Esra Yıldız Bölükbaşı

Homozygous mutation in <i>CEP19,</i> a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly

Esra Yıldız Bölükbaşı, Sara Mumtaz, Muhammad Afzal et al. · Journal of Medical Genetics · 2017 · 36 citations

Life Sciences, Genetics, Molecular Genetics +15

Mutation in protein disulfide isomerase A3 causes neurodevelopmental defects by disturbing endoplasmic reticulum proteostasis

Danilo B. Medinas, Sajid Malik, Esra Yıldız Bölükbaşı et al. · The EMBO Journal · 2021 · 29 citations · Full text

Life Sciences, Genetics, Molecular Biology +16

Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain

Esra Yıldız Bölükbaşı, Muhammad Afzal, Sara Mumtaz et al. · American Journal of Medical Genetics Part A · 2017 · 23 citations

Life Sciences, Genetics, Molecular Genetics +17

Ultra-conserved non-coding sequences within the FOXF1 enhancer are critical for human lung development

Przemysław Szafrański, Tadeusz Majewski, Esra Yıldız Bölükbaşı et al. · Genes & Diseases · 2022 · 21 citations · Full text

Life Sciences, Developmental Biology, Genetics +12

Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic <scp>SNV</scp> in a lung‐specific enhancer in <i>trans</i> to the frameshifting <scp><i>TBX4</i></scp> variant

Esra Yıldız Bölükbaşı, Justyna A. Karolak, Przemysław Szafrański et al. · American Journal of Medical Genetics Part A · 2022 · 13 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16