Choli Lee

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

Brian J. O’Roak, Laura Vives, Santhosh Girirajan et al. · Nature · 2012 · 2.2K citations · Full text

Bioinformatics, Sporadic Autism Exomes, Syndromic Autism +11

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

Comprehensive single-cell transcriptional profiling of a multicellular organism

Junyue Cao, Jonathan S. Packer, Vijay Ramani et al. · Science · 2017 · 1.5K 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