Han G Brunner

Summary

Affiliation: Radboud University Nijmegen Medical Centre
Country: The Netherlands

Publications

  1. 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
  2. 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
  3. pmc Bioinformatics methods for identifying candidate disease genes
    Marc A van Driel
    Molecular Biology Department, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands
    Hum Genomics 2:429-32. 2006
  4. ncbi request reprint From syndrome families to functional genomics
    Han G Brunner
    Department of Human Genetics, University Hospital, University of Nijmegen, Geert Grooteplein 20, 6525GA Nijmegen, The Netherlands
    Nat Rev Genet 5:545-51. 2004
  5. ncbi request reprint Genetic players in esophageal atresia and tracheoesophageal fistula
    Han G Brunner
    Radboud University Nijmegen Medical Center, Department of Human Genetics 417, Geert Grooteplein 20, 6525GA Nijmegen, The Netherlands
    Curr Opin Genet Dev 15:341-7. 2005
  6. ncbi request reprint Pathogenesis of split-hand/split-foot malformation
    Pascal H G Duijf
    Department of Human Genetics 417, University Medical Centre Nijmegen, Box 9101, 6500 HB Nijmegen, The Netherlands
    Hum Mol Genet 12:R51-60. 2003
  7. ncbi request reprint MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation
    Ersan Kalay
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Med Genet A 143:2382-9. 2007
  8. 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
  9. pmc Splitting p63
    Hans van Bokhoven
    Department of Human Genetics, University Medical Centre Nijmegen, The Netherlands
    Am J Hum Genet 71:1-13. 2002
  10. ncbi request reprint Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability
    Marjolijn C J Jongmans
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Med Genet A 146:43-50. 2008

Detail Information

Publications106 found, 100 shown here

  1. 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...
  2. 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...
  3. pmc Bioinformatics methods for identifying candidate disease genes
    Marc A van Driel
    Molecular Biology Department, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands
    Hum Genomics 2:429-32. 2006
    ..Such in silico prioritisation methods may further improve by completion of datasets, by development of standardised ontologies across databases and species and, ultimately, by the integration of different strategies...
  4. ncbi request reprint From syndrome families to functional genomics
    Han G Brunner
    Department of Human Genetics, University Hospital, University of Nijmegen, Geert Grooteplein 20, 6525GA Nijmegen, The Netherlands
    Nat Rev Genet 5:545-51. 2004
  5. ncbi request reprint Genetic players in esophageal atresia and tracheoesophageal fistula
    Han G Brunner
    Radboud University Nijmegen Medical Center, Department of Human Genetics 417, Geert Grooteplein 20, 6525GA Nijmegen, The Netherlands
    Curr Opin Genet Dev 15:341-7. 2005
    ..NMYC and SOX2 are transcription factors, whereas CHD7 is encoded by a chromodomain helicase DNA-binding gene, important for chromatin structure and gene expression. These new genes broaden our view of human foregut development...
  6. ncbi request reprint Pathogenesis of split-hand/split-foot malformation
    Pascal H G Duijf
    Department of Human Genetics 417, University Medical Centre Nijmegen, Box 9101, 6500 HB Nijmegen, The Netherlands
    Hum Mol Genet 12:R51-60. 2003
    ..The identification of novel human and mouse mutations for ectrodactyly will enhance our understanding of AER functions and the pathogenesis of ectrodactyly...
  7. ncbi request reprint MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation
    Ersan Kalay
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Med Genet A 143:2382-9. 2007
    ....
  8. 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...
  9. pmc Splitting p63
    Hans van Bokhoven
    Department of Human Genetics, University Medical Centre Nijmegen, The Netherlands
    Am J Hum Genet 71:1-13. 2002
    ..The distribution of mutations over the various p63 protein domains and the structural and functional implications of these mutations establish a clear genotype-phenotype correlation...
  10. ncbi request reprint Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability
    Marjolijn C J Jongmans
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Med Genet A 146:43-50. 2008
    ..These two families showed parent-to-child transmission. Phenotypically milder forms of CHARGE syndrome have a higher risk of transmission to multiple family members...
