Joris A Veltman

Summary

Affiliation: Radboud University Nijmegen Medical Centre
Country: The Netherlands

Publications

  1. doi request reprint De novo mutations in human genetic disease
    Joris A Veltman
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, PO Box 9101, Nijmegen, The Netherlands
    Nat Rev Genet 13:565-75. 2012
  2. ncbi request reprint Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing
    Janneke H M Schuurs-Hoeijmakers
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    J Med Genet 50:802-11. 2013
  3. pmc A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype
    Zafar Iqbal
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Eur J Hum Genet 21:844-9. 2013
  4. doi request reprint GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila
    Marjolein H Willemsen
    Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands
    J Med Genet 50:507-14. 2013
  5. pmc ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature
    Rob W J Collin
    Department of Human Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, The Netherlands
    Proc Natl Acad Sci U S A 110:9856-61. 2013
  6. pmc Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome
    Janneke H M Schuurs-Hoeijmakers
    Department of Human Genetics 855, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Am J Hum Genet 91:1122-7. 2012
  7. doi request reprint Targeted next generation sequencing reveals a novel intragenic deletion of the TPO gene in a family with intellectual disability
    Zafar Iqbal
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, The Netherlands
    Arch Med Res 43:312-6. 2012
  8. pmc Accurate distinction of pathogenic from benign CNVs in mental retardation
    Jayne Y Hehir-Kwa
    Radboud University Nijmegen Medical Centre, Department of Human Genetics, Nijmegen, The Netherlands
    PLoS Comput Biol 6:e1000752. 2010
  9. ncbi request reprint Genomic microarrays in mental retardation: a practical workflow for diagnostic applications
    David A Koolen
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mutat 30:283-92. 2009
  10. doi request reprint Massively parallel sequencing of ataxia genes after array-based enrichment
    Alexander Hoischen
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mutat 31:494-9. 2010

Detail Information

Publications70

  1. doi request reprint De novo mutations in human genetic disease
    Joris A Veltman
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, PO Box 9101, Nijmegen, The Netherlands
    Nat Rev Genet 13:565-75. 2012
    ..These mutations, although individually rare, may capture a significant part of the heritability for complex genetic diseases that is not detectable by genome-wide association studies...
  2. ncbi request reprint Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing
    Janneke H M Schuurs-Hoeijmakers
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    J Med Genet 50:802-11. 2013
    ..Mutations in more than 10% of all human genes are considered to be involved in this disorder, although the majority of these genes are still unknown...
  3. pmc A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype
    Zafar Iqbal
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Eur J Hum Genet 21:844-9. 2013
    ..Our results show that the clinical spectrum of DPAGT1-CDG is much broader than appreciated so far. ..
  4. doi request reprint GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila
    Marjolein H Willemsen
    Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands
    J Med Genet 50:507-14. 2013
    ..We recently identified two de novo loss-of-function mutations in GATAD2B by whole exome sequencing in two unrelated individuals with severe intellectual disability...
  5. pmc ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature
    Rob W J Collin
    Department of Human Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, The Netherlands
    Proc Natl Acad Sci U S A 110:9856-61. 2013
    ..His455Tyr mutant ZNF408. Together, our data strongly suggest that mutant ZNF408 results in abnormal retinal vasculogenesis in humans and is associated with FEVR...
  6. pmc Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome
    Janneke H M Schuurs-Hoeijmakers
    Department of Human Genetics 855, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Am J Hum Genet 91:1122-7. 2012
    ..Our findings suggest that PACS1 is necessary for the formation of craniofacial structures and that perturbation of its functions results in a specific syndromic ID phenotype...
  7. doi request reprint Targeted next generation sequencing reveals a novel intragenic deletion of the TPO gene in a family with intellectual disability
    Zafar Iqbal
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, The Netherlands
    Arch Med Res 43:312-6. 2012
    ..In the present study we investigated a consanguineous Pakistani family with intellectual disability (ID)...
