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

Clinical Genomics

Date:
Sunday, Oct 16, 2016 11:00am – 12:00pm

Conference:
ASHG 2016

Authors:
Adam Chamberlin, Sha Tang, Zöe Powis

Collaborators:

SUNY Upstate Medical University, Syracuse, NY

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

Clinical Genomics

Date:
Sunday, Oct 16, 2016 11:00am – 12:00pm

Conference:
ASHG 2016

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

Collaborators:

ClinGen

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

Clinical Genomics

Date:
Sunday, Oct 16, 2016 11:00am – 12:00pm

Conference:
ASHG 2016

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

Collaborators:

Stanford

Abstract Poster
The many faces of SCN1A

Clinical Genomics

Date:
Sunday, Oct 16, 2016 11:00am – 12:00pm

Conference:
ASHG 2016

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

Poster Abstract
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

Clinical Genomics

Date:
Sunday, Oct 16, 2016 11:00am – 12:00pm

Conference:
ASHG 2016

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

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

Clinical Genomics

Date:
Sunday, Oct 16, 2016 11:00am – 12:00pm

Conference:
ASHG 2016

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

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

Clinical Genomics

Date:
Sunday, Oct 16, 2016 11:00am – 12:00pm

Conference:
ASHG 2016

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

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

Clinical Genomics

Date:
Sunday, Oct 16, 2016 11:00am – 12:00pm

Conference:
ASHG 2016

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

Collaborators:

Ohio State University (OSU)

Poster Abstract
Advances in the Diagnosis of Hereditary Kidney Cancer: Initial Results of a Multigene Panel Test

Oncology

Date:
Sunday, Oct 16, 2016 11:00am – 12:00pm

Conference:
AUA 2017

Authors:
Carin Espenschied, Holly Laduca, Kevin A. Nguyen, Jamil Syed, Ansh Bhagat, Timothy O’Rourke Jr., Brian Shuch

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

Clinical Genomics

Date:
Sunday, Oct 16, 2016 11:00am – 12:00pm

Conference:
ASHG 2016

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

Poster Abstract

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Scientific Posters

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

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

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

The many faces of SCN1A

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

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

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

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

Advances in the Diagnosis of Hereditary Kidney Cancer: Initial Results of a Multigene Panel Test

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

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