Maria Kousi
Maria Kousi
Research Scientist, Massachusetts Institute of Technology (MIT) and the Broad Institute of MIT and
Verified email at
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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
M Kousi, AE Lehesjoki, SE Mole
Human mutation 33 (1), 42-63, 2012
Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights
A Gusev, N Mancuso, H Won, M Kousi, HK Finucane, Y Reshef, L Song, ...
Nature genetics 50 (4), 538-548, 2018
Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis
V Nesin, G Wiley, M Kousi, EC Ong, T Lehmann, DJ Nicholl, M Suri, ...
Proceedings of the National Academy of Sciences 111 (11), 4197-4202, 2014
Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination
DH Margolin, M Kousi, YM Chan, ET Lim, JD Schmahmann, ...
New England Journal of Medicine 368 (21), 1992-2003, 2013
Exome sequence analysis suggests that genetic burden contributes to phenotypic variability and complex neuropathy
C Gonzaga-Jauregui, T Harel, T Gambin, M Kousi, LB Griffin, ...
Cell reports 12 (7), 1169-1183, 2015
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis
M Kousi, E Siintola, L Dvorakova, H Vlaskova, J Turnbull, M Topcu, ...
Brain 132 (3), 810-819, 2009
Identification of cis-suppression of human disease mutations by comparative genomics.
KJ Jordan DM, Frangakis SG, Golzio C, Cassa CA, ...
Nature 524 (7564), 225-229, 2015
Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a down syndrome-like facies
M Niceta, E Stellacci, KW Gripp, G Zampino, M Kousi, M Anselmi, ...
The American Journal of Human Genetics 96 (5), 816-825, 2015
Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor
H Hor, L Francescatto, L Bartesaghi, S Ortega-Cubero, M Kousi, ...
Human molecular genetics 24 (20), 5677-5686, 2015
BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies
G Borck, F Hög, ML Dentici, PL Tan, N Sowada, A Medeira, L Gueneau, ...
Genome research 25 (2), 155-166, 2015
Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene
M Kousi, V Anttila, A Schulz, S Calafato, E Jakkula, E Riesch, ...
Journal of medical genetics 49 (6), 391-399, 2012
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder
SB Wortmann, S Ziętkiewicz, M Kousi, R Szklarczyk, TB Haack, ...
The American Journal of Human Genetics 96 (2), 245-257, 2015
RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes
MRF Reijnders, NM Ansor, M Kousi, WW Yue, PL Tan, K Clarkson, ...
The American Journal of Human Genetics 101 (3), 466-477, 2017
TAF1 variants are associated with dysmorphic features, intellectual disability, and neurological manifestations
JA O’Rawe, Y Wu, MJ Dörfel, AF Rope, PYB Au, JS Parboosingh, S Moon, ...
The American Journal of Human Genetics 97 (6), 922-932, 2015
Genetic modifiers and oligogenic inheritance
M Kousi, N Katsanis
Cold Spring Harbor perspectives in medicine 5 (6), a017145, 2015
The genetic basis of hydrocephalus
M Kousi, N Katsanis
Annual review of neuroscience 39, 409-435, 2016
Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis
A Sharifi, M Kousi, C Sagne, GC Bellenchi, L Morel, M Darmon, ...
Human molecular genetics 19 (22), 4497-4514, 2010
Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome
EC Schulte, M Kousi, PL Tan, E Tilch, F Knauf, P Lichtner, C Trenkwalder, ...
The American Journal of Human Genetics 95 (1), 85-95, 2014
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability
MRF Reijnders, M Kousi, GM Van Woerden, M Klein, J Bralten, ...
Nature communications 8 (1), 1-12, 2017
Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration
V Muto, E Flex, Z Kupchinsky, G Primiano, H Galehdari, M Dehghani, ...
Neurology 91 (4), e319-e330, 2018
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