Joris Robert Vermeesch

Summary

Affiliation: Katholieke Universiteit Leuven
Country: Germany

Publications

  1. ncbi Hepatitis B virus replication causes oxidative stress in HepAD38 liver cells
    Tamara Severi
    Department of Hepatology, University Hospital Gasthuisberg, Leuven, Belgium
    Mol Cell Biochem 290:79-85. 2006
  2. ncbi Bronchiectasis and immune deficiency in an adult patient with deletion 2q37 due to an unbalanced translocation t(2;10)
    Irina Balikova
    Center for Human Genetics, University Hospitals Leuven, Herestraat 49, B 3000 Leuven, Belgium
    Eur J Med Genet 52:260-1. 2009
  3. ncbi Guidelines for molecular karyotyping in constitutional genetic diagnosis
    Joris Robert Vermeesch
    Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium
    Eur J Hum Genet 15:1105-14. 2007
  4. doi High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformations
    Irina Balikova
    Centre for Human Genetics, University Hospitals Leuven, Katholieke Universiteit Leuven, Leuven, Belgium
    Am J Ophthalmol 151:1087-1094.e45. 2011
  5. doi 2q31.1 microdeletion syndrome: redefining the associated clinical phenotype
    Boyan Dimitrov
    Centre for Human Genetics, University Hospitals Leuven, Leuven, Belgium
    J Med Genet 48:98-104. 2011
  6. pmc An experimental loop design for the detection of constitutional chromosomal aberrations by array CGH
    Joke Allemeersch
    Microarray Facility, VIB, Leuven, Belgium
    BMC Bioinformatics 10:380. 2009
  7. doi Array comparative genomic hybridization as a diagnostic tool for syndromic heart defects
    Jeroen Breckpot
    Center of Human Genetics, University Hospitals Leuven, Leuven, Belgium
    J Pediatr 156:810-7, 817.e1-817.e4. 2010
  8. pmc Genome-wide copy number profiling of single cells in S-phase reveals DNA-replication domains
    Niels van der Aa
    Laboratory of Reproductive Genomics, Department of Human Genetics, KU Leuven, Leuven, 3000, Belgium
    Nucleic Acids Res 41:e66. 2013
  9. ncbi A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay
    Jeroen Breckpot
    Center for Human Genetics, University Hospital Leuven, Leuven, Belgium
    Eur J Hum Genet 16:1050-4. 2008
  10. ncbi Partial duplications of the ATRX gene cause the ATR-X syndrome
    Bernard Thienpont
    Center for Human Genetics, Catholic University of Leuven, Leuven, Belgium
    Eur J Hum Genet 15:1094-7. 2007

