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N. Morisada · SciRah

Researcher profile · Semantic Scholar

N. Morisada

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N. Morisada — researcher profile on SciRah

h-index: 24
Works: 162
Citations: 2,398

Most-cited papers

Genotype-phenotype correlations influence the response to angiotensin-targeting drugs in Japanese patients with male X-linked Alport syndrome.
Tomohiko Yamamura, T. Horinouchi, C. Nagano, Takashi Omori +16 more
2020Kidney International93 citations Open access
Semantic Scholar
Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5
Tomohiko Yamamura, T. Horinouchi, Tomomi Adachi, M. Terakawa +28 more
2020Nature Communications89 citations Open access
Semantic Scholar
Clinical and Genetic Characteristics in Patients With Gitelman Syndrome
J. Fujimura, K. Nozu, Tomohiko Yamamura, Shogo Minamikawa +13 more
2018Kidney International Reports64 citations Open access
Semantic Scholar
Detection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport Syndrome.
T. Horinouchi, K. Nozu, Tomohiko Yamamura, Shogo Minamikawa +26 more
2018Journal of the American Society of Nephrology63 citations Open access
Semantic Scholar
Clinical characteristics of HNF1B-related disorders in a Japanese population
C. Nagano, N. Morisada, K. Nozu, Koichi Kamei +25 more
2019Clinical and Experimental Nephrology50 citations Open access
Semantic Scholar
Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases
Atsushi Kondo, C. Nagano, Shinya Ishiko, Takashi Omori +16 more
2021Scientific Reports38 citations Open access
Semantic Scholar
Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome
Tomohiko Yamamura, K. Nozu, Shogo Minamikawa, T. Horinouchi +14 more
2019Molecular Genetics & Genomic Medicine36 citations Open access
Semantic Scholar
Association between the clinical presentation of congenital anomalies of the kidney and urinary tract (CAKUT) and gene mutations: an analysis of 66 patients at a single institution
Sho Ishiwa, Mai Sato, N. Morisada, K. Nishi +10 more
2019Pediatric nephrology (Berlin, West)33 citations
Semantic Scholar
Clinical and genetic variability of PAX2-related disorder in the Japanese population
Rini Rossanti, N. Morisada, K. Nozu, Koichi Kamei +11 more
2020Journal of Human Genetics32 citations Open access
Semantic Scholar
IGF2 Mutations: Report of Five Cases, Review of the Literature, and Comparison with H19/IGF2:IG-DMR Epimutations.
Yohei Masunaga, T. Inoue, Kaori Yamoto, Y. Fujisawa +14 more
2019Journal of Clinical Endocrinology and Metabolism30 citations Open access
Semantic Scholar
Detection of copy number variations by pair analysis using next-generation sequencing data in inherited kidney diseases
C. Nagano, K. Nozu, N. Morisada, M. Yazawa +16 more
2018Clinical and Experimental Nephrology28 citations Open access
Semantic Scholar
Phenotypes of SMA patients retaining SMN1 with intragenic mutation.
Yogik Onky Silvana Wijaya, Mawaddah Ar Rochmah, E. Niba, N. Morisada +18 more
2021Brain & development (Tokyo. 1979)24 citations Open access
Semantic Scholar
Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assay
T. Horinouchi, K. Nozu, Tomohiko Yamamura, Shogo Minamikawa +13 more
2019Scientific Reports24 citations Open access
Semantic Scholar
Genome analysis in sick neonates and infants: high-yield phenotypes and contribution of small copy number variations.
Hisato Suzuki, M. Nozaki, H. Yoshihashi, K. Imagawa +19 more
2022Jornal de Pediatria23 citations Open access
Semantic Scholar
Inherited salt‐losing tubulopathy: An old condition but a new category of tubulopathy
K. Nozu, Tomohiko Yamamura, T. Horinouchi, C. Nagano +5 more
2019Pediatrics International23 citations Open access
Semantic Scholar
Molecular assay for an intronic variant in NUP93 that causes steroid resistant nephrotic syndrome
Rini Rossanti, Akemi Shono, Kenichiro Miura, M. Hattori +14 more
2019Journal of Human Genetics23 citations Open access
Semantic Scholar
Detecting MUC1 variants in patients clinicopathologically diagnosed with ADTKD
Eri Okada, N. Morisada, T. Horinouchi, Hideki Fujii +22 more
2022Kidney International Reports22 citations Open access
Semantic Scholar
De novo NSF mutations cause early infantile epileptic encephalopathy
