Christian Gilissen

Summary

Affiliation: Radboud University Nijmegen Medical Centre
Country: The Netherlands

Publications

  1. pmc Disease gene identification strategies for exome sequencing
    Christian Gilissen
    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
    Eur J Hum Genet 20:490-7. 2012
  2. pmc Unlocking Mendelian disease using exome sequencing
    Christian Gilissen
    Department of Human Genetics, Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    Genome Biol 12:228. 2011
  3. pmc Hematopoietic stem cells exhibit a specific ABC transporter gene expression profile clearly distinct from other stem cells
    Leilei Tang
    Department of Laboratory Medicine, Laboratory of Hematology, Radboud University Nijmegen Medical Centre Nijmegen Centre for Molecular Life Sciences, Geert Grooteplein 8, 6525GA Nijmegen, The Netherlands
    BMC Pharmacol 10:12. 2010
  4. ncbi request reprint Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing
    Janneke H M Schuurs-Hoeijmakers
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    J Med Genet 50:802-11. 2013
  5. pmc A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype
    Zafar Iqbal
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Eur J Hum Genet 21:844-9. 2013
  6. pmc ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature
    Rob W J Collin
    Department of Human Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, The Netherlands
    Proc Natl Acad Sci U S A 110:9856-61. 2013
  7. pmc Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome
    Janneke H M Schuurs-Hoeijmakers
    Department of Human Genetics 855, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Am J Hum Genet 91:1122-7. 2012
  8. pmc Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome
    Christian Gilissen
    Department of Human Genetics, Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, The Netherlands
    Am J Hum Genet 87:418-23. 2010
  9. pmc Mutations in MED12 cause X-linked Ohdo syndrome
    Anneke T Vulto-van Silfhout
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Hum Genet 92:401-6. 2013
  10. doi request reprint Targeted next generation sequencing reveals a novel intragenic deletion of the TPO gene in a family with intellectual disability
    Zafar Iqbal
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, The Netherlands
    Arch Med Res 43:312-6. 2012

