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BMC Nephrology|August 7, 2012
Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinicCaroline Robinson, Thomas F Hiemstra, Deborah Spencer, et al.European Journal of Human Genetics : EJHG|December 21, 2018
Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasiaThomas R W Nixon, Allan Richards, Laura K Towns, et al.Clinical Journal of the American Society of Nephrology : CJASN|October 29, 2011
Characterization of a recurrent in-frame UMOD indel mutation causing late-onset autosomal dominant end-stage renal failureGraham D Smith, Caroline Robinson, Andrew P Stewart, et al.Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association|December 18, 2018
Pruritus Is Common and Undertreated in Patients With Primary Biliary Cholangitis in the United KingdomVinod S Hegade, George F Mells, Holly Fisher, et al.Journal of the American Society of Nephrology : JASN|June 4, 2015
Vascular Endothelial Growth Factor C for Polycystic Kidney DiseasesJennifer L Huang, Adrian S Woolf, Maria Kolatsi-Joannou, et al.Human Molecular Genetics|February 8, 2013
Multiple postnatal craniofacial anomalies are characterized by conditional loss of polycystic kidney disease 2 (Pkd2)Roman H Khonsari, Atsushi Ohazama, Ramin Raouf, et al.Plos Genetics|December 4, 2018
Amino acid residues in five separate HLA genes can explain most of the known associations between the MHC and primary biliary cholangitisRebecca Darlay, Kristin L Ayers, George F Mells, et al.Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|October 23, 2019
Fumarate Metabolic Signature for the Detection of Reed Syndrome in HumansRuth T Casey, Mary A McLean, Benjamin G Challis, et al.The Journal of Clinical Investigation|August 27, 2024
Quantifying variant contributions in cystic kidney disease using national-scale whole-genome sequencingOmid Sadeghi-Alavijeh, Melanie My Chan, Gabriel T Doctor, et al.Scandinavian Journal of Gastroenterology|May 5, 2012
Fine mapping and replication of genetic risk loci in primary sclerosing cholangitisBrijesh Srivastava, George F Mells, Heather J Cordell, et al.Pageof 5