Michael J. Bamshad

Targeted capture and massively parallel sequencing of 12 human exomes

Sarah Ng, Emily H. Turner, Peggy D. Robertson et al. · Nature · 2009 · 2K citations · Full text

Bioinformatics, Long-read Sequencing, Dna Sequencing +10

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

The Simons Genome Diversity Project: 300 genomes from 142 diverse populations

Swapan Mallick, Heng Li, Mark Lipson et al. · Nature · 2016 · 1.7K citations · Full text

Genetic Diversity, Diverse Populations, Molecular Ecology +10

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

Jacob A. Tennessen, Abigail W. Bigham, Timothy D. O’Connor et al. · Science · 2012 · 1.7K citations · Full text

Genetics, Genetic Epidemiology, Molecular Genetics +31

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