PubRank

Jozef Gecz

Author PubWeight™ 96.78‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet 2009 8.30
2 Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Am J Hum Genet 2005 3.87
3 Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. Am J Hum Genet 2004 2.99
4 Identification of a microRNA that activates gene expression by repressing nonsense-mediated RNA decay. Mol Cell 2011 2.73
5 PHF6 mutations in T-cell acute lymphoblastic leukemia. Nat Genet 2010 2.66
6 SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. Am J Hum Genet 2008 2.16
7 Mutations in DEPDC5 cause familial focal epilepsy with variable foci. Nat Genet 2013 2.10
8 XLMR genes: update 2007. Eur J Hum Genet 2008 2.07
9 Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor. Am J Hum Genet 2007 2.07
10 Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. Am J Hum Genet 2004 2.04
11 Epilepsy and mental retardation limited to females: an under-recognized disorder. Brain 2008 1.94
12 Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. Am J Hum Genet 2010 1.87
13 Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation. Am J Hum Genet 2006 1.85
14 Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation. Am J Hum Genet 2008 1.82
15 Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. Sci Transl Med 2010 1.75
16 Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus. Am J Hum Genet 2007 1.73
17 Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Hum Mutat 2007 1.68
18 Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. Ann Neurol 2014 1.62
19 Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability. Am J Hum Genet 2010 1.60
20 A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. Am J Hum Genet 2010 1.48
21 ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation. Am J Hum Genet 2005 1.38
22 Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor. Hum Mol Genet 2007 1.36
23 Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy. Eur J Hum Genet 2008 1.34
24 Nonsyndromic X-linked mental retardation: where are the missing mutations? Trends Genet 2003 1.30
25 Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly. Am J Hum Genet 2007 1.26
26 A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. Am J Hum Genet 2012 1.17
27 Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation. Am J Med Genet 2002 1.15
28 A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. Am J Hum Genet 2011 1.11
29 CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes. Eur J Hum Genet 2009 1.11
30 Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans. Proc Natl Acad Sci U S A 2007 1.11
31 The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal outgrowth. Hum Mol Genet 2013 1.04
32 FOXP1 mutations cause intellectual disability and a recognizable phenotype. Am J Med Genet A 2013 1.04
33 Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations. Eur J Hum Genet 2012 1.02
34 MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression. Eur J Hum Genet 2008 1.00
35 Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation. Eur J Hum Genet 2009 0.99
36 Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. Am J Hum Genet 2010 0.97
37 Functional characterization of the AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disability. Hum Mol Genet 2011 0.96
38 Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. J Med Genet 2009 0.96
39 FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structure. Nucleic Acids Res 2009 0.94
40 Loss of Usp9x disrupts cortical architecture, hippocampal development and TGFβ-mediated axonogenesis. PLoS One 2013 0.94
41 A novel locus for X-linked congenital cataract on Xq24. Mol Vis 2008 0.94
42 Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region. Hum Genet 2007 0.93
43 La FAM fatale: USP9X in development and disease. Cell Mol Life Sci 2015 0.92
44 Lessons learnt from large-scale exon re-sequencing of the X chromosome. Hum Mol Genet 2009 0.92
45 TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation. Epilepsy Res 2013 0.92
46 A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C. Pathogenetics 2010 0.91
47 CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling. J Clin Invest 2013 0.91
48 A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX. Am J Hum Genet 2012 0.90
49 Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X). Eur J Hum Genet 2009 0.88
50 Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1. Eur J Hum Genet 2011 0.87
51 Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders. Twin Res Hum Genet 2010 0.86
52 'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation. Brain 2013 0.86
53 ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. Am J Hum Genet 2013 0.85
54 TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features. Neurology 2016 0.85
55 Loss of FMR2 further emphasizes the link between deregulation of immediate early response genes FOS and JUN and intellectual disability. Hum Mol Genet 2013 0.83
56 Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation. Eur J Hum Genet 2006 0.83
57 Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation. Hum Mol Genet 2013 0.82
58 XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene. BMC Med Genet 2005 0.82
59 NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy. Eur J Med Genet 2013 0.82
60 A novel de novo 27 bp duplication of the ARX gene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations. Am J Med Genet A 2009 0.81
61 Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact NKX2-1. Am J Med Genet A 2012 0.80
62 Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay. Eur J Med Genet 2012 0.80
63 A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian family. Am J Med Genet A 2009 0.79
64 TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation. BMC Med Genet 2004 0.79
65 A novel contiguous gene deletion of AVPR2 and ARHGAP4 genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disability. Am J Med Genet A 2012 0.79
66 Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation? Eur J Hum Genet 2012 0.79
67 A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32. BMC Med Genet 2010 0.78
68 Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1 duplication in a patient with schizophrenia. Am J Med Genet B Neuropsychiatr Genet 2011 0.77
69 Interchromosomal insertional translocation at Xq26.3 alters SOX3 expression in an individual with XX male sex reversal. J Clin Endocrinol Metab 2015 0.77
70 Polyalanine tract disorders and neurocognitive phenotypes. Adv Exp Med Biol 2012 0.77
71 Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH. Eur J Med Genet 2007 0.77
72 Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes. Hum Genet 2008 0.76
73 Great expectations: using massively parallel sequencing to solve inherited disorders. Expert Rev Mol Diagn 2010 0.76
74 Genetics of the epilepsies: genetic twists in the channels and other tales. Epilepsia 2010 0.75
75 "Blinders, phenotype, and fashionable genetic analysis": setting the record straight for epilepsy! Epilepsia 2011 0.75
76 Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome. Am J Hum Genet 2016 0.75