PubRank

Hans van Bokhoven

Author PubWeight™ 147.83‹?›

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 Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nat Genet 2006 6.15
3 Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet 2002 3.09
4 Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet 2007 3.02
5 SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell 2010 2.49
6 Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Am J Hum Genet 2006 2.31
7 ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum Mol Genet 2002 2.30
8 Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus. PLoS Genet 2010 2.14
9 Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet 2012 2.12
10 p63-associated disorders. Cell Cycle 2007 2.05
11 Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry. Science 2013 1.91
12 WNT5A mutations in patients with autosomal dominant Robinow syndrome. Dev Dyn 2010 1.91
13 Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Nat Genet 2012 1.90
14 Pathogenesis of split-hand/split-foot malformation. Hum Mol Genet 2003 1.83
15 OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am J Hum Genet 2009 1.83
16 Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability. J Med Genet 2011 1.81
17 Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. Am J Hum Genet 2008 1.80
18 Mutations in different components of FGF signaling in LADD syndrome. Nat Genet 2006 1.76
19 Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nat Genet 2011 1.74
20 Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia. Am J Hum Genet 2007 1.71
21 Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Hum Mutat 2007 1.68
22 Cooperation between the transcription factors p63 and IRF6 is essential to prevent cleft palate in mice. J Clin Invest 2010 1.67
23 Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. Am J Hum Genet 2006 1.56
24 Epigenetic regulation of learning and memory by Drosophila EHMT/G9a. PLoS Biol 2011 1.55
25 Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. Hum Genet 2007 1.51
26 Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects. J Med Genet 2012 1.51
27 Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. Am J Hum Genet 2012 1.51
28 Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. Am J Hum Genet 2013 1.50
29 Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia. Am J Hum Genet 2012 1.49
30 Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome. Eur J Hum Genet 2009 1.40
31 ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation. Am J Hum Genet 2005 1.38
32 Pattern of p63 mutations and their phenotypes--update. Am J Med Genet A 2006 1.36
33 Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. PLoS Genet 2011 1.36
34 Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. Hum Mol Genet 2013 1.36
35 A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Brain 2010 1.34
36 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
37 Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy. Eur J Hum Genet 2005 1.32
38 Mutations in the human TBX4 gene cause small patella syndrome. Am J Hum Genet 2004 1.31
39 Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63. Hum Mol Genet 2002 1.29
40 Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation. Am J Hum Genet 2004 1.29
41 PRPS1 mutations: four distinct syndromes and potential treatment. Am J Hum Genet 2010 1.26
42 Genotype-phenotype correlations in MYCN-related Feingold syndrome. Hum Mutat 2008 1.24
43 Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. Am J Hum Genet 2012 1.22
44 Arts syndrome is caused by loss-of-function mutations in PRPS1. Am J Hum Genet 2007 1.20
45 Mutations in MED12 cause X-linked Ohdo syndrome. Am J Hum Genet 2013 1.20
46 Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome. Am J Hum Genet 2010 1.18
47 Genetic and epigenetic defects in mental retardation. Int J Biochem Cell Biol 2008 1.15
48 Feingold syndrome: clinical review and genetic mapping. Am J Med Genet A 2003 1.15
49 Plexin D1 expression is induced on tumor vasculature and tumor cells: a novel target for diagnosis and therapy? Cancer Res 2005 1.14
50 The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. Hum Mutat 2006 1.14
51 Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. PLoS Genet 2011 1.13
52 Mutant p63 causes defective expansion of ectodermal progenitor cells and impaired FGF signalling in AEC syndrome. EMBO Mol Med 2012 1.13
53 Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders. Hum Mol Genet 2013 1.12
54 Comparison of 12 reference genes for normalization of gene expression levels in Epstein-Barr virus-transformed lymphoblastoid cell lines and fibroblasts. Mol Diagn Ther 2006 1.12
55 Differential altered stability and transcriptional activity of ΔNp63 mutants in distinct ectodermal dysplasias. J Cell Sci 2011 1.11
56 Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation. Hum Genet 2005 1.10
57 Reduced exploration, increased anxiety, and altered social behavior: Autistic-like features of euchromatin histone methyltransferase 1 heterozygous knockout mice. Behav Brain Res 2009 1.10
58 Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. J Med Genet 2013 1.08
59 Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8. Am J Med Genet A 2006 1.08
60 Genetic players in esophageal atresia and tracheoesophageal fistula. Curr Opin Genet Dev 2005 1.07
61 SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway. Hum Mol Genet 2009 1.05
62 p63 control of desmosome gene expression and adhesion is compromised in AEC syndrome. Hum Mol Genet 2012 1.04
63 Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC). Am J Med Genet A 2009 1.02
64 A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes. Hum Mol Genet 2008 1.02
65 Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice. PLoS Genet 2011 1.01
