Jan Hellemans

Summary

Affiliation: Ghent University
Country: Belgium

Publications

  1. pmc qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data
    Jan Hellemans
    Center for Medical Genetics, Ghent University Hospital, De Pintelaan, B 9000 Ghent, Belgium
    Genome Biol 8:R19. 2007
  2. pmc Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform
    Sarah De Keulenaer
    NXTGNT, Ghent University, Ghent, Belgium
    BMC Med Genomics 5:17. 2012
  3. pmc ZnT3 mRNA levels are reduced in Alzheimer's disease post-mortem brain
    Nancy Beyer
    Centre for Public Health, School of Medicine, Dentistry and Biomedical Sciences, Queen s University Belfast, Northern Ireland
    Mol Neurodegener 4:53. 2009
  4. pmc Analysing 454 amplicon resequencing experiments using the modular and database oriented Variant Identification Pipeline
    Joachim M De Schrijver
    Laboratory for Bioinformatics and Computational Genomics, Department of Molecular Biotechnology, Ghent University, 9000 Ghent, Belgium
    BMC Bioinformatics 11:269. 2010
  5. pmc Measurable impact of RNA quality on gene expression results from quantitative PCR
    Joelle Vermeulen
    Centre for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B 9000 Ghent, Belgium
    Nucleic Acids Res 39:e63. 2011
  6. doi request reprint Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes
    Machteld Baetens
    Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium
    Hum Mutat 32:1053-62. 2011
  7. pmc Practical tools to implement massive parallel pyrosequencing of PCR products in next generation molecular diagnostics
    Kim De Leeneer
    Center for Medical Genetics, Ghent University, Ghent, Belgium
    PLoS ONE 6:e25531. 2011
  8. pmc External oligonucleotide standards enable cross laboratory comparison and exchange of real-time quantitative PCR data
    Joelle Vermeulen
    Center for Medical Genetics, Ghent University Hospital, Belgium
    Nucleic Acids Res 37:e138. 2009
  9. ncbi request reprint The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2)
    Delfien Syx
    Center for Medical Genetics, Ghent University Hospital, 9000, Ghent, Belgium
    Hum Genet 128:79-88. 2010
  10. ncbi request reprint Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1
    Barbara D'haene
    Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B 9000 Ghent, Belgium
    J Clin Endocrinol Metab 95:3010-8. 2010

