Page 242 - ASHG 2012 Annual Meeting Program Guide

POSTER SESSIONS
231
POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
2901
F Diagnosis of syndromic autism using a 62-gene
next-generation sequencing panel: Experience from
a clinical diagnostic laboratory.
J. R. Jones, M. J.
Basehore, S. McGee, K. J. Champion, M. J. Friez.
2902
W Empowering a clinical genetic setting through
the introduction of whole exome sequencing in
prenatal and postnatal investigations.
C. Pangalos, B.
Hagnefelt, Z. Agioutantis, C. Konialis.
2903
T Use of whole exome sequencing to determine
the genetic etiology of inherited congenital cataracts.
L. M. Reis, R. C. Tyler, E. V. Semina.
2904
F A next-generation sequencing assay for the
diagnosis of the Noonan spectrum of disorders.
A. B.
Santani, T. Tischler, A. Sasson, J. Perin, M. Sarmady, E.
Frackelton, B. Tweddale, N. Abdel-Magid, S. Panossian,
P. Warren, H. Feret, M. Deardorff, A. Wilkens, M. Italia,
B. Ruth, J. Miller, E. Zackai, D. Monos, E. Rappaport, H.
Hakonarson, P. White, C. Stolle.
2905
W French Canadian founder mutation in the
SBDS
gene causing Shwachman-Diamond Syndrome.
L.
Steele, M. Eliou, J. M. Rommens, P. N. Ray, T. L. Stockley.
2906
T Confirmation of cause and manner of death
via a comprehensive cardiac autopsy including whole
exome next-generation sequencing.
D. J. Tester, J. J.
Maleszewski, T. M. Kruisselbrink, M. J. Ackerman.
2907
F Diagnostic exome sequencing uncovers
Mendelian inheritance in neurological disease.
E. C.
Chao, X. Li, K. Gonzalez, A. Fatemi, J. Cohen, W. Zeng.
2908
W Whole exome sequencing identifies potential
homozygous mutations in a family with two sisters
with brain malformation.
E. Karaca, D. Pehlivan, C. G.
Gonzaga-Jauregui, M. Ozen, A. Yuksel, W. Wiszniewski,
A. Stray-Pedersen, D. Munzy, R. A. Gibbs, J. R. Lupski,
Baylor-Hopkins Center for Mendelian Genetics.
2909
T Recessive mutations in
MYL2
cause infantile
fiber type disproportion and cardiomyopathy.
M. A.
J. Weterman, P. B. Barth, K. Y. van Spaendonck-Zwarts,
E. Aronica, B. T. Poll-The, O. Brouwer, J. P. van Tintelen,
Z. Qahar, E. J. Bradley, M. B. de Wissel, L. Salviati, C.
Angelini, L. van den Heuvel, Y. E. M. Thomasse, A. P.
Backx, G. Nuernberg, P. Nuernberg, F. Baas.
2910
F Molecular diagnosis in Stargardt’s disease
through a tiered sequencing approach.
J. Zaneveld,
H. Wang, F. Wang, L. Mao, K. Zhang, Y. Duan, J. Zhu, J.
Chiang, R. Chen.
2911
W Identification of mutations in the prostaglandin
transporter gene
SLCO2A1
in Japanese patients with
pachydermoperiostosis.
J. Kudoh, T. Sasaki, A. Shimizu,
A. Shiohama, A. Hirakiyama, T. Okuyama, A. Seki, K.
Kabashima, A. Otsuka, A. Ishiko, K. Tanese, S. Miyakawa,
J. Sakabe, M. Kuwahara, M. Amagai, H. Okano, M.
Suematsu, H. Niizeki.
2890
W Congenital cataracts, hypomyelination,
progressive microcephaly, digital anomalies: A new
recessive syndrome due to mutations in a nucleoporin
gene?
E. Geraghty, G. Carvill, I. Glass, R. Kapur, D.
Doherty, H. Mefford.
2891
T Trio-exome sequencing identifies mutations
of the gene encoding the histone acetyltransferase
KAT6B/MYST4
in individuals with the Young-Simpson
syndrome.
K. Kurosawa, K. Enomoto, T. Kondoh,
S. Mizuno, M. Adachi, K. Muroya, Y. Yamanouchi, T.
Nishikawa, N. Furuya, M. Tominaga, T. Naruto, K. Ida, Y.
Kuroda, T. Sengstag, R. Manabe, M. Masuno.
2892
F Exome sequencing identifies a missense
mutation of
ANKRD26
in autosomal dominant
thrombocytopenia.
C. Kim, P. M. A. Sleiman, L. Tien,
S. Panossian, K. Xu, B. Tweddale, N. Abdel-Magid, E.
Frackelton, Y. Housawi, H. Hakonarson.
2893
W Holoprosencephaly: Identification of new
candidate genes by high throughput sequencing of
family trios.
V. David, C. Dubourg, M. de Tayrac, V. Dupé,
M. Aubry, L. Ratié, S. Mercier, J. Mosser, S. Odent.
2894
T Exome sequencing reveals a novel de novo
GNAS
gene mutation in a boy with usual presentation
of pseudohypoparathroidism.
M. J. Dasouki, S. E.
Soden, E. G. Farrow, C. J. Saunders, D. L. Dinwiddie, N. A.
Miller, S. F. Kingsmore.
2895
F Clinical diagnostic exome identifies novel
mutations in the
C20orf7
gene, a mitochondrial
complex I assembly factor, in a Taiwanese infant with
Leigh’s disease.
J. J. Wei, K. D. Gonzalez, X. Li, H. M. Lu,
H. Lu, R. Chang, R. Wang, J. Abdenur, W. Zeng.
2896
W De novo mutations in
MLL
cause Wiedemann-
Steiner syndrome.
W. D. Jones, D. Dafou, M. McEntagart,
W. J. Woollard, F. V. Elmslie, M. Holder-Espinasse, M.
Irving, M. Lees, A. K. Saggar, S. Smithson, R. C. Trembath,
C. Deshpande, M. A. Simpson.
2897
T Targeted resequencing of known and candidate
epilepsy genes in 500 patients with epileptic
encephalopathies.
G. Carvill, B. J. O’Roak, S. C. Yendle,
J. Cook, N. Krumm, S. F. Berkovic, J. Shendure, I. E.
Scheffer, H. C. Mefford.
2898
F Deciphering the genetic basis of progressive
myoclonus epilepsies by exome sequencing.
M.
Muona, S. F. Berkovic, L. Dibbens, K. L. Oliver, T. Joensuu,
E. Hämäläinen, A. Palotie, A.-E. Lehesjoki.
2899
W Mutations in a zinc finger protein cause a novel
autosomal recessive mental retardation syndrome
identified through homozygosity mapping and whole
exome sequencing of a single affected individual.
M. Kambouris, T. Ben-Omran, Y. Al-Sarraj, R. Ali, M.
Almureikhi, K. Erraffi, H. El-Shanti.
2900
T Exome sequencing of seven cases affected
by a congenital muscular dystrophy with hyperlaxity
belonging to five French-Canadian families.
M.
Tétreault, G. D’Anjou, J. Mathieu, M. Vanasse, B. Brais.