Page 112 - ASHG 2012 Annual Meeting Program Guide

INVITED AND PLATFORM SESSIONS
101
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INVITED AND PLATFORM SESSIONS
Friday, November 9
8:00
AM
–10:15
AM
Concurrent Platform (abstract-driven)
Session D (47-55)
SESSION 47 – Structural and Regulatory Genomic
Variation
Hall D, Lower Level North, Moscone Center
Moderators
:
Mike Lovett, Washington Univ. in St.
Louis; Greg Elgar, MRC NIMR, London, U.K.
250
/8:00
Germline mosaicism does not explain the
maternal age effect on trisomy.
R. Rowsey,
B. Murdoch, P. Hunt, C. Dickerson, T. Woodruff,
T. Hassold.
251
/8:15
Female meiosis II errors prevalence and
their impact on human embryo viability.
A. Kuliev,
Z. Zlatopolsky, I. Kirillova, J. Cieslak-Janzen.
252
/8:30
A population isolate reveals enriched
recessive deleterious variants underlying
neurodevelopmental traits.
O. Pietiläinen, J.
Suvisaari, W. Hennah, V. Leppä, T. Paunio, M.
Torniainen, S. Ripatti, S. Ala-Mello, K. Rehnström, A.
Tuulio-Henriksson, T. Varilo, J. Tallila, K. Kristiansson,
M. Isohanni, J. Kaprio, J. Eriksson, M. Jarvelin, R.
Durbin, J. Lonnqvist, M. Hurles, H. Stefansson, N.
Freimer, M. Daly, A. Palotie.
253
/8:45
The role of trans-acting factors on
recombination in oocytes with nondisjoined
chromosomes 21.
C. D. Middlebrooks, N.
Mukhopadhyay, S. W. Tinker, E. G. Allen, L. J. H. Bean,
F. Begum, R. Chowdhury, V. Cheung, E. Feingold,
S. L. Sherman.
254
/9:00
Large-scale function-based enhancer
discovery.
D. E. Dickel, Y. Zhu, A. S. Nord, J. A.
Akiyama, A. Visel, L. A. Pennacchio.
255
/9:15
A single enhancer on human chromosome
11
directly controls >1,000 promoters and distal
regulatory elements genome-wide.
J . A.
Stamatoyannopoulos, H. Wang, G. J. Cost, H. Quh, Y.
Santago, J. Belton, R. McCord, S. Orlando, S. Neph,
L. Zhang, T. Canfield, E. Giste, R. Sandstrom, R. S.
Hansen, R. E. Thurman, P. D. Gregory, J. Dekker,
F. D. Urnov.
256
/9:30
Identification of trait- and disease-relevant
genetic polymorphisms in microRNA target sites.
S. Busche, B. Ge, T. Kwan, K. Wong, S.-H. Chen, M.
Georges, D. Ginzinger, T. Pastinen.
257
/9:45
Mapping functional p53 response
elements and their variants in human genome.
X. Wang, M. R. Campbell, V. G. Cheung, D. A. Bell.
258
/10:00
A SNP associated with skin cancer and
pigmentation disrupts a melanocyte enhancer in an
intron of
IRF4
.
D. U. Gorkin, S. K. Loftus, D. Lee,
M. A. Beer, W. J. Pavan, A. S. McCallion.
Friday, November 9
8:00
AM
–10:15
AM
Concurrent Platform (abstract-driven)
Session D (47-55)
SESSION 48 – Neuropsychiatric Disorders
Gateway Ballroom 103, Lower Level South, Moscone
Center
Moderators
:
Dimitrios Avramopoulos, Johns Hopkins
Univ.; Tatiana Foroud, Indiana Univ. Sch. of Med.
259
/8:00
Genetic and functional abnormalities of
the melatonin biosynthesis pathway in patients
with bipolar disorder.
S. Jamain, B. Etain, A.
Dumaine, F. Bellivier, C. Pagan, L. Francelle, H.
Goubran-Botros, S. Moreno, J. Deshommes, K.
Moustafa, K. Le Dudal, F. Mathieu, C. Henry, J. P.
Kahn, J. M. Launay, T. W. Mühleisen, S. Cichon, T.
Bourgeron, M. Leboyer.
260
/8:15
Massively-parallel sequencing of the brain
transcriptome reveals differential expression of
novel genes in bipolar disorder.
N. Akula, J. Barb, X.
Jiang, J. Wendland, K. Choi, S. Sen, B. K. Lipska, J. E.
Kleinman, H. C. Bravo, D. T. Chen, P. J. Munson, F. J.
McMahon.
261
/8:30
Rare and common gain-of-function
alleles of the serotonin transporter gene,
SLC6A4
,
associated with Tourette disorder.
P. R. Moya, J. R.
Wendland, A. M. Andrews, L. M. Rubenstein, K. R.
Timpano, G. A. Heiman, J. A. Tischfield, R. A. King,
S. Rammamoorthy, F. J. McMahon, D. L. Murphy.
262
/8:45
GLRB
is the third major gene-of-effect in
hyperekplexia or startle disease.
S. K. Chung, A.
Bode, C. A. Hunt, A. Derrick, T. D. Cushion, S. Wood,
C. Drew, O. W. Howells, R. H. Thomas, J. G. Mullins,
J. Lynch, M. I. Rees.
263
/9:00
Functional analysis of rare chimeric genes
in schizophrenia.
C. Rippey, C. Remmers, M. Cahill,
A. Nord, T. Walsh, M. Lee, M. Gasperini, P. Penzes, J.
McClellan, M.-C. King.
264
/9:15
Excess homozygosity in the major
histocompatibility complex in schizophrenia.
S. Mukherjee, S. Guha, M. Ikeda, N. Iwata,
A. K. Malhotra, I. Pe’er, A. Darvasi, T. Lencz.
265
/9:30
Significant risk of new mutations for
Huntington disease: CAG-size specific risk
estimates of intermediate allele repeat instability.
A. Semaka, C. Kay, C. Doty, J. A. Collins,
M. R. Hayden.
266
/9:45
Mutations in
AKT3
lead to
hemimegalencephaly.
A. Poduri, G. D. Evrony, X. Cai,
P. C. Elhosary, R. Beroukhim, M. K. Lehtinen, L. B.
Hills, E. L. Heinzen, A. Hill, R. S. Hill, B. J. Barry,
B. F. D. Bourgeois, J. J. Riviello, A. J. Barkovich,
P. M. Black, J. Madsen, K. L. Ligon, C. A. Walsh.
267
/10:00
De novo somatic mutations in
components of the PI3K-AKT3-mTOR pathway
cause hemimegalencephaly.
J. Lee, M. Huynh,
G. Mathern, J. Gleeson.