Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach

Best, S, Yu, J, Lord, J et al. (17 more authors) (Cover date: December 2022) Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach. Journal of Medical Genetics, 59 (12). pp. 1151-1164. ISSN 0022-2593

Abstract

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Item Type: Article
Authors/Creators:
Copyright, Publisher and Additional Information:

© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY. Published by BMJ. https://creativecommons.org/licenses/by/4.0/ This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/.

Dates:
  • Published: 22 November 2022
  • Published (online): 28 June 2022
  • Accepted: 7 June 2022
Institution: The University of Leeds
Academic Units: The University of Leeds > Faculty of Medicine and Health (Leeds) > Institute of Molecular Medicine (LIMM) (Leeds) > Section of Opthalmology and Neurosciences (Leeds)
Funding Information:
Funder
Grant number
MRC (Medical Research Council)
MR/K011154/1
Wellcome Trust
Not Known
Wellcome Trust
R120782
MRC (Medical Research Council)
MR/m000532/1
Depositing User: Symplectic Publications
Date Deposited: 14 Jun 2022 11:07
Last Modified: 06 Feb 2023 16:05
Status: Published
Publisher: BMJ
Identification Number: 10.1136/jmedgenet-2022-108476
Open Archives Initiative ID (OAI ID):

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