American College of Medical Genetics and Genomics annual meeting
Poster # tbd
Tuesday, March 19, 2013 12:00 - 12:00pm Poster
Michael L. Raff, Julie Simon, Kelly D. Gonzalez, Wenqi Zeng. Apparent digenic triallelic inheritance in early-onset ataxia through whole exome sequencing.
Poster # tbd
Tuesday, March 19, 2013 12:00 - 12:00pm Poster
Sha Tang, Lea Tuzovic, Layla Shahmirzadi, Kelly Gonzalez, Xiang Li, Miller Russell, Jennifer J. Wei, Kwame Anyane-Yeboa, 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 # tbd
Tuesday, March 19, 2013 12:00 - 12:00pm Poster
Julie Neidich, Megan Truitt Cho, Kelly D. Gonzalez, Sha Tang, Wendy K. Chung. Clinical exome sequencing identifies a novel gene, SNAP25, associated with seizures.
Poster # tbd
Tuesday, March 19, 2013 12:00 - 12:00pm Poster
E Chao, X Li, KD Gonzalez, JE Pellegrino, RT Miller, W Zeng. Diagnostic exome sequencing suggests digenic inheritance in a cobalamin metabolism disorder.
Poster # tbd
Tuesday, March 19, 2013 12:00 - 12:00pm Poster
JJ Wei, KD Gonzalez, A Fatemi, Julie Cohen, W Zeng. Exome sequencing in a patient with syndromic intellectual disability identifies ZNF238, a novel gene which lies within the 1q43q44 microdeletion syndrome.
Poster # tbd
Tuesday, March 19, 2013 12:00 - 12:00pm Poster
KD Gonzalez, L Shahmirzadi, S Tang, X Li, EC Chao, J Neidich, JJ Wei, W Zeng. Family-based exome sequencing reveals that de novo alterations make up a significant portion of previously undiagnosed patients.
Poster # tbd
Tuesday, March 19, 2013 12:00 - 12:00pm Poster
Wenqi Zeng, Sha Tang, Kelly D. Gonzalez, Heather Feenstra, Kwame Anyane-Yeboa. Nonsense mutations identified in UBE3B in a patient with Blepharophimosis-Ptosis-Intellectual Disability Syndrome by clinical diagnostic exome sequencing.