Pınar Bayrak‐Toydemir
Sanford Health(US)University of Utah(US)ARUP Laboratories (United States)(US)University Pathologists(US)ARUP Laboratories (United States)(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Vascular Anomalies and Treatments, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Tracheal and airway disorders
Most-Cited Works
- → ACMG clinical laboratory standards for next-generation sequencing(2013)914 cited
- → Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era(2015)732 cited
- → Hereditary hemorrhagic telangiectasia: An overview of diagnosis, management, and pathogenesis(2011)386 cited
- → BMP9 Mutations Cause a Vascular-Anomaly Syndrome with Phenotypic Overlap with Hereditary Hemorrhagic Telangiectasia(2013)304 cited
- → Pathogenic variants that alter protein code often disrupt splicing(2017)261 cited
- → Genotype–phenotype correlation in hereditary hemorrhagic telangiectasia: Mutations and manifestations*(2006)215 cited