R. Sinning, R. B. Schnabel,
S. Wilde, P. S. Wild, K. J. Lackner, T. Munzel, A. Ziegler,
S. Blankenberg, T. Zeller.
2203
T Investigating the role of
HoxA3
during cardiac
development.
V. Sanghez, D. Rux, S. Chan, L. Borges,
N. Koyano, R. Perlingeiro, D. Garry, M. Kyba, M. Iacovino.
2204
F Joint association of 31 mitochondrial variants
with type 2 diabetes: The Strong Heart Family Study.
Y. Zhu, E. T. Lee, S. A. Cole, K. Haack, L. G. Best, B. V.
Howard, J. Zhao.
2205
W RNA sequencing of human adipose tissue
identifies allele-specific ex ession associated with
dyslipidemia.
M. Alvarez, R. M. Cantor, P. M. Reddy, Y.
Hasin, D. Weissglas-Volkov, E. Nikkola, J. Kuusisto, A. J.
Lusis, M. Laakso, P. Pajukanta.
2206
T Genes related to
CRKL
and mouse heart
development may act as genetic modifiers to
congenital heart disease in human 22q11.2 deletion
syndrome.
J. Chung, S. E. Racedo, T. Guo, D. M.
McDonald-McGinn, E. Zackai, R. J. Shprintzen, B. S.
Emanuel, B. Funke, B. E. Morrow.
2207
F Genetic influence of scavenger eceptor class B
type 1 (
SCARB1
)
on plasma lipid traits in non-Hispanic
White Americans.
V. Niemsiri, X. Wang, M. M. Barmada, J.
E. Hokanson, R. F. Hamman, F. Y. Demirci, M. I. Kamboh.
2208
W Study on the association between
APOH
variants and thrombophilia.
L. Tang, X. Lu, Q. Wang, J.
Yu, X. Jian, T. Guo, H. Wang, H. Liu, Y. Hu.
2209
T
APOE
p.Leu167del mutation in familial
hypercholesterolemia.
Z. Awan, H. Choi, N. Stitziel, I.
Ruel, R. Husa, M. H. Gagnon, R. H. Wang, N. Seidah, S.
Kathiresan, J. Genest.
2210
F Role of Titin gene variants in human dilated
cardiomyopathy.
R. L. Begay, S. L. Graw, G. Sinagra,
M. Merlo, D. Slavov, G. Barbati, A. Di Lenarda, X. Zhu, L.
Mestroni, M. Taylor.
2211
W Desmosomal and titin gene variants in
arrhythmogenic right ventricular cardiomyopathy:
Genotype-phenotype correlations.
F. Brun, C. Barnes, G.
Sinagra, D. Slavov, G. Barbati, X. Zhu, R. Begay, S. Graw,
B. Pinamonti, E. Salcedo, M. Taylor, L. Mestroni, Familial
Cardiomyopathy Registry.
2212
T Burden of rare variants in
PON
is associated
with ischemic stroke.
D. S. Kim, D. R. Crosslin, P. L. Auer,
A. A. Burt, A. S. Gordon, C. E. Furlong, J. F. Meschia, M.
Nalls, U. Peters, S. S. Rich, D. A. Nickerson, G. P. Jarvik,
NHLBI Exome Sequencing Project.
2213
F The spectrum and prevalence of genetic
background noise in patients with arrhythmogenic (right
ventricular) cardiomyopathy.
T. T. Koopmann, S. Walker,
G. Kaur, S. W. Scherer, C. R. Marshall, R. M. Hamilton.