Jozef Gecz
Jozef Gecz
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Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males
H Van Esch, M Bauters, J Ignatius, M Jansen, M Raynaud, K Hollanders, ...
The American Journal of Human Genetics 77 (3), 442-453, 2005
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
PS Tarpey, R Smith, E Pleasance, A Whibley, S Edkins, C Hardy, ...
Nature genetics 41 (5), 535-543, 2009
A recurrent 16p12. 1 microdeletion supports a two-hit model for severe developmental delay
S Girirajan, JA Rosenfeld, GM Cooper, F Antonacci, P Siswara, A Itsara, ...
Nature genetics 42 (3), 203-209, 2010
Refining analyses of copy number variation identifies specific genes associated with developmental delay
BP Coe, K Witherspoon, JA Rosenfeld, BWM Van Bon, ...
Nature genetics 46 (10), 1063-1071, 2014
Correlation between genotype and phenotype in patients with cystic fibrosis
LC Tsui
New England journal of medicine 329, 1308-1313, 1993
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation
LS Weaving, J Christodoulou, SL Williamson, KL Friend, OLD McKenzie, ...
The American Journal of Human Genetics 75 (6), 1079-1093, 2004
Cerebral palsy: causes, pathways, and the role of genetic variants
AH MacLennan, SC Thompson, J Gecz
American journal of obstetrics and gynecology 213 (6), 779-788, 2015
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
HAF Stessman, BO Xiong, BP Coe, T Wang, K Hoekzema, M Fenckova, ...
Nature genetics 49 (4), 515-526, 2017
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
P StrÝmme, ME Mangelsdorf, MA Shaw, KM Lower, SME Lewis, ...
Nature genetics 30 (4), 441-445, 2002
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
LM Dibbens, PS Tarpey, K Hynes, MA Bayly, IE Scheffer, R Smith, ...
Nature genetics 40 (6), 776-781, 2008
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation
LR Jensen, M Amende, U Gurok, B Moser, V Gimmel, A Tzschach, ...
The American Journal of Human Genetics 76 (2), 227-236, 2005
Mutations in DEPDC5 cause familial focal epilepsy with variable foci
LM Dibbens, B De Vries, S Donatello, SE Heron, BL Hodgson, ...
Nature genetics 45 (5), 546-551, 2013
Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation
VM Kalscheuer, J Tao, A Donnelly, G Hollway, E Schwinger, S KŁbart, ...
The American Journal of Human Genetics 72 (6), 1401-1411, 2003
Mutations in the X-linked cyclin-dependent kinase–like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation
J Tao, H Van Esch, M Hagedorn-Greiwe, K Hoffmann, B Moser, ...
The American Journal of Human Genetics 75 (6), 1149-1154, 2004
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation
T Bienvenu, K Poirier, G Friocourt, N Bahi, D Beaumont, F Fauchereau, ...
Human molecular genetics 11 (8), 981, 2002
Identification of the gene FMR2, associated with FRAXE mental retardation
J Gecz, AK Gedeon, GR Sutherland, JC Mulley
Nature genetics 13 (1), 105-108, 1996
Identification of a microRNA that activates gene expression by repressing nonsense-mediated RNA decay
IG Bruno, R Karam, L Huang, A Bhardwaj, CH Lou, EY Shum, HW Song, ...
Molecular cell 42 (4), 500-510, 2011
PHF6 mutations in T-cell acute lymphoblastic leukemia
P Van Vlierberghe, T Palomero, H Khiabanian, J Van der Meulen, ...
Nature genetics 42 (4), 338-342, 2010
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort
S Eggers, S Sadedin, JA Van Den Bergen, G Robevska, T Ohnesorg, ...
Genome biology 17, 1-21, 2016
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
H Hu, SA Haas, J Chelly, H Van Esch, M Raynaud, APM de Brouwer, ...
Molecular psychiatry 21 (1), 133-148, 2016
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