Page 123 - ASHG 2012 Annual Meeting Program Guide

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INVITED AND PLATFORM SESSIONS
Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.
Friday, November 9
4:30
PM
–6:45
PM
Concurrent Platform (abstract-driven)
Session E (59-67)
SESSION 62 – Exome Sequencing Uncovers Etiology of
Mendelian Disease
Room 134, Lower Level North, Moscone Center
Moderators
:
Cheryl Maslen, Oregon Hlth. & Sci. Univ.;
Jun Z. Li, Univ of Michigan
358
/4:30
Loss of function mutations in known
human disease genes in 572 exomes.
J. Johnston,
K. Lewis, D. Ng, S. Gonsalves, J. Mullikin, L. G.
Biesecker.
359
/4:45
The problem of multiple plausible
molecular diagnoses in next-generation
sequencing data: The NIH Undiagnosed Diseases
Program experience.
D. Adams, C. Boerkoel,
K. Fuentes- Fajardo, P. Cherukuri, M. Sincan, C. Toro,
C. Tifft, W. Gahl, T. Markello.
360
/5:00
Exome sequencing to identify the cause of
Mendelian diseases.
J. Lupski, C. Gonzaga-
Jauregui, W. Wiszniewski, D. Pehlivan, E. Karaca,
A. Stray- Pedersen, S. Jhangiani, J. Reid, D. Muzny,
R. A. Gibbs, Baylor-Hopkins Center for Mendelian
Genomics.
361
/5:15
Domain-specific mutations in
CDKN1C
cause two disorders with opposing phenotypes:
The undergrowth disorder IMAGe syndrome or
the overgrowth disorder Beckwith-Wiedemann
syndrome.
V. Arboleda, H. Lee, R. Parnaik, A.
Fleming, A. Banerjee, B. Ferraz-de-Souza, E. Delot,
I. A. Rodriguez-Fernandez, D. Braslavsky, I. Bergadá,
E. C. Dell’Angelica, S. F. Nelson, J. A. Martinez-
Agosto, J. C. Achermann, E. Vilain.
362
/5:30
SCID newborn screening and exome
sequencing identifies ataxia telangiectasia and low
T cells early in life.
J. M. Mallott, A. Kwan, J. Church,
D. Gonzalez, S. Rana, U. Sunderam, R. Srinivasan,
S. E. Brenner, L. F. Tang, F. Lorey, J. Puck.
363
/5:45
Identification of a new melanocyte
differentiation gene underlying human autosomal
recessive albinism.
K. Grønskov, C. M. Dooley,
E. Østergaard, R. N. Kelsh, L. Hansen, M. P. Levesque,
K. Vilhelmsen, D. Stemple, T. Rosenberg.
364
/6:00
Exome sequencing results in 230 patients
with severe developmental disorders in the DDD
project.
M. van Kogelenberg, K. Morley, T. Fitzgerald,
S. Gerety, A. Tivey, S. Al-Turki, S. Clayton, C. Wright, J.
Barrett, H. Firth, D. FitzPatrick, N. Carter, M. Hurles on
behalf of DDD Project.
365
/6:15
Genetic etiology of isolated congenital
asplenia.
A. Bolze, L. Abel, A. Puel, N. Trede,
L. Selleri, J.-L. Casanova.
366
/6:30
Whole genome sequencing in two
brothers with heterotaxy reveals
BCL9L
as a
novel gene associated with autosomal recessive
heterotaxy (HTX6).
C. J. Saunders, N. A. Miller,
S. E. Soden, E. Farrow, D. L. Dinwiddie, N. P. Safina,
S. Humphray, P. Saffrey, Z. Kingsbury, J. C. Weir,
J. Betley, R. J. Grocock, J. E. Petrikin, K. P. Hall,
S. F. Kingsmore.