ASHG 2013

Session

P1111T

DES is uniquely useful in the identification of multi-gene alterations: Oligogenic findings make up a significant portion of previously undiagnosed patients

Abstract

B. Tippin Davis, E. Chao, K. Gonzalez, L. Shahmirzadi, M. Parra, S. Gandomi, S. Tang, W Zeng

Session

P1341T

Clinical exome sequencing identifies two novel IQSEC2 mutations associated with X-linked intellectual disability with seizures: implications for genetic counseling and clinical diagnosis

Abstract

J. Mancuso, K.D. Farwell Gonzalez, L. Shahmirzadi, P. Pichurin, R. Temme, S. Dugan, S.K. Gandomi, S. Tang, W Zeng

Session

P2629F

Diagnostic exome sequencing beneficial among patients with a prior diagnosis

Abstract

B. Trippin, E. Chao, K.D Gonzalez, L.M. Shahmirzadi, S. Gandomi, S. Nahas, S. Tang, W Zeng

Session

P2630W

A retrospective analysis of discrepancies between genotypes and phenotypes on next generation sequencing colon cancer panels (ColoNext NGS): Implications for clinical diagnosis

Abstract

A. Stuenkel, C. Radford, E. Chen, H. LaDuca, S. Keiles, S. Tandy, T. Pesaran, V. Speare, W Zeng

Session

P2694W

Case report of a 17q21.31 microdeletion associated with EFTUD2 mandibulofacial dysostosis with microcephaly identified by comparative genomic hybridization

Abstract

Poster

C.L. Gau, D.M. Reeves, M. Parra, S.K. Gandomi, V. Yap

Session

P3063T

Haploinsufficiency of GJB5 identified via exome sequencing causesa novel form of cutis laxa

Abstract

A. Belousov, I. Saadi, J. Roberts, K. Gonzalez, M. Butler, M. Dasouki, W Zeng

Session

P3497F

Cancer phenotypes of germline monoallelic ATM mutation carriers and their families

Abstract

A. Stuenkel, C. Gau, C. Radford, E. Chen, H. LaDuca, S. Keiles, S. Tandy, T. Pesaran, V. Speare