  11. pmc Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome
    Jeroen van Reeuwijk
    Department of Human Genetics 855, Radboud University Nijmegen Medical Center, Box 9101, 6500 HB Nijmegen, The Netherlands
    Hum Genet 121:685-90. 2007
    ..This finding demonstrates that LARGE gene mutations can give rise to a wide clinical spectrum, similar as for other genes that have a role in the post-translational modification of the alpha-dystroglycan protein...
  12. doi request reprint C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome
    Heleen H Arts
    Department of Human Genetics 855, Radboud University Nijmegen Medical Centre, Geert Grooteplein zuid 10, 6525 GA, Nijmegen, The Netherlands
    J Med Genet 48:390-5. 2011
    ..Sensenbrenner syndrome is a heterogeneous ciliopathy that is characterised by skeletal and ectodermal anomalies, accompanied by chronic renal failure, heart defects, liver fibrosis and other features...
  13. pmc Conserved co-expression for candidate disease gene prioritization
    Martin Oti
    Centre for Molecular and Biomolecular Informatics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Geert Grooteplein 26 28, 6525 GA, Nijmegen, The Netherlands
    BMC Bioinformatics 9:208. 2008
    ..Here we examine whether co-expression across multiple species is also a better prioritizer of disease genes than is co-expression between human genes alone...
  14. 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...
  15. 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
    ....
  16. 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...
  17. ncbi request reprint The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation
    Jeroen van Reeuwijk
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mutat 27:453-9. 2006
    ..Our data suggest the existence of a disease spectrum of CMD including brain and eye abnormalities resulting from POMT1 mutations...
  18. ncbi request reprint Nucleotide variation analysis does not support a causal role for plexin-A1 in hereditary congenital facial paresis
    Bert van der Zwaag
    Department of Neurology, University Medical Centre Nijmegen, P O Box 9101, 6500 HB, Nijmegen, The Netherlands
    Brain Res Dev Brain Res 158:66-71. 2005
    ..We therefore conclude that it is highly unlikely that Plexin-A1 is involved in the pathogenicity of hereditary congenital facial paresis...
  19. doi request reprint Genotype-phenotype correlations in MYCN-related Feingold syndrome
    Carlo L M Marcelis
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mutat 29:1125-32. 2008
    ..We suggest that the presence of brachymesophalangy and toe syndactyly in combination with microcephaly is enough to justify MYCN analysis...
  20. 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...
  21. pmc The biological coherence of human phenome databases
    Martin Oti
    Centre for Molecular and Biomolecular Informatics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Geert Grooteplein 26 28, 6525 GA Nijmegen, The Netherlands
    Am J Hum Genet 85:801-8. 2009
    ..More generally, we propose that curation and more systematic annotation of human phenome databases can greatly improve the power of the phenotype for genetic disease analysis...
  22. 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...
  23. ncbi request reprint P63 gene mutations and human developmental syndromes
    Han G Brunner
    Department of Human Genetics, University Medical Center, Nijmegen, The Netherlands
    Am J Med Genet 112:284-90. 2002
    ..Consistent with this syndrome-specific mutational pattern, the functional consequences of mutations on the p63 proteins also vary, invoking dominant-negative and gain-of-function mechanisms rather than a simple loss of function...
  24. ncbi request reprint Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
    Lisenka E L M Vissers
    Department of Human Genetics, University Medical Center Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Nat Genet 36:955-7. 2004
    ..Sequence analysis of genes located in this region detected mutations in the gene CHD7 in 10 of 17 individuals with CHARGE syndrome without microdeletions, accounting for the disease in most affected individuals...
  25. doi request reprint Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1
    Marjolijn J L Ligtenberg
    Department of Human Genetics 849, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Nat Genet 41:112-7. 2009
    ..Depending on the expression pattern of the neighboring gene that lacks its normal polyadenylation signal, this may cause either generalized or mosaic patterns of epigenetic inactivation...
