Kenjiro Kosaki

Professor

Keio University

Japan

Research Interests

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About

Kenjiro Kosaki is a Professor at Keio University in Japan. His research focuses on human genetics, particularly related to intellectual disabilities, genetic disorders, and the implications of chromosomal rearrangements. Recent articles highlight his work on ARID1A gene variants, RHOA-associated disorders, and complex genetic conditions such as VACTERL association and pontocerebellar hypoplasia.

Articles (14)

ARID1A gene variants and fetal hydrocephalus: First evidence of mRNA decay escape

Year:

2025

RHOA-associated disorder can be non-mosaic

Year:

2025

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

Year:

2024

SALL4 deletion and kidney and cardiac defects associated with VACTERL association

Year:

2024

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

Year:

2023

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

Year:

2022

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

Year:

2022

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

Year:

2022

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

Year:

2022

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

Year:

2022

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

Year:

2022

Frequent FGFR3 and Ras Gene Mutations in Skin Tags or Acrochordons

Year:

2021

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

Year:

2021

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

Year:

2021

Collaborators (8)

Hiromi Hirata

Professor

Aoyama Gakuin University

JAPAN

Akiharu Kubo

Professor

Kobe University Graduate School of Medicine

JAPAN

Tomoko Kawai

National Institute of Child Health and Human Development

JAPAN

Masayuki Amagai

-

JAPAN

Toshiki Takenouchi

-

JAPAN

Atsuko Noguchi

Akita University Graduate School of Medicine

JAPAN

Hiroyuki Adachi

Akita University Graduate School of Medicine

JAPAN

Fuyuki Miya

Associate Professor

Keio University

JAPAN

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