Detail Information

Publications38

  1. pmc Disease gene identification strategies for exome sequencing
    Christian Gilissen
    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
    Eur J Hum Genet 20:490-7. 2012
    ..Exome sequencing is likely to become the most commonly used tool for Mendelian disease gene identification for the coming years...
  2. pmc Unlocking Mendelian disease using exome sequencing
    Christian Gilissen
    Department of Human Genetics, Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    Genome Biol 12:228. 2011
    ..Exome sequencing is revolutionizing Mendelian disease gene identification. This results in improved clinical diagnosis, more accurate genotype-phenotype correlations and new insights into the role of rare genomic variation in disease...
  3. pmc Hematopoietic stem cells exhibit a specific ABC transporter gene expression profile clearly distinct from other stem cells
    Leilei Tang
    Department of Laboratory Medicine, Laboratory of Hematology, Radboud University Nijmegen Medical Centre Nijmegen Centre for Molecular Life Sciences, Geert Grooteplein 8, 6525GA Nijmegen, The Netherlands
    BMC Pharmacol 10:12. 2010
    ..Here we have studied whether non-hematopoietic stem cells (non-HSCs) exhibit a similar ABC transporter expression signature as HSCs...
  4. ncbi request reprint Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing
    Janneke H M Schuurs-Hoeijmakers
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    J Med Genet 50:802-11. 2013
    ..Mutations in more than 10% of all human genes are considered to be involved in this disorder, although the majority of these genes are still unknown...
  5. pmc A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype
    Zafar Iqbal
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Eur J Hum Genet 21:844-9. 2013
    ..Our results show that the clinical spectrum of DPAGT1-CDG is much broader than appreciated so far. ..
  6. pmc ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature
    Rob W J Collin
    Department of Human Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, The Netherlands
    Proc Natl Acad Sci U S A 110:9856-61. 2013
    ..His455Tyr mutant ZNF408. Together, our data strongly suggest that mutant ZNF408 results in abnormal retinal vasculogenesis in humans and is associated with FEVR...
  7. pmc Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome
    Janneke H M Schuurs-Hoeijmakers
    Department of Human Genetics 855, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Am J Hum Genet 91:1122-7. 2012
    ..Our findings suggest that PACS1 is necessary for the formation of craniofacial structures and that perturbation of its functions results in a specific syndromic ID phenotype...
  8. pmc Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome
    Christian Gilissen
    Department of Human Genetics, Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, The Netherlands
    Am J Hum Genet 87:418-23. 2010
    ..WDR35 is homologous to TULP4 (from the Tubby superfamily) and has previously been characterized as an intraflagellar transport component, confirming that Sensenbrenner syndrome is a ciliary disorder...
  9. pmc Mutations in MED12 cause X-linked Ohdo syndrome
    Anneke T Vulto-van Silfhout
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Hum Genet 92:401-6. 2013
    ..Together with the recently described KAT6B mutations resulting in Ohdo syndrome Say/Barber/Biesecker/Young/Simpson type, our findings point to aberrant chromatin modification as being central to the pathogenesis of Ohdo syndrome...
  10. doi request reprint Targeted next generation sequencing reveals a novel intragenic deletion of the TPO gene in a family with intellectual disability
    Zafar Iqbal
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, The Netherlands
    Arch Med Res 43:312-6. 2012
    ..In the present study we investigated a consanguineous Pakistani family with intellectual disability (ID)...
  11. doi request reprint Diagnostic exome sequencing in persons with severe intellectual disability
    Joep de Ligt
    Department of Human Genetics, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    N Engl J Med 367:1921-9. 2012
    ..The causes of intellectual disability remain largely unknown because of extensive clinical and genetic heterogeneity...
  12. doi request reprint Analysis of genes regulated by the transcription factor LUMAN identifies ApoA4 as a target gene in dendritic cells
    Anna Sanecka
    Department of Tumor Immunology, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Mol Immunol 50:66-73. 2012
    ..Subsequent validation experiments, bioinformatics-based promoter analysis, and silencing studies confirmed that ApoA4 is a true target gene of LUMAN in bone marrow-derived DCs (BMDCs)...
  13. doi request reprint De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome
    Alexander Hoischen
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Nat Genet 43:729-31. 2011
    ..In total, 7 out of 13 subjects with a Bohring-Opitz phenotype had de novo ASXL1 mutations, suggesting that the syndrome is genetically heterogeneous...
  14. pmc Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis
    Wybrich R Cnossen
    Departments of Gastroenterology and Hepatology and Human Genetics and Center for Molecular and Biomolecular Informatics, Institute for Genetic and Metabolic Disease, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands
    Proc Natl Acad Sci U S A 111:5343-8. 2014
    ..The findings presented in this study link the pathophysiology of PCLD to deregulation of the canonical wingless signaling pathway. ..
  15. doi request reprint Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders
    Zafar Iqbal
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Donders Institute for Brain, Cognitionand Behaviour, Radboud University Medical Centre, Nijmegen, TheNetherlands
    Hum Mol Genet 22:1960-70. 2013
    ..In addition, our findings support the suggested association of ANK3 with various neuropsychiatric disorders and illustrate the genetic and molecular relation between a wide range of neurodevelopmental disorders...
  16. ncbi request reprint A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases
    Kornelia Neveling
    Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands
    Hum Mutat 34:1721-6. 2013
    ..Even if all genes that could have been ordered by physicians had been tested, the larger number of genes captured by the exome would still have led to a clearly superior diagnostic yield at a fraction of the cost. ..
  17. pmc Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia
    Janneke H M Schuurs-Hoeijmakers
    Department of Human Genetics 855, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Am J Hum Genet 91:1073-81. 2012
    ..We show that mutations in DDHD2 cause a specific complex HSP subtype (SPG54), thereby linking a member of the PLA(1) family to human neurologic disease...
  18. pmc Next-generation genetic testing for retinitis pigmentosa
    Kornelia Neveling
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mutat 33:963-72. 2012
    ..De novo dominant mutations appear to play a significant role in patients with isolated RP, having major implications for genetic counselling...
  19. doi request reprint High BRE expression predicts favorable outcome in adult acute myeloid leukemia, in particular among MLL-AF9-positive patients
    Sylvie M Noordermeer
    Department of Laboratory Medicine, Laboratory of Hematology, Radboud University Nijmegen Medical Centre, Nijmegen Centre for Molecular Life Sciences, Nijmegen, The Netherlands
