Philipp S. Reif

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

Heather C. Mefford, Andrew J. Sharp, Michel Guipponi et al. · Nature Genetics · 2009 · 553 citations · Full text

Neurobiology Of Disease, Psychiatric Genetics, Neurology +5

Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

Bassel Abou‐Khalil, Pauls Auce, Andreja Avberšek et al. · Nature Communications · 2018 · 493 citations · Full text

Epilepsy Therapies, Genetics, Genetic Epidemiology +22

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott et al. · The American Journal of Human Genetics · 2019 · 298 citations · Full text

Allelic Variant, Ultra-rare Genetic Variation, Whole-exome Sequencing Study +10

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 · 161 citations · Full text

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32

Michael Steffens, Costin Leu, Ann‐Kathrin Ruppert et al. · Human Molecular Genetics · 2012 · 149 citations · Full text