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Clinical and Experimental Nephrology|February 20, 2025
Phenotype and genotype of autosomal dominant tubulointerstitial kidney disease in a Japanese cohortYu Tanaka, China Nagano, Nana Sakakibara, et al.CEN Case Reports|June 18, 2026
Membranous nephropathy secondary to very early-onset inflammatory bowel disease in a 3-year-old boy: case reportShuhei Aoyama, Tomohiko Yamamura, Tomoko Horinouchi, et al.Kidney International Reports|June 9, 2025
Comprehensive Splice Pattern Analysis for Previously Reported OCRL Splicing Variants and Their Phenotypic ContributionsRini Rossanti, Eri Okada, Nana Sakakibara, et al.Journal of Human Genetics|February 10, 2022
Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese populationNana Sakakibara, Kandai Nozu, Tomohiko Yamamura, et al.CEN Case Reports|May 29, 2026
A deep intronic IFT172 variant causing pseudoexon inclusion identified by whole-genome sequencing in nephronophthisisPerry Martel Sy, Minato Baba, Kaori Fujiwara, et al.Kidney International Reports|January 10, 2022
Last Nucleotide Substitutions of COL4A5 Exons Cause Aberrant SplicingYuya Aoto, Tomoko Horinouchi, Tomohiko Yamamura, et al.Kidney International Reports|January 1, 2019
Clinical and Genetic Characteristics in Patients With Gitelman SyndromeJunya Fujimura, Kandai Nozu, Tomohiko Yamamura, et al.Scientific Reports|September 5, 2019
Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assayTomoko Horinouchi, Kandai Nozu, Tomohiko Yamamura, et al.Nephrology (Carlton, Vic.)|September 30, 2025
Association Between Multicystic Dysplastic Kidney and the Local Renin-Angiotensin-Aldosterone System: A Pilot Study of a New BiomarkerShingo Ishimori, Shinya Ishiko, Junya Fujimura, et al.Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|August 12, 2024
Genotype and X-chromosome inactivation are associated with disease severity in females with X-linked Alport syndromeRyota Suzuki, Nana Sakakibara, Sae Murakami, et al.Pageof 12