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Clinical and Experimental Nephrology|March 14, 2025
Genetic aspects of pediatric nephrotic syndrome and anti-nephrin antibodiesTomoko Horinouchi, Kandai Nozu, Kazumoto IijimaPediatric Nephrology (Berlin, Germany)|January 10, 2022
An updated view of the pathogenesis of steroid-sensitive nephrotic syndromeTomoko Horinouchi, Kandai Nozu, Kazumoto IijimaFrontiers in Medicine|February 25, 2022
The Contribution of <i>COL4A5</i> Splicing Variants to the Pathogenesis of X-Linked Alport SyndromeTomohiko Yamamura, Tomoko Horinouchi, Yuya Aoto, et al.Case Reports in Genetics|February 23, 2023
4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental DelayYukino Kawanami, Tomoko Horinouchi, Naoya Morisada, et al.Genes to Cells : Devoted to Molecular & Cellular Mechanisms|October 22, 2024
Investigation of exon skipping therapy in kidney organoids from Alport syndrome patients derived iPSCsKensuke Yabuuchi, Tomoko Horinouchi, Tomohiko Yamamura, et al.CEN Case Reports|February 2, 2024
A case of pseudo-Bartter/Gitelman syndrome caused by long-term laxative abuse, leading to end-stage kidney diseaseAtsushi Kondo, Kunihiko Yoshiya, Nana Sakakibara, et al.American Journal of Medical Genetics. Part A|April 30, 2019
Male CDPX2 patient with EBP mosaicism and asymmetrically lateralized skin lesions with strict midline demarcationTomoko Horinouchi, Naoya Morisada, Hiroyasu Uemura, et al.BMC Pediatrics|November 13, 2015
Yersinia pseudotuberculosis infection in Kawasaki disease and its clinical characteristicsTomoko Horinouchi, Kandai Nozu, Kiyoshi Hamahira, et al.CEN Case Reports|January 21, 2021
An extremely mild clinical course in a case with LAMB2-associated nephritis diagnosed with next-generation sequencingKoji Sakuraya, Kandai Nozu, Hitohiko Murakami, et al.Nature Reviews. Nephrology|March 12, 2026
'Missing' disease-causing variants in Alport syndromeJudy Savige, Adam M Bournazos, Tomoko Horinouchi, et al.Pageof 12