ORCID Profile
0000-0002-0535-6589
Current Organisation
Université de Strasbourg
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Publisher: Springer Science and Business Media LLC
Date: 05-1999
DOI: 10.1038/8719
Publisher: Springer Science and Business Media LLC
Date: 27-07-2015
DOI: 10.1038/NG.3360
Publisher: Informa UK Limited
Date: 05-09-2018
Publisher: Elsevier BV
Date: 2023
Publisher: Elsevier BV
Date: 02-2004
Publisher: Springer Science and Business Media LLC
Date: 02-2010
DOI: 10.1038/NATURE08727
Publisher: Cold Spring Harbor Laboratory
Date: 17-02-2022
DOI: 10.1101/2022.02.16.22270779
Abstract: Disease gene discovery on chromosome (chr) X is challenging owing to its unique modes of inheritance. We undertook a systematic analysis of human chrX genes. We observe a higher proportion of disorder-associated genes and an enrichment of genes involved in cognition, language, and seizures on chrX compared to autosomes. We analyze gene constraints, exon and promoter conservation, expression and paralogues, and report 127 genes sharing one or more attributes with known chrX disorder genes. Using a neural network trained to distinguish disease-associated from dispensable genes, we classify 235 genes, including 121 of the 127, as having high probability of being disease-associated. We provide evidence of an excess of variants in predicted genes in existing databases. Finally, we report damaging variants in CDK16 and TRPC5 in patients with intellectual disability or autism spectrum disorders. This study predicts large-scale gene-disease associations that could be used for prioritization of X-linked pathogenic variants.
No related grants have been discovered for Jean Louis Mandel.