Litcius/Paper detail

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 Horváth, Luis A. Pérez‐Jurado, Olaf Rieß, Marta Gut, Gert‐Jan B. van Ommen, Hanns Lochmüller, Sergi Beltrán, Alessandra Renieri, Ali Dursun, Antoni Matilla‐Dueñas, Bru Cormand, Carlo Rivolta, Carmen Ayuso, Carmen Espinós, Christian Scerri, Dilek Yalnızoğlu, Doriette Soler, Éva Morava, Fabrizio Barbetti, Francesca Forzano, Francesca Mari, Francesco Muntoni, Frederic Tort, Henry Houlden, María‐Isabel Tejada, Jan Senderek, Javier Benı́tez, Javier Corral De La Calle, Jordi Serra, José M. Millán, José Carlos Segovia, Juan Ramón Gimeno Blanes, Judith Armstrong, Koksal Ozgul, Laura Vilarinho, Lluı́s Montoliu, Manuel Posada, Maria Antonietta Mencarelli, Marina Mora, Paola Bianchi, Pavel Seeman, Perry Elliott, Alessandra Ferlini, Alexis Brice, Brunhilde Wirth, Francesco Muntoni, Mike Hanna, Sarah J. Tabrizi, Thomas Klockgether, Vincent Timmerman, Volker Straub, Semra Hız Kurul, Yavuz Oktay, Serdal Güngör, Ahmet Yaramış, Uluç Yiş, Alfons Macaya, Antònia Ribes, Aurora Pujol, Conxi Lázaro, Daniel Grinberg, Eduardo F. Tizzano, Francesc Cardellach, Francesc Palau, Montserrat Milà, P. Gallano, Rafael Artuch, Ramon MartiSeves, Gonzalo Villanueva, Silvia M. Vidal, Glòria Garrabou, Susana Balcells, Roser Urreizti, Estrella López, Ivon Cuscó, Irene Valenzuela, Maria Sabater

2020Journal of Molecular Diagnostics34 citationsDOIOpen Access PDF

Topics & Concepts

ConsanguinityRuns of HomozygosityExome sequencingDisease gene identificationExomeInbreedingBiologyGeneticsDiseaseMedicinePopulationMutationInternal medicineGeneGenotypeSingle-nucleotide polymorphismEnvironmental healthGenomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders