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933W A single SNP surrogate for HLA-Cw6 genotyping
in diverse populations.
R. P. Nair, P. E. Stuart, T. Tejasvi,
P. A. Shaiq, R. Qamar, G. K. Raja, P. Kullavanijaya, J.
Ding, Y. Li, J. J. Voorhees, G. R. Abecasis, J. T. Elder.
934W A novel proteomics approach for identification
of protein-RNA complex associated with specific gene
loci using a human artificial chromosome.
T. Seko, S.
Yamaguchi, Y. Yoshimura, Y. Nakayama, M. Kato, T.
Obayashi, M. Oshimura, H. Kugoh.
935W Efficient computing of genotype calling for
GWAS.
S. Leo, I. Zara, M. Valentini, S. Sanna, G. Zanetti.
936W Pegasus WMS: Enabling bioinformatics using
workflow technologies.
G. Mehta, E. Deelman, K. Vahi,
Y. Wang, A. Clark, R. Mayani, T. Chen, J. Knowles.
937W Handling the data management needs of high-
throughput sequencing data and GWAS: SpeedGene, a
C++ library for the fast and efficient storage of genetic
data.
D. Qiao, W. Yip, C. Lange.
938W Software library and tools for efficient and
flexible processing of sequence reads and variant
calls.
M. Trost, G. R. Abecasis, H. M. Kang.
939W Improving mate-paired sequencing for
submicrogram human samples.
Z. Chen, M. Wei, T.
Biorac, B. Li, X. Xu, G. Marnellos, R. Bennett.
940W Methods for systematically reducing the
uncertainty in calling copy number variations by
combining information from multiple sources and
technologies.
D. S. Greer, D. Malhotra, W. Wu, J. Sebat,
Psychiatric GWAS Consortium.
941W Chromosome copy number variation by digital
PCR.
J. T. Wang, J. T. Kuykendall, J. F. Stevens.
942W Evaluation of recruitment strategies for Web-
based genetic studies.
E. M. Drabant, K. E. Barnholt, C.
Dijamco, J. Y. Tung, A. K. Kiefer, J. L. Mountain, A.
Wojcicki.
943W Scalable data management and computable
framework for large scale longitudinal studies.
L.
Lianas, G. Cuccuru, S. Leo, I. Zara, M. Pitzalis, M.
Zoledziewska, F. Deidda, S. Sanna, G. Zanetti.
Clinical Genetics and Dysmorphology
944W The clinical and molecular genetic
characteristics of Korean patients with
argininosuccinate synthetase (ASS1) deficiency.
B. W.
Jeon, B. H. Lee, G. H. Kim, J. M. Kim, J. H. Choi, H. W.
Yoo.
945W Investigation of ECM1 mutation in lipoid
proteinosis.
F. Mahjoubi, S. Samanian, F. Izadi, M. M.
Tavakoli, M. Farhadi.
Wednesday Poster Authors are reminded to remove posters from the boards at 6:30 pm.
946W Proteinuria in infantile-onset spinocerebellar
ataxia, type 2.
R. K. Brar, C. Moore, L. Eviatar, R. Smit
C. Sethna, M. G. Bialer.
947W Investigation of triplet repeat nucleotide in
ATXN8OS gene in one SCA8 suspected patient.
Z.
Ghaderi Ardekani, M. Houshmand, O. Aryani, N.
Chaparzadeh.
948W CHARGE syndrome: Report a new case.
E.
Hernandez Gomez, L. Hernández Gómez, S. G. Juárez
García, D. O. Gómez Torres.
949W Otofaciocervical syndrome in a Mexican famil
L. Hernandez-Gomez, E. Hernández Gómez, S. G. Juár
García, D. O. Gómez Torres.
950W Velocardiofacial syndrome: Report of case.
S.
Juarez-Garcia, L. Hernández Gómez, E. Hernández
Gómez, F. Castillo Lorca, D. O. Gómez Torres.
951W Novel locus identified for branchio-oto-renal
syndrome.
A. Sun, K. Taylor, N. Kramer, J. M. Graham.
952W Inherited systemic hyalinosis: A novel mutatio
and association with marked alpha-ketoglutaric
aciduria.
F. Al Murshedi, S. Al Sinani, R. Abdwani.
953W A report of three patients with MMP2 associat
hereditary osteolysis.
M. S. Aglan, S. A. Temtamy, S.
Ismail, A. M. Ashour, L. A. Hosni, T. H. El-Badry, E. H. A
Aboul-Ezz, K. Amr, E. Fateen, T. Maguire, K. Ungerer, A
Zankl.
954W Chronic tibial nonunion in a Rothmund-Thoms
syndrome patient.
A. M. Carlson, S. Kirmani, K. B.
Thomas, N. M. Lindor.
955W De novo microdeletion of chromosome region
1p36.12: Unmasking a rare autosomal recessive for
of spondyloepimetaphyseal dysplasia.
L. Dupuis, A.
Guerin, E. Goh, A. Chaudhry, M. Shago, R. Zeller, D. J.
Stavropoulos, R. Mendoza-Londono.
956W Vitamin D status and decreased muscle functi
in children with neurofibromatosis type 1.
S. M. Hus
C. W. Hockett, J. Eelloo, S. Roberts, J. Berry, C. Chalo
Z. Mughal.
957W Association study of common polymorphisms
human lysyl oxidase genes with adolescent idiopath
scoliosis.
T. L. McGregor, C. A. Gurnett, M. B. Dobbs,
A. Wise, J. A. Morcuende, T. M. Morgan, R. Menon, L.
Muglia.
958W Expanding the phenotype of the novel Ehlers-
Danlos caused by mutations in the
CHST14
gene.
R.
Mendoza-Londono, D. Chitayat, W. Kahr, A. Hinek, S.
Blaser, L. Dupuis, E. Goh, A. Howard, L. Mittaz, A.
Superti-Furga, S. Unger, G. Nishimura, L. Bonafe.