Page 217 - ASHG 2013 Program Guide

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POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
2237
F
TGFBR1
mutations in a British cohort of thoracic
aortic aneurysm and dissection patients.
J. A. Aragon-
Martin, A. M. Mohamed, A. Wan, A. Saggar, M. Jahangiri,
A. H. Child.
2238
W RNAseq analysis of congenital heart defects.
D. M. McKean, D. S. Herman, A. G. Bick, D. C.
Christodoulou, S. R. DePalma, J. M. Gorham, J. Homsy,
J. D. Jiang, J. D. Overton, H. Wakimoto, S. Zaidi, R. E.
Breitbart, W. K. Chung, R. P. Kim, O. Toka, R. P. Lifton, C.
E. Seidman, J. G. Seidman, Pediatric Cardiac Genomic
Consortium.
2239
T Novel rare coding variants underlie blood lipid
levels in the population: An exome array association
study in 55,000 whites and blacks.
G. M. Peloso, on
behalf of CHARGE Lipids Working Group.
2240
F Serum 25 (OH) D deficienc , cardiovascular
disease and APOE genotypes: Increased 25 (OH)
D status in APOE
e
4
carriers does not protect from
cardio-metabolic risk.
D. Sanghera, H. Finley, P. Natt,
A. Subramanian, P. Blackett.
2241
W African ancestry is associated with
hypertensive cardiomyopathy in Brazilian patients
with heart failure.
C. Fridman, M. Cardena, A. Ribeiro-
dos-Santos, S. Santos, A. Mansur, A. Pereira.
2242
T Genetic evaluation in cardiac
neurodevelopmental clinic: Diagnosis and health care
management.
P. C. Goldenberg, A. Parrott, B. J. Adler,
J. Anixt, K. Mason, B. S. Marino.
2243
F Incidence of aortic root dilatation in patients
with 22q11 deletion: The 3-year experience of a VCF
specialty clinic.
C. B. Hills, S. L. Dugan, M. E. Pierpont,
J. D. Sidman.
2244
W Identical adolescent twins with progressive
thoracic aortic aneurysm, recurrent dissection
and
ACTA2
mutations.
R. B. Hinton, A. Shikany,
S. M. Ware.
2245
T Erythrocyte sedimentation rate in ischemic
stroke and its relation with stroke risk factors.
A. Kaur,
A. Uppal, K. Kaur.
2246
F Alpha cardiac actin mutation co-segregates
with hypertrophic and dilated cardiomyopathy as
well as being associated with conduction disease.
J. McGaughran, L. Hunt, M. Christiansen, J. Atherton.
2247
W Cumulative risks for thoracic aortic and
other vascular diseases associated with
ACTA2
mutations.
E. S. Regalado, R. E. Lasky, D. Guo, T. A.
Bensend, G. Arno, A. Child, T. Morisaki, D. Liang, D.
M. Milewicz.
2248
T Immunohistochemical study of lysosomal
cathepsin A deficient mouse model show
accumulation of vasoactive peptides in brain.
V. Seyrantepe, S. C. Ozturk, Z. Timur, S. Akyildiz,
O. Ozdemir.
2226
W Assessment of the enrichment for rare coding
variants in 16 related cases of fib omuscular dysplasia.
N. Bouatia-Naji, R. Kiando, P.-F. Plouin, X. Jeunemaitre.
2227
T Resequencing of renin-angiotensin-aldosterone-
system genes identifies ra e variants associated with
blood pressure salt-sensitivity: The GenSalt study.
T. N.
Kelly, J. E. Hixson, L. C. Shimmin, Q. Zhao, D. Gu, J. He.
2228
F Whole exome sequencing in familial calcific
aortic valve stenosis.
S. Le Scouarnec, C. Dina, F.
Simonet, C. Scott, H. Le Marec, V. Probst, M. Hurles, N.
Carter, T. Le Tourneau, J. J. Schott.
2229
W Identification and characterisation of a novel
gene for cardiomyopathy.
D. Phelan, G. Wilson, K. Pope,
G. Gillies, J. Sim, M. Bahlo, P. Hickey, C. Bromhead, P.
James, D. du Sart, M. Delatyki, R. Leventer, D. Amor, P.
Lockhart.
2230
T Identification of a single nucleotide
polymorphism variant in
TYRO3
associated with
coronary artery disease risk in the ClinSeq® study.
H.
Sung, B. Suktitipat, K. Lewis, D. Ng, S. G. Gonsalves, J. C.
Mullikin, L. G. Biesecker, A. F. Wilson, NISC Comparative
Sequencing Program.
2231
F Rare variants underlying a common, complex
disease: Exome sequencing in early-onset myocardial
infarction.
H.-H. Won, N. Stitziel, R. Do, NHLBI’s Exome
Sequencing Project and Myocardial Infarction Genetics
Exome Sequencing Consortium.
2232
W Rare and common exome chip variants are
associated with fasting glucose and insulin levels:
The CHARGE-S Exome Chip and Sequencing Study.
J.
Wessel, B. Cornes, S. Wang, R. Jensen, P. An, L. Lange,
E. Lange, M. Nalls, J. Wilson, B. Cade, Y. Lu, R. Loos, V. J.
Gudnason, J. Pankow, S. Willems, C. van Duijn, L. Bielak,
X. Guo, L. Rasmussen-Torvik, M. Province, I. Borecki, J.
Dupuis, J. Rotter, D. Siscovick, M. Goodarzi, J. Meigs,
CHARGE Consortium.
2233
T Novel dilated cardiomyopathy mutations
identified by whole exome sequencing
N. Chami, R.
Tadros, M. Beaudoin, K. Sin Lo, L. Robb, F. Lemarbre, M.
Talajic, G. Lettre.
2234
F Whole exome sequencing of a large cohort of
patients with congenital heart disease in the Quebec
founder population.
C. Preuss, M. Capredon, C. Prive,
J.-C. Grenier, M. Samuels, P. Chetaille, P. Awadalla, G.
Andelfinger.
2235
W A comprehensive association study of
APOE-C1-C4-C2
gene cluster variation with plasma
lipoprotein traits in U.S. whites.
Z. H. Radwan, X. Wang,
F. Waqar, J. E. Hokanson, R. F. Hamman, M. M. Barmada,
F. Y. Demirci, M. I. Kamboh.
2236
T Whole genome sequencing in African American
families to identify genetic determinants of extreme
obesity.
L. Yanek, M. Taub, I. Ruczinski, L. Huang, D.
Vaidya, L. Becker, D. Becker, R. Mathias, The GeneSTAR
Research Program.