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Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2021
Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics)Amy Nisselle, Monika Janinski, Melissa Martyn, et al.Eclinicalmedicine|January 25, 2021
Medium-term effects of SARS-CoV-2 infection on multiple vital organs, exercise capacity, cognition, quality of life and mental health, post-hospital dischargeBetty Raman, Mark Philip Cassar, Elizabeth M Tunnicliffe, et al.BMJ Open|December 26, 2025
Prophylaxis for venous thromboembolism in traumatic brain injury: protocol for a randomised controlled trialFarhad Pirouzmand, Francois Mathieu, Alireza Mansouri, et al.BMJ Open Gastroenterology|October 7, 2025
Effectiveness and safety of upadacitinib in a real-world cohort of patients with Crohn's disease in the UK: a multicentre retrospective cohort studyYaa Danso, Chandni Radia, Alex Elford, et al.American Journal of Human Genetics|July 30, 2021
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolutionZornitza Stark, Rebecca E Foulger, Eleanor Williams, et al.American Journal of Human Genetics|January 17, 2025
Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndromeKarim Karimi, Yael Lichtenstein, Jack Reilly, et al.Kidney International|January 21, 2026
Genotype-phenotype characteristics and disease progression of FAN1-related karyomegalic tubulointerstitial nephropathyMichelle Clince, Elhussein A E Elhassan, Kendrah Kidd, et al.Journal of Crohn'S & Colitis|August 20, 2025
Is 2nd JAKi treatment for UC worth the effort? A retrospective, multi-Centre UK studyChandni Radia, Yaa Danso, Susan Ritchie, et al.Journal of Medical Genetics|March 2, 2022
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndromeMarco Angelozzi, Anirudha Karvande, Arnaud N Molin, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 25, 2018
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variantsJoanna Kennedy, David Goudie, Edward Blair, et al.Pageof 45