Page 238 - ASHG 2012 Annual Meeting Program Guide

W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
T Genetic studies to gain insight into the function
of the MeCP2 domains in vivo.
L. Heckman, H. Zoghbi.
F Combination of linkage analysis and exome
sequencing identifies a novel form of autosomal
recessive syndromic intellectual deficiency linked to DNA
damage response defect.
M. Langouet, A. Saadi, C. Bole-
Feysot, P. Nitschke, A. Munnich, M. Chaouch, L. Colleaux.
W Neuronal cells generated through differentiation
of stem cells isolated from patient’s skin recapitulate
the main features of Niemann Pick C disease.
Dardis, N. Bergamin, D. Cesselli, S. Zampieri, B. Bembi, A.
Beltrami, C. A. Beltrami.
T Severely impaired respiratory chain causes
multisystem apoptosis-driven developmental defects, a
new mitochondrial phenotype in vertebrates.
A. Indrieri,
V. van Rahden, V. Tiranti, I. Conte, J. Quartararo, M. Morleo,
D. Iaconis, R. Tammaro, G. Chesi, M. Cermola, R. Tatè, I.
Maystadt, S. Demuth, A. Zvulunov, I. D’Amato, P. Goffrini, I.
Ferrero, P. Bovolenta, K. Kutsche, M. Zeviani, B. Franco.
F Whole exome sequencing reveals novel and
known genes mutations in a cohort of centronuclear
myopathy patients.
P. Agrawal, O. Ceyhan, K. Schmitz, E.
Dechene, M. Viola, K. Markianos, A. Beggs.
W Mutations in the human isoprenoid synthase
domain containing gene are a common cause of
congenital and limb girdle muscular dystrophies.
Cirak, A. R. Foley, R. Herrmann, T. Willer, M. Yau, S. Torelli,
P. Vondracek, R. Helen, C. Longman, R. Korinthenberg, G.
Marruso, P. Nürnberg, UK10K Consortium, V. Plagnol, M.
Hurles, C. Sewry, K. P. Campbell, T. Voit, F. Muntoni.
T Prevalence of
mutations among girls
presenting significant clinical overlap between Rett
and Angelman syndromes.
T. M. R. de Assis, G. A.
Molfetta, C. A. Ferreira, C. H. P. Grangeiro, W. A. Silva, Jr.
F Identification of six novel
mutations in
neurofibromatosis type 1 patients from the Azorean
island of São Miguel (Portugal).
L. Mota-Vieira, B. Campos,
R. Cabral, A. L. Rodrigues, A. Raposo, A. Carvalho.
W A pan-European study of the pathological
C9orf72 hexanucleotide (G4C2) expansion
associated with frontotemporal lobar degeneration
and amyotrophic lateral sclerosis.
J. van der Zee, I.
Gijselinck, L. Dillen, T. Van Langenhove, M. Cruts, C.
Van Broeckhoven, Belgian Neurology Consortium and
European Early-Onset Dementia Consortium.
T Identification of novel ALS genes using linkage
analysis and next-gen sequencing.
K. L. Williams, J.
A. Solski, J. C. Durnall, A. D. Thoeng, S. Warraich, G.
Rouleau, G. A. Nicholson, I. P. Blair.
F The distributions of two SOD1 missense
mutations in the pet dog population and their
association with canine degenerative myelopathy, a
model for amyotrophic lateral sclerosis.
R. Zeng, J. R.
Coates, L. Hansen, G. C. Johnson, F. A. Wininger, M. L.
Katz, G. S. Johnson.
F The molecular role of GTF2IRD1, a protein
implicated in the neurodevelopmental features of
Williams-Beuren syndrome.
P. Carmona-Mora, J.
Widagdo, K. M. Taylor, R. Tsz-Wai Pang, P. W. Gunning, E.
C. Hardeman, S. J. Palmer.
W Contribution of
mutations to hypomyelinating leucodystrophy.
Daoud, M. Tétreault, K. Choquet, W. Gibson, M. Synofzik,
B. Brais, A. Vanderver, G. Bernard.
T Identification of disease causing mutations in
the serine/threonine kinase
gene in two siblings
with primary microcephaly, neuropathy and spinal
muscular atrophy.
C. Gonzaga-Jauregui, W. Wiszniewski,
J. Reid, D. Muzny, R. A. Gibbs, J. R. Lupski, Baylor-
Hopkins Center for Mendelian Genomics.
F Molecular screening of patients with CMT2
G. Bergamin, C. Briani, E. Pegoraro, A.
Martinuzzi, E. Battiston, F. Boaretto, M. L. Mostacciuolo.
W Novel autosomal recessive syndrome
characterized by manganese deficiency, cerebellar
atrophy, skeletal dysplasia, and cognitive impairment
caused by mutation in
C. L. Beaulieu, M.
Galvez-Peralta, D. Redl, L. Huang, E. G. Puffenberger,
S. C. Hampson, A. E. Chudley, J. N. Scott, R. A. Hegele,
D. R. McLeod, A. E. MacKenzie, D. E. Bulman, J. S.
Parboosingh, D. W. Nebert, A. .M. Innes, K. M. Boycott,
FORGE Canada Consortium.
T GNAL is a new causative gene for primary
T. Fuchs, R. Saunders-Pullman, I. Masuho, M. San
Luciano, D. Raymond, S. White, E. Ainehsazan, N. Sharma,
M. E. Ehrlich, K. Martemyanov, S. B. Bressman, L. J. Ozelius.
F Analysis of Aicardi syndrome genome using
array CGH and exome sequencing.
W. Liu, M.
Bainbridge, A. Balasa, X. Wang, D. Murdock, R. Gibbs, I.
B. Van den Veyver.
W Molecular analysis for Gaucher, Tay-Sach’s and
Sandhoff disease in Indian patients.
J. J. Sheth, M. A.
Mistri, C. M. Ankleshwaria, P. Tamhankar, A. Bavdekar, CA.
Datar, M. Kamate, S. Gupta, F. J. Sheth.
T Progress and challenges in elucidating the
molecular genetic basis of cluster headache.
Southgate, S. Scollen, W. He, A. Moss, M. A. Simpson,
B. Zhang, L. Xi, T. Schlitt, M. Weale, C. L. Hyde, J. C.
Stephens, C. Sjöstrand, M. B. Russell, M. Leone, S. L.
John, R. C. Trembath.
F Japanese Chin dogs with GM2 gangliosidosis are
homozygous for a
missense mutation and are a
potential large animal model for Tay-Sachs disease.
Gilliam, A. C. Freeman, D. N. Sanders, R. Zeng, D. A. Wenger,
G. S. Johnson, M. L. Katz, M. Vandenberg, S. Holmes, M.
Kent, R. Rech, E. Howerth, S. R. Platt, D. P. O’Brien.
W Identification of novel X-linked intellectual
disability genes by human X chromosome exome
T. Wang, T. Niranjan, C. Skinner, M. May, L.
Holloway, C. Schwartz.