ACMG 2013

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

Poster

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

Diagnostic exome sequencing suggests digenic inheritance in a cobalamin metabolism disorder

Poster

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

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

Poster

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

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

Poster

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

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

Poster

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

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

Poster

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

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

Poster

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