Cyrus Boelman

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

Anath C. Lionel, Gregory Costain, Nasim Monfared et al. · Genetics in Medicine · 2017 · 551 citations · Full text

Statistical mapping analysis of lesion location and neurological disability in multiple sclerosis: application to 452 patient data sets

Arnaud Charil, Alex Zijdenbos, Jonathan Taylor et al. · NeuroImage · 2003 · 195 citations

Neurological Disorder, Statistical Mapping Analysis, Neuroimaging +7

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

Anna Lehman, Samrat Thouta, Grazia M.S. Mancini et al. · The American Journal of Human Genetics · 2017 · 124 citations · Full text

Epileptic Encephalopathy, Neurophysiology, Genetic Disorder +10

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy

Michelle Demos, Ilaria Guella, C DeGuzman et al. · Frontiers in Neurology · 2019 · 98 citations · Full text

Neurogenomics, Genetics, Treatment Impact +25

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy

Ilaria Guella, Marna B. McKenzie, Daniel M. Evans et al. · The American Journal of Human Genetics · 2017 · 84 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +5