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Kidney International|October 8, 2025
Mono-allelic pathogenic variants in JAG1 cause autosomal dominant tubulo-interstitial kidney disease (ADTKD-JAG1)Lucie Menguy, Laurent Hudier, Mohamad Zaidan, et al.
Clinical Genetics|October 23, 2022
Biallelic variants in CEP164 cause a motile ciliopathy-like syndromeLaura A Devlin, Janice Coles, Claire L Jackson, et al.
Annals of Neurology|July 18, 2018
Subcellular origin of mitochondrial DNA deletions in human skeletal muscleAmy E Vincent, Hannah S Rosa, Kamil Pabis, et al.
BMC Medicine|April 10, 2026
Interventions to prevent and treat multiple long-term conditions and their consequences across the life course: concepts and definitionsMiles D Witham, Guruprasad P Aithal, Michelle Collinson, et al.
Scientific Reports|January 10, 2018
Publisher Correction: Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric refluxJohn M Darlow, Rebecca Darlay, Mark G Dobson, et al.
Scientific Reports|November 4, 2017
Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric refluxJohn M Darlow, Rebecca Darlay, Mark G Dobson, et al.
Human Mutation|July 2, 2021
A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several familiesEric Olinger, Intisar Al Alawi, Mohammed S Al Riyami, et al.
European Geriatric Medicine|November 29, 2022
Defining terms commonly used in sarcopenia research: a glossary proposed by the Global Leadership in Sarcopenia (GLIS) Steering CommitteePeggy M Cawthon, Marjolein Visser, Hidenori Arai, et al.
Age and Ageing|November 19, 2024
Physical activity and sedentary behaviour interventions for people living with both frailty and multiple long-term conditions and their informal carers: a scoping review and stakeholder consultationHannah M L Young, Joseph Henson, Paddy C Dempsey, et al.
The Journal of Cell Biology|April 15, 2015
TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zoneElle C Roberson, William E Dowdle, Aysegul Ozanturk, et al.
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