Shiva Ganesan

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

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

Ingo Helbig, Tania López-Hernández, Oded Shor et al. · The American Journal of Human Genetics · 2019 · 132 citations · Full text

Life Sciences, Molecular Genetics, Neuroscience +17

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

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

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

Ludovica Montanucci, David Lewis‐Smith, Ryan L. Collins et al. · Nature Communications · 2023 · 56 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17