Page 184 - ASHG 2013 Program Guide

ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
T Rare variant discovery of progressive
supranuclear palsy using whole exome sequencing.
C.-F. Lin, E. T. Geller, O. Valladares, Y.-H. Hwang, L.
Stutzbach, L. Cantwell, L.-S. Wang, G. D. Schellenberg.
F A recurrent microdeletion at 20p13 unmasks a
recessive mutation in
in a patient with severe
infantile epileptic encephalopathy.
I. M. Wentzensen,
A. Mctague, E. Meyer, C. Applegate, A. Ngoh, E. Kossoff,
D. Batista, T. Wang.
W A follow-up of whole exome sequencing in
multiplex families.
A. H. Beecham, J. L. McCauley, A.
Hadjixenofontos, P. L. Whitehead, W. F. Hulme, I. Konidari,
S. L. Hauser, J. R. Oksenberg, J. M. Vance, J. L. Haines,
M. A. Pericak-Vance.
T Exome sequencing for schizophrenia and
alcohol dependence in an Irish cohort using low-
cost library prep and target capture.
D. G. Brohawn,
T. Hendon, T. Bigdeli, E. Loken, D. Walsh, F. A. O’ Neill,
S. Bacanu, K. Kendler, B. T. Webb, B. Riley.
F Reduced mRNA expression and aberrant intron
DNA methylation of EGR2 in female schizophrenia
M. Cheng, Y. Chuang, S. Hsu, C. Chen.
W Association of rare variants with anorexia
nervosa by whole exome sequencing.
J. Connolly, D. Li,
H. Hakonarson.
T Detection of de novo mutations in schizophrenia
patients and their unaffected siblings.
S. de Jong,
N. Tran, E. Strengman, E.-J. ten Dam, R. S. Kahn, R. A.
F Genome-wide profiling of DNA-p otein
interactions and multiple histone methylations in the
cultured olfactory cells from schizophrenia.
Z. Deng,
M. Deng, O. V. Evgrafov, J. A. Knowles.
W Examining de novo mutation rates and
patterns from whole exome sequencing of sporadic
cases of schizophrenia from Taiwan.
D. Howrigan, B.
Neale, J. Moran, K. Chambert, S. Rose, N. Laird, H.-G.
Hwu, W.-J. Chen, C.-M. Liu, C.-C. Liu, J. Nemesh, E.
Bevilacqua, A. Hansen, S. V. Faraone, S. Glatt, M. Tsuang,
S. McCarroll.
T Deep re-sequencing of
identifies novel
rare variants associated with late-onset Alzheimer’s
S. Jin, T. Skorupa, B. Cooper, D. Carrell, J.
Norton, B. Benitez, C. Cruchaga, A. Goate.
F Mutations in the
gene in idiopathic
generalized epilepsy.
M. Kaur, P. Satishchandra, K.
Radhakrishnan, A. Kapoor, A. Anand.
W Trio-based pathway analysis of bipolar disorder.
N. Matoba, M. Kataoka, K. Fujii, Y. Suzuki, S. Sugano,
T. Kato.
T The not-so-silent effect of silence mutations
in autism spectrum disorders.
O. A. Moreno-Ramos,
M. C. Lattig, Liga Colombiana de Autismo (LICA).
T Identifying functional variation in schizophrenia
GWAS loci by pooled sequencing.
E. K. Loken, S.
Bacanu, D. Walsh, F. A. O’Neill, K. S. Kendler, B. P. Riley.
F Exome sequencing identifies novel ra e variants
in human T-cell leukemia virus type-1-associated
myelopathy/tropical spastic paraparesis.
S. Nozuma, E.
Matsuura, Y. Higuchi, J. Yuan, Y. Sakiyama, A. Hashiguchi,
Y. Okamoto, A. Yoshimura, T. Matsuzaki, J. Mitsui, H.
Ishiura, Y. Takahashi, J. Yoshimura, K. Doi, R. Kubota, S.
Morishita, S. Tsuji, S. Izumo, H. Takashima.
W Discovery and analysis of rare variants for
bipolar disorder by exome sequencing in multiplex
S. Ramdas, A. B. Ozel, J. Li.
T Gene-based analysis on major depressive
disorder using 12,000 case control samples sequenced
at one fold coverage.
Y. Li, J. Wang, S. Shi, Y. Chen,
J. Marchini, K. Kendler, R. Mott, J. Flint, on behalf of
CONVERGE Consortium.
F Exome sequencing identifies de novo missense
mutation in
in identical twins with autism
and seizures that results in slow potassium channel
S. Nelson, H. Lee, M. Lin, H. Kornblum,
D. Papazian.
W Amish revisited: A next-generation sequencing
study of bipolar disorder among the Plain people.
L. Hou, N. Akula, L. Kassem, D. Chen, Y. Yao, J. L. Haines,
M. Pericak-Vance, T. G. Schulze, F. J. McMahon.
T Genetic etiologies of speech sound disorders.
Peter, E. M. Wijsman, M. Matsushita, K. Oda, K. Chapman, U.
W. Center Mendelian Genomics, I. Stanaway, W. H. Raskind.
F Comprehensive annotation and analysis of
noncoding autism spectrum disorder risk loci by
targeted massively parallel sequencing.
A. J. Griswold,
D. Van Booven, J. M. Jaworski, S. Slifer, M. A. Schmidt,
W. Hulme, I. Konidari, P. L. Whitehead, J. A. Rantus, S.
M. Williams, R. Menon, M. L. Cucccaro, E. R. Martin, J. L.
Haines, J. R. Gilbert, J. P. Hussman, M. A. Pericak-Vance.
W Genome-wide frequencies of phase-specific
functional variant combinations in a large set of
families with bipolar disorder.
D. X. Quarless, K. Bhutani,
V. Bansal, A. Torkamani, N. Rens, S. A. Ament, H. Li, M.
E. Brunkow, R. Gelinas, J. Nurnberger, H. Edenberg, E.
Gershon, G. Glusman, J. C. Roach, J. R. Kelsoe, N. J.
Schork, Bipolar Genome Study Consortium.
T Investigation of the role of microRNAs in autism
by deep RNA-sequencing.
J. A. Lamb, F. Marriage, E.
Tsitsiou, P. Wang, L. Zeef.
F Somatic instability in sporadic amyotrophic
lateral sclerosis?
C. S. Leblond, J. B. Rivière, M. J. Strong,
K. Volkening, P. Hince, D. Spiegelman, A. Dionne-Laporte,
J. Robertson, L. Zinman, P. A. Dion, G. A. Rouleau.
W Towards the identification of new genes
implicated in recessive early-onset forms of
Parkinson’s disease.
S. Lesage, A. S. Cocquel, A. L.
Leutenegger, A. Honoré, C. Condroyer, A. Dürr, A. Brice.