Genome sequencing identifies major causes of severe intellectual disability
2014 · Nature · 1,123 citations
https://doi.org/10.1038/nature13394
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Christian Gilissen
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Christian Gilissen is an academic researcher from Radboud University Nijmegen. The author has contributed to research in topics: Genomics and Rare Diseases & Genomic variations and chromosomal abnormalities & Genetics and Neurodevelopmental Disorders. The author has an h-index of 87, co-authored 300 publications.
Papers by this author
worksExome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability
2016 · Molecular Psychiatry · 151 citations
https://doi.org/10.1038/mp.2016.109
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation
2016 · Nature Communications · 146 citations
https://doi.org/10.1038/ncomms11600
Exome sequencing identifies <i>DYNC2H1</i> mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
2013 · Journal of Medical Genetics · 140 citations
https://doi.org/10.1136/jmedgenet-2012-101284
De Novo Mutations Reflect Development and Aging of the Human Germline
2019 · Trends in Genetics · 130 citations
https://doi.org/10.1016/j.tig.2019.08.005
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa
2020 · The American Journal of Human Genetics · 118 citations
https://doi.org/10.1016/j.ajhg.2020.09.002
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