• Citer

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

par Denommé-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 Bernd;Havlovicova, Marketa;Hoischen, Alexander;Jean-Marçais, Nolwenn;Kleefstra, Tjitske;López-Martín, Estrella;Macek, Milan;Mencarelli, Maria Antonietta;Moutton, Sébastien;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;Tran Mau-Them, Frédéric;Trimouille, Aurélien;Votypka, Pavel;de Vries, Bert B A;Willemsen, Marjolein H;Zurek, Birte;Verloes, Alain ;Philippe, Christophe;Solve-RD DITF-ITHACA, Sarah;Solve-RD SNV-indel Working Group, Antonio;Solve-RD Consortia, Lisenka E L M LELM;Duerinckx, Laurence ;Orphanomix Group, ;Vitobello, ;Vissers, ;Faivre,
Référence Genetics in medicine, 25, 4, page (100018)
Publication Publié, 2023-04-01

Article révisé par les pairs

• Accès en ligne
• Détails
• Contenu
• Statistiques

Titre:	A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Auteur:	Denommé-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 Bernd; Havlovicova, Marketa; Hoischen, Alexander; Jean-Marçais, Nolwenn; Kleefstra, Tjitske; López-Martín, Estrella; Macek, Milan; Mencarelli, Maria Antonietta; Moutton, Sébastien; 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; Tran Mau-Them, Frédéric; Trimouille, Aurélien; Votypka, Pavel; de Vries, Bert B A; Willemsen, Marjolein H; Zurek, Birte; Verloes, Alain; Philippe, Christophe; Solve-RD DITF-ITHACA, Sarah; Solve-RD SNV-indel Working Group, Antonio; Solve-RD Consortia, Lisenka E L M LELM; Duerinckx, Laurence; Orphanomix Group, ; Vitobello, ; Vissers, ; Faivre,
Informations sur la publication:	Genetics in medicine, 25, 4, page (100018)
Statut de publication:	Publié, 2023-04-01
Sujet CREF:	Sciences bio-médicales et agricoles
Mots-clés:	ClinVar
	Developmental disorder
	Exome reanalysis
	Rare diseases
MeSH keywords:	Humans
	Exome Sequencing
	Intellectual Disability -- diagnosis -- genetics
	Alleles
	Genotype
Langue:	Anglais
Identificateurs:	urn:issn:1098-3600
	info:doi/10.1016/j.gim.2023.100018
	info:pii/S1098-3600(23)00024-2
	info:pmid/36681873