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Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association|February 19, 2026
The Alzheimer's Disease Diagnosis and Plasma Phospho-Tau217 (ADAPT) study stage 1: Validating clinical cut-points against CSF and amyloid PETAshvini Keshavan, Katharine Wiltshire, Ryan Wee, et al.Journal of Medical Internet Research|August 2, 2019
Implementation of a Digitally Enabled Care Pathway (Part 1): Impact on Clinical Outcomes and Associated Health Care CostsAlistair Connell, Rosalind Raine, Peter Martin, et al.Complementary Medicine Research|February 27, 2022
Effects of Melatonin and Propolis Supplementation on Inflammation, Oxidative Stress, and Clinical Outcomes in Patients with Primary Pneumosepsis: A Randomized Controlled Clinical TrialNaseh Pahlavani, Mahsa Malekahmadi, Alireza Sedaghat, et al.Elife|September 20, 2022
Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valvesMelanie M Y Chan, Omid Sadeghi-Alavijeh, Filipa M Lopes, et al.Journal of the American Society of Nephrology : JASN|January 11, 2020
Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 GlomerulopathyAdam P Levine, Melanie M Y Chan, Omid Sadeghi-Alavijeh, et al.Journal of Nephrology|January 30, 2025
The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney diseaseElhussein A E Elhassan, Kane E Collins, Sophia Heneghan, et al.Nephron|November 27, 2025
Biallelic TMEM72 Variants in Patients with a Nephronophthisis-Like PhenotypeLaura R Claus, Rozemarijn Snoek, Siebren Faber, et al.Medrxiv : the Preprint Server for Health Sciences|June 4, 2026
The Biobank Rare Variant consortium powers the discovery of rare genetic associations through global collaborationDuncan S Palmer, Barney Hill, Sam Hodgson, et al.Medrxiv : the Preprint Server for Health Sciences|January 10, 2024
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project dataValentina Cipriani, Letizia Vestito, Emma F Magavern, et al.Nature|February 26, 2025
Rare disease gene association discovery in the 100,000 Genomes ProjectValentina Cipriani, Letizia Vestito, Emma F Magavern, et al.Pageof 20