Atsushi Fujita

机构：Yokohama City University · ORCID：0000-0003-1572-1014

发表论文 236 篇 · 总被引 4666 次 · h-index 37

代表论文

• Complete nanopore repeat sequencing of SCA27B (GAA- FGF14 ataxia) in Japanese (2024 · Journal of Neurology Neurosurgery & Psychiatry · 被引 16)
• Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability (2024 · Journal of Human Genetics · 被引 11)
• Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities (2024 · npj Genomic Medicine · 被引 4)
• Complex chromosomal 6q rearrangements revealed by combined long-molecule genomics technologies (2024 · Genomics · 被引 4)
• Biallelic TEDC1 variants cause a new syndrome with severe growth impairment and endocrine complications (2025 · European Journal of Human Genetics · 被引 3)
• Adolescent-onset epilepsy and deterioration associated with CAD deficiency: A case report (2024 · Brain and Development · 被引 3)