ESPE Yearbook of Paediatric Endocrinology

ey0018.14-6 | (1) | ESPEYB18

14.6. Whole-genome sequencing of patients with rare diseases in a national health system

Turro Ernest , Astle William J , Megy Karyn , Graf Stefan , Greene Daniel , Shamardina Olga , Allen Hana Lango , Sanchis-Juan Alba , Frontini Mattia , Thys Chantal , Stephens Jonathan , Mapeta Rutendo , Burren Oliver S , Downes Kate , Haimel Matthias , Tuna Salih , Deevi Sri V V , Aitman Timothy J , Bennett David L , Calleja Paul , Carss Keren , Caulfield Mark J , Chinnery Patrick F , Dixon Peter H , Gale Daniel P , James Roger , Koziell Ania , Laffan Michael A , Levine Adam P , Maher Eamonn R , Markus Hugh S , Morales Joannella , Morrell Nicholas W , Mumford Andrew D , Ormondroyd Elizabeth , Rankin Stuart , Rendon Augusto , Richardson Sylvia , Roberts Irene , Roy Noemi B A , Saleem Moin A , Smith Kenneth G C , Stark Hannah , Tan Rhea Y Y , Themistocleous Andreas C , Thrasher Adrian J , Watkins Hugh , Webster Andrew R , Wilkins Martin R , Williamson Catherine , Whitworth James , Humphray Sean , Bentley David R , Kingston Nathalie , Walker Neil , Bradley John R , Ashford Sofie , Penkett Christopher J , Freson Kathleen , Stirrups Kathleen E , Raymond F Lucy , Ouwehand Willem H