David Lewis‐Smith

The Human Phenotype Ontology in 2021

Sebastian Köhler, Michael Gargano, Nicolas Matentzoglu et al. · Nucleic Acids Research · 2020 · 1.2K citations · Full text

Medicine, Bioinformatics, Neurology +15

The Human Phenotype Ontology in 2024: phenotypes around the world

Michael Gargano, Nicolas Matentzoglu, Ben Coleman et al. · Nucleic Acids Research · 2023 · 375 citations · Full text

Medicine, Biomedical Informatics, Health Informatics +15

Assessing the landscape of <i>STXBP1</i>-related disorders in 534 individuals

Julie Xian, Shridhar Parthasarathy, Sarah M. Ruggiero et al. · Brain · 2021 · 122 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Homozygous deletion in <i>MICU1</i> presenting with fatigue and lethargy in childhood

David Lewis‐Smith, Kimberli J. Kamer, Helen Griffin et al. · Neurology Genetics · 2016 · 106 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders

Katherine Crawford, Julie Xian, Katherine L. Helbig et al. · Genetics in Medicine · 2021 · 69 citations · Full text

Life Sciences, Bioinformatics, Genetics +15