Page 252 - ASHG 2013 Program Guide

POSTER SESSIONS
  239
POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
3092
W Identification of a novel
GATA3
mutation in a
Taiwanese family with idiopathic sensorineural hearing
impairment by massively parallel sequencing.
Y. H. Lin,
C. C. Wu, T. Y. Hsu, W. Y. Chiu, C. J. Hsu, P. L. Chen.
3093
T
DNM2
Related centronuclear myopathy
found with the use of exome sequencing in a patient
with clinical diagnosis of peripheral neuropathy.
D.
Safka Brozkova, J. Haberlova, M. Gonzales, S. Zuchner,
P. Seeman.
3094
F Comprehensive molecular diagnosis of 179
Leber congenital amaurosis and juvenile retinitis
pigmentosa patients by targeted next-generation
sequencing.
X. Wang, H. Wang, V. Sun, H. Tuan, V. Keser,
K. Wang, H. Ren, I. Lopez, J. E. Zaneveld, S. Siddiqui, S.
Bowles, A. Khan, J. Salvo, S. G. Jacobson, A. Iannaccone,
F. Wang, D. Birch, J. R. Heckenlively, G. A. Fishman, E. I.
Traboulsi, Y. Li, D. Wheaton, R. K. Koenekoop, R. Chen.
3095
W A founder mutation in
COL4A3
causes
autosomal recessive Alport syndrome in the Ashkenazi
Jewish population.
B. D. Webb, T. Brandt, L. Liu, J.
Liao, C. Jalas, A. Fedick, M. D. Linderman, G. A. Diaz, R.
Kornreich, H. Trachtman, L. Mehta, L. Edelmann.
3096
T De novo frameshift mutation in
ASXL3
in a
patient with global developmental delay, microcephaly,
and craniofacial anomalies.
D. L. Dinwiddie, S. E. Soden,
C. J. Saunders, N. A. Miller, E. G. Farrow, L. D. Smith, S.
F. Kingsmore.
3097
F Unraveling disease genes causing autosomal
recessive disorders in Qatari population by whole
exome sequencing.
S. Fahiminiya, M. Almuriekhi, Z.
Nawaz, K. H. Abu Khadija, J. Majewski, T. Ben-Omran.
3098
W Exome sequencing unveils novel disease-
causing variation in a Charcot-Marie-Tooth disease
cohort.
C. Gonzaga-Jauregui, T. Harel, D. Pehlivan, Y.
Okamoto, W. Wiszniewski, D. Muzny, R. A. Gibbs, J. R.
Lupski, Centers for Mendelian Genomics.
3099
T A novel missense mutation in
EDAR
underlies
the autosomal recessive hypohidrotic ectodermal
dysplasia with bilateral amastia and palmoplantar
hyperkeratosis.
H. Haghighi-Kakhki, A. Haghighi, P.
Nikuei, N. Saleh-Gohari, S. baghestani, P. Krawitz, J.
Hecht, S. Mundlos.
3100
F Whole exome sequencing and genome-wide
homozygosity mapping analysis of fetal autopsy tissue
reveals a putative pathogenic frameshift mutation in
OBSL1
,
consistent with a diagnosis of 3-M syndrome.
A. C. Lionel, R. F. Wintle, S. Farrell, D. Cushing, T. Paton,
T. L. Stockley, D. J. Stavropoulos, P. N. Ray, M. Szego, L.
Lau, S. L. Pereira, C. R. Marshall, S. W. Scherer.
3101
W Functional evaluation of candidate mutations
identified in whole exome sequneces of patients with
undiagnosed diseases.
Y. Lu, P. Xie, E. Ruzzo, A. Need,
V. Shashi, Y. Jiang, X. Zhu, D. Goldstein.
3081
T Integrative genomics reveals that distal
cis-regulatory mutations cause isolated pancreatic
agenesis.
M. N. Weedon, I. Cebola, A. Patch, S. E.
Flanagan, E. De Franco, R. Caswell, S. A. Rodríguez-
Seguí, C. Shaw-Smith, C. Cho, H. Lango Allen, J. A. L.
Houghton, C. L. Roth, R. Chen, K. Hussain, P. Marsh, L.
Vallier, A. Murray, S. Ellard, J. Ferrer, A. T. Hattersley.
3082
F Clinical exome sequencing identifies de
novo mutations in the
MLL
gene causing atypical
Wiedemann-Steiner syndrome in two unrelated
Individuals.
F. Quintero-rivera, S. P. Strom, J. Mann, R.
Lozano, H. Lee, N. Dorrani, O. O’Lague, N. Mans, J. l.
Deignan, E. Vilain, S. F. Nelson, W. W. Grody.
3083
W Follow-up of diagnostic exome sequencing
in persons with severe intellectual disability: Re-
analysis of data, recurrency screening, CNV detection
and genome sequencing.
L. Vissers, H. IJntema, J.
Hehir-Kwa, C. Gilissen, J. de Ligt, R. Leach, R. Tearle,
W. Nillesen, B. van Bon, M. Willemsen, H. Scheffer, H.
Brunner, B. de Vries, T. Kleefstra, J. Veltman.
3084
T Mutation analysis of the
RBPJ
gene in Adams-
Oliver syndrome patients.
W. Wuyts, F. de Vogel, E. Van Hul.
3085
F Application of targeted next-generation
sequencing in the diagnosis of pediatric neurological
disorders.
N. Okamoto, F. Miya, T. Tsunoda, M. Kato, S.
Saitoh, M. Yamasaki, Y. Kanemura, K. Kosaki.
3086
W Disruption of the Rac GTPase activator
DOCK7
in epileptic enecephalopathy.
F. F. Hamdan, J. M. Capo-
Chichi, B. Maranda, G. A. Rouleau, J. L. Michaud.
3087
T Whole genome sequencing, clinical
interpretation, and deep brain stimulation in a severely
mentally ill person.
G. J. Lyon, J. O’Rawe, R. Robison, E.
Kiruluta, G. Higgins, M. Reese.
3088
F Genes make sense: Seeking causative genes
for human congenital general anosmia.
A. Alkelai, T.
Olender, P. Tatarskyy, V. Boyko, D. Oz-Levi, I. Keydar, R.
Milgrom, E. Feldmesser, E. Ben-Asher, E. K. Ruzzo, D. B.
Goldstein, E. Pras, D. Lancet.
3089
W Genetic mapping and whole exome sequencing
to unravel the genetic basis of undiagnosed non-
syndromic arthrogryposis multiplex congenita.
J.
Melki, J. Maluenda, A. Camus, F. Nolent, L. Fontenas,
K. Dieterich, J. Zhou, N. Monnier, P. Latour, D. Heron, T.
Attie-Bitach, I. Desguerres, S. Lyonnet, C. Beneteau, C.
Bauman, D. Bonneau, A. Goldenberg, C. Bellesme, C.
Francannet, L. Rigonnot, S. Sigaudy, J. Lunardi, S. Odent,
P. S. Jouk, M. Granier, D. Sternberg, I. Gut, M. Tawk, M.
Gonzales, A. Laquerriere.
3090
T Scientific advances f om removing the financia
barrier: Results of the NGS pilot program at Boston
Children’s Hospital.
C. A. Brownstein, W. A. Wolf, T. W. Yu,
L. M. Kunkel, C. A. Walsh, A. H. Beggs, D. M. Margulies.
3091
F Alu Yb8 insertion near
SMN1
exon 7 as a rare
cause of SMA.
S. M. Kirwin, K. M. B. Vinette, I. L. Gonzalez,
S. L. Dugan, K. J. Swoboda, T. M. Newcomb, V. L. Funanage.