  8. pmc Accurate distinction of pathogenic from benign CNVs in mental retardation
    Jayne Y Hehir-Kwa
    Radboud University Nijmegen Medical Centre, Department of Human Genetics, Nijmegen, The Netherlands
    PLoS Comput Biol 6:e1000752. 2010
    ..These results indicate that this classification method will be of value for objectively prioritizing CNVs in clinical research and diagnostics...
  9. ncbi request reprint Genomic microarrays in mental retardation: a practical workflow for diagnostic applications
    David A Koolen
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mutat 30:283-92. 2009
    ..2% (71.9% losses, 19.6% gains, 8.5% complex) could be identified, reflecting the overall diagnostic yield of clinically significant CNVs in individuals with unexplained mental retardation...
  10. doi request reprint Massively parallel sequencing of ataxia genes after array-based enrichment
    Alexander Hoischen
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mutat 31:494-9. 2010
    ..We conclude that massive parallel sequencing of enriched samples enables personalized diagnosis of heterogeneous genetic disorders and qualifies for rapid diagnostic implementation...
  11. pmc Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome
    Christian Gilissen
    Department of Human Genetics, Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, The Netherlands
    Am J Hum Genet 87:418-23. 2010
    ..WDR35 is homologous to TULP4 (from the Tubby superfamily) and has previously been characterized as an intraflagellar transport component, confirming that Sensenbrenner syndrome is a ciliary disorder...
  12. doi request reprint Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype
    Marielle E M Swinkels
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen Centre of Molecular Life Sciences, Nijmegen, The Netherlands
    Am J Med Genet A 146:1430-8. 2008
    ..Sequence analysis of this gene in nine additional patients with isolated trigonocephaly did not reveal any pathogenic mutations...
  13. doi request reprint De novo copy number variants associated with intellectual disability have a paternal origin and age bias
    Jayne Y Hehir-Kwa
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    J Med Genet 48:776-8. 2011
    ..Insight into the genomic and environmental factors predisposing to the generation of these de novo events is therefore of significant clinical importance...
  14. doi request reprint A de novo paradigm for mental retardation
    Lisenka E L M Vissers
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Nat Genet 42:1109-12. 2010
    ..Together with de novo copy number variation, de novo point mutations of large effect could explain the majority of all mental retardation cases in the population...
  15. pmc Next-generation genetic testing for retinitis pigmentosa
    Kornelia Neveling
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mutat 33:963-72. 2012
    ..De novo dominant mutations appear to play a significant role in patients with isolated RP, having major implications for genetic counselling...
  16. pmc Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy
    Kornelia Neveling
    Department of Human Genetics, Radboud University Medical Centre, 6525 GA Nijmegen, The Netherlands Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, 6525 GA Nijmegen, The Netherlands
    Am J Hum Genet 92:946-54. 2013
    ..These data emphasize the relevance of BICD2 in synaptic-vesicle recycling and support the conclusion that BICD2 mutations cause congenital slowly progressive dominant SMA...
  17. doi request reprint A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia
    Radek Szklarczyk
    Centre for Molecular and Biomolecular Informatics, Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen 6500HB, The Netherlands
    Hum Mol Genet 22:656-67. 2013
    ..These results establish the function of the human gene FAM36A/COX20 in complex IV assembly and support a causal role of the gene in complex IV deficiency...
  18. doi request reprint Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis
    Lisenka E L M Vissers
    Department of Human Genetics 855, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, PO Box 9101, Nijmegen 6500 HB, The Netherlands
    J Med Genet 47:289-97. 2010
    ..In addition, a future prospect is provided for the detection of disease causing mutations and structural variants by next generation sequencing technologies...
  19. doi request reprint De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome
    Alexander Hoischen
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Nat Genet 43:729-31. 2011
    ..In total, 7 out of 13 subjects with a Bohring-Opitz phenotype had de novo ASXL1 mutations, suggesting that the syndrome is genetically heterogeneous...
  20. doi request reprint Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation
    Dorien Lugtenberg
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Med Genet A 152:638-45. 2010
    ..9-fold lower frequency of ZNF630 duplications was observed in patients, which was not significant either (P-value = 0.163). These data do not show that ZNF630 deletions or duplications are associated with mental retardation...
