Margaret J. McMillin

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Sarah Ng, Abigail W. Bigham, Kati J. Buckingham et al. · Nature Genetics · 2010 · 1.3K citations · Full text

Engineering, Mendelian Disorder, Identifies Mll2 Mutations +9

Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome

François P. Bernier, Oana Caluseriu, Sarah Ng et al. · The American Journal of Human Genetics · 2012 · 223 citations · Full text

Genetic Disorder, Natural Sciences, Genetics +10

Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

Margaret J. McMillin, Anita E. Beck, Jessica X. Chong et al. · The American Journal of Human Genetics · 2014 · 214 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +4

Spectrum of <i>MLL2</i> (<i>ALR</i>) mutations in 110 cases of Kabuki syndrome

Mark Hannibal, Kati J. Buckingham, Sarah Ng et al. · American Journal of Medical Genetics Part A · 2011 · 192 citations · Full text

Informed consent for whole genome sequencing: A qualitative analysis of participant expectations and perceptions of risks, benefits, and harms

Holly K. Tabor, Jacquie Stock, Tracy Brazg et al. · American Journal of Medical Genetics Part A · 2012 · 118 citations