Familial Cancer · 2013 · 32 citations · 32 references
MedicineEndocrinologyMolecular GeneticsEndocrine GeneticsNeoplasiaNeuroendocrinologyAdrenal Disorder GeneticsAdrenal DisordersAdrenal EndocrinologyAdrenal HormonesAdrenal SteroidogenesisAdrenal TumorsActh-independent Macronodular Adrenal HyperplasiaAdrenal Cortical HyperplasiaAdrenal NeoplasiaAdrenal PathophysiologyAdrenal Steroidogenesis DefectsMutationWhole Exome Sequencing Studies
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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
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
Human Gene Mutation Database (HGMD<sup>®</sup>): 2003 update
Peter D. Stenson, Edward V. Ball, Matthew Mort et al. · Human Mutation · 2003 · 1.9K citations
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
Life Sciences, Biology, Genetics +15
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
Sarah Ng, Abigail W. Bigham, Kati J. Buckingham et al. · Nature Genetics · 2010 · 1.4K citations · Full text