Gilissen, Christian

Diagnostic exome sequencing in persons with severe intellectual disability

de Ligt, J., Willemsen, M. H., van Bon, B. W. M., Kleefstra, T., Yntema, H. G., Kroes, T., Vulto-van Silfhout, A. T., Koolen, D. A., de Vries, P., Gilissen, C., et al. (2012) · New England Journal of Medicine

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 1,546

Genome sequencing identifies major causes of severe intellectual disability

Gilissen, C., Hehir-Kwa, J. Y., Thung, D. T., van de Vorst, M., van Bon, B. W. M., Willemsen, M. H., Kwint, M., Janssen, I. M., Hoischen, A., Schenck, A., et al. (2014) · Nature

Genomics and Rare DiseasesGenomic variations and chromosomal abnormalities

Cited by 1,125

A de novo paradigm for mental retardation.

Vissers, L. E. L. M., de Ligt, J., Gilissen, C., Janssen, I., Steehouwer, M., de Vries, P., van Lier, B., Arts, P., Wieskamp, N., del Rosario, M., et al. (2010) · Nature Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 852

Presence of Genetic Variants Among Young Men With Severe COVID-19

van der Made, C. I., Simons, A., Schuurs-Hoeijmakers, J., van den Heuvel, G., Mantere, T., Kersten, S., van Deuren, R. C., Steehouwer, M., van Reijmersdal, S. V., Jaeger, M., et al. (2020) · JAMA

Immunodeficiency and Autoimmune DisordersCOVID-19 Clinical Research Studies

Cited by 789

Genetic studies in intellectual disability and related disorders

Vissers, L. E. L. M., Gilissen, C., & Veltman, J. A. (2016) · Nature Reviews Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 761

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Kaplanis, J., Samocha, K. E., Wiel, L., Zhang, Z., Arvai, K. J., Eberhardt, R. Y., Gallone, G., Lelieveld, S. H., Martin, H. C., McRae, J. F., et al. (2020) · Nature

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 615

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

Hoischen, A., van Bon, B. W. M., Gilissen, C., Arts, P., van Lier, B., Steehouwer, M., de Vries, P., de Reuver, R., Wieskamp, N., Mortier, G., et al. (2010) · Nature Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 489

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

Lelieveld, S. H., Reijnders, M. R. F., Pfundt, R., Yntema, H. G., Kamsteeg, E.-J., de Vries, P., de Vries, B. B. A., Willemsen, M. H., Kleefstra, T., Löhner, K., et al. (2016) · Nature Neuroscience

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 442

Improved exome prioritization of disease genes through cross-species phenotype comparison

Robinson, P. N., Köhler, S., Oellrich, A., Sanger Mouse Genetics Project, Wang, K., Mungall, C. J., Lewis, S. E., Washington, N., Bauer, S., Seelow, D., et al. (2014) · Genome Research

Genomics and Rare DiseasesBioinformatics and Genomic Networks

Cited by 375

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

Santen, G. W. E., Aten, E., Sun, Y., Almomani, R., Gilissen, C., Nielsen, M., Kant, S. G., Snoeck, I. N., Peeters, E. A. J., Hilhorst-Hofstee, Y., et al. (2012) · Nature Genetics

Genetics and Neurodevelopmental DisordersChromatin Remodeling and Cancer

Cited by 347

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

Pottier, C., Bieniek, K. F., Finch, N., van de Vorst, M., Baker, M., Perkersen, R., Brown, P., Ravenscroft, T., van Blitterswijk, M., Nicholson, A. M., et al. (2015) · Acta Neuropathologica

Amyotrophic Lateral Sclerosis ResearchAlzheimer's disease research and treatments

Cited by 312

Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life

Acuna-Hidalgo, R., Sengul, H., Steehouwer, M., van de Vorst, M., Vermeulen, S. H., Kiemeney, L. A. L. M., Veltman, J. A., Gilissen, C., & Hoischen, A. (2017) · The American Journal of Human Genetics

