Nour Gazzaz

机构：King Abdulaziz University · ORCID：0000-0001-5434-4501

发表论文 17 篇 · 总被引 159 次 · h-index 4

代表论文

• The GA4GH Phenopacket schema defines a computable representation of clinical data (2022 · Nature Biotechnology · 被引 113)
• Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment (2023 · npj Genomic Medicine · 被引 18)
• The practice of genomic medicine: A delineation of the process and its governing principles (2023 · Frontiers in Medicine · 被引 8)
• The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice (2022 · Genetics in Medicine · 被引 7)
• Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz–Jeghers syndrome? (2022 · American Journal of Medical Genetics Part A · 被引 4)
• Familial Hypomagnesemia With Secondary Hypocalcemia: A Case Report (2021 · Cureus · 被引 4)