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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.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 21, 2020
Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variantsJoanna Kennedy, David Goudie, Edward Blair, et al.Kidney International Reports|August 19, 2024
Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 YearsKushani Jayasinghe, Erik Biros, Trudie Harris, et al.Medrxiv : the Preprint Server for Health Sciences|May 19, 2025
Androgens mediate sexual dimorphism in Pilarowski-Bjornsson SyndromeKimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M Nodelman, et al.JAMA|June 24, 2020
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System, Sebastian Lunke, Stefanie Eggers, et al.Journal of Human Genetics|September 19, 2019
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patientsFutoshi Sekiguchi, Yoshinori Tsurusaki, Nobuhiko Okamoto, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2020
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patternsHannah Stamberger, Trine B Hammer, Elena Gardella, et al.Pageof 33