Query author contributions in Reactome

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Details on Person Gilissen, Christian

Class:Id	Person:4549377
_displayName	Gilissen, Christian
_timestamp	2013-09-12 10:20:24
created	[InstanceEdit:4549381] Jassal, B, 2013-09-12
firstname	Christian
initial	C
surname	Gilissen
(author)	[LiteratureReference:4549391] Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing [LiteratureReference:5661029] Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing [LiteratureReference:5678426] Cant� syndrome is caused by mutations in ABCC9 [LiteratureReference:9618944] Diagnostic exome sequencing in persons with severe intellectual disability [LiteratureReference:9629985] A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer [LiteratureReference:9755883] Presence of Genetic Variants Among Young Men With Severe COVID-19 [LiteratureReference:9823180] Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome [LiteratureReference:9865562] A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia
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No pathways have been reviewed or authored by Gilissen, Christian (4549377)