PubRank

Joris A Veltman

Author PubWeight™ 202.21‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med 2008 10.88
2 Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 2012 10.80
3 Diagnostic genome profiling in mental retardation. Am J Hum Genet 2005 8.60
4 A de novo paradigm for mental retardation. Nat Genet 2010 8.57
5 Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 2004 6.90
6 A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet 2006 5.92
7 De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet 2010 5.72
8 Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet 2003 5.43
9 Identification of common variants associated with human hippocampal and intracranial volumes. Nat Genet 2012 3.73
10 Characterization of a recurrent 15q24 microdeletion syndrome. Hum Mol Genet 2007 3.54
11 Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am J Hum Genet 2010 3.47
12 STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. N Engl J Med 2011 3.11
13 Disease gene identification strategies for exome sequencing. Eur J Hum Genet 2012 2.89
14 Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. Am J Hum Genet 2011 2.69
15 Unlocking Mendelian disease using exome sequencing. Genome Biol 2011 2.62
16 Recurrent CNVs disrupt three candidate genes in schizophrenia patients. Am J Hum Genet 2008 2.61
17 Massively parallel sequencing of ataxia genes after array-based enrichment. Hum Mutat 2010 2.60
18 Next-generation genetic testing for retinitis pigmentosa. Hum Mutat 2012 2.30
19 Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. Am J Hum Genet 2010 2.26
20 Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat Genet 2007 2.16
21 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
22 Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet 2012 2.12
23 De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet 2011 2.09
24 A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Hum Mutat 2013 2.07
25 Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations. Invest Ophthalmol Vis Sci 2010 1.98
26 Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am J Hum Genet 2011 1.98
27 Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Nat Genet 2012 1.90
28 Identification of disease genes by whole genome CGH arrays. Hum Mol Genet 2005 1.85
29 Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture. Hum Mol Genet 2009 1.84
30 Array-based comparative genomic hybridization for the differential diagnosis of renal cell cancer. Cancer Res 2002 1.84
31 OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am J Hum Genet 2009 1.83
32 Accurate distinction of pathogenic from benign CNVs in mental retardation. PLoS Comput Biol 2010 1.75
33 Genomic microarrays in mental retardation: a practical workflow for diagnostic applications. Hum Mutat 2009 1.71
34 De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet 2012 1.70
35 De novo copy number variants associated with intellectual disability have a paternal origin and age bias. J Med Genet 2011 1.69
36 Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map. Am J Med Genet A 2007 1.62
37 Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis. J Med Genet 2009 1.62
38 Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysis. DNA Res 2007 1.60
39 Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. Invest Ophthalmol Vis Sci 2007 1.54
40 Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects. J Med Genet 2012 1.51
41 Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. Am J Hum Genet 2012 1.51
42 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
43 Genome-wide array-based comparative genomic hybridization reveals multiple amplification targets and novel homozygous deletions in pancreatic carcinoma cell lines. Cancer Res 2004 1.49
44 Microarray analyses reveal strong influence of DNA copy number alterations on the transcriptional patterns in pancreatic cancer: implications for the interpretation of genomic amplifications. Oncogene 2005 1.42
45 Loss of a small region around the PTEN locus is a major chromosome 10 alteration in prostate cancer xenografts and cell lines. Genes Chromosomes Cancer 2004 1.41
46 Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Nat Genet 2012 1.40
47 The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. Eur J Hum Genet 2009 1.39
48 Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. J Med Genet 2013 1.39
49 Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy. Am J Hum Genet 2013 1.32
50 Detection of clinically relevant copy number variants with whole-exome sequencing. Hum Mutat 2013 1.32
51 Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study. Hum Mutat 2009 1.30
52 Cantú syndrome is caused by mutations in ABCC9. Am J Hum Genet 2012 1.28
53 Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype. Am J Med Genet A 2008 1.24
54 Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss. Am J Hum Genet 2010 1.23
55 Common variants in DGKK are strongly associated with risk of hypospadias. Nat Genet 2010 1.23
56 Forging links between human mental retardation-associated CNVs and mouse gene knockout models. PLoS Genet 2009 1.23
57 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
58 STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis. PLoS One 2011 1.22
59 Genetic variation in CACNA1C, a gene associated with bipolar disorder, influences brainstem rather than gray matter volume in healthy individuals. Biol Psychiatry 2010 1.19
