Julien Buratti

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

Sheng Chih Jin, Sara A. Lewis, Somayeh Bakhtiari et al. · Nature Genetics · 2020 · 175 citations · Full text

Life Sciences, Genetics, Neuroscience +14

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

Rahel T. Florian, Florian Kraft, Elsa Leitão et al. · Nature Communications · 2019 · 170 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

Mark Corbett, Thessa Kroes, Liana Veneziano et al. · Nature Communications · 2019 · 166 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 153 citations · Full text

Medicine, Genetics, Molecular Genetics +15

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

Davor Lessel, Christina Gehbauer, Nuria C. Bramswig et al. · Brain · 2018 · 134 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17