Page 241 - ASHG 2012 Annual Meeting Program Guide

W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
T Identifying mutations causing atypical progeria
by exome sequencing and CNV analysis.
K. M.
McSweeney, L. B. Gordon, J. Xu, W. Ping, M. F. Arlt, J. Li,
T. Glover.
F Diagnostic sequencing applications using the Ion
D. Muzny, X. Wang, C. Buhay, M. Wang, H. Dinh, J.
Reid, D. Wheeler, L. Lotta, E. Boerwinkle, R. Gibbs.
W Next-generation sequencing reveals an allelic
variant of
in a Turkish pedigree with a unique
clinical phenotype.
D. Pehlivan, A. Yesilyurt, C. G.
Gonzaga-Jauregui, E. Karaca, Y. Pehlivan, S. Guran, R. A.
Gibbs, J. R. Lupski.
T Rapid and efficient mutation detection in
the hundreds of target genes by bench-top next
generation sequencer with custom target capture
A. Shimizu, C. Torii, N. Suzuki, H. Mutai, J.
Kudoh, R. Kosaki, T. Matsunaga, K. Kosaki.
F Identification of candidate genes associated
with autosomal dominant pulmonary fibrosis by whole-
exome sequencing.
W. Wiszniewski, C. G. Gonzaga-
Jauregui, T. J. Vece, D. M. Muzny, M. N. Bainbridge, J. G.
Reid, R. A. Gibbs, J. R. Lupski, Baylor-Hopkins Center for
Mendelian Genomics.
W Family matters: Exome sequencing can identify
causal variants in isolated probands through family-
based studies.
H. Yu, C. R. Coughlin, E. A. Geiger, M.
Friederich, L. Medne, J. E. Ming, E. H. Zackai, J. L. Van
Hove, X. Gai, G. H. Scharer, T. H. Shaikh.
T Whole exomic triangulation and systems biology
identify novel pathogenic substrates for autosomal
dominant long QT syndrome.
N. J. Boczek, D. J. Tester,
J. R. Giudicessi, T. J. Kamp, M. J. Ackerman.
F X-exome sequencing identifies the
causal variant in a large pedigree with X-linked
intellectual disability, truncal obesity, gynecomastia,
hypogonadism and unusual face.
J. K. P. van Amstel, M.
Harakalova, M. J. van den Boogaard, R. J. Sinke, S. van
Lieshout, M. van Tuil, K. Duran, I. Renkens, P. A. Terhal,
C. G. F. de Kovel, I. J. Nijman, M. M. van Haelst, N. V. A.
M. Knoers, G. van Haaften, W. P. Kloosterman, R. C. M.
Hennekam, E. Cuppen.
W Completing the BBS jigsaw by exome
sequencing and phenotype-genotype correlations:
a BBSome-related gene associated with
developmental features is BBS17.
H. Dollfus, F. Stutzman,
M. Gerard, A. Verioes, E. Schaefer, C. Stoetzel, V. Marion.
T Simultaneous identification of single nucleotide
mutations and DNA copy number aberrations in
neurodevelopmental disorders by exome sequencing.
A.-M. Sulonen, H. Almusa, H. Edgren, P. Ellonen, L.
Forsstrom, T. Linnankivi, S. Knuutila, J. Saarela.
mutation in a child with developmental
delay and multiple congenital anomalies.
M. S. Brett, A.
H. M. Lai, E. C. P. Lim, J. R. McPherson, B. W. M. Cham,
Z. J. Zang, P. Tan, S. Rozen, E. C. Tan.
T Exome sequencing in small families segregating
autosomal dominant non-syndromic hearing loss.
Azaiez, E. Shearer, K. Booth, M. Hildebrand, N. Meyer, R.
J. H. Smith.
F Application of massive parallel sequencing for
mutation discovery and genetic diagnosis of hereditary
hearing loss in Chinese DFNA families.
H. Yuan, J.
Cheng, Y. Lu, X. Zhou, X. Zhang, R. Choy.
W A new gene for autosomal recessive
congenital ichthyosis identified by exome sequencing
demonstrates impact of ceramide synthesis and acyl
chain length for keratinocyte terminal differentiation.
Eckl, R. Tidhar, M. L. Preil, H. Thiele, I. Hausser, V. Oji, A.
Önal-Akan, S. Brodesser, F. Stock, R. Casper, J. Altmüller,
P. Nürnberg, H. Traupe, A. H. Futerman, H. C. Hennies.
T The NIH Undiagnosed Diseases Program:
Defining pathogenicity for personalized medicine.
F. Boerkoel III, M. C. Malicdan, D. Adams, C. Toro, C. Tifft,
W. A. Gahl, T. Markello.
F Efficient search for allelically heterogeneous
disease genes in whole genome or exome datasets.
D’Aco, M. A. Aquino, N. M. Pearson.
W From large-scale clinical recruitment to
identification of a novel mutation in
in a
family with Ehler-Danlos syndrome.
A. S. Desai, D.
Hadley, L. Tian, C. Kim, E. Frackelton, R. Chiavacci, F. G.
Otieno, F. Mentch, H. Hakonarson, K. Wang, S. Pannosian.
T Exome sequencing for the knowledge-
driven and unbiased disease-mutation search of
mitochondrial respiratory chain disorder.
M. Kohda, Y.
Tokuzawa, Y. Moriyama, H. Kato, N. Uehara, Y. Nakachi,
N. Matoba, S. Tamaru, Y. Kishita, T. Yamazaki, M. Mori, K.
Murayama, Y. Mizuno, A. Ohtake, Y. Okazaki.
F Exome sequencing for disease gene discovery
in Jeune’s asphyxiating thoracic dystrophy.
P. Taylor, S.
Wu, S. F. Nelson, D. H. Cohn, D. Krakow.
W Seeking causative genes for human congenital
general anosmia in multiply-affected Israeli families.
A. Alkelai, T. Olender, D. Oz-Levi, I. Keydar, R. Milgrom, E.
Feldmesser, E. Ben-Asher, E. K. Ruzzo, D. B. Goldstein, E.
Pras, D. Lancet.
T Studying a locus for bilateral congenital
perisylvian polymicrogyria: Linkage analysis,
cytoscan HD array and target enrichment/sequencing
F. R. Torres, S. S. Tsuneda, E. H. Yamamoto,
R. Secolin, M. G. Borges, W. T. S. T. Ide, C. S. Rocha, F. M.
Artiguenave, F. Cendes, M. Guerreiro, I. Lopes-Cendes.
F Targeted exome sequencing for molecular
diagnostics of heterogeneous genetic disorders:
Primary ciliary dyskinesia.
J.-L. Blouin, J. Bevillard,
M. Guipponi, C. Gehrig, A. Vannier, F. Santoni, S. E.
Antonarakis, F. Fellmann, S. Fokstuen, R. Lazor.
W Mutations affecting components of the
SWI/SNF complex cause Coffin-Siris syndrome.
Matsumoto, Y. Tsurusaki, N. Miyake.