ASHG 2016

Novel mutation in CLTC associated with anomalous development

Poster

Cameron Mroske, J. DeMari, J. Nimeh, R. Lebel, R. Miller, Sha Tang

Session

Pn/a

Diagnostic yield for chromosome microarray analysis in patients with autistic features

Abstract

Poster

Anne M. Bandholz, Elizabeth Spiter, Mari Ross, Vruti Mehta, Zöe Powis

Session

Pn/a

Reclassifying duplication variants in high-risk cancer genes by identifying tandem duplication breakpoints

Abstract

Poster

Aaron Elliott, Adam Chamberlin, Hansook Chong, Heidi Lu, Rachid Karam, PhD, Robert Huether, Sara Willett, Stephanie Lam, Tina Pesaran, MA, MS, CGC, Wenbo Mu

Session

Pn/a

Diagnostic exome sequencing identifies a novel homozygous alteration in DEAF1 further delineating the phenotypic spectrum

Abstract

Poster

A. Vashist, Christian Gund, P. Suwannarat, Samin Sajan, Wendy Alcaraz, Zöe Powis

High-throughput characterization of BRCA1 and BRCA2 splicing defects

Poster

Abstract

Aaron Elliott, Hsiao-Mei Lu, Jayne Hoo, Rachid Karam, PhD, Robert Huether, Sitao Wu, Stephanie Lam, Suzette Faber-Katz, Tina Pesaran, MA, MS, CGC, Vickie Hsuan, Yuriy Shevchenko

Session

Pn/a

Taming concerns regarding the accuracy of laboratory clinical data: A detailed comparative analysis

Poster

Abstract

Amal Yussuf, Holly Laduca, Jill Dolinsky, Kirsten Blanco, Nadia Ho, Patrick Reineke, Rachel McFarland, Stephanie Gutierrez, Taylor Cain

Session

Pn/a

The PTEN promoter to be or not to be included on Multigene panel tests?

Poster

Abstract

Brandon Smith, Holly Laduca, Rachel McFarland, Tina Pesaran, MA, MS, CGC

Session

Pn/a

Conventional cytogenetics: Gold standard for mapping of large genomic imbalances on chromosome

Abstract

L. Spiteri, M. Rahman, N. Rao, Timothy Vo

Session

Pn/a

De novo alterations in KLF7 are a novel cause of intellectual disability, psychiatric, and neuromuscular issues

Poster

Abstract

A. Begtrup, A.P.A Stegmann, C. M. A. van Ravenswaaij­-Arts, D. Escolar, Deepali Shinde, J. Burton, J.S. Cohen, R. Chikarmane, Sha Tang, Zöe Powis

Session

Pn/a

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

Abstract

Poster

Heather Newman, Kelly Hagman, MS, CGC, LGC, Sha Tang, Taylor Cain, Zöe Powis

Session

Pn/a

The many faces of SCN1A

Poster

Abstract

Amal Yussuf, Amanda Bergner, Elaine C. Weltmer, Jing Wang, Negar Ghahramani, Zöe Powis

Session

Pn/a

Cancer risks are elevated among relatives of MRE11A, RAD50 and NBN mutation carriers but similar to mutation negative families in a laboratory based cohort

Abstract

Poster

Dajun Qian, Holly Laduca, Hsiao-Mei Lu, Shuwei Li, Virginia Speare

Session

Pn/a

The PTEN Gene ClinGen Expert Panel: A model for creating a framework for gene specific criteria using ACMG guidelines

Abstract

Poster

Rachid Karam, PhD, Robert Huether, Tina Pesaran, MA, MS, CGC

Session

Pn/a

A novel autosomal recessive alteration in the RYR1 gene in a patient with profound hypotonia

Abstract

Poster

Adam Chamberlin, Sha Tang, Zöe Powis