ACMG 2013

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

Poster

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

Diagnostic exome sequencing suggests digenic inheritance in a cobalamin metabolism disorder

Poster

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

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

Poster

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

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

Poster

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

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

Poster

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

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

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

Poster

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