  26. ncbi request reprint Clinical significance of de novo and inherited copy-number variation
    Anneke T Vulto-van Silfhout
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Medical Centre, Nijmegen, The Netherlands
    Hum Mutat 34:1679-87. 2013
    ..001), pointing to a combinatorial effect of the additional CNVs. In addition, we identified 20 de novo single-gene CNVs that directly indicate novel genes for ID/MCA, including ZFHX4, ANKH, DLG2, MPP7, CEP89, TRIO, ASTN2, and PIK3C3. ..
  27. 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...
  28. 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...
  29. ncbi request reprint A text-mining analysis of the human phenome
    Marc A van Driel
    Centre for Molecular and Biomolecular Informatics, Radboud University Nijmegen, Toernooiveld 1, 6525ED Nijmegen, The Netherlands
    Eur J Hum Genet 14:535-42. 2006
    ..Such predictions will further improve if a unified system of phenotype descriptors is developed. The phenotype similarity data are accessible through a web interface at http://www.cmbi.ru.nl/MimMiner/...
  30. ncbi request reprint Sequence analysis of the PLEXIN-D1 gene in Möbius syndrome patients
    Bert van der Zwaag
    Department of Neurology, Nijmegen, The Netherlands
    Pediatr Neurol 31:114-8. 2004
    ..Taken together, these results lead to the exclusion of the PLEXIN-D1 gene as the causative gene in Möbius syndrome 2, and in isolated Möbius syndrome...
  31. 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...
  32. 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. ..
  33. ncbi request reprint A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes
    Tuula Rinne
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    Hum Mol Genet 17:1968-77. 2008
    ....
  34. 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...
  35. 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...
  36. 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...
  37. 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...
  38. 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...
  39. ncbi request reprint Expanding phenotype of XNP mutations: mild to moderate mental retardation
    Helger G Yntema
    Department of Human Genetics, University Medical Centre, Nijmegen, The Netherlands
    Am J Med Genet 110:243-7. 2002
    ..These results expand the spectrum of clinical phenotypes known to be due to mutations in the XNP gene, and indicate that XNP mutation analysis should not be restricted to patients with severe MR and characteristic facial features...
  40. 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...
  41. pmc A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome
    Sonja A de Munnik
    Department of Human Genetics, Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands
    Eur J Hum Genet 22:844-6. 2014
    ..The findings in this patient with a mutation in ZBTB18 will contribute to our understanding of the 1q43q44 microdeletion syndrome. ..
  42. ncbi request reprint More breast cancer patients prefer BRCA-mutation testing without prior face-to-face genetic counseling
    Aisha S Sie
    Department of Human Genetics 836, Radboud University Medical Centre, PO Box 9101, 6500 HB, Nijmegen, The Netherlands
    Fam Cancer 13:143-51. 2014
    ..In conclusion, more BC patients preferred DNA-direct over intake consultation prior to BRCA-mutation testing, the majority being strongly to moderately satisfied with the procedure followed, without increased distress...
  43. pmc Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus
    Evelyn N Kouwenhoven
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    PLoS Genet 6:e1001065. 2010
    ..These data provide a proof-of-concept that the catalogue of p63 binding sites identified in this study may be of relevance to the studies of SHFM and other congenital malformations that resemble the p63-associated phenotypes...
  44. ncbi request reprint Identification of disease genes by whole genome CGH arrays
    Lisenka E L M Vissers
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, PO Box 9101 6500 HB Nijmegen, The Netherlands
    Hum Mol Genet 14:R215-23. 2005
    ..We expect that, ultimately, genomic copy number scanning of all 250,000 exons in the human genome will enable immediate disease gene discovery in cases exhibiting single exon duplications and/or deletions...
  45. ncbi request reprint Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment
    Rob W J Collin
    Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mutat 28:718-23. 2007
    ..Together, our data indicate that also nonsense mutations in DFNB59 cause nonsyndromic hearing loss, but that mutations in DFNB59 are not a major cause of nonsyndromic hearing impairment in the Turkish and Dutch population...
