Page 122 - ASHG 2013 Program Guide

INVITED AND PLATFORM SESSIONS  
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INVITED AND PLATFORM SESSIONS
Friday, October 25
8:00
AM
–10:15
AM
Concurrent Platform (abstract-driven)
Session D (45-53)
(
SESSION 49, continued)
293
/9:45
Combined exome and whole-genome
sequencing identifies mutations in
ARMC4
as a
cause of primary ciliary dyskinesia.
A. Onoufriadis,
A. Shoemark, M. Munye, C. James, E. M. Rosser, C.
Bacchelli, S. L. Hart, M. Schmidts, J. E. Danke-Roelse,
G. Pals, C. Hogg, E. M. K. Chung, UK10K, H. M.
Mitchison.
294
/10:00
Identification of novel molecular defects
in chronic intestinal pseudo-obstruction.
G. Romeo,
E. Bonora, F. Bianco, L. Cordeddu, M. D’Amato, G.
Lindberg, M. Bamshad, D. Nickerson, Z. Mungan,
K. Cefle, S. Palanduz, S. Ozturk, T. Ozcelik, A.
Gedikbasi, V. Stanghellini, R. Cogliandro, E. Boschetti,
C. Graziano, M. Seri, R. De Giorgio, University of
Washington Center for Mendelian Genomics (UW
CMG).
Friday, October 25
8:00
AM
–10:15
AM
Concurrent Platform (abstract-driven)
Session D (45-53)
SESSION 50 – Neurodegenerative Disease and the
Aging Brain
Room 253, Level 2, Convention Center
Moderators
:
Jake McCauley, Univ of Miami; Christine
Van Broeckhoven, Univ. of Antwerp
295
/8:00
Rare highly penetrant variants of late
onset Alzheimers disease.
J. Rehker, R. Levy, R.
Nesbitt, Q. Yi, B. Martin, D. Nickerson, W. Raskind, J.
Shendure, Z. Brkanac.
296
/8:15
The identification of high-penetrance
variants in late-onset Alzheimer disease by whole
exome sequencing in extended families.
M. A. Kohli,
B. W. Kunkle, A. C. Naj, L.-S. Wang, K. L. Hamilton, R.
M. Carney, W. R. Perry, P. L. Whitehead, J. R. Gilbert,
E. R. Martin, G. W. Beecham, R. P. Mayeux, J. L.
Haines, L. A. Farrer, G. D. Schellenberg, S. Zuchner,
M. A. Pericak-Vance, Alzheimer’s Disease Genetics
Consortium (ADGC).
297
/8:30
Functional rare genetic variation in
Alzheimer’s disease: An exome-wide association
study in the CHARGE consortium.
J. Jakobsdottir,
S. J. van der Lee, J. C. Bis, V. Chouraki, A. V. Smith,
A. L. DeStefano, J. Brody, N. Amin, L. J. Launer,
C. A. Ibrahim-Verbaas, S. Choi, A. Beiser, R. Au, P.
A. Wolf, O. L. Lopez, M. A. Ikram, A. Hofman, A. G.
Uitterlinden, D. Levy, C. J. O’Donnell, M. L. Grove, E.
Boerwinkle, A. L. Fitzpatrick, B. Psaty, S. Seshadri, V.
Gudnason, C. M. van Duijn.
298
/8:45
Whole exome sequencing in early-onset
Alzheimer disease families identifies rare variants
in multiple Alzheimer-related genes and processes.
B. W. Kunkle, M. A. Kohli, B. N. Vardarajan, C. Reitz,
A. C. Naj, P. L. Whitehead, W. R. Perry, E. R. Martin,
G. W. Beecham, J. R. Gilbert, L. A. Farrer, J. L. Haines,
G. D. Schellenberg, R. P. Mayeux, M. A. Pericak-
Vance, Alzheimer’s Disease Genetics Consortium.
299
/9:00
Integrated whole transcriptome and DNA
methylation analysis identifies new gene network
in Alzheimer disease.
C. E. Humphries, M. A. Kohli,
P. W. Whitehead, G. Beecham, D. C. Mash, M. A.
Pericak-Vance, J. Gilbert.
300
/9:15
Novel mutations uncovered from exome
sequencing of Norwegian families with Parkinson’s
disease.
M. Lin, J. Aasly, D. Evans, C. Vilarino-
Guell, B. Shah, C. Szu Tu, H. Han, H. Sherman, C.
Thompson, M. Toft, K. Wirdefeldt, A. C. Belin, M. S.
Petersen, J. Trinh, V. Silva, F. Pishotta, M. Farrer,
GEO-PD Consortium.