Hisato Suzuki, Takeshi Yoshida, N. Morisada, Tomoko Uehara +5 more
2019Annals of Clinical and Translational Neurology22 citations Open access
Semantic Scholar
Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population
N. Sakakibara, K. Nozu, Tomohiko Yamamura, T. Horinouchi +12 more
2022Journal of Human Genetics21 citations Open access
Semantic Scholar
Pathogenic evaluation of synonymous COL4A5 variants in X‐linked Alport syndrome using a minigene assay
T. Horinouchi, Tomohiko Yamamura, Shogo Minamikawa, C. Nagano +14 more
2020Molecular Genetics & Genomic Medicine21 citations Open access
Semantic Scholar
Phenotype–genotype correlation in patients with typical and atypical branchio-oto-renal syndrome
M. Masuda, Ayako Kanno, Kiyomitsu Nara, H. Mutai +10 more
2022Scientific Reports18 citations Open access
Semantic Scholar
Bardet–Biedl syndrome in two unrelated patients with identical compound heterozygous SCLT1 mutations
N. Morisada, R. Hamada, Kenichiro Miura, Ming Ye +3 more
2020CEN Case Reports16 citations Open access
Semantic Scholar
Clinical spectrum of male patients with OFD1 mutations
N. Sakakibara, N. Morisada, K. Nozu, Koji Nagatani +14 more
2018Journal of Human Genetics15 citations Open access
Semantic Scholar
Comparison of clinical and genetic characteristics between Dent disease 1 and Dent disease 2
N. Sakakibara, C. Nagano, Shinya Ishiko, T. Horinouchi +8 more
2020Pediatric nephrology (Berlin, West)14 citations Open access
Semantic Scholar
Development of ultra-deep targeted RNA sequencing for analyzing X-chromosome inactivation in female Dent disease
Shogo Minamikawa, K. Nozu, Yoshimi Nozu, Tomohiko Yamamura +16 more
2018Journal of Human Genetics14 citations Open access
Semantic Scholar
Two patients with PNKP mutations presenting with microcephaly, seizure, and oculomotor apraxia
M. Taniguchi-Ikeda, N. Morisada, H. Inagaki, Yuya Ouchi +16 more
2018Clinical Genetics14 citations
Semantic Scholar
A Japanese boy with NAA10-related syndrome and hypertrophic cardiomyopathy
A. Shishido, N. Morisada, K. Tominaga, H. Uemura +4 more
2020Human Genome Variation13 citations Open access
Semantic Scholar
Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes
Shinya Ishiko, N. Morisada, Atsushi Kondo, Sadayuki Nagai +15 more
2021Clinical and Experimental Nephrology12 citations Open access
Semantic Scholar
A Novel IFITM5 Variant Associated with Phenotype of Osteoporosis with Calvarial Doughnut Lesions: A Case Report
R. Mäkitie, M. Pekkinen, N. Morisada, D. Kobayashi +4 more
2021Calcified Tissue International12 citations Open access
Semantic Scholar
A novel truncating PAX2 mutation in a boy with renal coloboma syndrome with focal segmental glomerulosclerosis causing rapid progression to end-stage kidney disease
Ken Saida, Koichi Kamei, N. Morisada, M. Ogura +5 more
2019CEN Case Reports11 citations Open access
Semantic Scholar
IFT172 as the 19th gene causative of oral‐facial‐digital syndrome
Mamiko Yamada, Tomoko Uehara, Hisato Suzuki, Toshiki Takenouchi +5 more
2019American Journal of Medical Genetics. Part A11 citations
Semantic Scholar
A case of 17q12 deletion syndrome that presented antenatally with markedly enlarged kidneys and clinically mimicked autosomal recessive polycystic kidney disease
Misako Nakamura, Shoichiro Kanda, Y. Kajiho, N. Morisada +2 more
2021CEN Case Reports10 citations Open access
Semantic Scholar
Molecular mechanisms determining severity in patients with Pierson syndrome
Shogo Minamikawa, Saori Miwa, Tetsuji Inagaki, K. Nishiyama +20 more
2020Journal of Human Genetics10 citations Open access
Semantic Scholar
Identification of novel OCRL isoforms associated with phenotypic differences between Dent disease-2 and Lowe syndrome.
N. Sakakibara, T. Ijuin, T. Horinouchi, Tomohiko Yamamura +26 more
2021Nephrology, Dialysis and Transplantation9 citations
Semantic Scholar
MPPH syndrome with aortic coarctation and macrosomia due to CCND2 mutations
Tomohiro Sameshima, N. Morisada, Tsuyoshi Egawa, M. Kugo +1 more
2020Pediatrics International9 citations Open access
Semantic Scholar
Phenotypic differences and similarities of monozygotic twins with maturity‐onset diabetes of the young type 5
