Publication
Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity
Leslie Matalonga, Steven Laurie, Anastasios Papakonstantinou, Davide Piscia, Elisabetta Mereu, Gemma Bullich, Rachel Thompson, Rita Horvath, Luis Pérez-Jurado, Olaf Riess, Ivo Gut, Gert-Jan van Ommen, Hanns Lochmüller, Sergi Beltran, Alessandra Renieri, Ali Dursun, Antoni Matilla-Duenas, Bru Cormand, Carlo Rivolta, Carmen Ayuso, Carmen Espinós, Christian Scerri, Dilek Yalnizoglu, Doriette Soler, Eva Morava, Fabrizio Barbetti, Francesca Forzano, Francesca Mari, Francesco Muntoni, Frederic Tort, Henry James Houlden, Maria-Isabel Tejada, Jan Senderek, Javier Benitez, Javier Corral De La Calle, Jordi Serra, José Ma Millán, Jose Segovia, Juan Ramon Gimeno Blanes, Judith Armstrong, Koksal Ozgul, Laura Vilarinho, Lluis Montoliu, Manuel Posada, Maria Antonietta Mencarelli, Marina Mora, Paola Bianchi, Pavel Seeman, Perry M. Elliott, Alessandra Ferlini, Alexis Brice, Brunhilde Wirth, Francesco Muntoni, Mike Hanna, Sarah Tabrizi, Thomas Klockgether, Vincent Timmerman, Volker Straub, Semra Hiz Kurul, Yavuz Oktay, Serdal Gungor, Ahmet Yaramis, Uluc Yis, Alfons Macaya, Antonia Ribes, Aurora Pujol, Conxi Lázaro, Daniel Grinberg, Eduardo Tizzano, Francesc Cardellach, Francesc Palau, Montse Milà, Pia Gallano, Rafael Artuch, Ramon MartiSeves, Gonzalo Villanueva, Silvia Vidal, Gloria Garrabou, Susanna Balcells, Roser Urreizti, Estrella López, Ivon Cuscó, Irene Valenzuela, Maria Sabater
Journal of Molecular Diagnostics, September 2020, Elsevier
DOI: 10.1016/j.jmoldx.2020.06.008