Personal information

Activities

Employment (1)

Keio University: TOKYO, TOKYO, JP

2011-06 to present | Professor (Center for Medical Genetics)
Employment
Source: Self-asserted source
Kenjiro Kosaki

Professional activities (1)

Japanese Teratology Society: Kyoto, JP

2019-07 to present | President
Membership
Source: Self-asserted source
Kenjiro Kosaki

Works (27)

De novo variants in UPF1 associated with intellectual disabilities: Human genetic and functional evidences using Drosophila model

European Journal of Medical Genetics
2024-12 | Journal article
Contributors: Daisuke Nakato; Yuri Yasue; Kohei Matsubara; Hisato Suzuki; Rika Kosaki; Toshiki Takenouchi; Mamiko Yamada; Fuyuki Miya; Toshiyuki Takano-Shimizu; Kenjiro Kosaki
Source: check_circle
Crossref

SALL4 deletion and kidney and cardiac defects associated with VACTERL association

Pediatric Nephrology
2024-08 | Journal article
Contributors: Daisuke Watanabe; Daisuke Nakato; Mamiko Yamada; Hisato Suzuki; Toshiki Takenouchi; Fuyuki Miya; Kenjiro Kosaki
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Crossref

SALL4 deletion and renal and cardiac defects associated with VACTERL association

2024-01-02 | Preprint
Contributors: Daisuke Watanabe; Daisuke Nakato; Mamiko Yamada; Hisato Suzuki; Toshiki Takenouchi; Fuyuki Miya; Kenjiro Kosaki
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Crossref

Precise definition of the breakpoints of an apparently balanced translocation between chromosome 3q26 and chromosome 7q36: Role of KMT2C disruption

Congenital Anomalies
2023-07 | Journal article
Contributors: Mamiko Yamada; Hisato Suzuki; Fuyuki Miya; Kiyotaka Kosugiyama; Takeshi Ujiie; Hidefumi Tonoki; Kenjiro Kosaki
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Crossref

PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing

2023-03-20 | Preprint
Contributors: Ryo Kurosawa; Kei Iida; Masahiko Ajiro; Tomonari Awaya; Mamiko Yamada; Kenjiro Kosaki; Masatoshi Hagiwara
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Crossref

Diagnosis of SLC25A46-related pontocerebellar hypoplasia in two siblings with fulminant neonatal course: role of postmortem CT and whole genomic analysis: a case report

BMC Neurology
2022-12 | Journal article
Contributors: Mamiko Yamada; Hisato Suzuki; Hiroyuki Adachi; Atsuko Noguchi; Fuyuki Miya; Tsutomu Takahashi; Kenjiro Kosaki
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Crossref

Deciphering complex rearrangements at the breakpoint of an apparently balanced reciprocal translocation t(4:18)(q31;q11.2)dn and at a cryptic deletion: Further evidence of TLL1 as a causative gene for atrial septal defect

American Journal of Medical Genetics Part A
2022-08 | Journal article
Contributors: Mamiko Yamada; Hisato Suzuki; Fuyuki Miya; Toshiki Takenouchi; Kenjiro Kosaki
Source: check_circle
Crossref

Global spread of a Japan-originated Delta lineage of SARS-CoV-2 after the Tokyo Olympics is most likely unrelated to the Olympics

Journal of Travel Medicine
2022-05-31 | Journal article
Contributors: Takako Shimura; Kenjiro Kosaki
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Crossref

The p.Thr395Met missense variant of NFIA found in a patient with intellectual disability is a defective variant

American Journal of Medical Genetics Part A
2022-04 | Journal article
Contributors: Yurie Ogura; Tomoko Uehara; Kota Ujibe; Hiroshi Yoshihashi; Mamiko Yamada; Hisato Suzuki; Toshiki Takenouchi; Kenjiro Kosaki; Hiromi Hirata
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Crossref

Early diagnosis of lateral meningocele syndrome in an infant without neurological symptoms based on genomic analysis

Child's Nervous System
2022-03 | Journal article
Contributors: Mamiko Yamada; Takeshi Arimitsu; Hisato Suzuki; Tomoru Miwa; Kenjiro Kosaki
Source: check_circle
Crossref

A patient with compound heterozygosity of SMPD4: Another example of utility of exome‐based copy number analysis in autosomal recessive disorders

American Journal of Medical Genetics Part A
2022-02 | Journal article
Contributors: Mamiko Yamada; Hisato Suzuki; Taiki Shima; Tomoko Uehara; Kenjiro Kosaki
Source: check_circle
Crossref

Frequent FGFR3 and Ras Gene Mutations in Skin Tags or Acrochordons

Journal of Investigative Dermatology
2021-11 | Journal article
Contributors: Satomi Aoki; Yoshiko Hirata; Tomoko Kawai; Kazuhiko Nakabayashi; Kenichiro Hata; Hisato Suzuki; Kenjiro Kosaki; Masayuki Amagai; Akiharu Kubo
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Crossref

Noonan syndrome‐like phenotype in a patient with heterozygous ERF truncating variant

Congenital Anomalies
2021-11 | Journal article
Contributors: Mamiko Yamada; Michinori Funato; Goro Kondo; Hisato Suzuki; Tomoko Uehara; Toshiki Takenouchi; Yoshiaki Sakamoto; Kenjiro Kosaki
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Crossref

