A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Denomme-Pichon, Anne-Sophie; Matalonga, Leslie; de Boer, Elke; Jackson, Adam; Benetti, Elisa; Banka, Siddharth; Bruel, Ange-Line; Ciolfi, Andrea; Clayton-Smith, Jill; Dallapiccola, Bruno; Duffourd, Yannis; Ellwanger, Kornelia; Fallerini, Chiara; Gilissen, Christian; Graessner, Holm; Haack, Tobias B.; Havlovicova, Marketa; Hoischen, Alexander; Jean-Marcais, Nolwenn; Kleefstra, Tjitske; Lopez-Martin, Estrella; Jr, Milan Macek; Mencarelli, Maria Antonietta; Moutton, Sebastien; Pfundt, Rolph; Pizzi, Simone; Posada, Manuel; Radio, Francesca Clementina; Renieri, Alessandra; Rooryck, Caroline; Ryba, Lukas; Safraou, Hana; Schwarz, Martin; Tartaglia, Marco; Thauvin-Robinet, Christel; Thevenon, Julien; Mau-Them, Frederic Tran; Trimouille, Aurelien; Votypka, Pavel; Vries, Bert B. A. de; Willemsen, Marjolein H.; Zurek, Birte; Verloes, Alain; Philippe, Christophe; Vitobello, Antonio; Vissers, Lisenka E. L. M.; Faivre, Laurence

dc.contributor.author	Ellwanger, Kornelia
dc.contributor.author	Graessner, Holm
dc.contributor.author	Haack, Tobias
dc.contributor.author	Zurek, Birte
dc.date.accessioned	2023-08-18T07:27:09Z
dc.date.available	2023-08-18T07:27:09Z
dc.date.issued	2023
dc.identifier.issn	1098-3600
dc.identifier.uri	http://hdl.handle.net/10900/144389
dc.language.iso	en	en
dc.publisher	Elsevier Science Inc	de_DE
dc.relation.uri	http://dx.doi.org/10.1016/j.gim.2023.100018
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing	de_DE
dc.type	Article	de_DE
utue.quellen.id	20230619000000_00871
utue.personen.roh	Denomme-Pichon, Anne-Sophie
utue.personen.roh	Matalonga, Leslie
utue.personen.roh	de Boer, Elke
utue.personen.roh	Jackson, Adam
utue.personen.roh	Benetti, Elisa
utue.personen.roh	Banka, Siddharth
utue.personen.roh	Bruel, Ange-Line
utue.personen.roh	Ciolfi, Andrea
utue.personen.roh	Clayton-Smith, Jill
utue.personen.roh	Dallapiccola, Bruno
utue.personen.roh	Duffourd, Yannis
utue.personen.roh	Ellwanger, Kornelia
utue.personen.roh	Fallerini, Chiara
utue.personen.roh	Gilissen, Christian
utue.personen.roh	Graessner, Holm
utue.personen.roh	Haack, Tobias B.
utue.personen.roh	Havlovicova, Marketa
utue.personen.roh	Hoischen, Alexander
utue.personen.roh	Jean-Marcais, Nolwenn
utue.personen.roh	Kleefstra, Tjitske
utue.personen.roh	Lopez-Martin, Estrella
utue.personen.roh	Jr, Milan Macek
utue.personen.roh	Mencarelli, Maria Antonietta
utue.personen.roh	Moutton, Sebastien
utue.personen.roh	Pfundt, Rolph
utue.personen.roh	Pizzi, Simone
utue.personen.roh	Posada, Manuel
utue.personen.roh	Radio, Francesca Clementina
utue.personen.roh	Renieri, Alessandra
utue.personen.roh	Rooryck, Caroline
utue.personen.roh	Ryba, Lukas
utue.personen.roh	Safraou, Hana
utue.personen.roh	Schwarz, Martin
utue.personen.roh	Tartaglia, Marco
utue.personen.roh	Thauvin-Robinet, Christel
utue.personen.roh	Thevenon, Julien
utue.personen.roh	Mau-Them, Frederic Tran
utue.personen.roh	Trimouille, Aurelien
utue.personen.roh	Votypka, Pavel
utue.personen.roh	Vries, Bert B. A. de
utue.personen.roh	Willemsen, Marjolein H.
utue.personen.roh	Zurek, Birte
utue.personen.roh	Verloes, Alain
utue.personen.roh	Philippe, Christophe
utue.personen.roh	Vitobello, Antonio
utue.personen.roh	Vissers, Lisenka E. L. M.
utue.personen.roh	Faivre, Laurence
dcterms.isPartOf.ZSTitelID	Genetics in Medicine	de_DE
dcterms.isPartOf.ZS-Issue	4	de_DE
dcterms.isPartOf.ZS-Volume	25	de_DE
utue.fakultaet	04 Medizinische Fakultät