  46. 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...
  47. pmc Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2
    Carolien M Kets
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Eur J Hum Genet 17:159-64. 2009
    ..Met1?) should not be considered as a regular pathogenic mutation that leads to a strongly increased cancer risk, though it possibly contributes to a more severe phenotype when combined with a truncating mutation on the other allele...
  48. ncbi request reprint MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome
    Hans van Bokhoven
    Department of Human Genetics, Radboud University Nijmegen Medical Center, Box 9101, 6500 HB, Nijmegen, The Netherlands
    Nat Genet 37:465-7. 2005
    ..All mutations are predicted to disrupt both the full-length protein and a new shortened MYCN isoform, suggesting that multiple aspects of early embryogenesis and postnatal brain growth in humans are tightly regulated by MYCN dosage...
  49. ncbi request reprint Early presentation of cystic kidneys in a family with a homozygous INVS mutation
    Machteld M Oud
    Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands Radboud Institute for Health Sciences, Radboud University Medical Centre, Nijmegen, the Netherlands Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands
    Am J Med Genet A 164:1627-34. 2014
    ..We also identified that the fetuses had mild skeletal abnormalities, including shortening and bowing of long bones, which may expand the phenotypic spectrum associated with INVS mutations. © 2014 Wiley Periodicals, Inc. ..
  50. doi request reprint Status quo of annotation of human disease variants
    Hanka Venselaar
    CMBI, NCMLS, Radboud University Nijmegen Medical Centre, Nijmegen, PO Box 9101, Nijmegen, HB 6500, The Netherlands
    BMC Bioinformatics 14:352. 2013
    ..This percentage is rapidly increasing so that we can expect to analyse the majority of all human exome variants in the near future using protein structure information...
  51. 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...
  52. ncbi request reprint Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene
    Tuula Rinne
    1Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Eur J Hum Genet 14:904-10. 2006
    ..In addition, we have documented a gain-of-function effect on the dNp63gamma isoform caused by this mutation. We discuss the possible relevance of oral squamous cell carcinoma in one patient, who carries this p63 germline mutation...
  53. pmc Mutations in MED12 cause X-linked Ohdo syndrome
    Anneke T Vulto-van Silfhout
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Hum Genet 92:401-6. 2013
    ..Together with the recently described KAT6B mutations resulting in Ohdo syndrome Say/Barber/Biesecker/Young/Simpson type, our findings point to aberrant chromatin modification as being central to the pathogenesis of Ohdo syndrome...
  54. 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...
  55. pmc DNA-testing for BRCA1/2 prior to genetic counselling in patients with breast cancer: design of an intervention study, DNA-direct
    Aisha S Sie
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    BMC Womens Health 12:12. 2012
    ....
  56. ncbi request reprint Pattern of p63 mutations and their phenotypes--update
    Tuula Rinne
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    Am J Med Genet A 140:1396-406. 2006
    ..This is illustrated by the different phenotypes that are seen for the five-hotspot mutations that explain almost 90% of all EEC syndrome patients...
  57. doi request reprint Female BRCA mutation carriers with a preference for prophylactic mastectomy are more likely to participate an educational-support group and to proceed with the preferred intervention within 2 years
    Karin M Landsbergen
    Department of Human Genetics, Raboud University Nijmegen Medical Centre, Geert Grooteplein zuid 10, 6525 GA Nijmegen, The Netherlands
    Fam Cancer 9:213-20. 2010
    ..The study provides presumptive evidence that educational-support group participants decide to undergo prophylactic mastectomy earlier than non-attendees...
  58. doi request reprint CR1 genotype is associated with entorhinal cortex volume in young healthy adults
    Janita Bralten
    Radboud University Nijmegen, Donders Institute for Brain, Cognition and Behavior, Centre for Cognitive Neuroimaging, Nijmegen, The Netherlands
    Neurobiol Aging 32:2106.e7-11. 2011
    ..This association, apparent in young healthy adults, might mediate susceptibility for Alzheimer's disease later in life...
  59. 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...