  21. pmc Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans
    Ilse Feenstra
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Hum Genet 89:813-9. 2011
    ..Trp241X) and c.946_947delinsA (p.Pro316ThrfsX16), and both mutations predicted a loss of function. Together, these results demonstrate that hemizygosity of TSHZ1 leads to congenital aural atresia as a result of haploinsufficiency...
  22. ncbi request reprint De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
    Alexander Hoischen
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Nat Genet 42:483-5. 2010
    ..We also identified SETBP1 mutations in eight additional cases using Sanger sequencing. All mutations clustered to a highly conserved 11-bp exonic region, suggesting a dominant-negative or gain-of-function effect...
  23. pmc Homozygosity mapping in outbred families with mental retardation
    Janneke H M Schuurs-Hoeijmakers
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Eur J Hum Genet 19:597-601. 2011
    ..9 Mb (98 genes) in common with the 5.4 Mb MRT11 locus (195 genes). These data support that homozygosity mapping in outbred families may contribute to identification of novel AR-MR genes...
  24. ncbi request reprint A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases
    Kornelia Neveling
    Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands
    Hum Mutat 34:1721-6. 2013
    ..Even if all genes that could have been ordered by physicians had been tested, the larger number of genes captured by the exome would still have led to a clearly superior diagnostic yield at a fraction of the cost. ..
  25. doi request reprint Diagnostic exome sequencing in persons with severe intellectual disability
    Joep de Ligt
    Department of Human Genetics, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    N Engl J Med 367:1921-9. 2012
    ..The causes of intellectual disability remain largely unknown because of extensive clinical and genetic heterogeneity...
  26. pmc STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis
    Sanne P Smeekens
    Department of Medicine, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    PLoS ONE 6:e29248. 2011
    ..The challenge for the future is to translate this knowledge into novel strategies for the treatment of this severe immunodeficiency...
  27. ncbi request reprint Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map
    Ilse Feenstra
    Department of Human Genetics, University Medical Centre Nijmegen, Nijmegen, The Netherlands
    Am J Med Genet A 143:1858-67. 2007
    ..3 Mb located within 18q22.3-q23. Molecular characterization of more patients will ultimately lead to a further delineation of the critical regions and thus to the identification of candidate genes for these specific traits...
  28. doi request reprint Association of the Alzheimer's gene SORL1 with hippocampal volume in young, healthy adults
    Janita Bralten
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands
    Am J Psychiatry 168:1083-9. 2011
    ....
  29. ncbi request reprint Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays
    Anneke I den Hollander
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Invest Ophthalmol Vis Sci 48:5690-8. 2007
    ..Thus far, mutations in 13 genes have been associated with autosomal recessive LCA and juvenile RP. The purpose of this study was to use homozygosity mapping to identify mutations in known LCA and juvenile RP genes...
  30. pmc Recurrent CNVs disrupt three candidate genes in schizophrenia patients
    Terry Vrijenhoek
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    Am J Hum Genet 83:504-10. 2008
    ..Our study supports a role for rare CNVs in schizophrenia susceptibility and identifies at least three candidate genes for this complex disorder...
  31. doi request reprint Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders
    Zafar Iqbal
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Donders Institute for Brain, Cognitionand Behaviour, Radboud University Medical Centre, Nijmegen, TheNetherlands
    Hum Mol Genet 22:1960-70. 2013
    ..In addition, our findings support the suggested association of ANK3 with various neuropsychiatric disorders and illustrate the genetic and molecular relation between a wide range of neurodevelopmental disorders...
  32. doi request reprint Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture
    Lisenka E L M Vissers
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mol Genet 18:3579-93. 2009
    ..These data suggest that rare pathogenic microdeletions and tandem duplications do not occur at random genome sequences, but are stimulated and potentially catalyzed by various genomic architectural features...
