Page 223 - ASHG 2012 Annual Meeting Program Guide

212
POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
2454
W Cleavage and polyadenylation specificity factor
1
regulates alternative splicing of interleukin 7 receptor
exon 6.
S. G. Gregory, I. Evsyukova, S. Bradrick, M. A.
Garcia-Blanco.
2455
T Functional analysis of
ASNS
variant identified in
progressive microcephaly and brain atrophy patients.
Y. Hitomi, E. K. Ruzzo, D. L. Silver, Y. Anikster, D. B.
Goldstein.
2456
F Impaired PPAR function underlies
mitochondrial demise and neurodegeneration
in Huntington’s disease: Mechanistic basis and
therapeutic implications.
A. S. Dickey, V. V. Pineda, A.
Buttgereit, M. M. Torres, T. Tsunemi, A. R. La Spada.
2457
W
NHEJ1
deficiency causes abnormal
development of the cerebral cortex.
B. El Waly, E.
Buhler, M. R. Haddad, F. Watrin, L. Villard.
2458
T
KCTD13
is a major driver of mirrored
neuroanatomical phenotypes associated with the
16
p11.2 copy number variant.
C. Golzio, J. Willer, M.
E. Talkowski, E. C. Oh, Y. Taniguchi, S. Jacquemont, A.
Reymond, M. Sun, A. Sawa, J. S. Gusella, A. Kamiya, J. S.
Beckmann, N. Katsanis.
2459
F miR-137 expression in schizophrenia and bipolar
disorder brains.
I. Guella, A. Sequeira, B. Rollins, F. Torri,
M. P. Vawter, F. Macciardi.
2460
W Common gene co-expression network analysis
in schizophrenia and bipolar disorder.
S. Hong, X. Chen,
L. Jin, M. Xiong.
2461
T Delusion-associated SNPs in
NRG3
show
regulatory potential, dysregulate
NRG3
splicing and
differentially bind to nuclear proteins.
M. Zeledón,
M. Taub, N. Eckart, R. Wang, M. Szymanski, P. Chen,
A. Pulver, J. A. McGrath, P. Wolyniec, D. Avramopoulos,
A. Sawa, D. Valle.
2462
F
USF1
regulates sleep and circadian traits in
humans.
H. M. Ollila, K. M. Rytkönen, K. Silander,
M. Perola, V. Salomaa, M. Härmä, S. Puttonen,
T. Porkka-Heiskanen, T. Paunio.
2463
W Sodium channel mutations and epilepsy.
J. E. O’Brien, M. H. Meisler.
2464
T Phosphorylation and regulation of FMRP.
M. Santoro, S. Warren.
2465
F The
cis
-
regulatory effect of an Alzheimer’s
disease-associated polymorphic poly-T locus on
expression of
TOMM40
and
APOE
genes.
O. Chiba-
Falek, C. Linnertz, W. Gottschalk, D. Crenshaw, M. Lutz,
J. Allen, S. Saith, M. Mihovilovic, L. Anderson, K. Welsh-
Bohmer, A. Roses.
2466
W Apolipoprotein E 4 as a factor in the evaluation
of the genetic risk of Alzheimer’s dementia in Filipinos.
M. Daroy, C. Casingal, C. Mapua, D. Florendo, R. Matias,
J. Dominguez, St. Luke’s Dementia Study Group.
2442
W Identification of a dosage-sensitive brain
development gene within the critical region of 1q
deletion syndrome.
E. A. Erickson, W. A. Gahl, C.
Boerkoel.
2443
T Results of genome-wide analyses on
neurodevelopmental phenotypes at four-year follow-up
following cardiac surgery in infancy.
D. S. K. Kim, I. B.
S. Stanaway, R. R. Rajagopalan, G. W. Wernovsky, J. B.
Bernbaum, C. B. S. Solot, N. B. Burnham, E. Z. Zackai,
R. R. C. Clancy, S. C. N. Nicolson, M. G. Gerdes, D. A.
Nickerson, H. H. Hakonarson, J. W. G. Gaynor, G. P. Jarvik.
2444
F BrainSpan Atlas of the developing human brain.
S. Sunkin, A. Bernard, T. Chen, C. Dang, S. Ding, A.
Ebbert, O. Evgrafov, B. Fischl, M. Gerstein, D. Geschwind,
A. Harmanci, J. Hohmann, S. Horvath, T. Hyde, A. Jones,
Y. Kawasawa, R. Kitchen, J. Kleinman, P. Levitt, M. Li,
S. Mane, N. Parikshak, A. Sboner, E. Shen, K. Smith, D.
Weinberger, M. Hawrylycz, J. Knowles, N. Sestan, E. Lein.
2445
W Knockdown of putative human autism genes,
SHANK3
and
SYNGAP1
,
produces common behavioral
phenotypes in zebrafish.
J. E. Dallman, R. Kozol, Q. Yan,
H. N. Cukier, V. Mayo, A. J. Griswold, P. L. Whitehead, J.
L. Haines, J. R. Gilbert, M. L. Cuccaro, E. R. Martin, M. A.
Pericak-Vance.
2446
T Short tandem repeat: A versatile marker in
diagnosis of genetic disorders.
S. Muthuswamy, A.
Kumar, S. Agarwal.
2447
F Genomic rearrangements in idiopathic cerebral
palsy.
R. Segel, H. Ben-Pazi, S. Zeligson, A. Fattal-
Valevski, A. Aran, V. Gross, N. Shneebaum, D. Shmueli, D.
Lev, L. Blumkin, S. Perlberg, E. Levy-Lahad.
2448
W Gain of function Na
v
1.7
mutations in patients
with small fiber neuropathy.
M. M. Gerrits, C. G. Faber,
J. G. J. Hoeijmakers, D. M. L. Merckx, H. J. M. Smeets, S.
D. Dib-Haij, S. G. Waxman, I. S. J. Merkies.
2449
T A new screening test for Fragile X syndrome:
Quantitative measurement of FMRP in dried blood
spots.
W. T. Brown, T. Adayev, R. Kascsak, R. Kascsak, C.
Dobkin, S. Nolin, G. LaFauci.
2450
F Disease specific pathway analysis in multiple
sclerosis.
T. Avsar, M. Durasi, S. Saip, O. U. Sezerman,
A. Siva, E. Tahir Turanli.
2451
W Diagnosing complex neurological disease
by next-generation sequencing.
K. Haugarvoll, S.
Johansson, C. Tzoulis, B. I. Haukanes, C. Bredrup, H.
Boman, P. M. Knappskog, L. A. Bindoff.
2452
T Elevations of pro-inflammatory cytokines/
chemokines in patients with Aicardi-Goutières
syndrome.
J. L. Schmidt, A. Takanohashi, M. Prust, K. F.
Gold, J. Wang, H. Gordish-Dressman, G. Rice, H. Gornall,
M. Bloom, Y. J. Crow, P. Lebon, K. Nagaraju, A. Vanderver.
2453
F Strategy for genotyping triplet repeats unstable
sequences.
S. Lindo_Samanamud, O. Ortega, M.
Cornejo-Olivas, V. Marca, P. Mazzetti.