Maria Kousi

Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights

Alexander Gusev, Nicholas Mancuso, Hyejung Won et al. · Nature Genetics · 2018 · 560 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

Claudia Gonzaga‐Jauregui, Tamar Harel, Tomasz Gambin et al. · Cell Reports · 2015 · 247 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Activating mutations in <i>STIM1</i> and <i>ORAI1</i> cause overlapping syndromes of tubular myopathy and congenital miosis

Vasyl Nesin, Graham B. Wiley, Maria Kousi et al. · Proceedings of the National Academy of Sciences · 2014 · 246 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination

David Margolin, Maria Kousi, Yee-Ming Chan et al. · New England Journal of Medicine · 2013 · 232 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes

Margot R.F. Reijnders, Nurhuda Mohamad Ansor, Maria Kousi et al. · The American Journal of Human Genetics · 2017 · 170 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16