Rachel Sayuri Honjo
ORCID：0000-0002-9223-7341
发表论文 104 篇 · 总被引 1567 次 · h-index 21
代表论文
- Imagawa–Matsumoto syndrome: SUZ12 ‐related overgrowth disorder (2023 · Clinical Genetics · 被引 21)
- Biallelic structural variations within FGF12 detected by long-read sequencing in epilepsy (2023 · Life Science Alliance · 被引 19)
- Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome (2023 · Journal of Medical Genetics · 被引 17)
- Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability (2024 · Journal of Human Genetics · 被引 11)
- Whole genome sequencing as a first‐tier diagnostic test for infants in neonatal intensive care units: A pilot study in Brazil (2024 · American Journal of Medical Genetics Part A · 被引 8)
- Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome (2022 · Genomics · 被引 7)