ASHG 2016

Poster # n/a

Sunday, October 16, 2016 11:00 - 12:00pm Abstract Poster

Adam Chamberlin, Sha Tang, Zöe Powis. A novel autosomal recessive alteration in the RYR1 gene in a patient with profound hypotonia.

Poster # n/a

Sunday, October 16, 2016 11:00 - 12:00pm Abstract Poster

Dajun Qian, Shuwei Li, Virginia Speare, Holly LaDuca, Hsiao-Mei Lu. Cancer risks are elevated among relatives of MRE11A, RAD50 and NBN mutation carriers but similar to mutation negative families in a laboratory based cohort.

Poster # n/a

Sunday, October 16, 2016 11:00 - 12:00pm Abstract

M. Rahman, N. Rao, L. Spiteri, Timothy Vo. Conventional cytogenetics: Gold standard for mapping of large genomic imbalances on chromosome.

Poster # n/a

Sunday, October 16, 2016 11:00 - 12:00pm Abstract Poster

Deepali Shinde, Zöe Powis, J.S. Cohen, D. Escolar, J. Burton, C. M. A. van Ravenswaaij­-Arts, A.P.A Stegmann, R. Chikarmane, A. Begtrup, Sha Tang. De novo alterations in KLF7 are a novel cause of intellectual disability, psychiatric, and neuromuscular issues.

Poster # n/a

Sunday, October 16, 2016 11:00 - 12:00pm Abstract Poster

Christian Gund, Wendy Alcaraz, Samin Sajan, Zöe Powis, A. Vashist, P. Suwannarat. Diagnostic exome sequencing identifies a novel homozygous alteration in DEAF1 further delineating the phenotypic spectrum.

Poster # n/a

Sunday, October 16, 2016 11:00 - 12:00pm Abstract Poster

Anne M. Bandholz, Vruti Mehta, Zöe Powis, Elizabeth Spiter, Mari Ross. Diagnostic yield for chromosome microarray analysis in patients with autistic features.

Poster # tbd

Sunday, October 16, 2016 11:00 - 12:00pm Abstract Poster

Rachid Karam, Suzette Faber-Katz, Vickie Hsuan, Sitao Wu, Hsiao-Mei Lu, Robert Huether, Stephanie Lam, Jayne Hoo, Tina Pesaran, Yuriy Shevchenko, Aaron Elliott. High-throughput characterization of BRCA1 and BRCA2 splicing defects.

Poster # n/a

Sunday, October 16, 2016 11:00 - 12:00pm Abstract Poster

Sha Tang, Kelly Hagman, Taylor Cain, Heather Newman, Zöe Powis. Inheritance patterns may not always be as expected: Diagnostic exome sequencing (DES) uncovers alterations in X-linked genes in equal amounts in males and females with intellectual disability.

Poster # n/a

Sunday, October 16, 2016 11:00 - 12:00pm Abstract Poster

Hansook Chong, Wenbo Mu, Sara Willett, Stephanie Lam, Robert Huether, Adam Chamberlin, Rachid Karam, Tina Pesaran, Heidi Lu, Aaron Elliott. Reclassifying duplication variants in high-risk cancer genes by identifying tandem duplication breakpoints.

Poster # n/a

Sunday, October 16, 2016 11:00 - 12:00pm Abstract Poster

Holly LaDuca, Rachel McFarland, Stephanie Gutierrez, Amal Yussuf, Nadia Ho, Patrick Reineke, Taylor Cain, Kirsten Blanco, Jill Dolinsky. Taming concerns regarding the accuracy of laboratory clinical data: A detailed comparative analysis.

Poster # n/a

Sunday, October 16, 2016 11:00 - 12:00pm Abstract Poster

Tina Pesaran, Rachid Karam, Robert Huether. The PTEN Gene ClinGen Expert Panel: A model for creating a framework for gene specific criteria using ACMG guidelines.

Poster # n/a

Sunday, October 16, 2016 11:00 - 12:00pm Abstract Poster

Rachel McFarland, Holly LaDuca, Brandon Smith, Tina Pesaran. The PTEN promoter to be or not to be included on Multigene panel tests?.

Poster # n/a

Sunday, October 16, 2016 11:00 - 12:00pm Abstract Poster

Elaine C. Weltmer, Amanda Bergner, Amal Yussuf, Zöe Powis, Negar Ghahramani, Jing Wang. The many faces of SCN1A.

Session # Platform# 17, Session#8

Wednesday, October 19, 2016 9:00 - 9:15am Abstract

Fergus J. Couch, Carin Espenshied, Rachel McFarland, Tina Pesaran, Holly LaDuca, Jill Dolinsky, Robert Huether. Cancer risks associated with predisposition gene mutations identified by hereditary cancer panel testing of 85,000 patients