Amy Turriff

机构：National Institutes of Health, National Human Genome Research Institute · ORCID：0000-0002-8065-7445

发表论文 70 篇 · 总被引 1189 次 · h-index 17

代表论文

• Prenatal cfDNA Sequencing and Incidental Detection of Maternal Cancer (2024 · New England Journal of Medicine · 被引 46)
• Vestibular phenotype‐genotype correlation in a cohort of 90 patients with Usher syndrome (2020 · Clinical Genetics · 被引 38)
• Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates (2022 · JCI Insight · 被引 26)
• Variants of LRP2 , encoding a multifunctional cell‐surface endocytic receptor, associated with hearing loss and retinal dystrophy (2023 · Clinical Genetics · 被引 23)
• Prenatal DNA Sequencing for Fetal Aneuploidy Also Detects Maternal Cancer: Importance of Timely Workup and Management in Pregnant Women (2022 · Journal of Clinical Oncology · 被引 16)
• Clinical Features of Optic Disc Drusen in an Ophthalmic Genetics Cohort (2020 · Journal of Ophthalmology · 被引 15)