ACMG 2015

Session

Pnone

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

Poster

Abstract

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

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

Poster

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

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

Poster

Abstract

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

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

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

Poster

Abstract

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

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

Poster

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

Multiple molecular diagnoses identified through diagnostic exome sequencing

Poster

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

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

Poster

Abstract

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

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

Poster

Abstract

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

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

Poster

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

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

Poster

Abstract

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

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

Poster

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

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

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

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

Poster

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

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

Poster

Abstract

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

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

Abstract

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