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BMJ (Clinical Research Ed.)|November 4, 2021
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort studyKatherine R Schon, Rita Horvath, Wei Wei, et al.American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|December 28, 2024
Clinical Spectrum and Prognosis of Atypical Autosomal Dominant Polycystic Kidney Disease Caused by Monoallelic Pathogenic Variants of IFT140Nikola Zagorec, Alizée Calamel, Margaux Delaporte, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 26, 2022
OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasisAmar J Majmundar, Eugen Widmeier, John F Heneghan, et al.Kidney International|May 26, 2020
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1Eric Olinger, Patrick Hofmann, Kendrah Kidd, et al.Journal of Multimorbidity and Comorbidity|February 3, 2025
Building ADMISSION - A research collaborative to transform understanding of multiple long-term conditions for people admitted to hospitalMiles D Witham, Victoria Bartle, Sue Bellass, et al.The Journal of Clinical Investigation|May 27, 2020
Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndromeBrooke L Latour, Julie C Van De Weghe, Tamara Ds Rusterholz, et al.Nature Genetics|February 22, 2005
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulinEdgar A Otto, Bart Loeys, Hemant Khanna, et al.Human Genetics|December 2, 2021
Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypesMohamed H Al-Hamed, Wesam Kurdi, Rubina Khan, et al.Gastroenterology|December 15, 2023
Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver DiseaseRia Schönauer, Dana Sierks, Melissa Boerrigter, et al.Kidney International|June 1, 2022
Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseasesFlorian J Wopperer, Karl X Knaup, Kira J Stanzick, et al.Pageof 52