Whole exome sequencing identifies mutation of EDNRA involved in ACTH-independent macronodular adrenal hyperplasia

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

Human Gene Mutation Database (HGMD^®): 2003 update

Peter D. Stenson, Edward V. Ball, Matthew Mort et al. · Human Mutation · 2003 · 1.8K citations

Genetics, Genetic Epidemiology, Pathology +17

Distribution and intensity of constraint in mammalian genomic sequence

Gregory M. Cooper, Eric A. Stone, George Asimenos et al. · Genome Research · 2005 · 1.4K citations · Full text

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