Page 193 - ASHG 2012 Annual Meeting Program Guide

182
POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
A. Scheuerle, M. K. Koenig, S. E. Plon, J. R. Lupski, R. A.
Gibbs, A. L. Beaudet, Y. Yang, C. M. Eng.
1762
W National Institutes of Health Genetic Testing
Registry.
W. S. Rubinstein, D. Maglott, B. L. Kattman,
A. Malheiro, J. Lee, M. Ovetsky, V. Hem, G. Song, V.
Gorelenkov, C. Fomous, J. Ostell.
1763
W EuroGentest Clinical Utility Gene Cards:
Progress and perspectives.
J. Schmidtke, A. Dierking.
1764
W Mutation screening of genes causing inherited
immunodeficiency and bone marrow failure using next-
generation sequencing.
T. A. Sivakumaran, A. Husami, D.
Kissell, K. Zhang.
1765
W Mutation analysis of the
SOX2
and
OTX2
genes
in 235 patients with developmental eye disorders.
N.
Smaoui, B. Williams, S. Aradhya, S. Bale, S. Suchi, G.
Richard.
1766
W Digitizing clinical genetic literature: A
comprehensive, accurate and scalable approach.
M.
Sommargren, Locus Development, Inc.
1767
W Estimated variant rate for a next-generation
sequencing panel of 13 genes associated with hereditary
colon cancer.
A. J. Stuenkel, S. L. Tandy, J. D. Siegfried.
1768
W Simple and accurate assays for targeting
CFTR
mutations of specific geographic/ethnic
origins by PCR allelic discrimination: still a place for
targeted tools.
C. Vasseur, A. LeFloch, B. Costes, A. de
Becdelièvre, T. Casals, C. Costa, M. Goossens, E.
Girodon.
1769
W The CLARITY Challenge: Children’s leadership
award for the reliable interpretation and appropriate
transmission of your genomic information.
C. A.
Brownstein, E. T. DeChene, K. C. Flannery, S. W. Kong, M.
C. Connolly, I. S. Kohane, A. H. Beggs, D. M. Margulies.
1770
W What is a clinical grade genome?
F. De La Vega,
A. Russell, M. A. Morales, C. D. Bustamante, M. G. Reese.
1771
W The mutation type and effect of variants
underlying human genetic diseases.
J. Westbrook, Y.
Kobayashi, Locus Development, Inc.
1772
W Application of next-generation sequencing
technology in the study of mitochondrial diseases.
Y.
Ma, Y. Cao, Z. Chen, H. Pan, Y. Qi.
1773
W A combined next-generation sequencing and
exon-level aCGH diagnostic gene panel for severe
developmental delay and epilepsy phenotypes.
N.
J. Lench, H. Moody, A. McTague, E. Meyer, S. Drury, S.
Fielding, R. Palmer, M. A. Kurian, R. H. Scott.
1774
W High-throughput mutation screening in patients
with inherited retinal dystrophies.
X. Wang, A. Turner, M.
Brooks, H. Rajasimha, K. Johnson, Y. Fann, A. Swaroop.
1775
W Predictive testing for neurodegenerative
1750
W Detection and mapping the breakpoints of
heteroplasmic mtDNA deletions by massively parallel
sequencing.
F.-Y. Li, H. Cui, D. Gonzalez, J. Wang, V.
Zhang, L.-J. Wong.
1751
W Three novel
AGL
mutations in glycogen storage
disease type III in Tunisian families.
A. Mili, O. Mamaï, I.
Ben Charfeddine, A. Amara, S. Pagliarani, S. Lucchiari, A.
Saad, K. Limem, M. Gribaa.
1752
W Multiplex PCR assay for detection of the 2
most common mutations in the profilaggrin gene (
FLG
)
involved in ichthyosis vulgaris.
G. Pont-Kingdon, L.
Hubley, E. E. Baldwin, E. Lyon.
1753
W
GeneReviews
™ as a source of medically
actionable information for coincidentally diagnosed
disorders.
M. P. Adam, C. R. Dolan, A. R. Amemiya, M.
Espeseth, T. D. Bird, K. Stephens, R. A. Pagon.
1754
W Comprehensive diagnostic hearing loss testing
on a single platform: The OtoGenome test.
S. S. Amr, T.
J. Pugh, E. Duffy, L. Farwell, S. Gowrisankar, A. Lovelette-
Hernandez, B. H. Funke, H. L. Rehm.
1755
W Allele drop out and
MECP2
genetic testing.
E.
Bettella, R. Polli, E. Leonardi, A. Murgia.
1756
W Screening for and Identification of pathogenic
mutations in patients with inherited retinal
degenerations using targeted enrichment and
next-generation sequencing.
M. B. Consugar, Z. D.
Fonseca-Kelly, E. M. Place, E. Au, S. M. Harper, X. Gai, E.
L. Berson, E. A. Pierce.
1757
W Validation of whole exome sequencing assay
for clinic service at Baylor College of Medicine.
Y. Ding,
D. M. Muzny, J. G. Reid, M. Wang, Y. Han, H. Dinh, D. P.
Sexton, M. N. Bainbridge, A. C. Hawes, P. Pham, B. Yin,
D. P. C. Ng, C. J. Buhay, J. Wiszniewska, M. Scheel, N.
Saada, W. Liu, H. Sun, R. A. Gibbs, A. L. Beaudet, C. M.
Eng, Y. Yang.
1758
W Advancing from targeted resequencing to whole
exome sequencing for improving the molecular diagnosis
of congenital disorders of glycosylation.
M. A. Jones, B.
G. Ng, P. He, M. E. Losfeld, S. Bhide, D. Rhodenizer, E. L. H.
Chin, M. He, H. H. Freeze, M. R. Hegde.
1759
W A novel splice site variant (IVS44-3T
.
C) in
COL3A1
results in small amounts of exon skipping
and complicates genetic counseling in a family with
features of hypermobility Ehlers-Danlos syndrome.
D.
F. Leistritz, U. Schwarze, D. Sarroza, P. D. Steele, C. Boni,
B. A. Salbert, P. H. Byers.
1760
W A DNA-based method for detecting
homologous blood doping.
I. Manokhina, J. L. Rupert.
1761
W Identification of
ARID1B
mutations in
intellectual disability/Coffin-Siris patients by clinical
whole exome sequencing analysis.
Z. Niu, M. Vatta, A.
Willis, Y. Ding, H. Sun, M. Scheel, N. Saada, W. Liu, M.
Wang, D. P. Sexton, A. C. Hawes, M. N. Brainbridge, P.
Pham, J. G. Reid, D. M. Muzny, P. A. Ward, A. A. Braxton,