Page 251 - ASHG 2013 Program Guide

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POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
3071
W Whole exome sequencing of permanent
neonatal diabetes patients.
H. M. Highland, H. Ye, J. E.
Below, V. P. Paz, D. Muzny, R. A. Gibbs, E. Boerwinkle, C.
L. Hanis, G. I. Bell, L. H. Philipson, S. A. W. Greeley.
3072
T Pseudoxanthoma elasticum in a United States
veteran.
S. Konda, W. Chen, J. Toro.
3073
F A novo mutation in
TLE3
,
encoding the
transducin-like enhancer protein 3, is associated with
a rare subtype of frontonasal dysplasia.
Y. Xi, C. L.
Beaulieu, A. C. Smith, J. Schwartzentruber, F. P. Favaro, D.
B. Bulman, M. A. Guion-Almeida, A. Richieri-Costa, A. M.
Innes, K. M. Boycott, FORGE Canada Consortium.
3074
W Minimal evidence for oligogenic inheritance
in Joubert syndrome based on the first 20 genes
R.
Bachmann-Gagescu, I. Phelps, B. O’Roak, C. Isabella,
D. O’Day, M. Kircher, J. Dempsey, I. Glass, D. Witten, G.
Cooper, J. Shendure, D. Doherty.
3075
T Exome sequencing identifies germline
mutations in
SPAG1
as a cause of primary ciliary
dyskinesia associated with defective outer and inner
dynein arms.
M. A. Zariwala, L. E. Ostrowski, N. T. Loges,
T. Hurd, M. W. Leigh, L. Huang, W. E. Wolf, J. L. Carson,
M. J. Hazucha, W. Yin, S. D. Davis, S. D. Dell, T. W. Ferkol,
S. D. Sagel, K. N. Olivier, C. Jahnke, H. Olbrich, C. Werner,
H. Y. Gee, E. A. Otto, J. Halbritter, E. H. Turner, A. P.
Lewis, M. J. Bamshad, D. A. Nickerson, F. Hildebrandt, J.
Shendure, H. Omran, M. R. Knowles, Genetic Disorders of
Mucociliary Clearance Consortium.
3076
F A genetic snapshot of risk alleles in the Jewish
population.
D. Zielinski, Y. Erlich.
3077
W Exome sequencing identifies de novo and post
zygotic mutations in
GATA6
associated with congenital
diaphragmatic hernia.
J. Bennett, L. Yu, J. Wynn, Y. H.
Cheung, Y. Shen, G. B. Mychaliska, T. M. Crombleholme,
K. S. Azarow, F. Y. Lim, D. H. Chung, D. Potoka, B. W.
Warner, B. Bucher, C. Stolar, G. Aspelund, M. S. Arkovitz,
H. Mefford, W. K. Chung, University of Washington Center
for Mendelian Genomics.
3078
T Whole exome sequencing identified a
homozygous
FNBP4
mutation in a family with
a condition similar to microphthalmia with limb
anomalies.
Y. Kondo, E. Koshimizu, A. Megarbane,
H. Hamanoue, I. Okada, K. Nishiyama, H. Kodera, S.
Miyatake, Y. Tsurusaki, M. Nakashima, H. Doi, N. Miyake,
H. Saitsu, N. Matsumoto.
3079
F Depletion of exome sequencing reads reveals
a 14kb homozygous deletion in a patient with PHARC
syndrome.
T. Harel, C. Gonzaga-Jauregui, T. O. Crawford,
M. Koenig, R. A. Gibbs, J. R. Lupski, Baylor-Hopkins
Center for Mendelian Genomics.
3080
W From monogenic to oligogenic: strategies
to uncover oligogenic modes of inheritance in
individuals with intellectual disability.
W. D. Jones, M.
Van Kogelenberg, D. King, T. Fitzgerald, H. V. Firth, M. E.
Hurles, J. C. Barrett, Deciphering Developmental Disorders
Study.
3060
T Mild case of Unverricht-Lundborg disease
presenting as juvenile myoclonic epilepsy.
E.
Andermann, D. Amrom, F. Andermann, A.-L. Lehesjoki.
3061
F Whole exome sequencing combined with
homozygosity mapping in a family with mental
retardation, muscle weakness, and abnormal
movement.
E. Jaberi, B. Farham, G. A. Shahidi, M.
Rohani, I. Safari, B. Klotzle, E. Elahi.
3062
W Next-generation sequencing defines new
gene(s) involved in the enlarged vestibular aqueducts
and Pendred syndrome.
F. Alasti, M. Hildebrand, T. Yang,
R. J. H. Smith.
3063
T Haploinsufficiency of
GJB5
identified via exome
sequencing causes a novel form of cutis laxa.
M.
Dasouki, J. Roberts, K. Gonzalez, W. Zeng, M. Butler, A.
Belousov, I. Saadi.
3064
F Identification of mutations causing congenital
anomalies of the kidney and urinary tract through
targeted sequencing.
N. Nicolaou, I. J. Nijman, A. M.
van Eerde, G. Monroe, E. M. Bongers, E. Cuppen, K. Y.
Renkema, N. V. Knoers.
3065
W De novo germline mutations in
MYL3
and
DYNC1H1
genes discovered by exome sequencing in
an infant with congential joint contractures.
D. W. Sant,
R. L. Margraf, J. Durtschi, T. M. Newcomb, J. M. Opitz,
J. C. Carey, H. Zhou, B. E. Katz, K. V. Voelkerding, K. J.
Swoboda.
3066
T
ZNF259
is a candidate gene for alopecia-
primordial dwarfism- enal syndrome.
A. C. Smith, C. L.
Clericuzio, A. Ahmed, S. L. Sawyer, D. E. Bulman, K. M.
Boycott, FORGE Canada Consortium.
3067
F Novel
MSX1
mutations in Japanese tooth
agenesis patients.
S. Yamaguchi, J. Machida, M.
Kamamoto, M. Kimura, A. Shibata, T. Tatematsu, H.
Miyachi, Y. Higashi, P. Jezewski, A. Nakayama, K.
Shimozato, Y. Tokita.
3068
W Whole exome sequencing identifies variants
causing different monogenic diseases in one nuclear
family.
Y. Li, E. Lausch, K. O. Schwab, N. van der
Werf-Grohmann, T. Velten, D. Lütjohann, P. V. Lorini, U.
Matysiak-Scholze, B. Zabel, A. Köttgen.
3069
T Isolated X-linked hypertrophic cardiomyopathy
with restrictive physiology caused by a novel
mutation of the four-and-a-half LIM domain 1 gene.
H. Hartmannova, M. Kubanek, M. Sramko, L. Piherova, L.
Noskova, K. Hodanova, V. Stranecky, A. Pristoupilova, J.
Sovova, T. Marek, J. Maluskova, P. Ridzon, J. Kautzner, H.
Hulkova, S. Kmoch.
3070
F Mutations in
PIK3R1
cause SHORT syndrome.
D. Dyment, A. Smith, D. Alcantara, J. A. Schwartzentruber,
L. Basel-Vanagaite, C. J. Curry, I. K. Temple, W. Reardon,
S. Mansour, M. R. Haq, R. Gilbert, O. J. Lehmann, M. R.
Vanstone, C. L. Beaulieu, FORGE Canada Consortium, J.
Majewski, D. E. Bulman, M. O’Driscoll, K. M. Boycott, A.
M. Innes.