Pınar Bayrak‐Toydemir

机构：ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories (United States) · ORCID：0000-0001-9381-2478

发表论文 193 篇 · 总被引 8196 次 · h-index 45

代表论文

• The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change (2023 · Genetics in Medicine · 被引 137)
• Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group (2023 · Genetics in Medicine · 被引 77)
• Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans (2024 · The Journal of Experimental Medicine · 被引 41)
• Bi-allelic variants in INTS11 are associated with a complex neurological disorder (2023 · The American Journal of Human Genetics · 被引 40)
• HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder (2023 · The American Journal of Human Genetics · 被引 22)
• Investigation of the Genetic Determinants of Telangiectasia and Solid Organ Arteriovenous Malformation Formation in Hereditary Hemorrhagic Telangiectasia (HHT) (2024 · International Journal of Molecular Sciences · 被引 15)