Maria Kousi

Maria Kousi

Massachusetts Institute of Technology - Cambridge / United States
Medical and Health Sciences / Medical Genetics
AD Scientific Index ID: 1351037
person_outline Maria Kousi's MOST POPULAR ARTICLES
1-) Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insightsA Gusev, N Mancuso, H Won, M Kousi, HK Finucane, Y Reshef, L Song, ...Nature genetics 50 (4), 538-548, 20183332018
2-) Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinosesM Kousi, AE Lehesjoki, SE MoleHuman mutation 33 (1), 42-63, 20123092012
3-) Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosisV Nesin, G Wiley, M Kousi, EC Ong, T Lehmann, DJ Nicholl, M Suri, ...Proceedings of the National Academy of Sciences 111 (11), 4197-4202, 20142432014
4-) Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitinationDH Margolin, M Kousi, YM Chan, ET Lim, JD Schmahmann, ...New England Journal of Medicine 368 (21), 1992-2003, 20132542013
5-) Exome sequence analysis suggests that genetic burden contributes to phenotypic variability and complex neuropathyC Gonzaga-Jauregui, T Harel, T Gambin, M Kousi, LB Griffin, ...Cell reports 12 (7), 1169-1183, 20152522015