| 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 | 419 | 2018 |
| 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 | 347 | 2012 |
| 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 | 254 | 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 | 245 | 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 | 243 | 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 | 144 | 2017 |
| 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 | 143 | 2009 |
| 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 | 128 | 2015 |
| 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 | 126 | 2015 |
| 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 | 124 | 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 | 123 | 2015 |
| Genetic modifiers and oligogenic inheritance M Kousi, N Katsanis Cold Spring Harbor Perspectives in Medicine 5 (6), a017145, 2015 | 117 | 2015 |
| The genetic basis of hydrocephalus M Kousi, N Katsanis Annual review of neuroscience 39, 409-435, 2016 | 113 | 2016 |
| 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 | 111 | 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 | 110 | 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 | 100 | 2012 |
| Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis A Sharifi, M Kousi, C Sagné, GC Bellenchi, L Morel, M Darmon, ... Human molecular genetics 19 (22), 4497-4514, 2010 | 71 | 2010 |
| 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), 1052, 2017 | 63 | 2017 |
| 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 | 51 | 2014 |
| Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion R Spataro, M Kousi, SMK Farhan, JR Willer, JP Ross, PA Dion, ... Human genomics 13, 1-10, 2019 | 48 | 2019 |
