M
Maria Kousi
Researcher at Duke University
Publications - 30
Citations - 2555
Maria Kousi is an academic researcher from Duke University. The author has contributed to research in topics: Genetic heterogeneity & Missense mutation. The author has an hindex of 20, co-authored 29 publications receiving 1995 citations. Previous affiliations of Maria Kousi include Broad Institute & Massachusetts Institute of Technology.
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Journal ArticleDOI
Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights
Alexander Gusev,Alexander Gusev,Nicholas Mancuso,Hyejung Won,Maria Kousi,Hilary K. Finucane,Hilary K. Finucane,Hilary K. Finucane,Yakir A. Reshef,Lingyun Song,Alexias Safi,Steven A. McCarroll,Steven A. McCarroll,Benjamin M. Neale,Benjamin M. Neale,Roel A. Ophoff,Roel A. Ophoff,Michael Conlon O'Donovan,Gregory E. Crawford,Daniel H. Geschwind,Nicholas Katsanis,Patrick F. Sullivan,Patrick F. Sullivan,Bogdan Pasaniuc,Alkes L. Price,Alkes L. Price +25 more
TL;DR: A transcriptome- wide association study integrating genome-wide association data with expression data from brain, blood and adipose tissues identifies new candidate susceptibility genes for schizophrenia, providing a step toward understanding the underlying biology.
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Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
TL;DR: The increase in the genetic understanding of the NCLs has led to improved diagnostic approaches, and the recent proposal of a new nomenclature is proposed, with an emphasis on their complex correlation to phenotypes.
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Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy
Claudia Gonzaga-Jauregui,Claudia Gonzaga-Jauregui,Tamar Harel,Tomasz Gambin,Maria Kousi,Laurie B. Griffin,Ludmila Francescatto,Burcak Ozes,Ender Karaca,Shalini N. Jhangiani,Matthew N. Bainbridge,Kim Lawson,Davut Pehlivan,Yuji Okamoto,Marjorie Withers,Pedro Mancias,Anne Slavotinek,Pamela J. Reitnauer,Meryem Tuba Goksungur,Michael E. Shy,Thomas O. Crawford,Michel Koenig,Michel Koenig,Jason R. Willer,Brittany N. Flores,Igor Pediaditrakis,Onder Us,Wojciech Wiszniewski,Yesim Parman,Anthony Antonellis,Donna M. Muzny,Nicholas Katsanis,Esra Battaloglu,Eric Boerwinkle,Eric Boerwinkle,Richard A. Gibbs,James R. Lupski +36 more
TL;DR: Aggregate analysis of mutation data revealed a significantly increased number of rare variants across 58 neuropathy-associated genes in subjects versus controls, suggesting that mutation burden potentially contributes to phenotypic variability.
Journal ArticleDOI
Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.
Vasyl Nesin,Graham B. Wiley,Maria Kousi,E-Ching Ong,Thomas Lehmann,David Nicholl,Mohnish Suri,Nortina Shahrizaila,Nicholas Katsanis,Patrick M. Gaffney,Klaas J. Wierenga,Leonidas Tsiokas +11 more
TL;DR: This work identifies gain-of-function mutations in the cytoplasmic domain of STIM1 associated with thrombocytopenia, bleeding diathesis, miosis, and tubular myopathy in patients with Stormorken syndrome, and advances knowledge of the molecular function of the CRAC channel.
Journal ArticleDOI
Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination
David Margolin,Maria Kousi,Yee-Ming Chan,Elaine T. Lim,Jeremy D. Schmahmann,Marios Hadjivassiliou,Janet E. Hall,Ibrahim Adam,Andrew A. Dwyer,Lacey Plummer,Stephanie V. Aldrin,Julia A. O'Rourke,Andrew Kirby,Kasper Lage,Kasper Lage,Kasper Lage,Aubrey Milunsky,Jeff M. Milunsky,Jennifer A. Chan,E. Tessa Hedley-Whyte,Mark J. Daly,Nicholas Katsanis,Stephanie B. Seminara +22 more
TL;DR: These findings link disordered ubiquitination to neurodegeneration and reproductive dysfunction and highlight the power of whole-exome sequencing in combination with functional studies to unveil genetic interactions that cause disease.