Page 250 - ASHG 2013 Program Guide

POSTER SESSIONS
  237
POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
3050
W
WNT1
mutations in early-onset osteoporosis
and osteogenesis imperfecta.
P. Campeau, C. Laine,
K. S. Joeng, R. Kiviranta, K. Tarkkonen, M. Grover, J. T.
Lu, M. Pekkinen, M. Wessman, T. J. Heino, V. Nieminen-
Pihala, M. Aronen, T. Laine, H. Kröger, W. G. Cole, A. E.
Lehesjoki, L. Nevarez, D. Krakow, C. J. R. Curry, D. H.
Cohn, R. A. Gibbs, O. Mäkitie, B. H. Lee.
3051
T Identification of novel
SHOX
target genes in the
developing limb using a transgenic mouse model.
G. A.
Rappold, A. Glaser, K. Kleinschmidt, I. Scholl, R. Röth, L.
Li, N. Gretz, G. Mechtersheimer, M. Karperien, A. Marchini,
W. Richter, K. U. Beiser.
3052
F HIBCH deficiency in a patient with phenotypic
characteristics of mitochondrial disorders.
M. S.
Reuter, J. O. Sass, A. B. Ekici, I. Schanze, T. Leis, S. Uebe,
R. Abou Jamra, A. Reis.
3053
W Discovery of a novel genetic disorder and
increased diagnostic rate using next-generation
sequencing in heterogeneous ataxias.
A. H. Németh,
A. C. Kwasniewska, S. Lise, R. Parolin Schnekenberg,
E. B. E. Becker, K. D. Bera, M. E. Shanks, L. Gregory, D.
Buck, M. Z. Cader, K. Talbot, R. de Silva, N. Fletcher, R.
Hastings, S. Jayawant, P. J. Morrison, P. Worth, M. Taylor,
J. Tolmie, M. O’Regan, R. Valentine, E. Packham, J. Evans,
P. Clouston, A. Seller, J. Ragoussis, UK Ataxia Consortium.
3054
T Shouting won’t help: A combined strategy (next-
generation sequencing and linkage analysis) to identify
hereditary hearing loss genes in affected families.
D.
Vozzi, G. Girotto, F. Faletra, E. Rubinato, A. Morgan, D.
Vuckovic, S. Lenarduzzi, M. Morgutti, P. Gasparini.
3055
F Genetic etiology study of the non-syndromic
deafness in Chinese Hans by targeted next-generation
sequencing.
T. Yang, H. Wu, Y. Chai.
3056
W Exome sequencing identifies NFS1 deficienc
in a novel Fe-S cluster disease, infantile mitochondrial
complex II/III deficienc .
S. M. K. Farhan, J. Wang, J. F.
Robinson, P. Lahiry, V. M. Siu, C. Prasad, J. B. Kronick, D.
A. Ramsay, C. A. Rupar, R. A. Hegele.
3057
T Reducing the cost of whole exome sequencing of
parent-affected offspring trios by joint Bayesian variant
calling.
B. Hilbush, J. Blue-Smith, S. Lombardi, R. Littin, L.
Trigg, A. Jackson, D. Ware, J. G. Cleary, F. M. De La Vega.
3058
F Systematic identification of causal mutations in
Mendelian disorders using exome sequence data.
B.
Thomas, M. Lek, N. Clarke, L. Waddell, M. A. Depristo, M.
J. Daly, J. Laporte, J. J. Dowling, C. G. Bonnemann, K. N.
North, D. G. MacArthur.
3059
W Mutations in
PDGFRB
and
NOTCH3
as causes
of autosomal dominant infantile myofib omatosis.
L.
Tian, J. Martignetti, L. Dong, M. Ramirez, O. Camacho,
C. Camacho-Vanegas, Y. Guo, D. Zand, A. Bernstein,
S. Masur, C. Kim, F. Otieno, C. Hou, N. Abdel-Magid, B.
Tweddale, D. Metry, J. Fournet, E. Papp, E. McPherson, C.
Zabel, G. Vaksmann, C. Morisot, B. Keating, P. Sleiman,
J. Cleveland, D. Everman, D. Cho, Z. Li, E. Zackai, H.
Hakonarson.
