Pınar Bayrak‐Toydemir

ACMG clinical laboratory standards for next-generation sequencing

Heidi L. Rehm, Sherri J. Bale, Pınar Bayrak‐Toydemir et al. · Genetics in Medicine · 2013 · 930 citations · Full text

Life Sciences, Biomedical Informatics, Molecular Biology +14

BMP9 Mutations Cause a Vascular-Anomaly Syndrome with Phenotypic Overlap with Hereditary Hemorrhagic Telangiectasia

Whitney Wooderchak‐Donahue, Jamie McDonald, Brendan O’Fallon et al. · The American Journal of Human Genetics · 2013 · 306 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Pathogenic variants that alter protein code often disrupt splicing

Rachel Soemedi, Kamil J. Cygan, Christy L. Rhine et al. · Nature Genetics · 2017 · 270 citations

Life Sciences, Genetics, Molecular Biology +12

Genotype–phenotype correlation in hereditary hemorrhagic telangiectasia: Mutations and manifestations*

Pınar Bayrak‐Toydemir, Jamie McDonald, Boaz A. Markewitz et al. · American Journal of Medical Genetics Part A · 2006 · 218 citations

Life Sciences, Genetics, Pathology +12

EIF2AK4 Mutations in Pulmonary Capillary Hemangiomatosis

D. Hunter Best, Kelli Sumner, Eric D. Austin et al. · CHEST Journal · 2013 · 216 citations · Full text

Medicine, Genetics, Molecular Genetics +8