Page 247 - 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
2985
T Mutations of
TBC1D24
can cause
nonsyndromic deafness DFNB86 or unrelated
epilepsy disorders.
A. U. Rehman, K. Lee, R. J. Morell,
T. Ito, M. C. Drummond, S. Riazuddin, R. L. P. Santos-
Cortez, S. N. Khan, A. J. Griffith, S. Riazuddin, S. M. Leal,
T. B. Friedman.
2986
F Hippocampal defects in the FMR1 knockout
mouse.
F. Kooy, I. Heulens, V. Sabanov, T. Ahmed,
A. Popp, R. Willemsen, R. D’Hooge, D. Baltschun, L.
Rooms.
2987
W Analysis of genomic DNA sequence
based on new molecular diagnostic strategies for
neurofib omatosis type I.
S. Choi, J. Kim, J. Lee, J. Lee,
G. Kim, B. Lee, H. Yoo.
2988
T Comprehensive mutation analysis for hereditary
sensory and autonomic neuropathy using a next-
generation sequencing system.
J. Yuan, E. Matsuura,
Y. Higuchi, A. Hashiguchi, T. Nakamura, S. Nozuma, Y.
Sakiyama, A. Yoshimura, H. Takashima.
2989
F Whole exome sequencing identifies ra e
variants in Turkish patients with brain malformation.
E. Karaca, D. Pehlivan, C. Gonzaga-Jauregui, T. Gambin,
W. Wiszniewski, A. H. Cebi, M. M. Aatik, V. Gelowani, M.
Withers, D. Muzny, S. N. Jhangiani, R. A. Gibbs, J. R.
Lupski.
2990
W Investigating the genetic basis of amyotrophic
lateral sclerosis using next-gen techniques.
J. A. Fifita,
K. L. Williams, G. A. Nicholson, I. P. Blair.
2991
T Molecular genetics of primary microcephaly in
Indian population: Mutations in
WDR62, ASPM
and
STIL
genes.
A. Kumar, V. Bhat, G. Mohan, S. C. Girimaji.
2992
F Genetic background of inner ear malformation.
R. Birkenhager, E. Prera, S. Arndt, W. Maier, R. Laszig, A.
Aschendorff.
2993
W Using whole exome sequencing to diagnose
primary microcephaly caused by mutations in
ASPM
and
WDR62
.
A. H. Cebi, D. Pehlivan, E. Karaca, M. M.
Atik, T. Tos, W. Wiszniewski, Y. Bayram, D. Muzny, R. A.
Gibbs, J. R. Lupski.
2994
T ZBTB20-dependent transcription regulation
imbalance in autism and intellectual disability.
R.
Koul, L. Dukes-Rimsky, Y. Luo, K. A. Jones, E. Lemyre,
S. M. Sowell, D. P. Srivastava, S. Ladd, B. R. DuPont,
C. M. Wilson, C. Skinner, F. Gurrieri, R. E. Stevenson,
E. Boyd, J. L. Michaud, L. Wang, P. Penzes, A. K.
Srivastava.
2995
F Rare deletion of the
DMD
brain-specific
promoter results in ASD without muscle findings
H.
Mason-Suares, F. Probst, M. Hedge, B. Coffee.
2996
W Mitochondrial DNA deletions heteroplasmy
analysis using the next-generation sequencing.
Y.
Okamoto, J. Yuan, A. Yoshimura, S. Nozuma, Y. Higuchi, Y.
Sakiyama, A. Hashiguchi, I. Higuchi, H. Takashima.
2974
F Alteration of ganglioside biosynthesis
responsible for complex hereditary spastic paraplegia,
SPG26.
G. Stevanin, A. Boukhris, R. Schule, C. M.
Lourenço, J. L. Loureiro, M. A. Gonzalez, P. Charles, I.
Rekik, J. Gauthier, R. F. Acosta-Lebrigio, F. Speziani,
A. Ferbert, A. Caballero-Oteyza, A. Dionne-Laporte, A.
Noreau, M. Gaussen, P. Coutinho, P. Dion, F. Mochel, J.
Pouget, C. Mhiri, L. Schols, F. Darios, G. A. Rouleau, W.
Marques, Jr., A. Durr, S. Zuchner, A. Brice.
2975
W Neurofilament light gene mutation causes
hereditary motor and sensory neuropathy with
pyramidal signs.
H. Takashima, A. Hashiguchi, M.
Nomura, H. Arata, A. Yoshimura, Y. Higuchi, Y. Sakiyama,
T. Nakamura, Y. Okamoto, E. Matsuura.
2976
T
KIF5A
gene mutations in patients with spastic
paraplegia.
F. Taroni, S. Caldarazzo, E. Sarto, S. Baratta,
K. Savio, G. Galassi, A. Ariatti, G. Lauria, L. Nanetti, E.
Salsano, D. Pareyson, C. Mariotti, D. Di Bella.
2977
F A locus for autosomal recessive congenital
mirror movement disorder maps to 22q13.1.
J. B.
Vincent, M. A. Rafiq, P. John, I. A. Balouch.
2978
W The whole genome sequence of a Jack Russell
terrier with progressive spinocerebellar ataxia and
myokymia contains a homozygous disease-associated
KCNJ10
missense mutation.
D. Gilliam, J. R. Coates,
G. S. Johnson, L. Hansen, T. Mhlanga-Mutangadura, J. F.
Taylor, G. C. Johnson, R. D. Schnabel, D. P. O’Brien.
2979
T The
Alu
-
rich architecture of
SPAST
predisposes
to diverse and functionally distinct CNV alleles.
P. M.
Boone, I. M. Campbell, B. C. Baggett, J. C. Scull, C. J.
Shaw, M. A. Withers, P. Moretti, W. E. Goodwin, J. K.
Fink, A. Ordóñez-Ugalde, B. Quintáns, M.-J. Sobrido, S.
Stemmler, J. R. Lupski.
2980
F Tank-binding kinase 1 (
TBK1
),
autophagy, and
glaucoma.
J. H. Fingert, K. Anfinson, F. Solivan-Timpe, B.
R. Roos, A. Khanna, A. L. Robin, R. F. Mullins, B. A. Tucker.
2981
W Lamin B1 over-expression is associated with
nuclear defects and alterations in nuclear structure.
H.
Rolyan, K. Dahl, N. Dahl, A. Melberg, C. F. M. de Souza, F.
P. Vairo, A. Brusco, Q. S. Padiath.
2982
T Mechanisms underlying non-recurrent
microdeletions causing neurofib omatosis type-1.
J.
Vogt, K. Bengesser, K. Claes, K. Wimmer, L. Messiaen,
V.-F. Mautner, R. van Minkelen, E. Legius, H. Brems, T.
Rosenbaum, M. Upadhyaya, D. N. Cooper, H. Kehrer-
Sawatzki.
2983
F West syndrome caused by homozygous mutation
in an evolutionary conserved mitochondrial elongation
factor.
A. A. Alfaiz, N. Boutry-Kryza, D. Ville, N. Guex, J.
Bellescize, C. Rivier, A. Labalme, V. Portes, P. Edery, M. Till, I.
Xenarios, J. Herrmann, D. Sanlaville, G. Lesca, A. Reymond.
2984
W Gene discovery and high-throughput
resequencing of candidate genes in epileptic
encephalopathy.
H. Mefford, E. Sherr, I. Scheffer, A.
Poduri, D. Dlugos, Epi4K Investigators.