Elisa Rahikkala

Association of <i>MTOR</i> Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism

Ghayda Mirzaa, Catarina D. Campbell, Nadia Solovieff et al. · JAMA Neurology · 2016 · 272 citations · Full text

Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms

Bianca Tesi, Josef Davidsson, Elisa Rahikkala et al. · Blood · 2017 · 197 citations · Full text

A mutation update on the LDS-associated genes<i>TGFB2/3</i>and<i>SMAD2/3</i>

Dorien Schepers, Giada Tortora, Hiroko Morisaki et al. · Human Mutation · 2018 · 160 citations · Full text

De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

Jae-Ran Lee, Myriam Srour, Doyoun Kim et al. · Human Mutation · 2014 · 151 citations

Neurological Disorder, Genetics, Spastic Paraparesis +20

Genetic Risk Factors Associated With Preeclampsia and Hypertensive Disorders of Pregnancy

Jaakko Tyrmi, Tea Kaartokallio, A. Inkeri Lokki et al. · JAMA Cardiology · 2023 · 114 citations · Full text