Ron Hochstenbach

Summary

Affiliation: University Medical Center Utrecht
Country: The Netherlands

Publications

  1. doi request reprint Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research
    R Hochstenbach
    Division of Biomedical Genetics, Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands
    Cytogenet Genome Res 135:174-202. 2011
  2. doi request reprint Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands
    Ron Hochstenbach
    Department of Biomedical Genetics, University Medical Centre Utrecht, P O Box 85090, 3508 AB Utrecht, The Netherlands
    Eur J Med Genet 52:161-9. 2009
  3. pmc A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder
    Bert van der Zwaag
    Department of Neuroscience and Pharmacology, Rudolf Magnus Institute of Neuroscience, UMC Utrecht, Utrecht, The Netherlands
    Am J Med Genet B Neuropsychiatr Genet 153:960-6. 2010
  4. pmc Discovery of variants unmasked by hemizygous deletions
    Ron Hochstenbach
    Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    Eur J Hum Genet 20:748-53. 2012
  5. doi request reprint A novel 6.14 Mb duplication of chromosome 8p21 in a patient with autism and self mutilation
    Heval M Ozgen
    Department of Child and Adolescent Psychiatry, Rudolf Magnus Institute of Neuroscience, UMC Utrecht, HP B01 201, GA, Utrecht, The Netherlands
    J Autism Dev Disord 39:322-9. 2009
  6. pmc Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism
    Emma van Daalen
    Department of Child and Adolescent Psychiatry, University Medical Centre, Utrecht, The Netherlands
    Neurogenetics 12:315-23. 2011
  7. doi request reprint Chromosomal abnormalities resembling Joubert syndrome: two cases illustrating the diagnostic pitfalls
    Hester Y Kroes
    Department of Medical Genetics, University Medical Center Utrecht, Lundlaan 6, Utrecht, The Netherlands
    Clin Dysmorphol 20:136-42. 2011
  8. doi request reprint Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms
    Wigard P Kloosterman
    Department of Medical Genetics, University Medical Center Utrecht, Universiteitsweg 100, 3584 CG Utrecht, The Netherlands
    Cell Rep 1:648-55. 2012
  9. pmc Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex
    Martin Poot
    Department of Medical Genetics, University Medical Center Utrecht, PO Box 85090, Mail stop KC 04 084 2, Utrecht, 3508 AB, The Netherlands
    Eur J Hum Genet 18:39-46. 2010
  10. doi request reprint Variable behavioural phenotypes of patients with monosomies of 15q26 and a review of 16 cases
    Martin Poot
    Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    Eur J Med Genet 56:346-50. 2013