Collaborators

Detail Information

Publications17

  1. pmc qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data
    Jan Hellemans
    Center for Medical Genetics, Ghent University Hospital, De Pintelaan, B 9000 Ghent, Belgium
    Genome Biol 8:R19. 2007
    ..These models and algorithms are implemented in qBase, a free program for the management and automated analysis of qPCR data...
  2. pmc Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform
    Sarah De Keulenaer
    NXTGNT, Ghent University, Ghent, Belgium
    BMC Med Genomics 5:17. 2012
    ..In this study we used a semi-automated PCR amplification and NGS in order to combine high sensitivity, speed and cost efficiency...
  3. pmc ZnT3 mRNA levels are reduced in Alzheimer's disease post-mortem brain
    Nancy Beyer
    Centre for Public Health, School of Medicine, Dentistry and Biomedical Sciences, Queen s University Belfast, Northern Ireland
    Mol Neurodegener 4:53. 2009
    ....
  4. pmc Analysing 454 amplicon resequencing experiments using the modular and database oriented Variant Identification Pipeline
    Joachim M De Schrijver
    Laboratory for Bioinformatics and Computational Genomics, Department of Molecular Biotechnology, Ghent University, 9000 Ghent, Belgium
    BMC Bioinformatics 11:269. 2010
    ..Currently, no open-source out-of-the-box software solution exists that reliably reports detected genetic variations and that can be used to improve future sequencing effectiveness by analyzing the PCR reactions...
  5. pmc Measurable impact of RNA quality on gene expression results from quantitative PCR
    Joelle Vermeulen
    Centre for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B 9000 Ghent, Belgium
    Nucleic Acids Res 39:e63. 2011
    ..This study forms the basis for further rational assessment of reverse transcription quantitative PCR based results in relation to RNA quality...
  6. doi request reprint Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes
    Machteld Baetens
    Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium
    Hum Mutat 32:1053-62. 2011
    ..We conclude that multiplex PCR of all coding exons of FBN1 and TGFBR1/2 followed by NGS analysis and MLPA is a robust strategy for time- and cost-effective identification of mutations...
  7. pmc Practical tools to implement massive parallel pyrosequencing of PCR products in next generation molecular diagnostics
    Kim De Leeneer
    Center for Medical Genetics, Ghent University, Ghent, Belgium
    PLoS ONE 6:e25531. 2011
    ....
  8. pmc External oligonucleotide standards enable cross laboratory comparison and exchange of real-time quantitative PCR data
    Joelle Vermeulen
    Center for Medical Genetics, Ghent University Hospital, Belgium
    Nucleic Acids Res 37:e138. 2009
    ....
  9. ncbi request reprint The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2)
    Delfien Syx
    Center for Medical Genetics, Ghent University Hospital, 9000, Ghent, Belgium
    Hum Genet 128:79-88. 2010
    ..However, our family shows a dermatological and ultrastructural phenotype belonging to the Ehlers-Danlos rather than the cutis laxa spectrum. Therefore, the MACS acronym is not entirely appropriate for the current family...
  10. ncbi request reprint Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1
    Barbara D'haene
    Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B 9000 Ghent, Belgium
    J Clin Endocrinol Metab 95:3010-8. 2010
    ..Deletions spanning or surrounding the SHOX gene account for a significant proportion of patients with idiopathic short stature (ISS) and allied disorders, such as Leri-Weill dyschondrosteosis...
  11. pmc RDML: structured language and reporting guidelines for real-time quantitative PCR data
    Steve Lefever
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Nucleic Acids Res 37:2065-9. 2009
    ..We here also propose data related guidelines as a subset of the Minimum Information for Publication of Quantitative Real-Time PCR Experiments (MIQE) to guarantee inclusion of key data information when reporting experimental results...
  12. pmc Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia
    Jan Hellemans
    Center for Medical Genetics, Ghent University Hospital, B 9000 Ghent, Belgium
    Am J Hum Genet 85:916-22. 2009
    ..In addition, it defines SMMD as yet another skeletal dysplasia with autosomal-recessive inheritance and a distinct phenotype...
  13. doi request reprint How to do successful gene expression analysis using real-time PCR
    Stefaan Derveaux
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Methods 50:227-30. 2010
    ....
  14. doi request reprint Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations
    Kim De Leeneer
    Center for Medical Genetics, Ghent University Hospital, De Pintelaan, Belgium
    Hum Mutat 32:335-44. 2011
    ..Implementation of this approach will hopefully lead to a strong reduction in turnaround times. As a consequence a wider spectrum of at risk women will be able to benefit from therapeutic interventions and prophylactic interventions...
  15. doi request reprint The heterozygous Lemd3 +/GT mouse is not a murine model for osteopoikilosis in humans
    Annelies Dheedene
    Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, 9000, Ghent, Belgium
    Calcif Tissue Int 85:546-51. 2009
    ..Also, histological analysis did not reveal lesions typical for osteopoikilosis. We conclude that the heterozygous Lemd3 gene-trapped mouse is not a good model to study osteopoikilosis and the Buschke-Ollendorff syndrome...
  16. pmc Predicting outcomes for children with neuroblastoma using a multigene-expression signature: a retrospective SIOPEN/COG/GPOH study
    Joelle Vermeulen
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Lancet Oncol 10:663-71. 2009
    ..More accurate prognostic assessment of patients with neuroblastoma is required to better inform the choice of risk-related therapy. The aim of this study is to develop and validate a gene-expression signature to improve outcome prediction...
  17. pmc Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips
    Jan Hellemans
    Department of Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Am J Hum Genet 72:1040-6. 2003
    ..The two mutant amino acids are strongly conserved and predicted to be located outside the region where brachydactyly type A-1 mutations are clustered...