Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.
Autorzy:
Rosina E; Laboratory of Medical Genetics, ASST Papa Giovanni XXIII, Bergamo, Italy. Pezzani L; Paediatric Unit, ASST Papa Giovanni XXIII, Bergamo, Italy. Apuril E; Laboratory of Medical Genetics, ASST Papa Giovanni XXIII, Bergamo, Italy. Pezzoli L; Laboratory of Medical Genetics, ASST Papa Giovanni XXIII, Bergamo, Italy. Marchetti D; Laboratory of Medical Genetics, ASST Papa Giovanni XXIII, Bergamo, Italy. Bellini M; Laboratory of Medical Genetics, ASST Papa Giovanni XXIII, Bergamo, Italy. Lucca C; Laboratory of Medical Genetics, ASST Papa Giovanni XXIII, Bergamo, Italy. Meossi C; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. Massimello M; Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy. MarianiM; Department of Pediatrics, ASST Lariana Sant' Anna Hospital, Como, Italy. Scatigno A; Paediatric Unit, ASST Papa Giovanni XXIII, Bergamo, Italy. Cattaneo E; Clinical Genetics Unit, Department of Obstetrics and Gynecology, V. Buzzi Children's Hospital, University of Milan, Milan, Italy. Colombo L; Neonatal Intensive Care Unit (NICU), Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. Maitz S; Medical Genetics Service, IOSI, Ente Ospedaliero Cantonale, Lugano, Switzerland. Cereda A; Paediatric Unit, ASST Papa Giovanni XXIII, Bergamo, Italy. Milani D; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. Spaccini L; Clinical Genetics Unit, Department of Obstetrics and Gynecology, V. Buzzi Children's Hospital, University of Milan, Milan, Italy. Bedeschi MF; Clinical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. Selicorni A; Department of Pediatrics, ASST Lariana Sant' Anna Hospital, Como, Italy. Iascone M; Laboratory of Medical Genetics, ASST Papa Giovanni XXIII, Bergamo, Italy.
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