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Multi-gene panel testing and the cancers identified in patients at risk for hereditary breast cancer

Oncology

Date:
Tuesday, Dec 8, 2015 12:00am – 12:00pm

Conference:
SABCS 2015

Authors:
Nimmi S. Kapoor, Lisa D. Curcio, Patrick M., Jennifer Swisher, West JD D, Kimerbly Banks

Collaborators:

Breastlink

Poster
Multi-gene testing in a male breast cancer cohort: Insights and unexpected results

Oncology

Date:
Tuesday, Dec 8, 2015 12:00am – 12:00pm

Conference:
SABCS 2015

Authors:
Shuwei Li, Holly Laduca, Mary Pritlzaff, Pia Summerour, Rachel McFarland

Abstract Poster
The phenotypic and genetic spectrum of DNM1 encephalopathy

Neurology

Date:
Friday, Dec 4, 2015 12:00am – 12:00pm

Conference:
AES 2015

Authors:
Deepali Shinde, Ingo Helbig, Robert Huether, Charles Lourenço, Katherine L. Helbig, Sarah von Spiczak, M. Pendziwiat, Mark Nunes, Dean Sarco, Richard Kaplan, Dennis Dlugos, Heidi Kirsch, Mackenzie Cervenka, Laura Hernandez-Hernandez, Bridget Maher, Sarah Weckhuysen, Rikke S. Møller, Sergio Pena, Sanjay Sisodiya

Abstract
Delineation of the EEF1A2-Epileptic Encephalopathy Phenotypic Spectrum

Neurology

Date:
Friday, Dec 4, 2015 12:00am – 12:00pm

Conference:
AES 2015

Authors:
Sha Tang, Katherine L. Helbig, Robert Huether, Eva H. Brilstra, Floor E. Jansen, Luis O. Rohena, Timothy Feyma, Christel Depienne, Caroline Nava, Kelly D. Farwell, Bobby P. C. Koeleman, Michael C. Kruer

Poster
Delineating the GRIN1 spectrum – a distinct genetic NMDA receptor encephalopathy

Neurology

Date:
Friday, Dec 4, 2015 12:00am – 12:00pm

Conference:
AES 2015

Authors:
Johannes R. Lemke, Kirsten Geider, Katherine L. Helbig, Henrike O. Heyne, Ingo Helbig, Jacques Michaud, Bodo Laube, Steffen Syrbe

Abstract
Mutations in HUWE1 cause intellectual disability, speech difficulties, and epileptic encephalopathies

Neurology

Date:
Friday, Dec 4, 2015 12:00am – 12:00pm

Conference:
AES 2015

Authors:
K. Johannesen, C. Fenger, S. Schweiger, K. L. Helbig, R. Abrahamsen, R. Schubert, P. Striano, P. Uldall, A. Eysturoy, L. Larsen, K. Baranano, J. Cohen, N. Tommerup, E. Gardella, H. Dahl, U. Zechner, G. Rubboli, R. S. Møller

Abstract
Novel in-frame deletion in GRIA3: A case report

Neurology

Date:
Wednesday, Oct 21, 2015 12:00am – 12:00pm

Conference:
NSGC 2015

Authors:
Heather A. Newman, Amanda L. Bergner, Matthew R.G. Taylor, Jean A. Jirikowic

Collaborators:

University of Colorado School of Medicine

Poster
11p13 microdeletion involving partial deletion of ELP4 in a newborn patient without aniridia

General

Date:
Wednesday, Oct 21, 2015 12:00am – 12:00pm

Conference:
NSGC 2015

Authors:
Vruti Mehta, Anne M. Bandholz, Caroline Williams, Robert Pedersen, Melissa Pronold, Jianbo Song, Zöe Powis, Christina Alamillo, Chia-Ling Gau, PhD, DABMG

Poster
Germline mosaicism detection with family-centered exome sequencing: More common than previously recognized?

Clinical Genomics

Date:
Wednesday, Oct 21, 2015 12:00am – 12:00pm

Conference:
NSGC 2015

Authors:
Sha Tang, Zöe Powis, Kelly Farwell, Layla Shahmirzadi, Dima El-Khechen

Poster
The evaluation of the molecular basis of disease (EMBoDy) in clinical reporting: What genetic counselors need to know for counseling and return of novel genetic etiology results identified via diagnostic exome sequencing

Clinical Genomics

Date:
Wednesday, Oct 21, 2015 12:00am – 12:00pm

Conference:
NSGC 2015

Authors:
Elizabeth Chao, Sha Tang, Kelly Farwell Hagman, Zöe Powis, Dima El-Khechen, Layla Shahmirzadi, Deepali N. Shinde

Poster

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Multi-gene panel testing and the cancers identified in patients at risk for hereditary breast cancer

Multi-gene testing in a male breast cancer cohort: Insights and unexpected results

The phenotypic and genetic spectrum of DNM1 encephalopathy

Delineation of the EEF1A2-Epileptic Encephalopathy Phenotypic Spectrum

Delineating the GRIN1 spectrum – a distinct genetic NMDA receptor encephalopathy

Mutations in HUWE1 cause intellectual disability, speech difficulties, and epileptic encephalopathies

Novel in-frame deletion in GRIA3: A case report

11p13 microdeletion involving partial deletion of ELP4 in a newborn patient without aniridia

Germline mosaicism detection with family-centered exome sequencing: More common than previously recognized?

The evaluation of the molecular basis of disease (EMBoDy) in clinical reporting: What genetic counselors need to know for counseling and return of novel genetic etiology results identified via diagnostic exome sequencing

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