Page 98 - ASHG 2012 Annual Meeting Program Guide

INVITED AND PLATFORM SESSIONS
87
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INVITED AND PLATFORM SESSIONS
Thursday, November 8
10:30
AM
12:45
PM
Concurrent Platform (abstract-driven)
Session B (29-37)
(
SESSION 30, continued)
103
/12:00
MBD5
dosage affects multiple
neurodevelopmental pathways in common with
other genetic syndromes.
S. V. Mullegama, J. A.
Rosenfeld, C. Orellana, B. W. M. van Bon, E. A.
Repnikova, L. Brick, L. Dupuis, D. J. Stavropoulos, D.
L. Thrush, J. G. Foster, K. Manickam, A. Lin, J. C.
Hodge, M. E. Talkowski, J. F. Gusella, S. Schwartz, S.
Aradhya, R. E. Pyatt, B. B. A. de Vries, R. Mendoza-
Londono, L. G. Shaffer, S. H. Elsea.
104
/12:15
Exome sequencing in X-linked
intellectual disability family assess the role of
the
KIAA2022
gene in the etiology of intellectual
disability.
M. Rio, S. Mouton, AC. Mazery, C. Bole-
Feysot, P. Nitschke, N. Bahi-Buisson, A. Munnich,
L. Colleaux.
105
/12:30
Biallelic mutations of a ubiquitin-ligase-
encoding gene cause an Ohdo-like intellectual
disability syndrome.
G. Borck, B. Dallapiccola, R.
Ramirez-Solis, A. Segref, H. Thiele, A. Edwards, M. J.
Arends, X. Miro, J. K. White, J. Desir, M. Abramowicz,
M. L. Dentici, K. Hofmann, A. Har-Zahav, E. Ryder, N.
A. Karp, N. J. Ingham, G. Nuernberg, S. Abdelhak, M.
Pasmanik-Chor, O. Konen, R. I. Kelley, M. Shohat, P.
Nuernberg, J. Flint, K. P. Steel, T. Hoppe, C. Kubisch,
D. J. Adams, L. Basel-Vanagaite.
Thursday, November 8
10:30
AM
12:45
PM
Concurrent Platform (abstract-driven)
Session B (29-37)
SESSION 31 – GWAS from Head to Toe
Room 135, Lower Level North, Moscone Center
Moderators
:
Erik Ingelsson, Karolinska Inst., Sweden;
Nora Franceschini, Univ. of North Carolina at Chapel
Hill
106
/10:30
Androgenetic alopecia: Identification
of four new genetic risk loci and evidence for the
contribution of WNT-signaling to its etiology.
S. Heilmann, A. K. Kiefer, N. Kluck, D. Drichel, A. M.
Hillmer, C. Herold, J. Y. Tung, N. Eriksson, S. Redler,
R. C. Betz, R. Li, H. Stefansson, D. R. Nyholt, K. Song,
S. H. Vermeulen, S. Kanoni, G. Dedoussis, N. G.
Martin, L. A. Kiemeney, V. Mooser, K. Stefansson, J. B.
Richards, T. Becker, F. F. Brockschmidt, D. Hinds,
M. M. Nöthen.
107
/10:45
A polymorphism in human estrogen-
related receptor beta is associated with early
indications of hearing loss from acoustic overload
in young adult musicians.
V. C. Henrich, S. L.
Phillips, S. J. Richter, S. Teglas, R. Morehouse.
108
/11:00
Dissection of polygenic variation for
human height into individual variants, specific loci
and biological pathways from a GWAS meta-
analysis of 250,000 individuals.
T. Esko, A. R. Wood,
S. Vedantam, J. Yang, S. Gustaffsson, S. I. Berndt, J.
Karjalainen, H. M. Kang, A. E. Locke, A. Scherag, D.
C. Croteau-Chonka, F. Day, R. Magi, T. Ferreira,
J. Randall, T. W. Winkler, T. Fall, Z. Kutalik, T.
Workalemahu, G. Abecasis, M. E. Goddard, L.
Franke, R. J. F. Loos, M. N. Weedon, E. Ingelsson, P.
M. Visscher, J. N. Hirschhorn, T. M. Frayling, GIANT
Consortium.
109
/11:15
Genome-wide association studies meta-
analysis for fracture risk points to loci related to
hormonal and neurological pathways: The GEFOS
Consortium.
L. Oei, H. F. Zheng, E. E. Ntzani, C. M.
Nielson, U. Styrkarsdottir, P. M. Ridker, K. K. Tsilidis,
K. Estrada, A. Enneman, A. Vernon-Smith, R. D.
Jackson, S. Trompet, T. Lehtimäki, S. Kaptoge, T. B.
Harris, J. Eriksson, N. Amin, A. Metspalu, P. C. Sham,
E. Evangelou, J. P. A. Ioannidis, G. Thorleifsson, A. G.
Uitterlinden, S. A. Cummings, T. Spector, D. P. Kiel, D.
Chasman, E. Orwoll, J. B. Richards, F. Rivadeneira,
GEFOS Consortium.
110
/11:30
Genetic landscape of the red blood cell.
J. C. Chambers, P. van der Harst, W. Zhang, I. Mateo
Leach, J. Sehmi, N. Verweij, D. S. Paul, A. Rendon, U.
Elling, H. Allayee, A. Radhakrishnan, J. S. Beckmann,
G. V. Dedoussis, P. Deloukas, A. A. Hicks, S. Sanna,
M. Uda, J. Penninger, C. Gieger, J. S. Kooner, W.
Ouwehand, N. Soranzo, HaemGen RBC Consortium.