Büşranur Çavdarlı

Neuromuscular disease genetics in under-represented populations: increasing data diversity

Lindsay A. Wilson, William L. Macken, Luke Perry et al. · Brain · 2023 · 30 citations · Full text

Life Sciences, Genetics, Neurology +13

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

Reza Maroofian, Büşranur Çavdarlı, Florence Riccardi et al. · Genetics in Medicine · 2021 · 28 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Uncontrolled inflammation of the nervous system

Deniz Yüksel, Kader Karlı Oğuz, Ebru Azapağası et al. · Neurology Clinical Practice · 2018 · 15 citations · Full text

Life Sciences, Neurology, Neuroscience +13

Optical coherence tomography-angiographic vascular densities in Familial Mediterranean Fever (FMF) Patients with M694V Mutations

Cemal Çavdarlı, Büşranur Çavdarlı, Burcu Polat Gültekin · Ophthalmic Genetics · 2020 · 13 citations

Medicine, Ophthalmology, Vision Science +17

High diagnostic yield of targeted next‐generation sequencing panel as a first‐tier molecular test for the patients with myopathy or muscular dystrophy

Büşranur Çavdarlı, Özlem Yayıcı Köken, Saide Betül Arslan Satılmış et al. · Annals of Human Genetics · 2022 · 12 citations

Medicine, Genetics, Molecular Genetics +16