  33. pmc Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy
    Konstantinos Nikopoulos
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Hum Genet 86:240-7. 2010
    ..Furthermore, we demonstrate the power of targeted next-generation sequencing technology to identify disease genes in linkage intervals...
  34. ncbi request reprint Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency
    Monique van Scherpenzeel
    1 Laboratory of Genetic, Endocrine and Metabolic Diseases, Radboud University Medical Centre, Nijmegen, The Netherlands
    Brain 137:1030-8. 2014
    ..In addition, it provides a functional confirmation of MAN1B1 mutations as identified by next-generation sequencing in individuals with intellectual disability. ..
  35. pmc Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems
    Anneke T Vulto-van Silfhout
    Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands
    Am J Hum Genet 94:649-61. 2014
    ..Our results demonstrate that mutations in DEAF1 cause ID and behavioral problems, most likely as a result of impaired transcriptional regulation by DEAF1. ..
  36. pmc Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis
    Wybrich R Cnossen
    Departments of Gastroenterology and Hepatology and Human Genetics and Center for Molecular and Biomolecular Informatics, Institute for Genetic and Metabolic Disease, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands
    Proc Natl Acad Sci U S A 111:5343-8. 2014
    ..The findings presented in this study link the pathophysiology of PCLD to deregulation of the canonical wingless signaling pathway. ..
  37. pmc Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia
    Janneke H M Schuurs-Hoeijmakers
    Department of Human Genetics 855, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Am J Hum Genet 91:1073-81. 2012
    ..We show that mutations in DDHD2 cause a specific complex HSP subtype (SPG54), thereby linking a member of the PLA(1) family to human neurologic disease...
  38. doi request reprint Analysis of genes regulated by the transcription factor LUMAN identifies ApoA4 as a target gene in dendritic cells
    Anna Sanecka
    Department of Tumor Immunology, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Mol Immunol 50:66-73. 2012
    ..Subsequent validation experiments, bioinformatics-based promoter analysis, and silencing studies confirmed that ApoA4 is a true target gene of LUMAN in bone marrow-derived DCs (BMDCs)...
  39. pmc Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability
    Tjitske Kleefstra
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands
    Am J Hum Genet 91:73-82. 2012
    ..We propose a highly conserved epigenetic network that underlies cognition in health and disease. This network should allow the design of strategies to treat the growing group of ID pathologies that are caused by epigenetic defects...
  40. doi request reprint Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome
    David A Koolen
    Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Nat Genet 44:639-41. 2012
    ..RNA sequencing studies in cell lines derived from affected individuals and the presence of learning deficits in Drosophila melanogaster mutants suggest a role for KANSL1 in neuronal processes...
  41. pmc Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice
    Lisenka E L M Vissers
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    PLoS Genet 7:e1002278. 2011
    ..Furthermore, we present Frem1 mutant mice as the first bona fide mouse model of human metopic craniosynostosis and a new model for midfacial hypoplasia...
  42. pmc Unlocking Mendelian disease using exome sequencing
    Christian Gilissen
    Department of Human Genetics, Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    Genome Biol 12:228. 2011
    ..Exome sequencing is revolutionizing Mendelian disease gene identification. This results in improved clinical diagnosis, more accurate genotype-phenotype correlations and new insights into the role of rare genomic variation in disease...
  43. ncbi request reprint High-resolution genomic microarrays for X-linked mental retardation
    Dorien Lugtenberg
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Genet Med 9:560-5. 2007
    ..In this review, we describe the developments in this field and specifically highlight the impact of these microarray studies in the field of X-linked mental retardation...
  44. doi request reprint Detection of clinically relevant copy number variants with whole-exome sequencing
    Joep de Ligt
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, 6500 HB, The Netherlands
    Hum Mutat 34:1439-48. 2013
    ..The combined detection of point mutations, indels, and CNVs makes WES a very attractive first-tier diagnostic test for genetically heterogeneous disorders. ..
