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 · 910 citations · Full text

Translational Medicine, Dna Sequencing, Sequencing +8

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 · 302 citations · Full text

Vascular-anomaly Syndrome, Mendelian Disorder, Hereditary Hemorrhagic Telangiectasia +11

Pathogenic variants that alter protein code often disrupt splicing

Rachel Soemedi, Kamil J. Cygan, Christy L. Rhine et al. · Nature Genetics · 2017 · 252 citations

Genetics, Pathogenesis, Protein Code +5

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 · 213 citations

EIF2AK4 Mutations in Pulmonary Capillary Hemangiomatosis

D. Hunter Best, Kelli Sumner, Eric D. Austin et al. · CHEST Journal · 2013 · 212 citations · Full text

Pathology, Eif2ak4 Mutations, Pulmonary Fibrosis +7