  60. 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...
  61. 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...
  62. ncbi request reprint Feingold syndrome: clinical review and genetic mapping
    Jacopo Celli
    University Medical Center Nijmegen, Department of Human Genetics, Nijmegen, The Netherlands
    Am J Med Genet A 122:294-300. 2003
    ....
  63. pmc Diagnostic genome profiling in mental retardation
    Bert B A de Vries
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Hum Genet 77:606-16. 2005
    ..Our results indicate that the diagnostic yield of this approach in the general population of patients with MR is at least twice as high as that of standard GTG-banded karyotyping...
  64. ncbi request reprint Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss
    Ersan Kalay
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mutat 27:633-9. 2006
    ..Mutation screening of the LHFPL5 homologs LHFPL3 and LHFPL4 did not reveal any disease causing mutation. Our findings indicate that LHFPL5 is essential for normal function of the human cochlea...
  65. 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. ..
  66. 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...
  67. 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...
  68. 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
    ....
  69. 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...
  70. pmc Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis
    Anneke I den Hollander
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    Am J Hum Genet 79:556-61. 2006
    ..CEP290 mutations therefore represent one of the most frequent causes of LCA identified so far...
  71. ncbi request reprint Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants
    Arijit Mukhopadhyay
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands
    Invest Ophthalmol Vis Sci 47:3565-72. 2006
    ..We investigated whether CSPG2/Versican was mutated in six Dutch families and one Chinese family with Wagner disease and in a family with ERVR...
  72. pmc Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome
    Tjitske Kleefstra
    Department of Human Genetics 849, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Am J Hum Genet 79:370-7. 2006
    ..These results establish that haploinsufficiency of EHMT1 is causative for 9q subtelomeric deletion syndrome...
  73. ncbi request reprint Encephalomyopathy and optic atrophy with tall stature and mitochondrial dysfunction: a new syndrome
    Eva Morava
    Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Clin Dysmorphol 16:131-4. 2007
  74. ncbi request reprint No evidence for involvement of IL-4R and CD11B from the IBD1 region and STAT6 in the IBD2 region in Crohn's disease
    Dirk J de Jong
    Department of Gastroenterology and Hepatology, University Medical Center Nijmegen, The Netherlands
    Eur J Hum Genet 11:884-7. 2003
    ..From this we conclude that IL-4R and CD11B in the IBD1 region and STAT6 in the IBD2 region are not involved in Crohn's disease in this Dutch cohort...
  75. ncbi request reprint Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon
    José A J M van den Hurk
    Department of Human Genetics, University Medical Center Nijmegen, P O Box 9101, 6500 HB, Nijmegen, The Netherlands
    Hum Genet 113:268-75. 2003
    ..Finally, in an affected male who did not have a mutation in any of the CHM exons or their splice sites, the deletion of a complete exon from the CHM mRNA was observed...
  76. ncbi request reprint Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome
    Heleen H Arts
    Department of Human Genetics, Radboud University Nijmegen Medical Centre and Nijmegen Centre for Molecular Life Sciences, 6500 HB Nijmegen, The Netherlands
    Nat Genet 39:882-8. 2007
    ..This work identifies RPGRIP1L as a gene responsible for JBTS and establishes a central role for cilia and basal bodies in the pathophysiology of this disorder...
  77. pmc TLR4 polymorphisms, infectious diseases, and evolutionary pressure during migration of modern humans
    Bart Ferwerda
    Department of Internal Medicine, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Proc Natl Acad Sci U S A 104:16645-50. 2007
    ....
  78. pmc Genetic testing for Lynch syndrome in the first year of colorectal cancer: a review of the psychological impact
    Karin M Landsbergen
    Department of Human Genetics, Raboud University Nijmegen Medical Centre, 6525 GA Nijmegen, The Netherlands
    Fam Cancer 8:325-37. 2009
    ..We found presumptive evidence that specific subgroups of patients with CRC are more vulnerable for genetic-testing-related distress...
