Research Topics
Genomes and Genes | Christian GilissenSummaryAffiliation: Radboud University Nijmegen Medical Centre Country: The Netherlands Publications
| Collaborators
|
Detail Information
Publications
Disease gene identification strategies for exome sequencingChristian 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...- Unlocking Mendelian disease using exome sequencingChristian 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... - Hematopoietic stem cells exhibit a specific ABC transporter gene expression profile clearly distinct from other stem cellsLeilei 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... - Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndromeChristian 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... 
Targeted next generation sequencing reveals a novel intragenic deletion of the TPO gene in a family with intellectual disabilityZafar 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)...- Diagnostic exome sequencing in persons with severe intellectual disabilityJoep 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... - Analysis of genes regulated by the transcription factor LUMAN identifies ApoA4 as a target gene in dendritic cellsAnna 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)... - De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndromeAlexander 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... - Next-generation genetic testing for retinitis pigmentosaKornelia 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... - MicroRNA hsa-miR-135b regulates mineralization in osteogenic differentiation of human unrestricted somatic stem cellsAneta 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... - High BRE expression predicts favorable outcome in adult acute myeloid leukemia, in particular among MLL-AF9-positive patientsSylvie 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... - Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndromeJanneke 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... - Cantú syndrome is caused by mutations in ABCC9Bregje 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... - Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPPLisenka 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.... - Disruption of an EHMT1-associated chromatin-modification module causes intellectual disabilityTjitske 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... - Validation study of existing gene expression signatures for anti-TNF treatment in patients with rheumatoid arthritisErik 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... - Accurate distinction of pathogenic from benign CNVs in mental retardationJayne 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... - Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycanTony 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... - STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasisFrank 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... - High density gene expression microarrays and gene ontology analysis for identifying processes in implanted tissue engineering constructsGerwen 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... - A de novo paradigm for mental retardationLisenka 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... - Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxiaSascha 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... - Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegiaJanneke 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... - Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndromeDavid 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... - BTG1 regulates glucocorticoid receptor autoinduction in acute lymphoblastic leukemiaJoost 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... - Functional differences between mesenchymal stem cell populations are reflected by their transcriptomeBastiaan 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...