Jonna Komulainen‐Ebrahim

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

Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland

Mitja Kurki, Elmo Saarentaus, Olli Pietiläinen et al. · Nature Communications · 2019 · 55 citations · Full text

Ataxia-pancytopenia syndrome with <i>SAMD9L</i> mutations

Sorina Gorcenco, Jonna Komulainen‐Ebrahim, Karin Nordborg et al. · Neurology Genetics · 2017 · 34 citations · Full text

Novel variants and phenotypes widen the phenotypic spectrum of GABRG2-related disorders

Jonna Komulainen‐Ebrahim, John M. Schreiber, Salla M. Kangas et al. · Seizure · 2019 · 23 citations · Full text

Mendelian Disorder, Novel Variants, Genetic Disorder +10

Variants p.Q1236H and p.E1143G in mitochondrial DNA polymerase gamma <i><scp>POLG</scp>1</i> are not associated with increased risk for valproate‐induced hepatotoxicity or pancreatic toxicity: A retrospective cohort study of patients with epilepsy

Johanna Hynynen, Tytti Pokka, Jonna Komulainen‐Ebrahim et al. · Epilepsia · 2018 · 15 citations · Full text