Anna‐Elina Lehesjoki

Mutations in the Gene Encoding Cystatin B in Progressive Myoclonus Epilepsy (EPM1)

L Pennacchio, Anna‐Elina Lehesjoki, Nancy Stone et al. · Science · 1996 · 541 citations

Life Sciences, Genetics, Molecular Genetics +17

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 · 513 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

Johannes R. Lemke, Dennis Lal, Eva M. Reinthaler et al. · Nature Genetics · 2013 · 440 citations

Medicine, Neurology, Neuroscience +14

Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport

Juha Kolehmainen, Graeme C. Black, Anne Saarinen et al. · The American Journal of Human Genetics · 2003 · 376 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

<i>WNT1</i> Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta

Christine Lainé, Kyu Sang Joeng, Philippe M. Campeau et al. · New England Journal of Medicine · 2013 · 356 citations · Full text

Medicine, Genetics, Molecular Genetics +17