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Kenji Shimizu · SciRah

Researcher profile · Semantic Scholar

Kenji Shimizu

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Kenji Shimizu — researcher profile on SciRah

h-index: 5
Works: 22
Citations: 73

Most-cited papers

Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing
Takuya Hiraide, Kenji Shimizu, Sachiko Miyamoto, Kazushi Aoto +5 more
2022Journal of Human Genetics17 citations
Semantic Scholar
Al‐Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2‐Related Disorders
Dominyka Batkovskyte, Fiona McKenzie, F. Taylan, P. O. Simsek-Kiper +28 more
2023Journal of Bone and Mineral Research16 citations Open access
Semantic Scholar
A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome
Takuya Hiraide, Kenji Shimizu, Yoshinori Okumura, Sachiko Miyamoto +3 more
2023Journal of Human Genetics11 citations
Semantic Scholar
De novo heterozygous variants in KIF5B cause kyphomelic dysplasia
T. Itai, Zheng Wang, G. Nishimura, H. Ohashi +24 more
2022Clinical Genetics10 citations
Semantic Scholar
Identification of 5’ untranslated region variants in genes involved in neurodevelopmental disorders
Taiju Hayashi, Sachiko Miyamoto, Yusaku Endo, Kenji Shimizu +8 more
2026Journal of Human Genetics6 citations Open access
Semantic Scholar
Loss of function in NSD2 causes DNA methylation signature similar to that in Wolf-Hirschhorn syndrome
T. Kawai, Shiori Kinoshita, Y. Takayama, Eriko Ohnishi +22 more
2024Genetics in medicine open5 citations Open access
Semantic Scholar
PPP1R12A-related urogenital and/or brain malformation syndrome in a 46,XX individual with Müllerian duct anomalies: expanding the phenotypic spectrum
Yuki Murai, Jun Horie, Kenji Shimizu, Kosuke Yamada +4 more
2026Clinical Pediatric Endocrinology3 citations Open access
Semantic Scholar
Homozygous Microdeletion Involving Exon 1 of ERCC8 and NDUFAF2 With Uniparental Isodisomy of Chromosome 5
Kaori Yamoto, Kosuke Yamada, Kenji Shimizu, Sachiko Miyamoto +2 more
2024Molecular Genetics & Genomic Medicine2 citations Open access
Semantic Scholar
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing
Kazuyuki Komatsu, Mitsuhiro Kato, Kazuo Kubota, S. Fukumura +14 more
2024Scientific Reports1 citations Open access
Semantic Scholar
DNA methylation signature in NSD2 loss-of-function variants appeared similar to that in Wolf-Hirschhorn syndrome
T. Kawai, Shiori Kinoshita, Y. Takayama, Eriko Onishi +22 more
2023bioRxiv1 citations Open access
Semantic Scholar
A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorder
K. Yamazawa, Kenji Shimizu, H. Ohashi, Hidenori Haruna +6 more
2021Human Genome Variation1 citations Open access
Semantic Scholar
Genetic diagnosis of sibling cases initiated by identification of outlier gene expression using transcriptome analysis of urine-derived cells
Toru Takagi, Sachiko Miyamoto, Kenji Shimizu, Yasuhiko Tanaka +3 more
2026Journal of Human Genetics0 citations
Semantic Scholar
Early Neonatal Administration of Vosoritide in Achondroplasia: A Report of Two Cases
S. Sano, Yuki Murai, Kenji Shimizu, Yasunori Nagai +2 more
2026American Journal of Medical Genetics. Part A0 citations
Semantic Scholar
Recurrent RNU4-2 n.64_65insT variant in ReNU syndrome identified in exome-negative cases.
Takuya Hiraide, Kenji Shimizu, Taiju Hayashi, Kaori Yamoto +9 more
2026Brain & development (Tokyo. 1979)0 citations
Semantic Scholar
A Japanese familial spastic paraplegia associated with a missense UBQLN2 variant
Kazuki Watanabe, Tatsuya Ema, Kenji Shimizu, Kosuke Yamada +2 more
2025Journal of Human Genetics0 citations
Semantic Scholar
Compound heterozygous ZNF335 variants in a patient with microcephaly, refractory epilepsy, and severe developmental delay: A case report and literature review
Kaori Yamoto, Sachiko Miyamoto, Kosuke Yamada, M. Nakashima +2 more
2025Congenital Anomalies0 citations
Semantic Scholar
TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis
Kaori Yamoto, Fumiko Kato, M. Yamoto, K. Fukumoto +3 more
2023Congenital Anomalies0 citations Open access
Semantic Scholar
A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorder
K. Yamazawa, Kenji Shimizu, H. Ohashi, Hidenori Haruna +6 more
2021Human Genome Variation0 citations Open access
Semantic Scholar
Attitudes toward and current status of disclosure of secondary findings from next-generation sequencing: a nation-wide survey of clinical genetics professionals in Japan
Mio Tsuchiya, Takahiro Yamada, R. Akaishi, H. Hamanoue +17 more
2020Journal of Human Genetics0 citations Open access
Semantic Scholar
国際標準に立脚した奇形症候群領域の診療指針に関する学際的・網羅的検討アンジェルマン症候群の教育状況の実態調査に基づく教師向け冊子の作成
Hirofumi Ohashi, Kenji Shimizu, Nishimaki Kengo
20160 citations
Semantic Scholar
Shimizu et al. Microarray and FISH-based Genotype-Phenotype Analysis of 22 Japanese Patients with Wolf-Hirschhorn Syndrome
Kenji Shimizu, K. Wakui, T. Kosho, N. Okamoto +16 more
20140 citations
Semantic Scholar
Novel mutations of CDKN1C in Japanese patients with Beckwith-Wiedemann syndrome
H. Yatsuki, K. Higashimoto, Kosuke Jozaki, Kayoko Koide +10 more
2013Genes & Genomics0 citations
Semantic Scholar

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