Lance H. Rodan

MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome

Julia Wang, Rami Al‐Ouran, Yanhui Hu et al. · The American Journal of Human Genetics · 2017 · 217 citations · Full text

The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease

Rachel Ramoni, John J. Mulvihill, David R. Adams et al. · The American Journal of Human Genetics · 2017 · 181 citations · Full text

Disease Diagnosis, Network Science, Health Informatics +12

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

Sheng Chih Jin, Sara A. Lewis, Somayeh Bakhtiari et al. · Nature Genetics · 2020 · 170 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +5

Defining the phenotypic spectrum of <i>SLC6A1</i> mutations

Katrine M. Johannesen, Elena Gardella, Tarja Linnankivi et al. · Epilepsia · 2018 · 146 citations · Full text

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Katherine L. Helbig, Robert J. Lauerer, Jacqueline C Bahr et al. · The American Journal of Human Genetics · 2018 · 145 citations · Full text

Epileptic Encephalopathy, Neurobiology Of Disease, Pathogenesis +10