Page 117 - ASHG 2012 Annual Meeting Program Guide

106
INVITED AND PLATFORM SESSIONS
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Friday, November 9
8:00
AM
–10:15
AM
Concurrent Platform (abstract-driven)
Session D (47-55)
(
SESSION 54, continued)
321
/10:00
Web-based case conferencing: An
effective source of cancer genetics training for
community-based clinicians.
K. Blazer, J. Weitzel.
Friday, November 9
8:00
AM
–10:15
AM
Concurrent Platform (abstract-driven)
Session D (47-55)
SESSION 55 – Mitochondrial Disorders and Ciliopathies
Room 123, Lower Level North, Moscone Center
Moderators
:
Catherine E. Keegan, Univ. of Michigan;
Mitzi Murray, Univ. of Washington
322
/8:00
Combination of modern and traditional
techniques identify
MCKD1
causal frameshift
variants within the
MUC1
VNTR.
A. Kirby, A. Gnirke,
D. Jaffe, V. Bareová, N. Pochet, B. Blumenstiel, C. Ye,
D. Aird, C. Stevens, J. Robinson, M. Calibi, I. Gat-Viks,
E. Kelliher, R. Daza, M. DeFelice, H. Hlková, J. Sovová,
C. Antignac, M. Guttman, R. Handsaker, K. Lindblad-
Toh, S. Gabriel, P. S. Hart, A. Regev, C. Nusbaum,
S. Kmoch, A. Bleyer, E. Lander, M. Daly.
323
/8:15
ARL13B
,
INPP5E
,
PDE6D
and
CEP164
form a functional network involved in Joubert
syndrome and nephronophthisis.
S. Seo, M. C.
Humbert, K. Weihbrecht, C. C. Searby, Y. Li, R. M.
Pope, V. C. Sheffield.
324
/8:30
Mainzer-Saldino syndrome is a ciliopathy
caused by mutations in the
IFT140
gene.
I. Perrault,
S. Saunier, S. Hanein, E. Filhol, A. Bizet, F. Collins,
M. Salih, S. Gerber, N. Delphin, E. Silva, V. Baudouin,
M. Oud, N. Shannon, M. Le Merrer, O. Roche, C.
Pietrement, C. Bole-Feysot, P. Nitschke, M. Zahrate, P.
Beales, H. Arts, A. Munnich, J. Kaplan, C. Antignac, V.
Cormier-Daire, J.-M. Rozet.
325
/8:45
Mutations in
ALDH1B1
,
which encodes a
mitochondrial protein belonging to the aldehyde
dehydrogenase family, result in hepatic failure and
mitochondrial respiratory chain deficiency.
S. Salhi,
V. Serre, M. Beinat, P. Nitschke, O. Bernard, A. Slama,
A. Munnich, A. Rotig.
326
/9:00
Targeted exome sequencing of 102
patients with clinical evidence of mitochondrial
disease.
D. S. Lieber, S. E. Calvo, K. Shanahan,
N. G. Slate, S. Liu, S. G. Hershman, N. B. Gold,
B. A. Chapman, M. Borowsky, D. R. Thorburn,
G. T. Berry, J. D. Schmahmann, D. M. Mueller,
K. B. Sims, V. K. Mootha.
327
/9:15
Genetic diagnosis of mitochondrial
disorders by whole-exome sequencing.
C. J. Carroll,
V. Brilhante, P. Isohanni, R. Pöyhönen, L. Euro,
U. Richter, T. Lahtinen, A. Götz, H. Almusa, P. Ellonen,
H. Pihko, B. Battersby, H. Tyynismaa, A. Suomalainen.
328
/9:30
Constitutive activation of
STIM1
causes
tubular aggregate myopathy.
J. Laporte, F.
Chevessier, A. Maues de Paula, C. Koch, S. Attarian,
C. Feger, D. Hantaï, P. Laforêt, K. Ghorab, J. M. Vallat,
M. Fardeau, D. Figarella-Branger, J. Pouget, M. Koch,
C. Ebel, N. Levy, B. Eymard, M. Bartoli, J. Bohm.