Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity
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Published:2020-09
Issue:9
Volume:22
Page:1205-1215
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ISSN:1525-1578
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Container-title:The Journal of Molecular Diagnostics
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language:en
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Short-container-title:The Journal of Molecular Diagnostics
Author:
Matalonga Leslie, Laurie StevenORCID, Papakonstantinou Anastasios, Piscia Davide, Mereu ElisabettaORCID, Bullich GemmaORCID, Thompson RachelORCID, Horvath Rita, Pérez-Jurado Luis, Riess Olaf, Gut IvoORCID, van Ommen Gert-Jan, Lochmüller Hanns, Beltran Sergi, Renieri Alessandra, Dursun Ali, Matilla-Duenas Antoni, Cormand Bru, Rivolta Carlo, Ayuso Carmen, Espinós Carmen, Scerri Christian, Yalnizoglu Dilek, Soler Doriette, Morava Eva, Barbetti Fabrizio, Forzano Francesca, Mari Francesca, Muntoni Francesco, Tort Frederic, Houlden Henry James, Tejada Maria-Isabel, Senderek Jan, Benitez Javier, De La Calle Javier Corral, Serra Jordi, Millán José Ma, Segovia Jose, Gimeno Blanes Juan Ramon, Armstrong Judith, Ozgul Koksal, Vilarinho Laura, Montoliu Lluis, Posada Manuel, Mencarelli Maria Antonietta, Mora Marina, Bianchi Paola, Seeman Pavel, Elliott Perry M., Ferlini Alessandra, Brice Alexis, Wirth Brunhilde, Muntoni Francesco, Hanna Mike, Tabrizi Sarah, Klockgether Thomas, Timmerman Vincent, Straub Volker, Kurul Semra Hiz, Oktay Yavuz, Gungor Serdal, Yaramis Ahmet, Yis Uluc, Macaya Alfons, Ribes Antonia, Pujol Aurora, Lázaro Conxi, Grinberg Daniel, Tizzano Eduardo, Cardellach Francesc, Palau Francesc, Milà Montse, Gallano Pia, Artuch Rafael, MartiSeves Ramon, Villanueva Gonzalo, Vidal Silvia, Garrabou Gloria, Balcells Susanna, Urreizti Roser, López Estrella, Cuscó Ivon, Valenzuela Irene, Sabater Maria
Funder
European Union projects Instituto de Salud Carlos III Instituto Nacional de Bioinformática Undiagnosed Rare Disease Program of Catalonia Departament de Salut, Generalitat de Catalunya Canadian Institutes of Health Research European Research Council Medical Research Council Wellcome Trust Newton Fund EMBL Generalitat de Catalunya European Regional Development Fund
Subject
Molecular Medicine,Pathology and Forensic Medicine
Cited by
15 articles.
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