Collaborators

Detail Information

Publications24

  1. ncbi Hepatitis B virus replication causes oxidative stress in HepAD38 liver cells
    Tamara Severi
    Department of Hepatology, University Hospital Gasthuisberg, Leuven, Belgium
    Mol Cell Biochem 290:79-85. 2006
    ..In this HepAD38 model early events (0-4 days) in the host cell after induction of HBV replication can be studied under strictly defined conditions...
  2. ncbi Bronchiectasis and immune deficiency in an adult patient with deletion 2q37 due to an unbalanced translocation t(2;10)
    Irina Balikova
    Center for Human Genetics, University Hospitals Leuven, Herestraat 49, B 3000 Leuven, Belgium
    Eur J Med Genet 52:260-1. 2009
    ..We describe a female patient with der(2) t(2;10)(q37;q26). She presented with congenital malformations typical of a terminal 2q deletion, associated with immune deficiency leading to bronchiectasis...
  3. ncbi Guidelines for molecular karyotyping in constitutional genetic diagnosis
    Joris Robert Vermeesch
    Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium
    Eur J Hum Genet 15:1105-14. 2007
    ..Internal and external quality control programmes are urgently needed to evaluate and standardise the test results between laboratories...
  4. doi High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformations
    Irina Balikova
    Centre for Human Genetics, University Hospitals Leuven, Katholieke Universiteit Leuven, Leuven, Belgium
    Am J Ophthalmol 151:1087-1094.e45. 2011
    ..The purpose of this study was to evaluate the clinical usefulness of the array comparative genomic hybridization technique for the genetic analysis of patients with congenital ocular malformations...
  5. doi 2q31.1 microdeletion syndrome: redefining the associated clinical phenotype
    Boyan Dimitrov
    Centre for Human Genetics, University Hospitals Leuven, Leuven, Belgium
    J Med Genet 48:98-104. 2011
    ..DLX1 and DLX2 haploinsufficiency was suggested as the most plausible explanation for the observed SHFM-like limb anomalies in these cases...
  6. pmc An experimental loop design for the detection of constitutional chromosomal aberrations by array CGH
    Joke Allemeersch
    Microarray Facility, VIB, Leuven, Belgium
    BMC Bioinformatics 10:380. 2009
    ..Instead, we apply an experimental loop design that compares three patients in three hybridizations...
  7. doi Array comparative genomic hybridization as a diagnostic tool for syndromic heart defects
    Jeroen Breckpot
    Center of Human Genetics, University Hospitals Leuven, Leuven, Belgium
    J Pediatr 156:810-7, 817.e1-817.e4. 2010
    ..To investigate different aspects of the introduction of array comparative genomic hybridization (aCGH) in clinical practice...
  8. pmc Genome-wide copy number profiling of single cells in S-phase reveals DNA-replication domains
    Niels van der Aa
    Laboratory of Reproductive Genomics, Department of Human Genetics, KU Leuven, Leuven, 3000, Belgium
    Nucleic Acids Res 41:e66. 2013
    ....
  9. ncbi A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay
    Jeroen Breckpot
    Center for Human Genetics, University Hospital Leuven, Leuven, Belgium
    Eur J Hum Genet 16:1050-4. 2008
    ..This finding confirms the contribution of aCGH to gene identification in autosomal recessive disorders...
  10. ncbi Partial duplications of the ATRX gene cause the ATR-X syndrome
    Bernard Thienpont
    Center for Human Genetics, Catholic University of Leuven, Leuven, Belgium
    Eur J Hum Genet 15:1094-7. 2007
    ..These findings underscore the need for including quantitative analyses to mutation analysis of the ATRX gene...
  11. ncbi Subtelomeric imbalances in phenotypically normal individuals
    Irina Balikova
    Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium
    Hum Mutat 28:958-67. 2007
    ....
  12. doi Microarray analysis of copy number variation in single cells
    Peter Konings
    Department of Electrical Engineering, Katholieke Universiteit Leuven, Leuven, Belgium
    Nat Protoc 7:281-310. 2012
    ..Additionally, it provides quality assessment, allowing the exclusion of uninterpretable single-cell WGA samples. The protocol takes 5-7 d...
  13. doi Aneuploidy and copy number variation in early human development
    Evelyne Vanneste
    Laboratory for Cytogenetics and Genome Research, Center for Human Genetics, KU Leuven, UZ Gasthuisberg, Leuven, Belgium
    Semin Reprod Med 30:302-8. 2012
    ..In this review we provide an overview of how this instability of chromosomes arises and evolves during early human embryogenesis...
  14. pmc Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16
    Irina Balikova
    Center for Human Genetics, University of Leuven, 3000 Leuven, Belgium
    Am J Hum Genet 82:181-7. 2008
    ..This is the first example of an amplified CNV associated with a Mendelian disorder, a discovery that implies that genome screens for genetic disorders should include the analysis of so-called benign CNVs and LCRs...
  15. doi Cytogenetic and morphological analysis of early products of conception following hystero-embryoscopy from couples with recurrent pregnancy loss
    Caroline Robberecht
    Department of Human Genetics, KU Leuven, Leuven, Belgium
    Prenat Diagn 32:933-42. 2012
    ..In addition, it is known that aneuploidies account for less than half of recurrent spontaneous abortions. We hypothesized that (recurrent) early pregnancy losses might have other genetic causes...
  16. doi Diagnosis of miscarriages by molecular karyotyping: benefits and pitfalls
    Caroline Robberecht
    Center for Human Genetics, University Hospital Gasthuisberg, Leuven 3000, Belgium
    Genet Med 11:646-54. 2009
    ..However, due to culture failures or maternal contamination often no fetal karyotype can be obtained. Array comparative genomic hybridization can overcome some of these limitations...
  17. pmc New array approaches to explore single cells genomes
    Evelyne Vanneste
    Laboratory for Cytogenetics and Genome Research, Center for Human Genetics, Katholieke Universiteit Leuven, Universitair Ziekenhuis Gasthuisberg Leuven, Belgium
    Front Genet 3:44. 2012
    ..In this review, we provide an overview of single cell DNA amplification techniques, the different array approaches, and discuss their potential applications to study human embryos...
  18. pmc Piecing together the problems in diagnosing low-level chromosomal mosaicism
    Caroline Robberecht
    Center for Human Genetics, University Hospital Gasthuisberg, Catholic University of Leuven, Herestraat 49, 3000 Leuven, Belgium
    Genome Med 2:47. 2010
    ..It is, however, not easy to diagnose, as various physical and technical factors complicate its identification...
  19. pmc Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4
    Liesbeth Backx
    Center for Human Genetics, University Hospital Gasthuisberg, Herestraat 49, Leuven, Belgium
    Eur J Hum Genet 17:378-82. 2009
    ..3), disrupting the ErbB4 gene. This patient represents the first case of haploinsufficiency for one of the ErbB family members of tyrosine kinase receptors...
  20. doi In vitro screening of embryos by whole-genome sequencing: now, in the future or never?
    Raf Winand
    Department of Electrical Engineering ESAT, STADIUS Center for Dynamical Systems, Signal Processing and Data Analytics, KU Leuven, Leuven, Belgium
    Hum Reprod 29:842-51. 2014
    ..What are the analytical and clinical validity and the clinical utility of in vitro screening of embryos by whole-genome sequencing?..
  21. pmc Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation
    Elyes Chabchoub
    Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium
    J Med Genet 44:250-6. 2007
    ..Broken chromosomes must acquire new telomeric "caps" to be structurally stable. Chromosome healing can be mediated either by telomerase through neo-telomere synthesis or by telomere capture...
  22. ncbi Reply to Hochstenbach et al. 'Molecular karyotyping'
    Joris Robert Vermeesch
    Eur J Hum Genet 14:1063-4. 2006
  23. ncbi Overrepresentation of small supernumerary marker chromosomes (sSMC) from chromosome 6 origin in cases with multiple sSMC
    Thomas Liehr
    Institut fur Humangenetik und Anthropologie, D 07740 Jena, Germany
    Am J Med Genet A 140:46-51. 2006
    ..1 approximately 12 --> q10::q10 --> p11.1 approximately 12::), respectively. Reversed array CGH using the DNA of the microdissected sSMC as probe confirmed the FISH results and enabled the rapid mapping of the breakpoints...
  24. ncbi Genomic organization and evolution of the NF1 microdeletion region
    Thomas De Raedt
    Center of Human Genetics, KULeuven, Herestraat 49, 3000 Louvain, Belgium
    Genomics 84:346-60. 2004
    ..This analysis will also help to identify loci potentially involved in the pathogenesis of the increased tumor load and malignancy risk observed in NF1 microdeletion patients...