  45. pmc Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment
    Margit Schraders
    Department of Otorhinolaryngology, Head and Neck Surgery, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, Radboud University Nijmegen, Nijmegen, The Netherlands
    Am J Hum Genet 86:138-47. 2010
    ..Quantitative analysis of GRXCR1 transcripts in fetal and adult human tissues revealed a preferential expression of the gene in fetal cochlea, which may explain the nonsyndromic nature of the hearing impairment...
  46. doi request reprint High density gene expression microarrays and gene ontology analysis for identifying processes in implanted tissue engineering constructs
    Gerwen Lammers
    Department of Biochemistry 280, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Biomaterials 31:8299-312. 2010
    ..However, challenges remain e.g. with regards to the development of specific GO-terms and annotation of the (rat) genome...
  47. doi request reprint Functional differences between mesenchymal stem cell populations are reflected by their transcriptome
    Bastiaan J H Jansen
    Department of Tumor Immunology, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Stem Cells Dev 19:481-90. 2010
    ..Furthermore, these differences indicate a demand for effective differentiation protocols tailored to each stem cell type...
  48. pmc Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP
    Lisenka E L M Vissers
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Hum Genet 88:608-15. 2011
    ....
  49. pmc Cantú syndrome is caused by mutations in ABCC9
    Bregje W M van Bon
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, The Netherlands
    Am J Hum Genet 90:1094-101. 2012
    ..These findings identify the genetic basis of Cantú syndrome and suggest that this is a new member of the potassium channelopathies...
  50. pmc The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype
    Bregje W M van Bon
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Eur J Hum Genet 18:163-70. 2010
    ..1 microdeletion present with a variable phenotype and the diagnosis should be considered in mentally retarded children with coarse facies, seizures, disturbed sleeping patterns and additional specific behavioural problems...
  51. pmc 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
    Jayne Y Hehir-Kwa
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    DNA Res 14:1-11. 2007
    ..These analyses provide a first objective insight into the true capacities and limitations of different genomic microarrays to detect and define DNA copy-number variations...
  52. doi request reprint Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects
    Marjolein H Willemsen
    Radboud University Nijmegen Medical Centre, Department of Human Genetics, Nijmegen, The Netherlands
    J Med Genet 49:179-83. 2012
    ..Furthermore, it interacts with the LIS1 gene of which haploinsufficiency causes a severe neuronal migration disorder in humans, known as classical lissencephaly or Miller-Dieker syndrome...
  53. pmc Disease gene identification strategies for exome sequencing
    Christian Gilissen
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Eur J Hum Genet 20:490-7. 2012
    ..Exome sequencing is likely to become the most commonly used tool for Mendelian disease gene identification for the coming years...
  54. doi request reprint Structural genomic variation in intellectual disability
    Rolph Pfundt
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Methods Mol Biol 838:77-95. 2012
    ..In addition, a detailed protocol is provided for the diagnostic interpretation of copy-number variations in mental retardation...
  55. doi request reprint Point mutations as a source of de novo genetic disease
    Joep de Ligt
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Curr Opin Genet Dev 23:257-63. 2013
    ..In addition, we will discuss the human per-generation mutation rate, its relation to advanced paternal age and how these factors affect the frequency of genetic disease caused by de novo events. ..
  56. pmc Diagnostic genome profiling: unbiased whole genome or targeted analysis?
    Joris A Veltman
    Department of Human Genetics 855, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    J Mol Diagn 8:534-7; discussion 537-9. 2006
  57. pmc Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome
    Zafar Iqbal
    Department of Human Genetics 855, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Hum Genet 86:254-61. 2010
    ..Interestingly however, dermal fibroblasts from one of the individuals without an SH3PXD2B mutation nevertheless expressed lower levels of the TKS4 protein, suggesting a common mechanism underlying disease causation...
  58. ncbi request reprint Genomic copy number analysis in mental retardation: finding the needles in the haystack
    Joris A Veltman
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, Nijmegen 6500 HB, The Netherlands
    Eur J Hum Genet 15:1-2. 2007
  59. pmc Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement
    Alejandro Estrada-Cuzcano
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands
    Am J Hum Genet 90:102-9. 2012
    ..The two CRD siblings with the c.156-2A>G mutation also showed unilateral postaxial polydactyly. These results underline the importance of disrupted ciliary processes in the pathogenesis of retinal dystrophies...
