Page 192 - ASHG 2012 Annual Meeting Program Guide

POSTER SESSIONS
181
POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
undergoing molecular testing for Ehlers Danlos
syndrome at The Hospital for Sick Children in Toronto,
Canada: Five year experience.
L. Dupuis, M. A.
Qoqandi, P. Kannu, L. Fishman, D. Chitayat, S. Bowdin,
R. Mendoza-Londono.
1739
W Detection of oipA using PCR method can help
to the diagnosis of
Helicobacter pylori
in the dyspeptic
patients.
L. Salimzadeh, N. Bagheri, F. Azadegan, G.
Rahimian, A. Taghikhani, M. Hashemzadeh, H. Shirzad.
1740
W Connecting family branches through recurrent
BRCA
mutations.
A. Toland, M. O’Connor, L. Senter.
1741
W Low prevalence of large genomic
rearrangements in
BRCA1/2
found in at-risk Southern
California population.
T. Hoffman, M. Alvarado.
1742
W Clinical whole exome sequencing for the
diagnosis of Mendelian disorders: Program design,
implementation, and first year reporting experience.
C. M. Eng, D. Muzny, J. Reid, M. Bainbridge, P. Pham, M.
R. Bekheirnia, J. Beuten, M. Hardison, Z. Niu, R. Person,
M. Vatta, F. Xia, A. Hawes, M. Wang, Y. Ding, H. Sun, M.
Scheel, N. Saada, W. Liu, A. Braxton, P. Ward, A. Willis, J.
Wiszniewska, S. E. Plon, J. R. Lupski, A. L. Beaudet, R. A.
Gibbs, Y. Yang.
1743
W Diagnostic yield of single nucleotide
polymorphism array-based genotyping is equivalent
to metaphase cytogenetics for Turner syndrome.
S. K.
Prakash, D. C. Guo, C. L. Maslen, M. Silberbach, D. M.
Milewicz, C. A. Bondy, GenTAC Investigators.
1744
W High resolution copy number profiling of the X
chromosome in clinical diagnosis.
S. A. Yatsenko, S.
Madan-Khetarpal, U. Surti, A. Rajkovic.
1745
W MLPA-based strategy for discrete CNV
genotyping: CNV-miRNAs as an example.
M.
Marcinkowska, P. Kozlowski.
1746
W Turkish medical students perceived genetic
counseling style and the use of hypothetical genetic
testing across 5 psychiatric and 3 non-psychiatric
disorders.
D. Kinney, E. A. Ergul, K. Munir, O. Kutuk, F.
Topuz, A. Kanik.
1747
W Non-optical massive parallel DNA sequencing
of
BRCA1
and
BRCA2
genes: Towards the diagnostic
setting.
J. L. Costa, S. Sousa, R. Fernandes, L. Cirnes, J.
C. Machado.
1748
W Identifying the genetic cause of primary
immunodeficiency diseases: Development of a
next-generation sequencing approach for routine
diagnostics.
S. C. Drury, C. Bacchelli, S. Bibi, F. McKay,
L. Jenkins, H. B. Gaspar, C. M. Cale, K. C. Gilmour, N. J.
Lench.
1749
W Exome sequencing analysis for diagnostics.
C. Gilissen, M. Nelen, K. Neveling, R. de Reuver, L. E. L.
M. Vissers, N. Wieskamp, H. G. Yntema, J. de Ligt, M.
Rosario, H. G. Brunner, H. Scheffer, J. A. Veltman.
Cerqueira, M. Lazar, M. Vainzof, D. Schlesinger, M. Zatz.
1728
W Assessment of cascade testing in families of
carriers identified through newborn screening for
cystic fibrosis in western Brittany, France.
C. Ferec, I.
Dugueperoux, M.-P. Audrezet, P. Parent, V. Scotet.
1729
W NextGen sequencing of
HEXA
:
A more
sensitive assay.
J. Hoffman, M. Umbarger, C. Kennedy,
B. Bishop, P. Saunders, G. Porreca, E. Strovel, M.
Blitzer, J. Douyard, J. Davies, S. Hallam, V. Greger, C.
Towne.
1730
W No association between ATXN2 (SCA2)
CAG repeat expansion and amyotrophic lateral
sclerosis /parkinsonism-dementia complex of the
Kii Peninsula, Japan.
H. Tomiyama, C. Yamashita, R.
Sasaki, Y. Li, M. Funayama, N. Hattori, S. Kuzuhara, Y.
Kokubo.
1731
W Assigning disease liability of mutations in
the
CFTR
gene improves detection rate of CF carrier
screening.
K. R. Siklosi, P. R. Sosnay, F. Van Goor, K.
Kaniecki, M. Corey, A. S. Romalho, M. D. Amaral, R.
Dorfman, R. Karchin, M. H. Lewis, H. Yu, J. Zielenski,
J. M. Rommens, C. Castellani, C. M. Penland, G. R.
Cutting.
1732
W Mutational screening of
C9ORF72, SOD1,
TARDBP
and
FUS
genes in an ALS cohort from the
Northeastern part of Italy.
C. Bertolin, J. Agostini,
C. D’Ascenzo, F. Boaretto, C. Salvoro, C. Angelini, E.
Pegoraro, G. Sorarù, M. L. Mostacciuolo.
1733
W Cree leukoencephalopathy and Cree
encephalitis carrier screening program: Live
experiences of carrier and non-carrier couples.
J. Le
Clerc-Blain, H. Denoncourt, A. Richter, A. M. Laberge.
1734
W Diagnostic exome sequencing in movement
disorders.
E. J. Kamsteeg, C. F. H. A. Gilissen, K.
Neveling, H. J. E. de Reuver, B. P. C. van de Warrenburg,
M. A. A. P. Willemsen, S. Vermeer, H. G. Brunner, M. R.
Nelen, H. Scheffer.
1735
W Whole exome sequencing as an approach to
the diagnosis of the ataxic patients.
Y. Yang, M. Vatta,
Z. Niu, Y. Ding, H. Sun, M. Scheel, N. Saada, W. Liu, M.
Wang, D. P. Sexton, A. C. Hawes, M. N. Bainbridge, P. A.
Pham, J. G. Reid, D. M. Muzny, A. A. Braxton, P. A. Ward,
T. M. Balmakund, W. K. Chung, A. Willis, S. E. Plon, J. R.
Lupski, R. A. Gibbs, A. L. Beaudet, C. M. Eng.
1736
W A retrospective genetic analysis of cases
reported using an XLMR/XLID next-generation
sequencing panel.
M. Parra, S. Mexal, R. Hoiness, K.
Waller, I. Lu, C. Gau, J. A. Neidich, J. Wei.
1737
W Principles and informatic infrastructure
for implementing diagnostic next-generation
sequencing for genetically heterogeneous
conditions.
S. Topper, V. Nelakuditi, C. Tan, A. Reeder,
D. del Gaudio, S. Das.
1738
W Clinical characterization of patients