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Authors
Pagnamenta, Alistair T.
Camps, Carme
Giacopuzzi, Edoardo
Taylor, John M.
Hashim, Mona
Calpena, Eduardo
Kaisaki, Pamela J.
Hashimoto, Akiko
Yu, Jing
Sanders, Edward
Schwessinger, Ron
Hughes, Jim R.
Lunter, Gerton
Dreau, Helene
Ferla, Matteo
Lange, Lukas
Kesim, Yesim
Ragoussis, Vassilis
Vavoulis, Dimitrios V.
Allroggen, Holger
Ansorge, Olaf
Babbs, Christian
Banka, Siddharth
Baños-Piñero, Benito
Beeson, David
Ben-Ami, Tal
Bennett, David L.
Bento, Celeste
Blair, Edward
Brasch-Andersen, Charlotte
Bull, Katherine R.
Cario, Holger
Cilliers, Deirdre
Conti, Valerio
Davies, E. Graham
Dhalla, Fatima
Dacal, Beatriz Diez
Dong, Yin
Dunford, James E.
Guerrini, Renzo
Harris, Adrian L.
Hartley, Jane
Hollander, Georg
Javaid, Kassim
Kane, Maureen
Kelly, Deirdre
Kelly, Dominic
Knight, Samantha J. L.
Kreins, Alexandra Y.
Kvikstad, Erika M.
Langman, Craig B.
Lester, Tracy
Lines, Kate E.
Lord, Simon R.
Lu, Xin
Mansour, Sahar
Manzur, Adnan
Maroofian, Reza
Marsden, Brian
Mason, Joanne
McGowan, Simon J.
Mei, Davide
Mlcochova, Hana
Murakami, Yoshiko
Németh, Andrea H.
Okoli, Steven
Ormondroyd, Elizabeth
Ousager, Lilian Bomme
Palace, Jacqueline
Patel, Smita Y.
Pentony, Melissa M.
Pugh, Chris
Rad, Aboulfazl
Ramesh, Archana
Riva, Simone G.
Roberts, Irene
Roy, Noémi
Salminen, Outi
Schilling, Kyleen D.
Scott, Caroline
Sen, Arjune
Smith, Conrad
Stevenson, Mark
Thakker, Rajesh V.
Twigg, Stephen R. F.
Uhlig, Holm H.
van Wijk, Richard
Vona, Barbara
Wall, Steven
Wang, Jing
Watkins, Hugh
Zak, Jaroslav
Schuh, Anna H.
Kini, Usha
Wilkie, Andrew O. M.
Popitsch, Niko
Taylor, Jenny C. https://orcid.org/0000-0003-3602-5704
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Funding
Funding for this research was provided by:
NIHR Oxford Biomedical Research Centre
VTCT Foundation (V4520)
Wellcome (223149/Z/21/Z)
NIHR Great Ormond Street Hospital Biomedical Research Centre
NIHR Academic Clinical Lectureship & Academy of Medical Sciences Starter Grant for Clinical Lecturers
MRC Core funding (MC_UU_00016/14)
Wellcome Trust Strategic Award (106130/Z/14/Z)
Wellcome Trust (222096/Z/20/Z, 102731)
Oxford Experimental Cancer Medicine Centre
MRC Core Funding (MC_UU_00016/14)
NIHR Rare Diseases Translational Research Collaboration
Gilead
Oxford Craniofacial Unit
OUH NHS Foundation Trust
WIMM Strategic Alliance (G0902418, MC UU 12025)
Great Ormond Street Charity and the MRC (MR/T031670/1)
Cancer Research Institute/Irvington postdoctoral fellowship
Health Research (NIHR) Oxford Biomedical Research Centre
Leona M. and Harry B. Helmsley Charitable Trust
Action Medical Research (GN2855)
MRC (MR/S007180/1)
Medical Research Council (MR/WO1761X/1, MC_UU_00029/ 01-09, MC_UU_00008, MR/T014067/1, MR/R007748/1)
German Research Foundation (DFG VO 2138/7‐1 grant 469177153)
Intramural funding (fortüne), University of Tübingen (2545-1-0)
Ministry of Science, Research and Art Baden-Württemberg
Regione Toscana (DECODE-EE)
Fondazione Cassa di Risparmio di Firenze (Human Optical Brain Mapping Project)
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Article History
Received: 14 December 2022
Accepted: 27 September 2023
First Online: 9 November 2023
Declarations
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: All patients recruited to the study provided their informed consent to participate under the ethics approvals defined. The majority of participants were consented under the Molecular Genetic Analysis and Clinical Studies of Individuals and Families at Risk of Genetic Disease study (MGAC), approved by the West Midlands Research Ethics Committee (WMREC), reference 13/WM/0466. Additional ethics approvals were obtained from Oxford Research Ethics Committee (OXREC) B, 04.OXB.017; OXREC C, 09/H0606/74; OXREC A 05/Q1605/66; WMREC 09/H1204/30; London Riverside REC 09/H0706/20; REC 12/SC/0044; HRA Committee East of England, Cambridge South REC: 14/EE/1112; MREC 12/WA/0001; REC 10/H0604/85; Wales Research Ethics Committee REC513/WA/0371 and Pediatric Ethics Committee of the Tuscany Region /2014 /000559–15. This study conforms to the principles of the Declaration of Helsinki.
: Not applicable. No identifiable data, images or video recordings have been included in the manuscript.
: JRH is a founder, director, paid consultant and shareholder of Nucleome Therapeutics.SL reports consulting fees from Sanofi, GLG consulting, Atheneum and Rejuversen. He has received payment or honoraria for lectures, presentations, or educational events from Eisai, Prosigna, Roche, Pfizer, Novartis, Shionogi and Sanofi and was previously employed by Pfizer. He has received travel, accommodation or expenses from Pfizer, Roche, Synthon and Piqur Therapeutics and research funding from CRUK, Against Breast Cancer, Pathios Therapeutics and is cofounder of Mitox Therapeutics. His institution has received funding for clinical trials for which he is chief investigator or principle investigator from CRUK, Boehringer Ingelheim, Piqur Therapeutics, Astra Zeneca, Carrick Therapeutics, Sanofi, Merck KGaA, Synthon, Roche and Prostate Cancer UK.GL is a founder and shareholder of Genomics PLC.JP acknowledges the following: support for scientific meetings and honorariums for advisory work from Merck Serono, Novartis, Chugai, Alexion, Roche, Medimmune, Argenx, UCB, Mitsubishi, Amplo, Janssen, Sanofi; grants from Alexion, Roche, Medimmune, UCB, Amplo biotechnology, Argenx; patent ref P37347WO and licence agreement Numares multimarker MS diagnostics; shares in AstraZeneca; partial funding by highly specialised services NHS England. For CMS itself, support for advisory work and research grants from Argenx and Amplo biotechnology. None are a conflict for this work.HHU has received research support or consultancy fees from Janssen, UCB Pharma, Eli Lilly, Bristol Myers Squibb BMS, OMass, Mestag, Mirobio, AbbVie and GSK.