  60. doi request reprint STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis
    Frank L van de Veerdonk
    Department of Medicine, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    N Engl J Med 365:54-61. 2011
    ..Patients with recessive CMC and autoimmunity have mutations in the autoimmune regulator AIRE. The cause of autosomal dominant CMC is unknown...
  61. doi request reprint Genetic variation in CACNA1C, a gene associated with bipolar disorder, influences brainstem rather than gray matter volume in healthy individuals
    Barbara Franke
    Department of Human Genetics, Institute for Genetic and Metabolic Disorders, Center for Neuroscience, Radboud University Nijmegen Medical Center, The Netherlands
    Biol Psychiatry 68:586-8. 2010
    ..To elucidate the mechanisms by which such effects on psychiatric disease are brought about by genetic factors, we investigated the influence of CACNA1C polymorphisms on brain structure...
  62. pmc Validation study of existing gene expression signatures for anti-TNF treatment in patients with rheumatoid arthritis
    Erik J M Toonen
    Department of Medicine, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    PLoS ONE 7:e33199. 2012
    ..Our results confirm that gene expression profiling prior to treatment is a useful tool to predict anti-TNF (non) response...
  63. doi request reprint Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness
    Saskia B Wortmann
    Department of Pediatrics, Radboud University Nijmegen Medical Centre RUNMC, Nijmegen, The Netherlands
    Nat Genet 44:797-802. 2012
    ..Our data identify SERAC1 as a key player in the phosphatidylglycerol remodeling that is essential for both mitochondrial function and intracellular cholesterol trafficking...
  64. doi request reprint Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA)
    Lisenka E L M Vissers
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Nijmegen, Netherlands
    Am J Med Genet A 155:2609-16. 2011
    ..Thus, somatic mutations in IDH1 may explain all features of MC-HGA, including sporadic occurrence, metaphyseal disorganization, and chondromatosis, urinary excretion of D-2-hydroxy-glutaric acid, and reduced cerebral myelinization...
  65. doi request reprint Common variants in DGKK are strongly associated with risk of hypospadias
    Loes F M van der Zanden
    Department of Epidemiology, Biostatistics and HTA, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Nat Genet 43:48-50. 2011
    ..Expression studies showed expression of DGKK in preputial tissue of cases and controls, which was lower in carriers of the risk allele of rs1934179 (P = 0.047). We propose DGKK as a major risk gene for hypospadias...
  66. pmc Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan
    Tony Roscioli
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Nat Genet 44:581-5. 2012
    ..These results implicate ISPD in a-dystroglycan glycosylation in maintaining sarcolemma integrity in vertebrates...
  67. ncbi request reprint Genomic microarrays in clinical diagnosis
    Joris A Veltman
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Curr Opin Pediatr 18:598-603. 2006
    ..This review describes the various genomic microarray approaches that have been developed for molecular cytogenetic purposes and their implementation in a routine clinical diagnostic setting...
  68. ncbi request reprint Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1
    David A Koolen
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, 9101, 6500 HB, Nijmegen, The Netherlands
    J Hum Genet 51:721-6. 2006
    ..Additional research is needed to further establish the role of genes from the 5q35.1 region in brain and limb development and to determine the prevalence of copy number gain in the 5q35.1 region among HPE patients...
  69. ncbi request reprint Understanding variable expressivity in microdeletion syndromes
    Joris A Veltman
    Joris A Veltman and Han G Brunner are in the Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and the Institute for Genetic and Metabolic Diseases, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Nat Genet 42:192-3. 2010
    ..1. The work highlights the complex relationship between genotype and phenotype and provides a model to explain the clinical variability associated with this and other common microdeletion syndromes...
  70. ncbi request reprint A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism
    David A Koolen
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    Nat Genet 38:999-1001. 2006
    ..The deletions encompass the MAPT and CRHR1 genes and are associated with a common inversion polymorphism...