  79. pmc Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome
    Daniel Beltran-Valero de Bernabe
    Department of Human Genetics, University Medical Centre Nijmegen, Nijmegen, The Netherlands
    Am J Hum Genet 71:1033-43. 2002
    ..The implication of O-mannosylation in MEB and WWS suggests new lines of study in understanding the molecular basis of neuronal migration...
  80. 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...
  81. ncbi request reprint A new web-based data mining tool for the identification of candidate genes for human genetic disorders
    Marc A van Driel
    Centre for Molecular and Biomolecular Informatics, University of Nijmegen, The Netherlands
    Eur J Hum Genet 11:57-63. 2003
    ..We are currently expanding the tool by adding other databases. The GeneSeeker is available via the web-interface (http://www.cmbi.kun.nl/GeneSeeker/)...
  82. pmc Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities
    Lisenka E L M Vissers
    Department of Human Genetics, University Medical Center Nijmegen, Nijmegen, The Netherlands
    Am J Hum Genet 73:1261-70. 2003
    ..This high-resolution assay will facilitate the identification of novel genes involved in human mental retardation and/or malformation syndromes and will provide insight into the flexibility and plasticity of the human genome...
  83. ncbi request reprint Low frequency of MECP2 mutations in mentally retarded males
    Helger G Yntema
    Department of Human Genetics, University Medical Center, Nijmegen, The Netherlands
    Eur J Hum Genet 10:487-90. 2002
    ..The true frequency of MECP2 mutations in the mentally retarded has probably been overestimated. Based on our data, the frequency of MECP2 mutations in mentally retarded males is 0.2% (1/475)...
  84. ncbi request reprint Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63
    Pascal H G Duijf
    Department of Human Genetics 417, University Medical Centre Nijmegen, Box 9101, 6500 HB Nijmegen, The Netherlands
    Hum Mol Genet 11:799-804. 2002
    ..Our results further show that p63 contains a second transactivation domain which is normally repressed and can become activated by mutations in the DNA binding domain of p63...
  85. pmc The phenotype of recurrent 10q22q23 deletions and duplications
    Bregje W M van Bon
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Eur J Hum Genet 19:400-8. 2011
    ..Reciprocal deletions lead to speech and language delay, mild facial dysmorphisms and, in some individuals, to cerebellar, breast developmental and cardiac defects...
  86. ncbi request reprint Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11)
    Mirjam W J Luijendijk
    Department of Human Genetics, University Medical Center Nijmegen, Nijmegen, The Netherlands
    Hum Genet 115:149-56. 2004
    ....
  87. ncbi request reprint Severe mental retardation, epilepsy, anal anomalies, and distal phalangeal hypoplasia in siblings
    Carlo L Marcelis
    Department of Human Genetics, University Nijmegen Medical Centre, The Netherlands
    Clin Dysmorphol 16:73-6. 2007
    ..These results are consistent with an autosomal recessive condition that is similar to, but likely distinct from, Coffin-Siris syndrome...
  88. ncbi request reprint Unfavorable pathological characteristics in familial colorectal cancer with low-level microsatellite instability
    Carolien M Kets
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Mod Pathol 19:1624-30. 2006
    ..However, tumors with low-level MSI show unfavorable pathological characteristics compared to tumors with no and tumors with high-level MSI. These differences suggest a distinct underlying biology of CRC with low-level MSI...
  89. ncbi request reprint The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe
    Alessandra Maugeri
    Department of Human Genetics, University Medical Center Nijmegen, Nijmegen, The Netherlands
    Eur J Hum Genet 10:197-203. 2002
    ..These results indicate a single origin of the 2588G>C mutation which, to our best estimate, occurred between 2400 and 3000 years ago...
  90. pmc High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization
    Joris A Veltman
    Department of Human Genetics, University Medical Center Nijmegen, Nijmegen, The Netherlands
    Am J Hum Genet 70:1269-76. 2002
    ..The robustness and simplicity of this array-based telomere copy-number screening make it highly suited for introduction into the clinic as a rapid and sensitive automated diagnostic procedure...
