Page 126 - ASHG 2012 Annual Meeting Program Guide

INVITED AND PLATFORM SESSIONS
115
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INVITED AND PLATFORM SESSIONS
Friday, November 9
4:30
PM
–6:45
PM
Concurrent Platform (abstract-driven)
Session E (59-67)
(
SESSION 66, continued)
402
/6:30
Regulatory regions are somatic mutation
cold spots in cancer genomes.
S. Sunyaev, P. Polak,
M. S. Lawrence, R. E. Thurman, N. Stoletzki, P.
Stojanov, E. Rynes, L. A. Garraway, S. Mirkin, G. Getz,
J. A. Stamatoyannopoulos.
Friday, November 9
4:30
PM
–6:45
PM
Concurrent Platform (abstract-driven)
Session E (59-67)
SESSION 67 – Developmental Insights into Human
Malformations
Room 123, Lower Level North, Moscone Center
Moderators
:
Lucy Osborne, Univ. of Toronto, Canada;
Rhona Schreck, Cedars-Sinai Med Ctr.
403
/4:30
TECTONIC3
mutations cause
orofaciodigital syndrome type IV (Mohr-Majewski).
S. Thomas, M. Legendre, S. Saunier, B. Bessières,
C. Alby, M. Bonnière, A. Toutain, L. Loeuillet, K.
Szymanska, F. Jossic, D. Gaillard, M. Tahar Yacoubi,
S. Mougou-Zerelli, A. David, M.-A. Barthez, Y. Ville, C.
Bole-Feysot, P. Nitschke, A. Munnich, C. A. Johnson,
F. Encha-Razavi, V. Cormier-Daire, C. Thauvin-Robinet,
M. Vekemans, T. Attié-Bitach.
404
/4:45
Abnormal development of NG2+PDGFR +
neural progenitor cells causes neonatal
hydrocephalus in a ciliopathy mouse model.
C . S.
Carter, T. W. Vogel, Q. Zhang, T. O. Moninger, D. R.
Thedens, K. M. Keppler-Noreuil, D. Y. Nishimura, C. C.
Searby, K. Bugge, V. C. Sheffield.
405
/5:00
Malformation of the brain cortex, as the
only expression of a ciliopathy, results from
mutation in human
Rotatin
.
G. M. S. Mancini, F. W.
Verheijen.
406
/5:15
Whole exome resequencing identifies
mutations in
LRRC6
as a novel single-gene cause
of primary cliary dyskinesia.
M. Chaki, H. Y. Gee, E.
A. Otto, K. Diaz, T. W. Hurd, J. Halbritter, S. J. Allen,
M. B. Zariwala, M. R. Knowles, F. Hildebrandt.
407
/5:30
Temporally and spatially resolved
catalogues of in vivo forebrain enhancers.
A. S.
Nord, L. Taher, J. Akiyama, M. J. Blow, A. Holt, R.
Hosseini, S. Phouanenavong, I. Plajzer-Frick, M.
Shoukry, V. Afzal, E. M. Rubin, I. Ovcharenko, J. L. R.
Rubenstein, L. A. Pennacchio, A. Visel.
408
/5:45
SRY regulation of the
RET
gene suggests
a potential role of the Y-chromosome gene in
sexual dimorphism in Hirschsprung disease.
Y. Li,
Z. L. Tabatabai, M.-M. Garcia-Barceló, P. K. H. Tam,
Y.-F. C. Lau.
409
/6:00
MAP3K1
mutations in 46 XY DGDs alter
crosstalk in downstream signal transduction
pathways to cause abnormal human gonadal
development.
J. Loke, A. Pearlman, H. Ostrer.
410
/6:15
Soft tissue aspects of the Williams-Beuren
syndrome facial phenotype can be attributed to
GTF2IRD1
.
S. J. Palmer, C. P. Canales, P. Carmona-
Mora, P. Kaur, P. W. Gunning, E. C. Hardeman.
411
/6:30
Notch gain of function inhibits
chondrocyte differentiation via Rbpj-dependent
suppression.
S. Chen, J. Tao, Y. Bae, M. Jiang, T.
Bertin, Y. Chen, T. Yang, B. Lee.