Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples

Wijngaard, Robin; Demidov, German; O'Gorman, Luke; Corominas-Galbany, Jordi; Yaldiz, Burcu; Steyaert, Wouter; de Boer, Elke; Vissers, Lisenka E. L. M.; Kamsteeg, Erik-Jan; Pfundt, Rolph; Swinkels, Hilde; den Ouden, Amber; te Paske, Iris B. A. W.; de Voer, Richarda M.; Faivre, Laurence; Denomme-Pichon, Anne-Sophie; Duffourd, Yannis; Vitobello, Antonio; Chevarin, Martin; Straub, Volker; Toepf, Ana; van der Kooi, Anneke J.; Magrinelli, Francesca; Rocca, Clarissa; Hanna, Michael G.; Vandrovcova, Jana; Ossowski, Stephan; Laurie, Steven; Gilissen, Christian

dc.contributor.author	Demidov, German
dc.contributor.author	Ossowski, Stephan
dc.date.accessioned	2025-04-01T08:58:56Z
dc.date.available	2025-04-01T08:58:56Z
dc.date.issued	2024
dc.identifier.issn	1018-4813
dc.identifier.uri	http://hdl.handle.net/10900/163548
dc.language.iso	en	de_DE
dc.publisher	London : Springernature	de_DE
dc.relation.uri	http://dx.doi.org/10.1038/s41431-023-01478-7	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples	de_DE
dc.type	Article	de_DE
utue.quellen.id	20241001000000_03748
utue.publikation.seiten	200-208	de_DE
utue.personen.roh	Wijngaard, Robin
utue.personen.roh	Demidov, German
utue.personen.roh	O'Gorman, Luke
utue.personen.roh	Corominas-Galbany, Jordi
utue.personen.roh	Yaldiz, Burcu
utue.personen.roh	Steyaert, Wouter
utue.personen.roh	de Boer, Elke
utue.personen.roh	Vissers, Lisenka E. L. M.
utue.personen.roh	Kamsteeg, Erik-Jan
utue.personen.roh	Pfundt, Rolph
utue.personen.roh	Swinkels, Hilde
utue.personen.roh	den Ouden, Amber
utue.personen.roh	te Paske, Iris B. A. W.
utue.personen.roh	de Voer, Richarda M.
utue.personen.roh	Faivre, Laurence
utue.personen.roh	Denomme-Pichon, Anne-Sophie
utue.personen.roh	Duffourd, Yannis
utue.personen.roh	Vitobello, Antonio
utue.personen.roh	Chevarin, Martin
utue.personen.roh	Straub, Volker
utue.personen.roh	Toepf, Ana
utue.personen.roh	van der Kooi, Anneke J.
utue.personen.roh	Magrinelli, Francesca
utue.personen.roh	Rocca, Clarissa
utue.personen.roh	Hanna, Michael G.
utue.personen.roh	Vandrovcova, Jana
utue.personen.roh	Ossowski, Stephan
utue.personen.roh	Laurie, Steven
utue.personen.roh	Gilissen, Christian
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	de_DE