Esra Yıldız-Bölükbaşı (Esra Yıldız Bölükbaşı)

Publication Activity (10 Years)

Years Active: 2021-2022
Publications (10 Years): 3

Top Topics

Cognitive Impairment

Hyaluronic Acid

Endoplasmic Reticulum

Low Birth Weight

Top Venues

Molecular genetics & genomic medicine

The EMBO journal

American journal of medical genetics. Part A

This page only lists publications with an associated author ORCID identifier.

Publications

Esra Yıldız-Bölükbaşı, Justyna A Karolak, Przemyslaw Szafranski, Tomasz Gambin, Omer Murik, David A Zeevi, Gheona Altarescu, Przemyslaw Szafranski
Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic SNV in a lung-specific enhancer in trans to the frameshifting TBX4 variant. American journal of medical genetics. Part A 188 (5) (2022)
Esra Yıldız-Bölükbaşı, Justyna A Karolak, Przemyslaw Szafranski, Tomasz Gambin, Nicholas Willard, Steven H Abman, Csaba Galambos, John P Kinsella, Przemyslaw Szafranski
High-level gonosomal mosaicism for a pathogenic non-coding CNV deletion of the lung-specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV. Molecular genetics & genomic medicine 10 (11) (2022)
Danilo B Medinas, Sajid Malik, Esra Yıldız-Bölükbaşı, Janina Borgonovo, Mirva J Saaranen, Hery Urra, Eduardo Pulgar, Muhammad Afzal, Darwin Contreras, Madison T Wright, Felipe Bodaleo, Gabriel Quiroz, Pablo Rozas, Sara Mumtaz, Rodrigo Díaz, Carlos Rozas, Felipe Cabral-Miranda, Ricardo Piña, Vicente Valenzuela, Ozgun Uyan, Christopher Reardon, Ute Woehlbier, Robert H Brown, Miguel Sena-Esteves, Christian Gonzalez-Billault, Bernardo Morales, Lars Plate, Lloyd W Ruddock, Miguel L Concha, Claudio Hetz, Aslıhan Tolun
Mutation in protein disulfide isomerase A3 causes neurodevelopmental defects by disturbing endoplasmic reticulum proteostasis. The EMBO journal 41 (2) (2021)