Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report

Lagorce, David; Lebreton, Emeline; Matalonga, Leslie; Hongnat, Oscar; Chahdil, Maroua; Piscia, Davide; Paramonov, Ida; Ellwanger, Kornelia; Koehler, Sebastian; Robinson, Peter; Graessner, Holm; Beltran, Sergi; Lucano, Caterina; Hanauer, Marc; Rath, Ana

dc.contributor.author	Ellwanger, Kornelia
dc.contributor.author	Graessner, Holm
dc.date.accessioned	2025-02-28T08:22:21Z
dc.date.available	2025-02-28T08:22:21Z
dc.date.issued	2024
dc.identifier.issn	1018-4813
dc.identifier.uri	http://hdl.handle.net/10900/162593
dc.language.iso	en	en
dc.publisher	London : Springernature	de_DE
dc.relation.uri	http://dx.doi.org/10.1038/s41431-023-01486-7
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report	de_DE
dc.type	Article	de_DE
utue.quellen.id	20241001000000_03701
utue.publikation.seiten	182-189	de_DE
utue.personen.roh	Lagorce, David
utue.personen.roh	Lebreton, Emeline
utue.personen.roh	Matalonga, Leslie
utue.personen.roh	Hongnat, Oscar
utue.personen.roh	Chahdil, Maroua
utue.personen.roh	Piscia, Davide
utue.personen.roh	Paramonov, Ida
utue.personen.roh	Ellwanger, Kornelia
utue.personen.roh	Koehler, Sebastian
utue.personen.roh	Robinson, Peter
utue.personen.roh	Graessner, Holm
utue.personen.roh	Beltran, Sergi
utue.personen.roh	Lucano, Caterina
utue.personen.roh	Hanauer, Marc
utue.personen.roh	Rath, Ana
dcterms.isPartOf.ZSTitelID	European Journal of Human Genetics	de_DE
dcterms.isPartOf.ZS-Issue	2	de_DE
dcterms.isPartOf.ZS-Volume	32	de_DE
utue.fakultaet	04 Medizinische Fakultät