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Mutation detection rate of exome sequencing using next-generation sequencing panel results as a reference

Clinical Genomics

Date:
Wednesday, Oct 9, 2013 12:00am – 12:00pm

Conference:
NSGC 2013

Authors:
Holly Laduca, Sha Tang, Shruti Bhide, Kelly Gonzalez, Layla Shahmirzadi, Soren Fischbach, Hong Lu, Hsiao-Mei Lu, Xiang Li

Poster
Utilization of diagnostic exome sequencing for the molecular diagnosis of mitochondrial disorders and therapeutic implications

Clinical Genomics

Date:
Wednesday, Jun 12, 2013 12:00am – 12:00pm

Conference:
UMDF 2013

Authors:
S. Tang, KD Gonzalez, W Zeng, L. Shahmirzadi, BT Davis, S. Nahas, JJ Wei, X Li, E. Chao

Collaborators:

University of California, Irvine

Poster
Clinical exome sequencing leads to the diagnosis of mitochondrial complex I deficiency in a family with global developmental delays, ataxia, and cerebellar and pons hypoplasia

Clinical Genomics
Neurology

Date:
Saturday, Jun 8, 2013 12:00am – 12:00pm

Conference:
ESHG 2013

Authors:
P. Gray, W Zeng, S. Tang, J.J. Wei, K. Gonzalez, X Li, HM Lu, H. Lu, E.C. Chao, V. Kimonis

Collaborators:

University of California, Irvine

Poster
Nonsense mutations identified in UBE3B in a patient with Blepharophimosis-Ptosis-Intellectual Disability Syndrome by clinical diagnostic exome sequencing

Clinical Genomics

Date:
Tuesday, Mar 19, 2013 12:00am – 12:00pm

Conference:
ACMG 2013

Authors:
Sha Tang, Wenqi Zeng, Kelly D. Gonzalez, Heather Feenstra, Kwame Anyane-Yeboa

Collaborators:

Columbia University Irving Medical Center

Poster
Clinical diagnostic exome sequencing identified a novel mutation in ACTG2, possibly due to germline mosaicism, in two affected children with megacystis and echogenic bowel in a Chinese family

Clinical Genomics

Date:
Tuesday, Mar 19, 2013 12:00am – 12:00pm

Conference:
ACMG 2013

Authors:
Sha Tang, Lea Tuzovic, Layla Shahmirzadi, Kelly Gonzalez, Xiang Li, Miller Russell, Jennifer J. Wei, Kwame Anyane-Yeboa, Wenqi Zeng

Collaborators:

Columbia University Irving Medical Center

Poster
Apparent digenic triallelic inheritance in early-onset ataxia through whole exome sequencing

Clinical Genomics

Date:
Tuesday, Mar 19, 2013 12:00am – 12:00pm

Conference:
ACMG 2013

Authors:
Michael L. Raff, Julie Simon, Kelly D. Gonzalez, Wenqi Zeng

Collaborators:

Genomics Institute, MultiCare Health System

Poster
Clinical exome sequencing identifies a novel gene, SNAP25, associated with seizures

Clinical Genomics

Date:
Tuesday, Mar 19, 2013 12:00am – 12:00pm

Conference:
ACMG 2013

Authors:
Julie Neidich, Sha Tang, Megan Truitt Cho, Kelly D. Gonzalez, Wendy K. Chung

Collaborators:

Columbia University Irving Medical Center
NY Colombia Presbyterian Hospital

Poster
Family-based exome sequencing reveals that de novo alterations make up a significant portion of previously undiagnosed patients

Clinical Genomics

Date:
Tuesday, Mar 19, 2013 12:00am – 12:00pm

Conference:
ACMG 2013

Authors:
KD Gonzalez, L. Shahmirzadi, S. Tang, X Li, EC Chao, J. Neidich, JJ Wei, W Zeng

Poster
Diagnostic exome sequencing suggests digenic inheritance in a cobalamin metabolism disorder

Clinical Genomics

Date:
Tuesday, Mar 19, 2013 12:00am – 12:00pm

Conference:
ACMG 2013

Authors:
E. Chao, X Li, KD Gonzalez, JE Pellegrino, RT Miller, W Zeng

Collaborators:

SUNY Upstate Medical University, Syracuse, NY

Poster
Exome sequencing in a patient with syndromic intellectual disability identifies ZNF238, a novel gene which lies within the 1q43q44 microdeletion syndrome

Date:
Tuesday, Mar 19, 2013 12:00am – 12:00pm

Conference:
ACMG 2013

Authors:
Julie Cohen, JJ Wei, KD Gonzalez, A Fatemi, W Zeng

Collaborators:

Johns Hopkins Medical Institution
Kennedy Krieger Institute

Poster

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