作者：
Katherine A,Wood [1]
;
R Spencer,Tong [1]
;
Marialetizia,Motta [2]
;
Viviana,Cordeddu [3]
;
Eleanor R,Scimone [4]
;
Stephen J,Bush [1]
;
Dale W,Maxwell [1]
;
Eleni,Giannoulatou [5]
;
Viviana,Caputo [6]
;
Alice,Traversa [6]
;
Cecilia,Mancini [2]
;
Giovanni B,Ferrero [7]
;
Francesco,Benedicenti [8]
;
Paola,Grammatico [9]
;
Daniela,Melis [10]
;
Katharina,Steindl [11]
;
Nicola,Brunetti-Pierri [12]
;
Eva,Trevisson [13]
;
Andrew Om,Wilkie [1]
;
Angela E,Lin [4]
;
Valerie,Cormier-Daire [14]
;
Stephen Rf,Twigg [1]
;
Marco,Tartaglia [15]
;
Anne,Goriely [16]
作者单位：
MRC Weatherall Institute of Molecular Medicine, Oxford OX39DS, UK; Nuffield Division of Clinical Laboratory Sciences, Radcliffe Department of Medicine, University of Oxford, Oxford OX39DS, UK; NIHR Oxford Biomedical Research Centre, Oxford OX39DU, UK.
[1]
Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
[2]
Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
[3]
Medical Genetics, Mass General Brigham, Harvard Medical School, Harvard University, Boston, MA 02114, USA.
[4]
Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, NSW 2010, Australia; School of Clinical Medicine, St Vincent's Healthcare Clinical Campus, Faculty of Medicine and Health, UNSW Sydney, Sydney, NSW 2052, Australia.
[5]
Department of Experimental Medicine, Sapienza University, 00161 Rome, Italy.
[6]
Department of Clinical and Biological Science, University of Torino, 10126 Turin, Italy.
[7]
Genetic Counseling Service, Regional Hospital of Bolzano, 39100 Bolzano, Italy.
[8]
Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, 00152 Rome, Italy.
[9]
Department of Medicine, Surgery and Dentistry, University of Salerno, 84081 Salerno, Italy.
[10]
Institute of Medical Genetics, University of Zurich, 8952 Schlieren-Zurich, Switzerland.
[11]
Department of Translational Medicine, Federico II University, 80131 Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy.
[12]
Department of Women's and Children's Health, University of Padova, 35128 Padua, Italy.
[13]
Université Paris Cité, Service de Médecine Génomique des Maladies Rares, INSERM UMR 1163, Institut Imagine, Hôpital Necker-Enfants Malades, 75015 Paris, France.
[14]
Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy. Electronic address: marco.tartaglia@opbg.net.
[15]
MRC Weatherall Institute of Molecular Medicine, Oxford OX39DS, UK; Nuffield Division of Clinical Laboratory Sciences, Radcliffe Department of Medicine, University of Oxford, Oxford OX39DS, UK; NIHR Oxford Biomedical Research Centre, Oxford OX39DU, UK. Electronic address: anne.goriely@imm.ox.ac.uk.
[16]
DOI
10.1016/j.ajhg.2024.07.006
PMID
39116879
发布时间
2024-10-18
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