    Blood 118:5613-21. 2011
    ..Thus, high BRE expression defines a novel subtype of adult AML characterized by a favorable prognosis. This work contributes to improved risk stratification in AML, especially among MLL-AF9-positive patients...
  20. doi request reprint MicroRNA hsa-miR-135b regulates mineralization in osteogenic differentiation of human unrestricted somatic stem cells
    Aneta M Schaap-Oziemlak
    Central Hematology Laboratory, Radboud University Nijmegen Medical Centre, Nijmegen Center for Molecular Life Sciences, Nijmegen, The Netherlands
    Stem Cells Dev 19:877-85. 2010
    ..This finding suggests that hsa-miR-135b may control osteoblastic differentiation of USSCs by regulating expression of bone-related genes...
  21. pmc Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy
    Kornelia Neveling
    Department of Human Genetics, Radboud University Medical Centre, 6525 GA Nijmegen, The Netherlands Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, 6525 GA Nijmegen, The Netherlands
    Am J Hum Genet 92:946-54. 2013
    ..These data emphasize the relevance of BICD2 in synaptic-vesicle recycling and support the conclusion that BICD2 mutations cause congenital slowly progressive dominant SMA...
  22. pmc Cantú syndrome is caused by mutations in ABCC9
    Bregje W M van Bon
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, The Netherlands
    Am J Hum Genet 90:1094-101. 2012
    ..These findings identify the genetic basis of Cantú syndrome and suggest that this is a new member of the potassium channelopathies...
  23. pmc Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP
    Lisenka E L M Vissers
    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
    Am J Hum Genet 88:608-15. 2011
    ....
  24. ncbi request reprint Cord Blood Mesenchymal Stem Cells Suppress DC-T Cell Proliferation via Prostaglandin B2
    Lieke C J van den Berk
    1 Department of Tumor Immunology, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Stem Cells Dev 23:1582-93. 2014
    ..The inhibiting moiety was identified as prostaglandin B2 by lipid metabolite analysis of the culture supernatant and confirmed with purified prostaglandin B2. ..
  25. doi request reprint Reliable noninvasive prenatal testing by massively parallel sequencing of circulating cell-free DNA from maternal plasma processed up to 24h after venipuncture
    Karen Buysse
    Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands
    Clin Biochem 46:1783-6. 2013
    ..In this study, we evaluated the downstream effects of extended processing times on the reliability of aneuploidy detection by massively parallel sequencing (MPS)...
  26. doi request reprint Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing
    Sharita Timal
    Department of Neurology, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Hum Mol Genet 21:4151-61. 2012
    ..Combined with these results, the gene defect has been identified in 98% of our CDG-I patients. Our results implicate the potential of WES to unravel disease genes in the CDG-I in newly diagnosed singleton families...
  27. pmc Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability
    Tjitske Kleefstra
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands
    Am J Hum Genet 91:73-82. 2012
    ..We propose a highly conserved epigenetic network that underlies cognition in health and disease. This network should allow the design of strategies to treat the growing group of ID pathologies that are caused by epigenetic defects...
  28. pmc Validation study of existing gene expression signatures for anti-TNF treatment in patients with rheumatoid arthritis
    Erik J M Toonen
    Department of Medicine, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    PLoS ONE 7:e33199. 2012
    ..Our results confirm that gene expression profiling prior to treatment is a useful tool to predict anti-TNF (non) response...
  29. doi request reprint A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy
    An I Jonckheere
    Department of Paediatrics, Nijmegen Centre for Mitochondrial Disorders, Laboratory for Genetic, Endocrine, and Metabolic Disorders, Radboud University Medical Centre, Nijmegen, The Netherlands
    Brain 136:1544-54. 2013
    ..This study demonstrates the important value of functional studies in the diagnostic work-up of mitochondrial patients, in order to guide genetic variant prioritization, and to validate gene defects...
  30. pmc 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...
  31. pmc Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan
    Tony Roscioli
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Nat Genet 44:581-5. 2012
    ..These results implicate ISPD in a-dystroglycan glycosylation in maintaining sarcolemma integrity in vertebrates...
  32. doi request reprint STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis
    Frank L van de Veerdonk
    Department of Medicine, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    N Engl J Med 365:54-61. 2011
    ..Patients with recessive CMC and autoimmunity have mutations in the autoimmune regulator AIRE. The cause of autosomal dominant CMC is unknown...
  33. pmc Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia
    Sascha Vermeer
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands
    Am J Hum Genet 87:813-9. 2010
    ..Moreover, identifying a putative calcium-dependent chloride channel involved in cerebellar ataxia adds another pathway to the list of pathophysiological mechanisms that may cause cerebellar ataxia...
  34. doi request reprint A de novo paradigm for mental retardation
    Lisenka E L M Vissers
    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
    Nat Genet 42:1109-12. 2010
    ..Together with de novo copy number variation, de novo point mutations of large effect could explain the majority of all mental retardation cases in the population...
  35. doi request reprint High density gene expression microarrays and gene ontology analysis for identifying processes in implanted tissue engineering constructs
    Gerwen Lammers
    Department of Biochemistry 280, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Biomaterials 31:8299-312. 2010
    ..However, challenges remain e.g. with regards to the development of specific GO-terms and annotation of the (rat) genome...
  36. doi request reprint Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome
    David A Koolen
    Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Nat Genet 44:639-41. 2012
    ..RNA sequencing studies in cell lines derived from affected individuals and the presence of learning deficits in Drosophila melanogaster mutants suggest a role for KANSL1 in neuronal processes...
  37. ncbi request reprint BTG1 regulates glucocorticoid receptor autoinduction in acute lymphoblastic leukemia
    Joost C van Galen
    Department of Pediatrics, Laboratory of Pediatric Oncology, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Blood 115:4810-9. 2010
    ..Further characterization of this complex as part of the GR regulatory circuitry could offer novel opportunities for improving the efficacy of GC-based therapies in ALL and other hematologic malignancies...
  38. doi request reprint Functional differences between mesenchymal stem cell populations are reflected by their transcriptome
    Bastiaan J H Jansen
    Department of Tumor Immunology, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Stem Cells Dev 19:481-90. 2010
    ..Furthermore, these differences indicate a demand for effective differentiation protocols tailored to each stem cell type...