Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease- associated genes

Bruijn, Suzanne E. de; Rodenburg, Kim; Corominas, Jordi; Ben-Yosef, Tamar; Reurink, Janine; Kremer, Hannie; Whelan, Laura; Plomp, Astrid S.; Berger, Wolfgang; Farrar, G. Jane; Kovaecs, Arpaed Ferenc; Fajardy, Isabelle; Hitti-Malin, Rebekkah J.; Weisschuh, Nicole; Weener, Marianna E.; Sharon, Dror; Pennings, Ronald J. E.; Haer-Wigman, Lonneke; Hoyng, Carel B.; Nelen, Marcel R.; Vissers, Lisenka E. L. M.; van den Born, L. Ingeborgh; Gilissen, Christian; Cremers, Frans P. M.; Hoischen, Alexander; Neveling, Kornelia; Roosing, Susanne

dc.contributor.author	Weisschuh, Nicole
dc.date.accessioned	2024-05-14T09:22:34Z
dc.date.available	2024-05-14T09:22:34Z
dc.date.issued	2023
dc.identifier.issn	1098-3600
dc.identifier.uri	http://hdl.handle.net/10900/153343
dc.language.iso	en	de_DE
dc.publisher	New York : Elsevier Science Inc	de_DE
dc.relation.uri	http://dx.doi.org/10.1016/j.gim.2022.11.013	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease- associated genes	de_DE
dc.type	Article	de_DE
utue.quellen.id	20230928000000_02157
utue.personen.roh	Bruijn, Suzanne E. de
utue.personen.roh	Rodenburg, Kim
utue.personen.roh	Corominas, Jordi
utue.personen.roh	Ben-Yosef, Tamar
utue.personen.roh	Reurink, Janine
utue.personen.roh	Kremer, Hannie
utue.personen.roh	Whelan, Laura
utue.personen.roh	Plomp, Astrid S.
utue.personen.roh	Berger, Wolfgang
utue.personen.roh	Farrar, G. Jane
utue.personen.roh	Kovaecs, Arpaed Ferenc
utue.personen.roh	Fajardy, Isabelle
utue.personen.roh	Hitti-Malin, Rebekkah J.
utue.personen.roh	Weisschuh, Nicole
utue.personen.roh	Weener, Marianna E.
utue.personen.roh	Sharon, Dror
utue.personen.roh	Pennings, Ronald J. E.
utue.personen.roh	Haer-Wigman, Lonneke
utue.personen.roh	Hoyng, Carel B.
utue.personen.roh	Nelen, Marcel R.
utue.personen.roh	Vissers, Lisenka E. L. M.
utue.personen.roh	van den Born, L. Ingeborgh
utue.personen.roh	Gilissen, Christian
utue.personen.roh	Cremers, Frans P. M.
utue.personen.roh	Hoischen, Alexander
utue.personen.roh	Neveling, Kornelia
utue.personen.roh	Roosing, Susanne
dcterms.isPartOf.ZSTitelID	Genetics in Medicine	de_DE
dcterms.isPartOf.ZS-Issue	Article 100345	de_DE
dcterms.isPartOf.ZS-Volume	25 (3)	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE