Amit Kawalia

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease

Henne Holstege, Marc Hulsman, Camille Charbonnier et al. · Nature Genetics · 2022 · 219 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

Julian Schubert, Aleksandra Siekierska, Mélanie Langlois et al. · Nature Genetics · 2014 · 197 citations

Life Sciences, Genetics, Neuroscience +13

Alzheimer’s disease-associated (hydroxy)methylomic changes in the brain and blood

Roy Lardenoije, Janou A. Y. Roubroeks, Ehsan Pishva et al. · Clinical Epigenetics · 2019 · 142 citations · Full text

Life Sciences, Genetics, Neuroscience +17

A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity

Sven J. van der Lee, Olivia J. Conway, Iris E. Jansen et al. · Acta Neuropathologica · 2019 · 131 citations · Full text

Medicine, Genetics, Molecular Genetics +13

<i>DEPDC5</i> mutations in genetic focal epilepsies of childhood

Dennis Lal, Eva M. Reinthaler, Julian Schubert et al. · Annals of Neurology · 2014 · 115 citations

Medicine, Genetics, Neurology +17