Susan M. Hiatt

RefSeq: an update on mammalian reference sequences

Kim D. Pruitt, Garth Brown, Susan M. Hiatt et al. · Nucleic Acids Research · 2013 · 1K citations · Full text

Life Sciences, Bioinformatics, Molecular Biology +17

Genomic diagnosis for children with intellectual disability and/or developmental delay

Kevin M. Bowling, Michelle L. Thompson, Michelle D. Amaral et al. · Genome Medicine · 2017 · 282 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Robert C. Green, Katrina A.B. Goddard, Gail P. Jarvik et al. · The American Journal of Human Genetics · 2016 · 164 citations · Full text

Life Sciences, Bioinformatics, Molecular Medicine +16

Current status and new features of the Consensus Coding Sequence database

Catherine M. Farrell, Nuala A. O’Leary, Rachel Harte et al. · Nucleic Acids Research · 2013 · 159 citations · Full text

Life Sciences, Bioinformatics, Molecular Biology +17

Germline and somatic mutations in the <i>MTOR</i> gene in focal cortical dysplasia and epilepsy

Rikke S. Møller, Sarah Weckhuysen, Mathilde Chipaux et al. · Neurology Genetics · 2016 · 156 citations · Full text

Medicine, Genetics, Molecular Genetics +17