Jayne Y Hehir-Kwa

Summary

Affiliation: Radboud University Nijmegen Medical Centre
Country: The Netherlands

Publications

  1. 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
  2. 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
  3. doi request reprint Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies
    Marjolein H Willemsen
    849 Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Eur J Med Genet 55:586-98. 2012
  4. 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
  5. doi 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
  6. doi 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
  7. 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
  8. doi request reprint High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population
    Rob W J Collin
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Geert Grooteplein 10, Nijmegen, The Netherlands
    Invest Ophthalmol Vis Sci 52:2227-39. 2011
  9. pmc Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita
    Marjolijn C J Jongmans
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen Centre for Molecular Life Sciences, The Netherlands
    Am J Hum Genet 90:426-33. 2012
  10. 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

Collaborators

Detail Information

Publications14

  1. 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...
  2. 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...
  3. doi request reprint Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies
    Marjolein H Willemsen
    849 Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Eur J Med Genet 55:586-98. 2012
    ..The prevalence of X-chromosome copy number variations in this cohort was 57/4407 (∼1.3%), of which 15 (0.3%) were interpreted as (likely) pathogenic...
  4. 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...
  5. doi 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...
  6. doi 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. ..
  7. 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...
  8. doi request reprint High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population
    Rob W J Collin
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Geert Grooteplein 10, Nijmegen, The Netherlands
    Invest Ophthalmol Vis Sci 52:2227-39. 2011
    ..The hypothesis was that, because there has been little migration over the past centuries in certain areas of The Netherlands, a significant fraction of Dutch arRP patients carry their genetic defect in the homozygous state...
  9. pmc Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita
    Marjolijn C J Jongmans
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen Centre for Molecular Life Sciences, The Netherlands
    Am J Hum Genet 90:426-33. 2012
    ..This shows that revertant mosaicism is a recurrent event in DC. This finding has important implications for improving diagnostic testing and understanding the variable phenotype of DC...
  10. 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...
  11. doi request reprint An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations
    Anneke T Vulto-van Silfhout
    Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands
    Eur J Med Genet 56:471-4. 2013
    ..This article gives an overview of the current status and future plans of the online ECARUCA database. ..
  12. 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...
  13. 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. ..
  14. doi 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...