American Society of Human Genetics annual meeting
Poster # 2630W
Tuesday, October 22, 2013 12:00 - 12:00pm Abstract
S. Tandy, A. Stuenkel, T. Pesaran, H. LaDuca, E. Chen, S. Keiles, V. Speare, C. Radford, W. Zeng. A retrospective analysis of discrepancies between genotypes and phenotypes on next generation sequencing colon cancer panels (ColoNext NGS): Implications for clinical diagnosis.
Poster # 3497F
Tuesday, October 22, 2013 12:00 - 12:00pm Abstract
H. LaDuca, A. Stuenkel, S. Keiles, T. Pesaran, S. Tandy, E. Chen, V. Speare, C. Radford, C. Gau. Cancer phenotypes of germline monoallelic ATM mutation carriers and their families.
Poster # 2694W
Tuesday, October 22, 2013 12:00 - 12:00pm Abstract Poster
S.K. Gandomi, D.M. Reeves, M. Parra, C.L. Gau, V. Yap. Case report of a 17q21.31 microdeletion associated with EFTUD2 mandibulofacial dysostosis with microcephaly identified by comparative genomic hybridization.
Poster # 1341T
Tuesday, October 22, 2013 12:00 - 12:00pm Abstract
S. Tang, S.K. Gandomi, K.D. Farwell Gonzalez, L. Shahmirzadi, J. Mancuso, P. Pichurin, R. Temme, S. Dugan, W. Zeng. Clinical exome sequencing identifies two novel IQSEC2 mutations associated with X-linked intellectual disability with seizures: implications for genetic counseling and clinical diagnosis.
Poster # 1111T
Tuesday, October 22, 2013 12:00 - 12:00pm Abstract
K. Gonzalez, L. Shahmirzadi, E. Chao, S. Gandomi, M. Parra, B. Tippin Davis, W. Zeng, S. Tang. DES is uniquely useful in the identification of multi-gene alterations: Oligogenic findings make up a significant portion of previously undiagnosed patients.
Poster # 2629F
Tuesday, October 22, 2013 12:00 - 12:00pm Abstract
L.M. Shahmirzadi, K.D Gonzalez, S. Tang, E. Chao, S. Gandomi, B. Trippin, S. Nahas, W. Zeng. Diagnostic exome sequencing beneficial among patients with a prior diagnosis.
Poster # 3063T
Tuesday, October 22, 2013 12:00 - 12:00pm Abstract
M. Dasouki, J. Roberts, K. Gonzalez, W. Zeng, M. Butler, A. Belousov, I. Saadi. Haploinsufficiency of GJB5 identified via exome sequencing causesa novel form of cutis laxa.