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TITLE: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data  Full Text
AUTHORS: Leslie Matalonga; Carles Hernández Ferrer; Davide Piscia; Enzo Cohen; Enzo Cohen; Isabel Cuesta; Daniel Danis; Anne Sophie Denommé Pichon; Anne Sophie Denommé Pichon; Yannis Duffourd; Christian Gilissen; Mridul Johari; Steven Laurie; Shuang Li; Leslie Matalonga; Isabelle Nelson; Sophia Peters; Ida Paramonov; Sivakumar Prasanth; Peter Robinson; Karolis Sablauskas; Marco Savarese; Wouter Steyaert; Joeri K van der Velde; Antonio Vitobello; Antonio Vitobello; Rebecca Schüle; Matthis Synofzik; Ana Töpf; Lisenka E L M Vissers; Lisenka E L M Vissers; Richarda de Voer; Richarda de Voer; Stefan Aretz; Gabriel Capella; Gareth Evans; Jose Garcia Pelaez; Elke Holinski Feder; Nicoline Hoogerbrugge; Andreas Laner; Carla Oliveira; Andreas Rump; Evelin Schröck; Anna Katharina Sommer; Verena Steinke Lange; Iris te Paske; Marc Tischkowitz; Laura Valle; Siddharth Banka; Elisa Benetti; Giorgio Casari; Andrea Ciolfi; Jill Clayton Smith; Bruno Dallapiccola; Elke de Boer; Kornelia Ellwanger; Laurence Faivre; Holm Graessner; Tobias B Haack; Anna Hammarsjö; Marketa Havlovicova; Alexander Hoischen; Anne Hugon; Adam Jackson; Tjitske Kleefstra; Anna Lindstrand; Estrella López Martín; Milan Macek; Manuela Morleo; Vicenzo Nigro; Ann Nordgren; Maria Pettersson; Michele Pinelli; Simone Pizzi; Manuel Posada; Francesca Clementina Radio; Alessandra Renieri; Caroline Rooryck; Lukas Ryba; Martin Schwarz; Marco Tartaglia; Christel Thauvin; Annalaura Torella; Aurélien Trimouille; Alain Verloes; Pavel Votypka; Klea Vyshka; Birte Zurek; Jonathan Baets; Danique Beijer; Gisèle Bonne; Judith Cossins; Teresinha Evangelista; Alessandra Ferlini; Peter Hackman; Michael G Hanna; Rita Horvath; Henry Houlden; Jarred Lau; Hanns Lochmüller; ...More
PUBLISHED: 2021, SOURCE: European Journal of Human Genetics, VOLUME: 29, ISSUE: 9
INDEXED IN: Scopus CrossRef: 17