Page 244 - ASHG 2012 Annual Meeting Program Guide

POSTER SESSIONS
233
POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
2943
F
TIMM44
mutations identified by family-based
WES cause severe mitochondrial respiratory chain
disease due to defective mitochondrial protein import.
M. J. Falk, S. Srinivasan, S. Dingley, J. Ostrovsky, M.
Tsukikawa, E. Polyak, E. Place, M. Consugar, J. C. Perin,
N. Avadhani, E. A. Pierce, X. Gai.
2944
W A novel form of limb girdle muscular dystrophy
caused by impairment of an ER-to-Golgi trafficking
component.
N. Bögershausen, Y. Li, J. C. von Kleist-
Retzow, R. Wirth, G. Nürnberg, H. Thiele, J. Altmüller, B.
Schoser, P. Nürnberg, R. Heller, B. Wollnik.
2945
T Tackling giants with next-generation
sequencing: homozygous or compound heterozygous
truncating mutations of
TTN
from exome analysis
define novel forms of cardiomyopathy with skeletal
myopathy.
C. Chauveau, C. Julien, H. Marks, R. Foley, A.
L. Kho, B. Talim, M.-C. Arne-Bes, E. Uro-Coste, P. Maury,
A. Vihola, B. Udd, H. Topaloglu, S. Moore, M. Gautel, C.
Bonnemann, M.-E. Samuels, A. Ferreiro.
2946
F Exome sequencing for the molecular diagnosis
of muscle disorders: Successes and challenges
encountered.
K. K. McDonald, J. Stajich, C. P. Blach, A.
E. Ashley-Koch, M. A. Hauser.
2947
W Usher-exome: An efficient diagnostic approach
when used in combination with LSDB USHBases,
Variant Manager USHVAM and USMA.
A. F. Roux, T.
Besnard, G. Garcia Garcia, D. Baux, C. Vaché, L. Larrieu,
V. Faugère, J. Millan, M. Claustres.
2948
T Loss of function mutations in
HINT1
are a major
cause of autosomal recessive axonal neuropathy with
neuromyotonia.
M. Zimon, J. Baets, L. Almeida-Souza, J.
Nikodinovic, Y. Parman, E. Battaloglu, V. Guergueltcheva, I.
Tournev, M. Auer-Grumbach, P. De Rijk, T. Müller, E. Fransen,
P. Van Damme, W. Löscher, N. Barisˇic´, Z. Mitrovic, S. Previtali,
H. Topaloglu, G. Bernert, A. Beleza-Meireles, B. Ishpekova,
K. Peeters, A. Hahn, S. Züchner, V. Timmerman, P. Van Dijck,
V. Milic Rasic, A. Janecke, P. De Jonghe, A. Jordanova.
2949
F Identification of novel genes in human primary
immunodeficiency diseases using exome sequencing.
S. Khan, B. Wakeland, C. Liang, M. De la Morena, N. Van
Oers, E. Wakeland.
2950
W The
ADAMTS18
gene is responsible for autosomal
recessive syndromic retinal dystrophy.
S. Banfi, I. Peluso,
F. Testa, M. Pizzo, R. Collin, N. Meola, M. Mutarelli, G.
Dharmalingam, M. Melone, I. Conte, F. Simonelli.
2951
T Novel
PLP1
gene mutation discovered by whole
genome sequencing in brothers with infantile onset
dopa-responsive dystonia and delayed central nervous
system demyelination.
R. L. Margraf, J. Durtschi, K.
Mallempati, J. Bonkowsky, R. Lutz, K. V. Voelkerding, K. J.
Swoboda.
2952
F Digenic inheritance in autosomal recessive
non-syndromic hearing loss cases carrying
GJB2
heterozygote mutations: Assessment of
GJB4
and
GJA1
.
D. Kooshavar, M. R. Noori Daloii, M. Hashemzadeh
Chaleshtori.
2933
T Loss of function mutations in OMIM genes
reveal a burden of disease susceptibility in a
consanguineous population.
K. A. Fakhro, J. L.
Rodriguez-Flores, N. R. Hackett, J. Salit, J. Fuller, J. A.
Malek, L. Chouchane, R. Badii, A. Al-Marri, J. G. Mezey,
R. G. Crystal.
2934
F Causal gene discovery in Mendelian disorders
using whole exome sequencing.
S. Jhangiani,
M. Bainbridge, J. Lu, M. Wang, H. Dinh, Y. Han, J.
Santibanez, M. Caramins, P. Campeau, B. Lee, J. Reid, J.
Lupski, E. Boerwinkle, D. Muzny, R. Gibbs.
2935
W Whole genome sequencing and copy number
analysis of exome sequencing in two families with split-
hand/split-foot malformation identifies chromosomal
rearrangements affecting putative exonic enhancers.
H.
Lango Allen, R. Caswell, P. Turnpenny, C. Turner, C. Wragg,
W. Xie, M. Weedon, X. Xu, S. Ellard.
2936
T Searching novel genes for hereditary hearing
loss in multiplex families using next generation
sequencing.
Y. H. Lin, C. C. Wu, Y. C. Lu, C. J. Hsu, P. L.
Chen.
2937
F Combination of genomic technologies and
consanguinity in order to identify pathogenic variants
in recessive disorders.
P. Makrythanasis, M. Nelis, F.
Santoni, M. Guipponi, F. Béna, A. Vannier, G. Duriaux-
Sail, S. Gimelli, E. Stathaki, E. Falconnet, S. Temtamy, A.
Megarbane, M. Aglan, M. S. Zaki, S. Fokstuen, A. Bottani,
A. Masri, S. Psoni, S. Kitsiou, H. Fryssira, N. All-Allawi,
A. Sefiani, S. Al-Hait, S. Elalaoui, N. Jalkh, L. Al-Gazali,
F. Al-Jasmi, H. Chaabouni Bouhamed, H. Hamamy, S. E.
Antonarakis.
2938
W A single exome variant is the only expected
variant by likelihood ratio for a rare heritable de novo
dominant disorder in a three generation family with
two affected.
S. M. Marchegiani, T. C. Markello, L. A.
Wolfe, K. Fuentes-Fajardo, D. R. Adams, W. A. Gahl, J. C.
Mullikin, T. Davis, J. P. Accardi, C. J. Tifft, C. F. Boerkoel,
NISC Comparative Sequencing Program.
2939
T Whole-genome sequencing identifies mutations
in known and novel genes for early infantile epileptic
encephalopathy.
H. C. Martin, A. T. Pagnamenta, K.
Hudspith, A. Rimmer, R. Copley, E. Sadighi Akha, J.
Broxholme, A. Kanapin, J.-B. Cazier, D. Shears, H.
Stewart, D. Bentley, J. Taylor, E. Blair, P. Donnelly.
2940
F Novel intellectual disability genes identified by
exome sequencing.
R. Rabionet, O. Drechsel, A. Puig, J.
Gonzalez, I. Madrigal, M. I. Alvarez, N. Baena, M. Viñas, S.
Ossowski, M. Guitart, M. Mila, X. Estivill.
2941
W Targeted deep resequencing identifies a
mutation in
MID2
,
as causal for X-linked intellectual
disability with varied disease severity.
B. K. Thelma, S.
G. Thenral, A. Michealraj, M. Kabra, G. Kaur, R. C. Juyal.
2942
T Exome sequencing and functional biology
reveal novel genes causing infantile mitochondrial
encephalopathy.
P. Bonnen, A. Besse, T. Donti, S. Lalani,
F. Scaglia, W. Craigen, B. Graham.