Ohsuke Migita

机构：St. Marianna University School of Medicine · ORCID：0000-0002-4276-6018

发表论文 70 篇 · 总被引 3760 次 · h-index 19

代表论文

• Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS- CHST14 ) (2021 · Journal of Medical Genetics · 被引 43)
• A novel TP63 variant in a patient with ankyloblepharon-ectodermal defect–cleft lip/palate syndrome and Rapp–Hodgkin syndrome-like ectodermal dysplasia (2022 · Human Genome Variation · 被引 16)
• Neurological insights on two siblings with GM3 synthase deficiency due to novel compound heterozygous ST3GAL5 variants (2023 · Brain and Development · 被引 10)
• Loss of function in NSD2 causes DNA methylation signature similar to that in Wolf-Hirschhorn syndrome (2024 · Genetics in Medicine Open · 被引 6)
• Intestinal outcome of bone marrow transplantation for monogenic inflammatory bowel disease (2021 · Pediatrics International · 被引 6)
• An approach for improvement of the accuracy of cancer gene panel testing (2024 · International Journal of Clinical Oncology · 被引 5)