Page 121 - ASHG 2013 Program Guide

108
INVITED AND PLATFORM SESSIONS
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Friday, October 25
8:00
AM
–10:15
AM
Concurrent Platform (abstract-driven)
Session D (45-53)
SESSION 48 – Fine-Mapping and Function of
Candidate Loci
Room 210, Level 2, Convention Center
Moderators
:
Paivi Pajukanta, UCLA; Soumya
Raychaudhuri, Brigham and Women’s Hosp.
277
/8:00
Fine mapping of the MHC in
.
60,000
samples by the International IBD Genetics
Consortium: Identification of multiple predisposing
and protective variants that are mostly distinct
between Crohn’s disease and ulcerative colitis.
P.
Goyette, on behalf of International Inflammatory Bowel
Disease Genetics Consortium (IIBDGC).
278
/8:15
Mapping the shared and distinct
HLA alleles for seropositive and seronegative
rheumatoid arthritis.
B. Han, S. Eyre, D. Diogo,
J. Bowes, Y. Okada, L. Padyukov, R. Plenge, L.
Klareskog, J. Worthington, P. K. Gregersen, P. I. W. de
Bakker, S. Raychaudhuri.
279
/8:30
Common genetic variants of autoimmunity
confer susceptibility to candididemia.
V. Magadi
Gopalaiah, S. Cheng, M. D. Johnson, S. S. Smeekens,
L. A. B. Joosten, J. R. Perfect, B. Kullberg, C.
Wijmenga, M. G. Netea.
280
/8:45
PXK and Lupus: Defining novel
immunobiology for an SLE risk gene.
S. E. Vaughn,
I. T. W. Harley, C. Foley, L. C. Kottyan, K. M. Kaufman,
J. B. Harley, SLEGEN.
281
/9:00
Allelic heterogeneity of and interactions
between polymorphic RET enhancers affecting
Hirschsprung disease risk.
S. Chatterjee, A. Kapoor,
A. Chakravarti.
282
/9:15
Identification of human craniofacial, thyroid
and heart enhancers at the FOXE1 locus.
A. C. Lidral,
S. A. Bullard, R. A. Cornell, G. Bonde, A. Visel, L. M.
Moreno, J. Machida, B. Amendt, M. L. Marazita.
283
/9:30
Irf6 homeostasis is required for neurulation
through a direct interaction with Tfap2a.
Y. A.
Kousa, H. Zhu, A. Kinoshita, W. D. Fakhouri, M.
Dunnwald, R. R. Roushangar, T. J. Williams, B. A.
Amendt, Y. Chai, R. H. Finnell, B. C. Schutte.
284
/9:45
Deletion of a distant-acting enhancer on
Chr16p13.3 causes recessive intractable diarrhea
of infancy syndrome (IDIS).
D. Oz-Levi, I. Bar-
Joseph, T. Olender, E. K. Ruzzo, D. Yagel, H. Reznik-
Wolf, A. Alkelai, R. Milgrom, C. Hartman, R. Shamir,
R. Kleta, L. Pennacchio, D. B. Goldstein, E. Pras, Y.
Anikster, D. Lancet.
285
/10:00
The role of
SIX6
in primary open-
angle glaucoma.
M. Ulmer, Y. Liu, E. Oh, Y. Liu, L.
Pasquale, J. Wiggs, A. Ashley-Koch, R. Allingham, M.
Hauser, NEIGHBORHOOD Consortium.
Friday, October 25
8:00
AM
–10:15
AM
Concurrent Platform (abstract-driven)
Session D (45-53)
SESSION 49 – New Genes and Disorders
Room 205, Level 2, Convention Center
Moderators
:
Howard P. Levy, Johns Hopkins Univ.;
David Sweetser, Massachusetts Gen. Hosp.
286
/8:00
A dominant-negative
GFI1B
mutation
causes autosomal dominant gray platelet
syndrome.
L. Van Laer, D. Monteferrario, N. A. Bolar,
K. Hebeda, S. Bergevoet, H. Veenstra, B. Laros, M.
MacKenzie, E. Fransen, G. Van Camp, F. Preijers, S.
Salemink, W. van Heerde, G. Huls, J. H. Jansen, M.
Kempers, B. A. van der Reijden, B. L. Loeys.
287
/8:15
Identification of disease causing
mutations in a new congenital neutrophil defect
syndrome.
T. Vilboux, A. Lev, M. C. Malicdan, S.
Amos, R. Sood, Y. Anikster, C. Klein, W. A. Gahl, R.
Somech.
288
/8:30
A functional variant in the
CFI
gene
confers a high risk of age-related macular
degeneration.
A. den Hollander, J. P. H. van de Ven,
S. C. Nilsson, P. L. Tan, G. H. S. Buitendijk, T. Ristau,
F. C. Mohlin, S. B. Nabuurs, F. E. Schoenmaker-Koller,
D. Smailhodzic, P. A. Campochiaro, D. J. Zack, M. R.
Duvvari, B. Bakker, C. C. Paun, C. J. F. Boon, A. G.
Uitterlinden, S. Liakopoulos, B. J. Klevering, S. Fauser,
M. R. Daha, N. Katsanis, C. C. W. Klaver, A. M. Blom,
C. B. Hoyng.
289
/8:45
Recurrent genomic mutation
507
delT
in
three lipoid proteinosis (Urbach-Wiethe) pedigrees
from central Iran.
L. Youssefian, H. Vahidnezhad,
M. Daneshpazhooh, S. Abdollahzadeh, H. Talari, C.
Chams-Davatchi, S. Akhondzadeh, R. Mobasher, M.
Tabrizi.
290
/9:00
The neuronal endopeptidase
ECEL1
is
a frequent cause of autosomal recessive distal
arthrogryposis associated with limited knee flexion,
ptosis, and limb muscle and tongue atrophy.
K.
Dieterich, S. Quijano-Roy, N. Monnier, J. Zhou, J.
Faure, D. Avila-Smirnow, R. Y. Carlier, C. Laroche, P.
Marcorelles, S. Mercier, A. Megabarne, S. Odent, N.
Romero, D. Sternberg, I. Marty, B. Estournet, P.-S.
Jouk, J. Melki, J. Lunardi.
291
/9:15
Expanding molecular basis for
rasopathies: A new player?
M. Ludwig, C. Y. Hung,
J. L. McCauley, J. Dallman, E. J. Back, I. Mihalek, G.
X. Shi, D. A. Andres, O. Bodamer.
292
/9:30
MC3R
modifies CF lung disease by
increasing the level of CFTR.
J. Park, J. Pilewski, D.
Belchis, S. Blackman, G. R. Cutting.