Hirofumi Ohashi - Genetic Mutations

Author Information

Hirofumi Ohashi is currently affiliated with the Division of Medical Genetics at the Saitama Children's Medical Center in Saitama, Japan. His research primarily focuses on the genetic basis of various syndromes and conditions, utilizing advanced genetic techniques such as massively parallel genome sequencing and RNA analyses. The geographical focus of his work is in Japan, but his contributions are recognized globally in the field of medical genetics.

Research Contributions

Hirofumi Ohashi has made significant contributions to the understanding of genetic syndromes, particularly through case reports and studies on genetic mutations and deletions. His work includes investigating the phenotypic and mutational spectrum of syndromes such as Robinow syndrome and von Hippel-Lindau-associated tumors. Ohashi has also explored innovative genetic correction techniques, such as iPSC reprogramming for aneuploidy correction in autosomal trisomy syndromes. His research is pivotal in advancing diagnostic approaches for skeletal ciliopathies and other genetic disorders.

Aliases

Hirofumi Ohashi is also known by several aliases in academic publications, including H Ohashi and H. Ohashi. These variations are used interchangeably in his published work.

Publication and Citation Metrics

Metric	Value
Citation Count	9143
H-index	48
Paper Count	227

Publications:

Adapted whole-body surveillance for von Hippel-Lindau-associated tumors in 3p deletion syndrome with VHL deletion: A case report.

DOI: 10.1002/pbc.29732

Year: 2022

Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.

DOI: 10.1002/humu.24375

Year: 2022

iPSC reprogramming-mediated aneuploidy correction in autosomal trisomy syndromes

DOI: 10.1371/journal.pone.0264965

Year: 2022

De novo heterozygous variants in KIF5B cause kyphomelic dysplasia.

DOI: 10.1111/cge.14133

Year: 2022

High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses

DOI: 10.1038/s10038-021-00925-x

Year: 2021

20p11.23-p11.21 deletion in a child with hyperinsulinemic hypoglycemia and GH deficiency: A case report

DOI: 10.1297/cpe.30.133

Year: 2021

Large deletion in 6q containing the TNFAIP3 gene associated with autoimmune lymphoproliferative syndrome.

DOI: 10.1016/j.clim.2021.108853

Year: 2021

A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorder

DOI: 10.1038/s41439-021-00178-2

Year: 2021

Hypoplasia of abdominal wall muscles following massive fetal persistent chylous ascites without anemia

DOI: 10.1093/omcr/omab039

Year: 2021

Survey On Disclosing Information To Children With Genetic Conditions And Their Siblings In Japan

DOI: 10.21203/rs.3.rs-1046073/v1

Year: 2021

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How Does Substitution Occur?

How is HbS Inherited?

What is Polymerase Chain Reaction (PCR)?

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Should Genetic Mutations Be Patented?

What is the Future of Genetic Data Analysis?

Can Genetic Testing Help?

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