Jayne Y Hehir-Kwa

Summary

Affiliation: Radboud University Nijmegen Medical Centre
Country: The Netherlands

Publications

  1. ncbi 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. ncbi 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. ncbi 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
  4. ncbi 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
  5. ncbi 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
  6. ncbi 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
  7. ncbi 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
  8. ncbi 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

Collaborators

Detail Information

Publications8

  1. ncbi 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. ncbi 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. ncbi 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...
  4. ncbi 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...
  5. ncbi 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...
  6. ncbi 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...
  7. ncbi 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...
  8. ncbi 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...