Page 254 - ASHG 2013 Program Guide

POSTER SESSIONS
  241
POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
3132
T Independent origin of multifocal skin tumors and
high frequency of mosaicism in patients with tuberous
sclerosis complex.
M. E. Tyburczy, J. Wang, S. Li, R.
Thangapazham, Y. Chekaluk, J. Moss, D. Kwiatkowski,
T. Darling.
3133
F
REPS1
is a novel gene of neurodegeneration
with brain iron accumulation.
A. Drecourt, N. Boddaert, I.
Desguerre, D. Chretien, A. Munnich, A. Rotig.
3134
W Challenging diagnostic cases resolved by
whole exome sequencing.
S. F. Suchy, J. E. Abdenur,
T. Ben-Omran, W. K. Chung, K. Leydiker, S. J. Bale, A.
Daly, E. V. Haverfield.
3135
T Exome sequencing utility for implication
of genes in Mendelian disorders.
S. Jhangiani, M.
Bainbridge, C. Gonzaga-Jauregui, W. Wiszniewski, T.
Gambin, J. Lu, H. Doddapaneni, M. Wang, C. Buhay, H.
Dinh, Y. Han, C. Kovar, J. Santibanez, J. Reid, D. Valle,
E. Boerwinkle, D. Muzny, J. Lupski, R. Gibbs, Centers for
Mendelian Genomics.
3136
F Autosomal dominant FSGS without extra-renal
symptoms due to mutations in
LMX1B
gene.
K. J.
Johnson, O. Boyer, S. Woerner, F. Yang, E. O. Oakeley, B.
Linghu, O. Gribouval, M.-J. Tete, J. S. Duca, L. Klickstein,
A. J. Damask, J. D. Szustakowski, F. Heibel, M. Matignon,
V. Baudouin, F. Chantrel, J. Champigneuelle, L. Martin, P.
Nitshke, M.-C. Gubler, S.-D. Chibout, C. Antignac.
3137
W Niemann-Pick disease type C caused by
maternal uniparental isodisomy of chromosome 18.
M. Fietz, S. Stark, A. Leo, G. Jenkins, B. Bennetts, J.
Christodoulou.
3138
T Leber congenital amaurosis with early-onset
severe macular atrophy and optic atrophy is likely
pathognomonic of
NMNAT1
mutations.
I. Perrault, M.
Nicouleau, S. Hanein, N. Delphin, B. Gilbert-Dussardier,
C. Vincent-Delorme, C. Edelson, C. Hamel, E. Silva, S.
Defoort-Delhemmes, L. Fares-Taie, S. Gerber, X. Gerard,
A. Goldenberg, A. Duncombe, G. Le Meur, P. Calvas, A.
Munnich, O. Roche, H. Dollfus, J. Kaplan, J. Rozet.
3139
F Lujan-Fryns Syndrome — Conglomeration of
different genetic entities?
K. Hackmann, S. Maas, N. Di
Donato, E. Schrock, V. M. Kalscheuer, A. Rump.
3140
W Expression of mouse acidic mammalian
chitinase in periplasmic space of
Escherichia coli
.
K.
Okawa, A. Kashimura, K. Ishikawa, Y. Kida, K. Iwabuchi, Y.
Matsushima, M. Sakaguchi, Y. Sugahara, F. Oyama.
3141
T Familial generalized seizures due to LGI1
mutation: Importance of family history for genetic
testing.
D. R. M. Amrom, F. Andermann, E. Andermann.
3142
F Type V osteogenesis imperfecta: Don’t miss the
subtleties.
E. M. Carter, C. L. Raggio, J. G. Davis.
3143
W Mesenteric cyst: A case report and a review of
the genetic implications of this rare disease.
J. Davalos.
3122
W Diagnostic exome sequencing to elucidate
the genetic basis of likely recessive disorders in
consanguineous families.
P. Makrythanasis, M. Nelis, F.
A. Santoni, M. Guipponi, A. Vannier, F. Béna, S. Gimelli,
E. Stathaki, S. Temtamy, A. Megarbané, A. Masri, M. S.
Aglan, M. S. Zaki, A. Bottani, S. Fokstuen, S. Kitsiou-
Tzeli, H. Fryssira, E. Kanavakis, N. Al-Allawi, A. Sefiani, S.
Al-Hait, S. C. Elalaoui, N. Jalkh, L. Al-Gazali, F. Al-Jasmi,
H. Chaabouni Bouhamed, E. Abdalla, D. N. Cooper, H.
Hamamy, S. E. Antonarakis.
3123
T Exome sequencing identifies loss of functio
mutations in
UBE3B
in a family with intellectual
and developmental delay, hypotonia, distal digital
hypoplasia, and hearing loss.
Y. R. Li, S. A. Shalev, J.
Liang, Y. Guo, J. Zhang, B. J. Keating, Y. Chen, L. Tian, S.
S. Vergano, X. Xu, H. Hakonarson, J. Wang, M. A. Deardorff.
3124
F Affected sib analysis of human X-exome data
to identify novel X-linked intellectual disability genes.
T. Niranjan, C. Skinner, T. Turner, M. May, L. Holloway, A.
Chakravarti, C. Schwartz, T. Wang.
3125
W Novel
C10orf2
mutations cause Perrault
syndrome.
H. Kawakami, H. Morino, R. Miyamoto, H.
Maruyama.
3126
T Novel clinical presentations associated with
mutations in nuclear genes of the mitochondrial
translation apparatus.
M. Rio, Z. Assouline, A. S. Lebre,
N. Boddaert, I. Desguerre, A. Munnich, A. Rotig.
3127
F Targeted sequencing of mitochondrial exome
in pediatric patients with mitochondrial diseases.
M.
Tesarova, T. Honzik, H. Kratochvilova, A. Vondrackova, V.
Stranecky, M. Rodinova, H. Hansikova, J. Zeman.
3128
W Whole genome sequencing for rapid
identification of sequence variants associated with
recessive canine disease models.
G. S. Johnson, D. P.
O’Brien, R. Zeng, D. Gilliam, T. Mhlanga-Mutangadura, J.
R. Coates, M. L. Katz, J. F. Taylor, R. D. Schnabel.
3129
T Whole exome sequencing on two fetuses with
centronuclear myopathy of consanguineous parents
from Sudan shows two possible candidates.
N. Dohrn,
V. G. Le, A. Petersen, P. Skovbo, I. S. Pedersen, A. Ernst,
H. Krarup, M. B. Petersen.
3130
F Value of whole exome sequencing for novel
variant identification in Leber congenital amau osis.
Y. Guo, I. Prokudin, C. Yu, J. Liang, Y. Xie, M. Flaherty,
L. Tian, S. Crofts, F. Wang, J. Snyder, C. Donaldson, N.
Abdel-Magid, L. Vazquez, B. Keating, H. Hakonarson, J.
Wang, R. Jamieson.
3131
W
C5orf42
is the major gene responsible for OFD
syndrome type VI.
E. Lopez, C. Thauvin-Robinet, N. El
Khartoufi, L. Devisme, M. Holder, H. Ansart-Franquet,
D. Lacombe, P. Kleinfinger, I. Kaori, J. I. Takanashi, M.
Le Merrer, J. Martinovic, C. Noël, M. Shboul, L. Ho, Y.
Güven, F. Razavi, L. Burglen, V. Darmency-Stamboul, M.
Avila, J. Thevenon, B. Aral, H. Kayserili, S. Lyonnet, C. Le
Caignec, B. Franco, B. Reversade, L. Faivre, J. B. Rivière,
T. Attié-Bitach.