60 Validation study of existing gene expression signatures for anti-TNF treatment in patients with rheumatoid arthritis. PLoS One 2012 1.19
61 12p-amplicon structure analysis in testicular germ cell tumors of adolescents and adults by array CGH. Oncogene 2003 1.18
62 Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease. Acta Neuropathol 2015 1.18
63 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
64 Understanding variable expressivity in microdeletion syndromes. Nat Genet 2010 1.16
65 Functional differences between mesenchymal stem cell populations are reflected by their transcriptome. Stem Cells Dev 2010 1.14
66 Association of the Alzheimer's gene SORL1 with hippocampal volume in young, healthy adults. Am J Psychiatry 2011 1.13
67 Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. PLoS Genet 2011 1.13
68 Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders. Hum Mol Genet 2013 1.12
69 Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement. Am J Hum Genet 2011 1.12
70 Chromosome 22q11 deletion and pachygyria characterized by array-based comparative genomic hybridization. Am J Med Genet A 2004 1.12
71 Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP. Am J Hum Genet 2011 1.12
72 Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment. Am J Hum Genet 2010 1.11
73 Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. J Med Genet 2013 1.08
74 ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. Proc Natl Acad Sci U S A 2013 1.08
75 Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation. Eur J Hum Genet 2005 1.04
76 An integrated framework of personalized medicine: from individual genomes to participatory health care. Croat Med J 2012 1.03
77 Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA). Am J Med Genet A 2011 1.02
78 Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome. Am J Med Genet A 2007 1.01
79 Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis. Proc Natl Acad Sci U S A 2014 1.00
80 Chromosomal breakpoint mapping by arrayCGH using flow-sorted chromosomes. Biotechniques 2003 0.99
81 Trisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes. Hum Mol Genet 2012 0.99
82 Point mutations as a source of de novo genetic disease. Curr Opin Genet Dev 2013 0.98
83 Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans. Am J Hum Genet 2011 0.97
84 Nuclear receptors Nur77 and Nurr1 modulate mesenchymal stromal cell migration. Stem Cells Dev 2011 0.95
85 Homozygosity mapping in outbred families with mental retardation. Eur J Hum Genet 2011 0.95
86 Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency. Brain 2014 0.95
87 Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome. Blood 2013 0.95
88 Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects. Eur J Hum Genet 2015 0.94
89 Mobster: accurate detection of mobile element insertions in next generation sequencing data. Genome Biol 2014 0.94
90 Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities. Epilepsia 2014 0.93
91 Pyrosequencing of 16S rRNA gene amplicons to study the microbiota in the gastrointestinal tract of carp (Cyprinus carpio L.). AMB Express 2011 0.92
92 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
93 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
94 Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing. Am J Hum Genet 2012 0.90
95 Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1. J Hum Genet 2006 0.89
96 Genome and exome sequencing in the clinic: unbiased genomic approaches with a high diagnostic yield. Pharmacogenomics 2012 0.88
97 A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia. Hum Mol Genet 2012 0.88
98 Exome sequencing and whole genome sequencing for the detection of copy number variation. Expert Rev Mol Diagn 2015 0.85
99 High-resolution genomic microarrays for X-linked mental retardation. Genet Med 2007 0.83
100 Structural genomic variation in intellectual disability. Methods Mol Biol 2012 0.83
101 Analysis of genes regulated by the transcription factor LUMAN identifies ApoA4 as a target gene in dendritic cells. Mol Immunol 2011 0.83
102 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
103 High density gene expression microarrays and gene ontology analysis for identifying processes in implanted tissue engineering constructs. Biomaterials 2010 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 A microduplication of the Rubinstein-Taybi region on 16p13.3 in a girl with a bilateral complete cleft lip and palate and severe mental retardation. Clin Dysmorphol 2012 0.78
106 A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation. Clin Dysmorphol 2006 0.78
107 Amplified segment in the 'Down syndrome critical region' on HSA21 shared between Down syndrome and euploid AML-M0 excludes RUNX1, ERG and ETS2. Br J Haematol 2012 0.78
108 Advantages and Disadvantages of Different Implementation Strategies of Non-Invasive Prenatal Testing in Down Syndrome Screening Programmes. Public Health Genomics 2015 0.77
109 Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation. Am J Med Genet A 2010 0.77
110 Whole-genome array comparative genome hybridization: the preferred diagnostic choice in postnatal clinical cytogenetics. J Mol Diagn 2007 0.76
111 Correction: Exome Sequencing in an Admixed Isolated Population Indicates NFXL1 Variants Confer a Risk for Specific Language Impairment. PLoS Genet 2015 0.75
112 A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia. Am J Med Genet A 2011 0.75