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Thorax|September 12, 2020
SARS-CoV-2 seroprevalence and asymptomatic viral carriage in healthcare workers: a cross-sectional studyAdrian Shields, Sian E Faustini, Marisol Perez-Toledo, et al.
American Journal of Human Genetics|November 26, 2013
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline MyopathyVandana A Gupta, Gianina Ravenscroft, Ranad Shaheen, et al.
Molecular Psychiatry|February 18, 2021
RCL1 copy number variants are associated with a range of neuropsychiatric phenotypesCatherine A Brownstein, Richard S Smith, Lance H Rodan, et al.
The Lancet. Neurology|November 17, 2023
Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trialPerry B Shieh, Nancy L Kuntz, James J Dowling, et al.
BMJ Open|February 15, 2022
Investigating the uptake, effectiveness and safety of COVID-19 vaccines: protocol for an observational study using linked UK national dataEleftheria Vasileiou, Ting Shi, Steven Kerr, et al.
Nature Neuroscience|December 30, 2025
Recommendations for the inclusion and study of sex and gender in researchDavid P Finn, Brian E McGuire, Simon Beggs, et al.
The British Journal of Surgery|May 18, 2026
Surgical innovation and technologyJeffrey B Matthews, Jelle P Ruurda, Peter G Vaughan-Shaw, et al.
Journal of Neuromuscular Diseases|June 13, 2022
INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular MyopathyJames J Dowling, Wolfgang Müller-Felber, Barbara K Smith, et al.
Frontiers in Nutrition|June 25, 2025
Protocol: the International Milk Composition (IMiC) Consortium - a harmonized secondary analysis of human milk from four studiesKelsey Fehr, Andrew Mertens, Chi-Hung Shu, et al.
NPJ Genomic Medicine|December 2, 2024
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomesCourtney E French, Nancy C Andrews, Alan H Beggs, et al.
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