Collaborators

Detail Information

Publications19

  1. doi request reprint Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research
    R Hochstenbach
    Division of Biomedical Genetics, Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands
    Cytogenet Genome Res 135:174-202. 2011
    ....
  2. doi request reprint Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands
    Ron Hochstenbach
    Department of Biomedical Genetics, University Medical Centre Utrecht, P O Box 85090, 3508 AB Utrecht, The Netherlands
    Eur J Med Genet 52:161-9. 2009
    ..78% of all DD/MR referrals...
  3. pmc A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder
    Bert van der Zwaag
    Department of Neuroscience and Pharmacology, Rudolf Magnus Institute of Neuroscience, UMC Utrecht, Utrecht, The Netherlands
    Am J Med Genet B Neuropsychiatr Genet 153:960-6. 2010
    ..247), which suggests that our findings should be interpreted with caution and indicates the need for studies that include large numbers of control subjects to ascertain the impact of these changes on a population scale...
  4. pmc Discovery of variants unmasked by hemizygous deletions
    Ron Hochstenbach
    Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    Eur J Hum Genet 20:748-53. 2012
    ..Conceivably, inherited deletions may unmask rare pathogenic variants that may exert a phenotypic impact through a recessive mode of gene action...
  5. doi request reprint A novel 6.14 Mb duplication of chromosome 8p21 in a patient with autism and self mutilation
    Heval M Ozgen
    Department of Child and Adolescent Psychiatry, Rudolf Magnus Institute of Neuroscience, UMC Utrecht, HP B01 201, GA, Utrecht, The Netherlands
    J Autism Dev Disord 39:322-9. 2009
    ..Of those the STMN4 and DPYSL2 genes are the most likely candidate genes to be involved in neuronal development, and, if altered in gene-dosage, in the autistic phenotype of our patient...
  6. pmc Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism
    Emma van Daalen
    Department of Child and Adolescent Psychiatry, University Medical Centre, Utrecht, The Netherlands
    Neurogenetics 12:315-23. 2011
    ..Our study extends the scope of genome-wide CNV profiling beyond de novo CNVs in sporadic patients and may aid in uncovering missing heritability in genome-wide screening studies of complex psychiatric disorders...
  7. doi request reprint Chromosomal abnormalities resembling Joubert syndrome: two cases illustrating the diagnostic pitfalls
    Hester Y Kroes
    Department of Medical Genetics, University Medical Center Utrecht, Lundlaan 6, Utrecht, The Netherlands
    Clin Dysmorphol 20:136-42. 2011
    ..As chromosomal abnormalities may give rise to symptoms resembling JBS, we recommend array-based screening for segmental aneuploidies as an initial genetic test in all cases with a JBS-like phenotype...
  8. doi request reprint Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms
    Wigard P Kloosterman
    Department of Medical Genetics, University Medical Center Utrecht, Universiteitsweg 100, 3584 CG Utrecht, The Netherlands
    Cell Rep 1:648-55. 2012
    ..Our work provides detailed insight into the characteristics of chromothripsis and supports a role for clustered DSBs driving some constitutional chromothripsis rearrangements...
  9. pmc Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex
    Martin Poot
    Department of Medical Genetics, University Medical Center Utrecht, PO Box 85090, Mail stop KC 04 084 2, Utrecht, 3508 AB, The Netherlands
    Eur J Hum Genet 18:39-46. 2010
    ..This indicates that disease cohort-specific compilations of CNCs may aid in identifying loci, genes and biological processes that contribute to the phenotype of patients...
  10. doi request reprint Variable behavioural phenotypes of patients with monosomies of 15q26 and a review of 16 cases
    Martin Poot
    Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    Eur J Med Genet 56:346-50. 2013
    ..We discuss clinical ramifications for cases with a loss of 15q26 detected by prenatal array-CGH...
  11. pmc Gene-network analysis identifies susceptibility genes related to glycobiology in autism
    Bert van der Zwaag
    Department of Neuroscience and Pharmacology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands
    PLoS ONE 4:e5324. 2009
    ..Our findings suggest that the occurrence of genomic gains and losses of genes associated with glycobiology are important contributors to the development of ASD...
  12. pmc Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions
    Hannelie Engbers
    Department of Medical Genetics, Wilhelmina Children s Hospital, University Medical Center Utrecht, Utrecht, The Netherlands
    Eur J Hum Genet 17:129-32. 2009
    ..3 deletion patients...
  13. ncbi request reprint Proportional growth failure and oculocutaneous albinism in a girl with a 6.87 Mb deletion of region 15q26.2-->qter
    Martin Poot
    Department of Medical Genetics, University Medical Center Utrecht, Mail stop KC 04 084 2, P O Box 85090, 3508 AB Utrecht, The Netherlands
    Eur J Med Genet 50:432-40. 2007
    ..2. This allowed us to expand the clinical phenotype of terminal 15q26.2 deletions and to indicate candidate genes for several phenotypic features...
  14. doi request reprint Unstable transmission of a familial complex chromosome rearrangement
    Ellen van Binsbergen
    Section of Genome Diagnostics, Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    Am J Med Genet A 158:2888-93. 2012
    ..To our knowledge, this would be the first description of this mechanism operating on a structurally abnormal chromosome...
  15. doi request reprint A three-step workflow procedure for the interpretation of array-based comparative genome hybridization results in patients with idiopathic mental retardation and congenital anomalies
    Martin Poot
    Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    Genet Med 12:478-85. 2010
    ..This workflow is gene-centered and should aid in identification of disease-related candidate genes and in estimating the recurrence risk for the disorder in the family...
  16. doi request reprint Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline
    Wigard P Kloosterman
    Department of Medical Genetics, University Medical Center Utrecht, Universiteitsweg 100, 3584 CG Utrecht, The Netherlands
    Hum Mol Genet 20:1916-24. 2011
    ..We conclude that a similar mechanism may also drive the formation of de novo structural variation in the germline...
  17. ncbi request reprint Cerebellar hypoplasia, zonular cataract, and peripheral neuropathy in trisomy 17 mosaicism
    Paulien Terhal
    Department of Biomedical Genetics, University Medical Center Utrecht, PO Box 85090, Utrecht, The Netherlands
    Am J Med Genet A 130:410-4. 2004
    ....
  18. ncbi request reprint Dandy-Walker complex in a boy with a 5 Mb deletion of region 1q44 due to a paternal t(1;20)(q44;q13.33)
    Martin Poot
    Department of Biomedical Genetics, University Medical Centre Utrecht, The Netherlands
    Am J Med Genet A 143:1038-44. 2007
    ..Since the ZNF124 transcription factor is strongly expressed in the fetal brain it may represent a candidate gene for the DWC at 1q44...
  19. ncbi request reprint Two cases with partial trisomy 9p: molecular cytogenetic characterization and clinical follow-up
    Annemieke S Littooij
    Department of Medical Genetics, University Medical Center, Utrecht, The Netherlands
    Am J Med Genet 109:125-32. 2002
    ..Such DNA studies will be necessary to define the genotype-phenotype relation in partial trisomy 9p syndrome...