Y. Ohara, Y. Okada, Tomoko Yamada, Kenji Sugawara +7 more
2019Journal of Diabetes Investigation9 citations Open access
Semantic Scholar
A girl with CLOVES syndrome with a recurrent PIK3CA somatic mutation and pancreatic steatosis
Hiroaki Hanafusa, N. Morisada, T. Nomura, D. Kobayashi +6 more
2019Human Genome Variation9 citations Open access
Semantic Scholar
Phenotype and genotype of autosomal dominant tubulointerstitial kidney disease in a Japanese cohort
Yu Tanaka, C. Nagano, N. Sakakibara, Eri Okada +12 more
2025Clinical and Experimental Nephrology8 citations Open access
Semantic Scholar
Medullary Cystic Kidney Disease and Focal Segmental Glomerulosclerosis Caused by a Compound Heterozygous Mutation in TTC21B
Satoshi Hibino, N. Morisada, A. Takeda, Kazuki Tanaka +4 more
2020Internal medicine7 citations Open access
Semantic Scholar
Rapidly Progressive Nephronophthisis in a 2-Year-Old Boy with a Homozygous SDCCAG8 Mutation.
Yoshitaka Watanabe, S. Fujinaga, Koji Sakuraya, N. Morisada +2 more
2019Tohoku journal of experimental medicine7 citations Open access
Semantic Scholar
Dravet syndrome and hemorrhagic shock and encephalopathy syndrome associated with an intronic deletion of SCN1A.
Hiroaki Hanafusa, H. Yamaguchi, Hidehito Kondo, Miwako Nagasaka +9 more
2023Brain & development (Tokyo. 1979)6 citations Open access
Semantic Scholar
A case of Potter sequence with WT1 mutation
Miwa Yoshino, W. Shimabukuro, Minamura Takeichi, Junya Omura +7 more
2022CEN Case Reports6 citations Open access
Semantic Scholar
Detecting MUC1 Variants in Patients Clinicopathologically Diagnosed With Having Autosomal Dominant Tubulointerstitial Kidney Disease
Eri Okada, N. Morisada, T. Horinouchi, Hideki Fujii +22 more
2022Kidney International Reports6 citations Open access
Semantic Scholar
Heterozygous Urinary Abnormality-Causing Variants of COL4A3 and COL4A4 Affect Severity of Autosomal Recessive Alport Syndrome.
T. Horinouchi, Tomohiko Yamamura, C. Nagano, N. Sakakibara +8 more
2020Kidney3606 citations Open access
Semantic Scholar
Bardet-Biedl Syndrome Caused by Skipping of SCLT1 Complicated by Microvesicular Steatohepatitis
K. Horiuchi, T. Kogiso, Takaomi Sagawa, Taito Ito +6 more
2020Internal medicine5 citations Open access
Semantic Scholar
An Orofaciodigital Syndrome 1 Patient and Her Mother Carry the Same OFD1 Mutation but Have Different X Chromosome Inactivation Patterns
T. Iijima, N. Hayami, K. Takaichi, N. Morisada +5 more
2019Internal medicine5 citations Open access
Semantic Scholar
A child with TSC2/PKD1 contiguous gene deletion syndrome successfully treated with tolvaptan for rapidly enlarging renal cysts
Chika Muroga, Hiroki Yokoyama, Ryo Kinoshita, Daisuke Fujimori +5 more
2024CEN Case Reports4 citations Open access
Semantic Scholar
A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiency
Naoko Nakatani, Akihiro Tamura, Hiroaki Hanafusa, Nanako Nino +9 more
2024Human Genome Variation4 citations Open access
Semantic Scholar
Autosomal Dominant Tubulointerstitial Kidney Disease HNF1B With Maturity-Onset Diabetes of the Young: A Case Report With Kidney Biopsy
Y. Oba, Naoki Sawa, Hiroki Mizuno, J. Hoshino +6 more
2020Kidney Medicine4 citations Open access
Semantic Scholar
A case with somatic and germline mosaicism in COL4A5 detected by multiplex ligation-dependent probe amplification in X-linked Alport syndrome
Yuya Aoto, Kise Tomoo, K. Nakanishi, C. Nagano +8 more
2020CEN Case Reports4 citations Open access
Semantic Scholar

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K. Iijima×41
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K. Iijima — researcher profile on SciRah
K. Nozu×38
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K. Nozu — researcher profile on SciRah
Tomohiko Yamamura×25
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Tomohiko Yamamura — researcher profile on SciRah
C. Nagano×24
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N. Sakakibara — researcher profile on SciRah

T. Horinouchi×23

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Yuko Shima — researcher profile on SciRah

Shogo Minamikawa×15

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Shinya Ishiko×14

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