3039
T RNA-seq gene expression profiling identifie
MEK1/2 and SHP2 as positive regulators of
chondrocyte terminal differentiation.
M. E. Bowen, U.
M. Ayturk, W. Yang, M. L. Warman.
3040
F Absence of CyPB directly affects collagen
folding and glycosylation, and indirectly affects helical
hydroxylation by LH1, altering bone crosslink patterns.
W. A. Cabral, I. Perdivara, M. A. Weis, M. Terajima, A. R.
Blissett, W. Chang, E. N. Makareeva, E. L. Mertz, S. Leikin,
K. B. Tomer, D. R. Eyre, M. Yamauchi, J. C. Marini.
3041
W Use of whole exome sequence analysis to
identify
TLE4
as a causal variant in a family with
congenital kyphoscoliosis and prolonged patency of
the anterior fontanelle.
P. Giampietro, A. Stoddard, D.
Sweetser, C. Raggio, R. Blank, M. Stephan, K. Rasmussen,
K. Gill, S. Sund, R. Lorier, A. Turner, U. Broeckel.
3042
T Exome sequencing reveals
INPPL1
mutations in
opsismodysplasia.
C. Huber, E. A. Faqeih, D. Bartholdi,
C. Bole-Feysot, Z. Borochowitz, D. P. Cavalcanti, A. Frigo,
P. Nitschke, J. Roume, H. G. Santos, S. A. Shalev, A.
Superti-Furga, A. L. Delezoide, K. M. Girisha, M. Wright,
M. Le Merrer, A. Munnich, V. Cormier-Daire.
3043
F Novel mutations in the
LRP5
gene in patients
with osteoporosis-pseudoglioma syndrome.
M.
Pekkinen, G. Grigelioniene, L. Akin, K. Shah, K. Karaer, S.
Kurtoglu, A. V. Ekbote, E. Sagsak, J. Söderholm, S. Vallius,
S. Danda, E. Åström, O. Mäkitie.
3044
W Altered osteoblast function underlies phenotype
of type V osteogenesis imperfecta.
A. Reich, A. S. Bae, A.
M. Barnes, W. A. Cabral, D. Chitayat, S. C. Hill, J. C. Marini.
3045
T Whole exome sequencing and functional follow
up in 114 cases of non-motile ciliopathies: Jeune-
asphyxiating thoracic dysplasia (JATD), short-rib-
polydactyly-syndrome (SRPS), Bardet-Biedl-syndrome
(
BBS), Joubert syndrome (JS) and others.
M. Schmidts,
E. Chanudet, A. M. McInerney-Leo, C. Cortes, V. Plagnol,
F. Lescai, S. Christou, H. Jungbluth, G. Haliloglu, H.
Kayserili, N. Elcioglu, B. Tuyusz, M. E. Hurles, P. J.
Scambler, A. Zankl, M. A. Brown, E. Duncan, UK10K, C.
Wicking, P. L. Beales, H. M. Mitchison.
3046
F Haplotype analysis supports a “founder” for the
Balkan OPG mutation causing juvenile Paget’s disease.
S. Mumm, K. Geczi, M. Huskey, D. Naot, S. Polyzos, T.
Cundy, W. Van Hul, P. Singhellakis, M. P. Whyte.
3047
W Exome analysis on tubular aggregate myopathy.
Y. Endo, K. Motomura, Y. K. Hayashi, S. Noguchi, I.
Nonaka, M. Mori-Yoshimura, Y. Oya, I. Nishino.
3048
T Novel
COL11A1
mutations in Stickler syndrome
detected by next-generation sequencing.
F. Acke,
F. Malfait, O. Vanakker, W. Steyaert, K. De Leeneer, I.
Dhooge, A. De Paepe, E. De Leenheer, P. Coucke.
3049
F Mutation analysis of
COL1A1
and
COL1A2
genes
in Indian patients with osteogenesis imperfecta.
J.
Stephen, A. Shukla, A. Dalal, G. Katta, N. Gupta, M. Kabra,
P. Dabadghao, S. Phadke.