Acute Myeloid Leukemia ResearchCancer Genomics and Diagnostics

Cited by 264

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

Koolen, D. A., Kramer, J. M., Neveling, K., Nillesen, W. M., Moore-Barton, H. L., Elmslie, F. V., Toutain, A., Amiel, J., Malan, V., Tsai, A. C.-H., et al. (2012) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 232

YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction

Gabriele, M., Vulto-van Silfhout, A. T., Germain, P.-L., Vitriolo, A., Kumar, R., Douglas, E., Haan, E., Kosaki, K., Takenouchi, T., Rauch, A., et al. (2017) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 163

Functional differences between mesenchymal stem cell populations are reflected by their transcriptome

Jansen, B. J. H., Gilissen, C., Roelofs, H., Schaap-Oziemlak, A., Veltman, J. A., Raymakers, R. A. P., Jansen, J. H., Kögler, G., Figdor, C. G., Torensma, R., et al. (2010) · Stem Cells and Development

Mesenchymal stem cell researchPluripotent Stem Cells Research

Cited by 139

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity

Witteveen, J. S., Willemsen, M. H., Dombroski, T. C. D., van Bakel, N. H. M., Nillesen, W. M., van Hulten, J. A., Jansen, E. J. R., Verkaik, D., Veenstra-Knol, H. E., van Ravenswaaij-Arts, C. M. A., et al. (2016) · Nature Genetics

Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

Cited by 128

The performance of genome sequencing as a first-tier test for neurodevelopmental disorders

van der Sanden, B. P. G. H., Schobers, G., Corominas Galbany, J., Koolen, D. A., Sinnema, M., van Reeuwijk, J., Stumpel, C. T. R. M., Kleefstra, T., de Vries, B. B. A., Ruiterkamp-Versteeg, M., et al. (2023) · European Journal of Human Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 97

Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis

Cnossen, W. R., te Morsche, R. H. M., Hoischen, A., Gilissen, C., Chrispijn, M., Venselaar, H., Mehdi, S., Bergmann, C., Veltman, J. A., & Drenth, J. P. H. (2014) · Proceedings of the National Academy of Sciences

Genetic and Kidney Cyst DiseasesGenomics and Rare Diseases

Cited by 90

Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer’s disease

Nicolas, G., Acuña‐Hidalgo, R., Keogh, M. J., Quenez, O., Steehouwer, M., Lelieveld, S., Rousseau, S., Richard, A., Oud, M. S., Marguet, F., et al. (2018) · Alzheimer's & Dementia

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 81

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

Ockeloen, C. W., Khandelwal, K. D., Dreesen, K., Ludwig, K. U., Sullivan, R., van Rooij, I. A. L. M., Thonissen, M., Swinnen, S., Phan, M., Conte, F., et al. (2016) · Genetics in Medicine

dental development and anomaliesCleft Lip and Palate Research

Cited by 78

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability

Reijnders, M. R. F., Kousi, M., van Woerden, G. M., Klein, M., Bralten, J., Mancini, G. M. S., van Essen, T., Proietti-Onori, M., Smeets, E. E. J., van Gastel, M., et al. (2017) · Nature Communications

Genetics and Neurodevelopmental DisordersPI3K/AKT/mTOR signaling in cancer

Cited by 76

Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disorders

Kaplanis, J., Samocha, K. E., Wiel, L., Zhang, Z., Arvai, K. J., Eberhardt, R. Y., Gallone, G., Lelieveld, S. H., Martin, H. C., McRae, J. F., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory)

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 36

DeNovoCNN: a deep learning approach to de novo variant calling in next generation sequencing data

Khazeeva, G., Sablauskas, K., van der Sanden, B., Steyaert, W., Kwint, M., Rots, D., Hinne, M., van Gerven, M., Yntema, H., Vissers, L., et al. (2022) · Nucleic Acids Research

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

Cited by 30

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

de Boer, E., Ockeloen, C. W., Kampen, R. A., Hampstead, J. E., Dingemans, A. J. M., Rots, D., Lütje, L., Ashraf, T., Baker, R., Barat-Houari, M., et al. (2022) · Genetics in Medicine

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 28