ACMG 2015

Session

Pnone

Diagnostic exome sequencing positively identified relevant alterations in half of prenatal samples tested

Poster

Abstract

Vruti Mehta, Marilyn Tsang, Brigette Tippin Davis, Sha Tang, Elizabeth Chao, Christina L. Alamillo, Kelly Farwell, Layla Shahmirzadi, Dima El-Khechen, Zöe Powis, Katherine Helbig, Christian Gund

Diagnostic whole exome sequencing identifies alterations in the novel gene, WARS2, in a patient with severe infantile-onset leukoencephalopathy

Poster

Wendy Alcaraz, Deepali Shinde, Sha Tang, Julie Cohen, Ali Fatemi

Exome sequencing covers >99% of mutations identified on targeted next-generation sequencing panels

Poster

Abstract

Elizabeth Chao, Wenbo Mu, Holly Laduca, Sha Tang, Jefferey Chen, Hsiao-Mei Lu, Huy Vuong, Kelly Farwell, Layla Shahmirzadi

A novel gene not so novel anymore: Personalized in vitro model and further evidence for association of DNM1 with early infantile epileptic encephalopathy through clinical exome sequencing

Poster

Deepali Shinde, Sha Tang, Dima El-Khechen, Katherine Helbig, Mark E. Nunes

A retrospective analysis of multigene panel testing for Marfan syndrome, aneurysm, and related disorders: Diagnostic yield and cardiac phenotypic spectrum

Poster

Abstract

Tami Johnston, Jill Dolinsky, Jade Tinker, Melissa Dempsey, Brigette Tippin Davis, Jennifer Thompson, Tricia Zion, Rachel McFarland, Ira Lu

The likelihood of positive results from diagnostic exome sequencing is not predicted by ordering physician specialty

Poster

Wendy Alcaraz, Elena Rosenberg, Vruti Mehta, Marilyn Tsang, Deepali Shinde, Kelly Radtke, Shuwei Li, Brigette Tippin Davis, Elizabeth Chao, Sha Tang, Zöe Powis, Kelly Farwell Hagman, Layla Shahmirzadi, Dima El-Khechen, Christina L. Alamillo, Katherine Helbig, Christian Gund, Cameron Mroske, Jianbo James Song

Multiple molecular diagnoses identified through diagnostic exome sequencing

Poster

Kelly Radtke, Vruti Mehta, Marilyn Tsang, Deepali Shinde, Wendy Alcaraz, Brigette Tippin Davis, Elizabeth Chao, Sha Tang, Kelly Farwell, Layla Shahmirzadi, Dima El-Khechen, Zöe Powis, Christina L. Alamillo, Christian Gund, Cameron Mroske, Katherine Helbig, Jianbo James Song

Multigene testing for Primary Ciliary Dyskinesia (PCD): Diagnostic yield and phenotypic summary

Poster

Abstract

Jade Tinker, Kendra Waller, Jill Dolinsky, Brigette Tippin Davis, Heather Newman, Sarah E Witherington, Jennifer Thompson, Chia-Ling Gau, PhD, DABMG

Observation of cancers other than breast in monoallelic ATM gene mutation carriers and their families

Poster

Abstract

Holly Laduca, Shuwei Li, Fergus Couch, Elizabeth Chao, Jennifer Geurts, Morgan Depas, Rachel McFarland, Emily Hallberg

Diagnostic exome sequencing: Diagnostic yield, novel gene discovery, expected and unexpected results.

Poster

Sha Tang, Deepali Shinde, Kelly Radtke, Wendy Alcaraz, Brigette Tippin Davis, Elizabeth Chao, Dima El-Khechen, Zöe Powis, Layla Shahmirzadi, Cameron Mroske, Jianbo James Song, Kelly Farwell Hagman

TGFBR2 novel variant, p.Y470D, likely disease causing in large Loeys-Dietz kindred

Poster

Abstract

Tami Johnston, Brigette Tippin Davis, Sarah Swain Barnett, Catherine Harris

Diagnostic exome sequencing detection rates in patients with prior uninformative microarray results

Poster

Vruti Mehta, Elena Rosenberg, Melissa Parra, MS, CGC, Wendy Alcaraz, Kelly Radtke, Brigette Tippin Davis, Sha Tang, Elizabeth Chao, Anne Bandholz, Taylor Cain, Dima El-Khechen, Layla Shahmirzadi, Kelly Farwell, Zöe Powis, Christina L. Alamillo, Katherine Helbig, Christian Gund, Cameron Mroske, Deepali N. Shinde, Jianbo James Song

Diagnostic exome sequencing (DES) of a female patient with features of Autism Spectrum Disorder (ASD) identifies a novel gene, RYR3, which lies at the human 15q14 schizophrenia/autism susceptibility locus

Poster

Sha Tang, Cameron Mroske, Carrie Cain, Kelly Farwell, Dima El-Khechen, Robert Huether, Patricia Wheeler

Clinical diagnostic exome sequencing identifies a maternally inherited 89 base pair deletion in the UBE3A gene associated with Angelman syndrome

Poster

Sha Tang, C. Michael Osborne, Christina L. Alamillo, Zöe Powis, Carrie Cain, Patricia G. Wheeler

Diagnostic exome sequencing identifies alterations in GLI2 and PTCH1 in a previously undiagnosed patient with holoprosencephaly, seizures, and hypopituitarism

Poster

Abstract

Brigette Tippin Davis, Sarah Witherington, Cameron Mroske, Adele Schneider, Zöe Powis

Comparison of clinical features in PTEN positive patients ascertained by single-gene testing versus hereditary cancer multi-gene panel testing

Abstract

Holly Laduca, Brandon Smith, Elizabeth Chao, Elaine Chen Weltmer, Stephany Tandy, Jennifer Thompson, Rachel McFarland