  91. pmc Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome
    Neil V Morgan
    Section of Medical and Molecular Genetics, University of Birmingham, Institute of Biomedical Research, Edgbaston, Birmingham, B15 2TT, UK
    Am J Hum Genet 79:390-5. 2006
    ..These findings extend the role of acetylcholine receptor dysfunction in human disease and provide new insights into the pathogenesis and management of fetal akinesia syndromes...
  92. pmc Clinical and molecular phenotype of Aicardi-Goutieres syndrome
    Gillian Rice
    Leeds Institute of Molecular Medicine, St James s University Hospital, Leeds, LS9 7TF, UK
    Am J Hum Genet 81:713-25. 2007
    ..Our analysis defines the phenotypic spectrum of AGS and suggests a coherent mutation-screening strategy in this heterogeneous disorder. Additionally, our data indicate that at least one further AGS-causing gene remains to be identified...
  93. pmc PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity
    Marco Tartaglia
    Department of Pediatrics, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, NY 10029, USA
    Am J Hum Genet 70:1555-63. 2002
    ..A PTPN11 mutation was identified in a family inheriting Noonan-like/multiple giant-cell lesion syndrome, extending the phenotypic range of disease associated with this gene...
  94. ncbi request reprint Characterization of a recurrent 15q24 microdeletion syndrome
    Andrew J Sharp
    Department of Genome Sciences, University of Washington School of Medicine, 1705 NE Pacific Street Seattle, WA 98195, USA
    Hum Mol Genet 16:567-72. 2007
    ..Our results define microdeletion of 15q24 as a novel recurrent genomic disorder...
  95. ncbi request reprint Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA)
    Cecilia Giunta
    Division of Metabolism and Molecular Pediatrics, University Children s Hospital, Steinwiesstrasse 75, CH 8032 Zurich, Switzerland
    Am J Med Genet A 133:158-64. 2005
    ....
  96. ncbi request reprint Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes
    Caroline B Michielse
    Department of Neurology, University Medical Centre Nijmegen, 6500 HB Nijmegen, The Netherlands
    Eur J Hum Genet 14:1306-12. 2006
    ..The genes PODXL2, PLEXIN-D1, GATA-2, and TMCC1 are also located within the smaller critical interval of the Pakistani HCFP family. Based on the results obtained, all seven genes could be excluded as causative genes in HCFP...
  97. ncbi request reprint Mutations in different components of FGF signaling in LADD syndrome
    Edyta Rohmann
    Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany
    Nat Genet 38:414-7. 2006
    ..These findings increase the spectrum of anomalies associated with abnormal FGF signaling...
  98. ncbi request reprint A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype?
    Ilse Gutierrez-Roelens
    Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology and Universite catholique de Louvain, Avenue Hippocrate 74 5, BP 75 39, B 1200 Brussels, Belgium
    Eur J Hum Genet 14:1313-6. 2006
    ..Atrial fibrillation, previously reported in three individuals with CSX/NKX2-5 mutations, was observed in three patients...
  99. ncbi request reprint Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly
    Jeffrey E Ming
    Division of Human Genetics, Department of Pediatrics, Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
    Hum Genet 110:297-301. 2002
    ..These findings further demonstrate the genetic heterogeneity associated with HPE, as well as showing that mutations in different components of a single signaling pathway can result in the same clinical condition...
  100. pmc The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males
    Stephen R F Twigg
    Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, United Kingdom
    Am J Hum Genet 78:999-1010. 2006
    ..These results highlight the importance of considering possible origins of mutation in the counseling of families with CFNS and provide a generally applicable approach to the combined analysis of mosaic and germline mutations...
  101. ncbi request reprint The relationship between clinical severity of Noonan's syndrome and growth, growth hormone (GH) secretion and response to GH treatment
    Kees Noordam
    Department of Paediatric Endocrinology, University Medical Centre St Radboud, Nijmegen, The Netherlands
    J Pediatr Endocrinol Metab 15:175-80. 2002
    ..However, the variability in phenotype severity did account for striking differences in endogenous GH secretion...