Systematic identification of intron retention associated variants from massive publicly available transcriptome sequencing data

2021-10-07 | Preprint
Contributors: Yuichi Shiraishi; Ai Okada; Kenichi Chiba; Ikuko Omori; Raúl Nicolás Mateos; Naoko Iida; Hirofumi Yamauchi; Kenjiro Kosaki; Akihide Yoshimi
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Crossref

Direct visualization of the evolution of limb amputation in amnion rupture sequence in an extremely preterm infant born at 22 weeks

American Journal of Medical Genetics Part A
2021-09 | Journal article
Contributors: Mamiko Yamada; Takeshi Arimitsu; Asami Osada; Kenjiro Kosaki
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Crossref

Establishing intellectual disability as the key feature of patients with biallelic RNPC3 variants

American Journal of Medical Genetics Part A
2021-06 | Journal article
Contributors: Mamiko Yamada; Masae Ono; Tomohiro Ishii; Hisato Suzuki; Tomoko Uehara; Toshiki Takenouchi; Kenjiro Kosaki
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Crossref

Fork‐shaped mandibular incisors as a novel phenotype of LRP5‐associated disorder

American Journal of Medical Genetics Part A
2021-05 | Journal article
Contributors: Mamiko Yamada; Kazumi Kubota; Atsuro Uchida; Tatsuhiko Yagihashi; Masahito Kawasaki; Hisato Suzuki; Tomoko Uehara; Toshiki Takenouchi; Hiroshi Kurosaka; Kenjiro Kosaki
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Crossref

Role of chimeric transcript formation in the pathogenesis of birth defects

Congenital Anomalies
2021-05 | Journal article
Contributors: Mamiko Yamada; Hisato Suzuki; Akiko Watanabe; Tomoko Uehara; Toshiki Takenouchi; Seiji Mizuno; Kenjiro Kosaki
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Crossref

Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures

American Journal of Medical Genetics Part A
2021-04 | Journal article
Contributors: Hisato Suzuki; Mie Inaba; Mamiko Yamada; Tomoko Uehara; Toshiki Takenouchi; Seiji Mizuno; Kenjiro Kosaki; Motomichi Doi
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Crossref

Heterozygous nonsense variant of CHD8 in a patient with forme‐fruste Marfan syndrome and intellectual disability

Congenital Anomalies
2021-01 | Journal article
Contributors: Mamiko Yamada; Yu Yamaguchi; Tomoko Uehara; Tatsuhiko Yagihashi; Kenjiro Kosaki
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Crossref

Learning disability and myoclonic epilepsy associated with apparently synonymous but splice‐disrupting JMJD1C variant that led to 21 bp deletion of the transcript

American Journal of Medical Genetics Part A
2020-12 | Journal article
Contributors: Mamiko Yamada; Tatsuyuki Sokoda; Tomoko Uehara; Hisato Suzuki; Toshiki Takenouchi; Tatsuhiko Yagihashi; Yoshihiro Maruo; Kenjiro Kosaki
Source: check_circle
Crossref

Parallel detection of single nucleotide variants and copy number variants with exome analysis: Validation in a cohort of 700 undiagnosed patients

American Journal of Medical Genetics Part A
2020-11 | Journal article
Contributors: Hisato Suzuki; Mamiko Yamada; Tomoko Uehara; Toshiki Takenouchi; Kenjiro Kosaki
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Crossref

Consecutive medical exome analysis at a tertiary center: Diagnostic and health‐economic outcomes

American Journal of Medical Genetics Part A
2020-07 | Journal article
Contributors: Rika Kosaki; Masaya Kubota; Tomoko Uehara; Hisato Suzuki; Toshiki Takenouchi; Kenjiro Kosaki
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Crossref

Biallelic Mutations in the LSR Gene Cause a Novel Type of Infantile Intrahepatic Cholestasis

The Journal of Pediatrics
2020-06 | Journal article
Contributors: Tomoko Uehara; Mamiko Yamada; Shuichiro Umetsu; Hiroshi Nittono; Hisato Suzuki; Tomoo Fujisawa; Toshiki Takenouchi; Ayano Inui; Kenjiro Kosaki
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Crossref

Kosaki overgrowth syndrome: A newly identified entity caused by pathogenic variants in platelet‐derived growth factor receptor‐beta

American Journal of Medical Genetics Part C: Seminars in Medical Genetics
2019-12 | Journal article
Contributors: Toshiki Takenouchi; Hironobu Okuno; Kenjiro Kosaki
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Crossref

Further evidence of a causal association between AGO1, a critical regulator of microRNA formation, and intellectual disability/autism spectrum disorder

European Journal of Medical Genetics
2019-06 | Journal article
Contributors: Asami Sakaguchi; Yukio Yamashita; Tomohiro Ishii; Tomoko Uehara; Kenjiro Kosaki; Takao Takahashi; Toshiki Takenouchi
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Crossref

A paradoxical thrombogenic mutation in factor II at the target site of arthropod bleeding toxin

European Journal of Medical Genetics
2019-02 | Journal article
Contributors: Toshiki Takenouchi; Hiroyuki Shimada; Tomoko Uehara; Yae Kanai; Takao Takahashi; Kenjiro Kosaki
Source: check_circle
Crossref