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American Journal of Medical Genetics. Part A|July 5, 2022
Detecting pathogenic deep intronic variants in Gitelman syndromeRini Rossanti, Tomoko Horinouchi, Nana Sakakibara, et al.Clinical and Experimental Nephrology|March 24, 2020
Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1Tomohiko Inoue, China Nagano, Masafumi Matsuo, et al.Biomarker Insights|November 3, 2025
Latent Intrarenal Renin-Angiotensin-Aldosterone System Activation Could Persist Until Early School-Aged in Children with a History of Low Birth WeightShingo Ishimori, Shinya Ishiko, Junya Fujimura, et al.Brain & Development|May 9, 2025
The first case of Al-Raqad syndrome in Japan is associated with a homozygous DCPS exonic variant resulting in aberrant splicingHaruka Nozaki, Nana Sakakibara, Hiroaki Hanafusa, et al.Kidney International Reports|February 24, 2025
COL4A5 Intronic Variants at Third to Fifth Nucleotides Cause Alport SyndromeHideaki Kitakado, Tomoko Horinouchi, Shuhei Aoyama, et al.Kidney International Reports|September 14, 2023
Systematic Review of Clinical Characteristics and Genotype-Phenotype Correlation in LAMB2-Associated DiseaseRyota Suzuki, Nana Sakakibara, Yuta Ichikawa, et al.Journal of Human Genetics|March 24, 2020
Clinical and genetic variability of PAX2-related disorder in the Japanese populationRini Rossanti, Naoya Morisada, Kandai Nozu, et al.Scientific Reports|November 25, 2018
The utility of urinary CD80 as a diagnostic marker in patients with renal diseasesShogo Minamikawa, Kandai Nozu, Shingo Maeta, et al.CEN Case Reports|June 29, 2026
Nephrin-IgG co-localization expression in pediatric steroid-resistant nephrotic syndrome: a case series from IndonesiaRini Rossanti, Ahmedz Widiasta, Nana Sakakibara, et al.Journal of Diabetes Investigation|December 21, 2021
Maturity-onset diabetes of the young type 5, presenting as diabetic ketoacidosis with alkalemia: A report of a caseAkiko Hayakawa-Iwamoto, Daisuke Aotani, Yuki Shimizu, et al.Pageof 12