Page 129 - ASHG 2013 Program Guide

116
INVITED AND PLATFORM SESSIONS
Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.
Friday, October 25
2:00
PM
–4:15
PM
Concurrent Platform (abstract-driven)
Session E (54-62)
SESSION 58 – Cardiovascular Genetics: Functional
Characterization and Clinical Applications
Room 205, Level 2, Convention Center
Moderators
:
Dan E. Arking, Johns Hopkins Univ. Sch.
of Med.; Myriam Fornage, Univ. of Texas Hlth Sci. Ctr.
at Houston
367
/2:00
A homozygous mutation in Smoothened, a
member of the Sonic hedgehog (SHH)-GLI pathway
is involved in human syndromic atrioventricular
septal defect.
W. S. Kerstjens-Frederikse, Y.
Sribudiani, M. E. Baardman, L. M. A. Van Unen, R.
Brouwer, M. van den Hout, C. Kockx, W. Van IJcken,
A. J. Van Essen, P. A. Van Der Zwaag, G. J. Du
Marchie Sarvaas, R. M. F. Berger, F. W. Verheijen, R.
M. W. Hofstra.
368
/2:15
Identification of
PRDM16
as a disease
gene for left ventricular non-compaction and the
efficient generation of a personalized disease
model in zebrafish.
A.-K. Arndt, S. Schaefer, R.
Siebert, S. A. Cook, H.-H. Kramer, S. Klaassen, C. A.
MacRae.
369
/2:30
Mutation and copy number variation of
FOXC1
causes cerebral small vessel disease.
C.
R. French, S. Seshadri, A. L. Destefano, M. Fornage,
D. J. Emery, M. Hofker, J. Fu, A. J. Waskiewicz, O. J.
Lehmann.
370
/2:45
Genetic association of common variants
with a rare cardiac disease, the Brugada syndrome,
in a multi-centric study.
C. Dina, J. Barc, Y.
Mizusawa, C. A. Remme, J. B. Gourraud, F. Simonet,
P. J. Schwartz, L. Crotti, P. Guicheney, A. Leenhardt,
C. Antzelevitch, E. Schulze-Bahr, E. R. Behr, J. Tfelt-
Hansen, S. Kaab, H. Watanabe, M. Horie, N. Makita,
W. Shimizu, P. Froguel, B. Balkau, M. Gessler, D.
Roden, V. M. Christoffels, H. Le Marec, A. A. Wilde, V.
Probst, J. J. Schott, R. Redon, C. R. Bezzina.
371
/3:00
Loss-of-function mutations in
CECR1
,
encoding adenosine deaminase 2, cause systemic
vasculopathy with fever and early onset strokes.
Q.
Zhou, A. Zavialov, M. Boehm, J. Chae, M. Hershfield,
R. Sood, S. Burgess, A. Zavialov, D. Chin, C. Toro,
R. Lee, M. Quezado, A. Ombrello, D. Stone, I.
Aksentijevich, D. Kastner.
372
/3:15
Genetic influence on LpPLA2 activity
at baseline as evaluated in the exome chip-
enriched GWAS study among
13600
patients with
chronic coronary artery disease in the STABILITY
(
STabilisation of Atherosclerotic plaque By
Initiation of darapLadIb TherapY) trial.
L. Warren,
L. Li, D. Fraser, J. Aponte, A. Yeo, R. Davies, C.
Macphee, L. Hegg, L. Tarka, C. Held, R. Stewart, L.
Wallentin, H. White, M. Nelson, D. Waterworth.
373
/3:30
Genome-wide association study identifies
common and rare genetic variants in caspase-
1-
related genes that influence IL-18 regulation
in patients with acute coronary syndrome.
A.
Johansson, N. Eriksson, E. Hagström, C. Varenhorst,
A. Åkerblom, M. Bertilsson, T. Axelsson, B. J. Barratt,
R. C. Becker, A. Himmelmann, S. James, H. A. Katus,
G. Steg, R. F. Storey, A. Syvänen, L. Wallentin, A.
Siegbahn.
374
/3:45
Prevalence and predictors of
pneumothorax in patients with connective tissue
disorders enrolled in the GenTAC (National
Registry of Genetically Triggered Thoracic Aortic
Aneurysms and Cardiovascular Conditions)
Registry.
J. P. Habashi, G. L. Oswald, K. W. Holmes,
E. M. Reynolds, S. LeMaire, W. Ravekes, N. B.
McDonnell, C. Maslen, R. V. Shohet, R. E. Pyeritz,
R. Devereux, D. M. Milewicz, H. C. Dietz, GenTAC
Registry Consortium.
375
/4:00
Surprising clinical lessons from targeted
next-generation sequencing of thoracic aortic
aneurysmal genes.
B. Loeys, D. Proost, G.
Vandeweyer, S. Salemink, M. Kempers, G. Oswald, H.
Dietz, G. Mortier, L. Van Laer.