66 Expanding phenotype of XNP mutations: mild to moderate mental retardation. Am J Med Genet 2002 1.01
67 In-frame deletion in MECP2 causes mild nonspecific mental retardation. Am J Med Genet 2002 1.00
68 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
69 Hippocampal dysfunction in the Euchromatin histone methyltransferase 1 heterozygous knockout mouse model for Kleefstra syndrome. Hum Mol Genet 2012 0.99
70 Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I. Am J Med Genet A 2012 0.96
71 De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum. Hum Genet 2014 0.96
72 Homozygosity mapping in outbred families with mental retardation. Eur J Hum Genet 2011 0.95
73 UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients. Am J Med Genet A 2010 0.93
74 TAp63 is important for cardiac differentiation of embryonic stem cells and heart development. Stem Cells 2011 0.93
75 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
76 CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation. Hum Genet 2010 0.92
77 MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics. Eur J Hum Genet 2004 0.92
78 Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome. Am J Med Genet A 2006 0.92
79 GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila. J Med Genet 2013 0.91
80 Impaired epithelial differentiation of induced pluripotent stem cells from ectodermal dysplasia-related patients is rescued by the small compound APR-246/PRIMA-1MET. Proc Natl Acad Sci U S A 2013 0.90
81 Regulation of MYCN expression in human neuroblastoma cells. BMC Cancer 2009 0.89
82 Human intellectual disability genes form conserved functional modules in Drosophila. PLoS Genet 2013 0.89
83 Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1. J Hum Genet 2006 0.89
84 Role of p63 and the Notch pathway in cochlea development and sensorineural deafness. Proc Natl Acad Sci U S A 2013 0.88
85 Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5 Mb on chromosome 2q14.1-q14.2. Eur J Hum Genet 2009 0.88
86 Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation. Am J Med Genet A 2006 0.87
87 APR-246/PRIMA-1(MET) rescues epidermal differentiation in skin keratinocytes derived from EEC syndrome patients with p63 mutations. Proc Natl Acad Sci U S A 2013 0.86
88 Identifying new candidate genes for hereditary facial paresis on chromosome 3q21-q22 by RNA in situ hybridization in mouse. Genomics 2005 0.86
89 Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies. Eur J Med Genet 2012 0.86
90 A novel deletion mutation in proteoglycan-4 underlies camptodactyly-arthropathy-coxa-vara-pericarditis syndrome in a consanguineous pakistani family. Arch Med Res 2011 0.85
91 Low frequency of MECP2 mutations in mentally retarded males. Eur J Hum Genet 2002 0.83
92 High-resolution genomic microarrays for X-linked mental retardation. Genet Med 2007 0.83
93 Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene. Eur J Hum Genet 2006 0.82
94 Variants in CUL4B are associated with cerebral malformations. Hum Mutat 2015 0.82
95 Split hand-foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion-evidence for further heterogeneity? Am J Med Genet A 2009 0.82
96 A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet-Biedl syndrome in a Pakistani family. Gene 2013 0.81
97 Identifying genes responsible for intellectual disability in consanguineous families. Hum Hered 2014 0.81
98 Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes. Eur J Hum Genet 2006 0.81
99 Comprehensive genetic analysis of OEIS complex reveals no evidence for a recurrent microdeletion or duplication. Am J Med Genet A 2011 0.80
100 Evidence for genetic heterogeneity in familial isolated patella aplasia-hypoplasia. Am J Med Genet 2002 0.80
101 Genomic approaches for studying craniofacial disorders. Am J Med Genet C Semin Med Genet 2013 0.80
102 Expanding the clinical spectrum of MYCN-related Feingold syndrome. Am J Med Genet A 2006 0.80
103 A gene for nonsyndromic X-linked mental retardation (MRX77) maps to Xq12-Xq21.33. Am J Med Genet A 2003 0.80
104 A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype. Eur J Hum Genet 2012 0.80
105 Targeted next generation sequencing reveals a novel intragenic deletion of the TPO gene in a family with intellectual disability. Arch Med Res 2012 0.80
106 Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax. Am J Med Genet A 2009 0.79
107 EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation? Am J Med Genet A 2007 0.78
108 Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation. Am J Med Genet A 2010 0.77
109 A new chromosome x exon-specific microarray platform for screening of patients with X-linked disorders. J Mol Diagn 2009 0.77
110 Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH. Eur J Med Genet 2007 0.77
111 Nucleotide variation analysis does not support a causal role for plexin-A1 in hereditary congenital facial paresis. Brain Res Dev Brain Res 2005 0.76
112 Sequence analysis of the PLEXIN-D1 gene in Möbius syndrome patients. Pediatr Neurol 2004 0.76
113 Localization of a gene for nonspecific X-linked mental retardation (MRX 76) to Xp22.3-Xp21.3. Am J Med Genet 2002 0.76
114 Regulation of vitamin metabolism by p53 and p63 in development and cancer. Cell Cycle 2010 0.76
115 End-stage renal failure, reflux nephropathy and Feingold's syndrome. Pediatr Nephrol 2007 0.75
116 Sleep Disturbance as a Precursor of Severe Regression in Kleefstra Syndrome Suggests a Need for Firm and Rapid Pharmacological Treatment. Clin Neuropharmacol 2017 0.75
117 Limb-mammary syndrome (LMS) associated with internal female genitalia dysgenesia: a new genotype/phenotype correlation? Am J Med Genet A 2008 0.75
118 A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia. Am J Med Genet A 2011 0.75