Maria Kousi
Maria Kousi
Research Scientist, Massachusetts Institute of Technology (MIT) and the Broad Institute of MIT and
Verified email at mit.edu
Title
Cited by
Cited by
Year
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
2652012
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
2092018
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
1852014
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
1802013
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
1752015
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
1022009
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
902015
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
902015
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
852015
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
842015
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
752012
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
742015
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
732017
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
732015
Genetic modifiers and oligogenic inheritance
M Kousi, N Katsanis
Cold Spring Harbor perspectives in medicine 5 (6), a017145, 2015
692015
The genetic basis of hydrocephalus
M Kousi, N Katsanis
Annual review of neuroscience 39, 409-435, 2016
562016
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
472010
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
392014
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
332017
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
222018
The system can't perform the operation now. Try again later.
Articles 1–20