Holly K. Tabor

Exome sequencing identifies the cause of a mendelian disorder

Sarah Ng, Kati J. Buckingham, Choli Lee et al. · Nature Genetics · 2009 · 1.9K citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +3

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

Older Women with Diabetes Have an Increased Risk of Fracture: A Prospective Study

Ann V. Schwartz, Deborah E. Sellmeyer, Kristine E. Ensrud et al. · The Journal of Clinical Endocrinology & Metabolism · 2001 · 778 citations · Full text

Noninvasive Whole-Genome Sequencing of a Human Fetus

Jacob O. Kitzman, Matthew W. Snyder, Mario Ventura et al. · Science Translational Medicine · 2012 · 410 citations

Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes

Michael O. Dorschner, Laura M. Amendola, Emily H. Turner et al. · The American Journal of Human Genetics · 2013 · 381 citations · Full text

Pathogenic Incidental Findings, Genetic Epidemiology, Mendelian Disorder +1