Pinar Bayrak‐Toydemir

Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia

Viktor Lukacs, Jayanti Mathur, Rong Mao et al. · Nature Communications · 2015 · 300 citations · Full text

A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7

Pinar Bayrak‐Toydemir, Jamie McDonald, Nurten Akarsu et al. · American Journal of Medical Genetics Part A · 2006 · 235 citations

Allelic Variant, Hht3 Locus, Mendelian Disorder +13

<i>RASA1</i> somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome

Colleen Macmurdo, Whitney Wooderchak‐Donahue, Pinar Bayrak‐Toydemir et al. · American Journal of Medical Genetics Part A · 2016 · 103 citations

Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2

Minna Pekkinen, Lorenzo D. Botto, Petra Henning et al. · JCI Insight · 2019 · 77 citations · Full text

Sclerostin, Genetics, Genetic Epidemiology +18

The spectrum of <i>DNMT3A</i> variants in Tatton–Brown–Rahman syndrome overlaps with that in hematologic malignancies

Wei Shen, Jennifer Heeley, Colleen M. Carlston et al. · American Journal of Medical Genetics Part A · 2017 · 48 citations