Martin Poot

Summary

Affiliation: University Medical Center Utrecht
Country: The Netherlands

Publications

  1. ncbi request reprint Microarray-based genome investigation: molecular karyotyping or segmental aneuploidy profiling?
    Ron Hochstenbach
    Eur J Hum Genet 14:262-5. 2006
  2. 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
  3. doi request reprint Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder
    Martin Poot
    Department of Medical Genetics, University Medical Centre Utrecht, Mail stop KC 04 084 2, P O Box 85090, 3508, Utrecht, The Netherlands
    Neurogenetics 11:81-9. 2010
  4. doi request reprint Three de novo losses and one insertion within a pericentric inversion of chromosome 6 in a patient with complete absence of expressive speech and reduced pain perception
    Martin Poot
    Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, Netherlands
    Eur J Med Genet 52:27-30. 2009
  5. 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
  6. 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
  7. 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
  8. 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
  9. doi request reprint Disentangling the myriad genomics of complex disorders, specifically focusing on autism, epilepsy, and schizophrenia
    M Poot
    Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    Cytogenet Genome Res 135:228-40. 2011
  10. 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

Collaborators

Detail Information

Publications29

  1. ncbi request reprint Microarray-based genome investigation: molecular karyotyping or segmental aneuploidy profiling?
    Ron Hochstenbach
    Eur J Hum Genet 14:262-5. 2006
  2. 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...
  3. doi request reprint Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder
    Martin Poot
    Department of Medical Genetics, University Medical Centre Utrecht, Mail stop KC 04 084 2, P O Box 85090, 3508, Utrecht, The Netherlands
    Neurogenetics 11:81-9. 2010
    ..For full-blown ASD to develop, a proximal disruption of CNTNAP2 may have to occur concomitantly with additional genome mutations such as hemizygous deletions of the KCTD3 and USH2A genes...
  4. doi request reprint Three de novo losses and one insertion within a pericentric inversion of chromosome 6 in a patient with complete absence of expressive speech and reduced pain perception
    Martin Poot
    Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, Netherlands
    Eur J Med Genet 52:27-30. 2009
    ..Since the maternal SNPs were retained this rearrangement of chromosome 6 is most likely of paternal origin...
  5. 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...
  6. 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...
  7. 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...
  8. 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...
  9. doi request reprint Disentangling the myriad genomics of complex disorders, specifically focusing on autism, epilepsy, and schizophrenia
    M Poot
    Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    Cytogenet Genome Res 135:228-40. 2011
    ..e., halting all genetic investigation after the detection of a single CNV) and address some of the future challenges likely to result from implementations of next generation sequencing techniques...
  10. 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...
  11. 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...
  12. 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...
  13. 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...
  14. pmc Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus
    Magdaléna Harakalová
    Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    Eur J Hum Genet 21:487-93. 2013
    ..Furthermore, our study underscores that segregation analysis remains very important in clinical genetics. Prediction programs and mutation evaluation algorithms need to be interpreted with caution...
  15. 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...
  16. 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...
  17. 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...
  18. ncbi request reprint Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome
    Klara Flipsen-ten Berg
    Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands
    Eur J Hum Genet 15:1132-8. 2007
    ..This case further illustrates that unmasking of hemizygous recessive mutations by chromosomal deletions represents an additional explanation for the phenotypic variability observed in chromosomal deletion disorders...
  19. 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...
  20. 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...
  21. doi request reprint Copy number variations in patients with electrical status epilepticus in sleep
    Sietske H G Kevelam
    Department of Medical Genetics, University Medical Center Utrecht, The Netherlands
    J Child Neurol 27:178-82. 2012
    ..However, further studies are needed to confirm our findings...
  22. pmc Identifying human disease genes through cross-species gene mapping of evolutionary conserved processes
    Martin Poot
    Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    PLoS ONE 6:e18612. 2011
    ....
  23. 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...
  24. ncbi request reprint Cytogenetic aberrations in neuropathy associated with IgM monoclonal gammopathy
    Marijke Eurelings
    Department of Neurology, The Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, The Netherlands
    J Neurol Sci 260:124-31. 2007
    ..Cytogenetic aberrations may be found in one third of the patients with neuropathy associated with IgM monoclonal gammopathy and are mainly associated with indolent Waldenstrom's Macroglobulinemia...
  25. ncbi request reprint Insights from genomic microarrays into structural chromosome rearrangements
    Jeroen Knijnenburg
    Laboratory for Cytochemistry and Cytometry, Department of Molecular Cell Biology, Leiden University Medical Center LUMC, Leiden, The Netherlands
    Am J Med Genet A 132:36-40. 2005
    ..We also showed that array results might impact the recurrence risks for relatives of affected individuals. Our data indicate that chromosome rearrangements frequently involve more breaks than current cytogenetic models assume...
  26. ncbi request reprint Functional role of the Werner syndrome RecQ helicase in human fibroblasts
    Kiranjit K Dhillon
    Department of Pathology, University of Washington, Seattle, WA 98195 7705, USA
    Aging Cell 6:53-61. 2007
    ....
  27. ncbi request reprint Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review
    Winnie Courtens
    Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium
    Am J Med Genet A 140:611-7. 2006
    ..We conclude that a second gene locus for this disorder seems probable and that 4q35 needs further evaluation as a candidate region...
  28. pmc Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
    Heather C Mefford
    University of Washington School of Medicine, Seattle 98195, USA
    N Engl J Med 359:1685-99. 2008
    ..Advances in technologies to detect these changes allow for the routine identification of submicroscopic imbalances in large numbers of patients...
  29. ncbi request reprint Werner syndrome diploid fibroblasts are sensitive to 4-nitroquinoline-N-oxide and 8-methoxypsoralen: implications for the disease phenotype
    Martin Poot
    Department of Pathology, University of Washington, Seattle, Washington 98195 7705, USA
    FASEB J 16:757-8. 2002
    ..Because interstrand crosslinks are believed to be repaired through homologous recombination, these results suggest an important role for WRN in recombinational resolution of stalled replication forks...