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 · 307 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

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

Life Sciences, Genetics, Molecular Genetics +9

<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 · 106 citations

Medicine, Genetics, Molecular Medicine +17

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

Elena‐Raluca Nicoli, Mary Weston, Mary E. Hackbarth et al. · The American Journal of Human Genetics · 2019 · 97 citations · Full text

Life Sciences, Biochemistry, Cell Biology +12

Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2

Minna Pekkinen, Paulien A. Terhal, Lorenzo D. Botto et al. · JCI Insight · 2019 · 81 citations · Full text

Medicine, Genetics, Molecular Genetics +17