A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
- Authors
- Jonathan Baets
- Siddharth Banka
- Danique Beijer
- Elisa Benetti
- Ange-Line Bruel
- Andrea Ciolfi
- Jill Clayton-Smith
- Bruno Dallapiccola
- Elke de Boer
- Peter De Jonghe
- Willem De Ridder
- Bert B.A. de Vries
- Geert de Vries
- Jonathan De Winter
- Anne-Sophie Denomme-Pichon
- Yannis Duffourd
- Kornelia Ellwanger
- Laurence Faivre
- Chiara Fallerini
- Christian Gilissen
- Holm Graessner
- Tobias B. Haack
- Marketa Havlovicova
- Alexander Hoischen
- Adam Jackson
- Nolwenn Jean-Marcais
- Tjitske Kleefstra
- Estrella Lopez-Martin
- Milan Macek
- Leslie Matalonga
- Frederic Tran Mau-Them
- Maria Antonietta Mencarelli
- Sebastien Moutton
- Orphanomix Group
- Rolph Pfundt
- Christophe Philippe
- Simone Pizzi
- Manuel Posada
- Francesca Clementina Radio
- Alessandra Renieri
- Caroline Rooryck
- Lukas Ryba
- Hana Safraou
- Martin Schwarz
- Solve-RD Consortia
- Solve-RD DITF-ITHACA
- Solve-RD SNV-indel Working Group
- Marco Tartaglia
- Christel Thauvin-Robinet
- Julien Thevenon
- Vincent Timmerman
- Aurelien Trimouille
- Liedewei Van de Vondel
- Alain Verloes
- Lisenka E.L.M. Vissers
- Antonio Vitobello
- Pavel Votypka
- Sarah Weckhuysen
- Marjolein H. Willemsen
- Birte Zurek
- Publication date
- 1 January 2023
- Publisher