Ephrem Chin

Microarray-based mutation detection in the<i>dystrophin</i>gene

Madhuri Hegde, Ephrem Chin, Jennifer G. Mullé et al. · Human Mutation · 2008 · 114 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations

Ephrem Chin, Cristina da Silva, Madhuri Hegde · BMC Genetics · 2013 · 96 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation

Melanie A. Jones, Shruti Bhide, Ephrem Chin et al. · Genetics in Medicine · 2011 · 90 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

DDOST Mutations Identified by Whole-Exome Sequencing Are Implicated in Congenital Disorders of Glycosylation

Melanie A. Jones, Bobby Ng, Shruti Bhide et al. · The American Journal of Human Genetics · 2012 · 76 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Assessment of Target Enrichment Platforms Using Massively Parallel Sequencing for the Mutation Detection for Congenital Muscular Dystrophy

C. Alexander Valencia, Devin Rhodenizer, Shruti Bhide et al. · Journal of Molecular Diagnostics · 2012 · 59 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17