Personal information

United States

Activities

Employment (1)

Baylor College of Medicine: Houston, TX, US

2020-08-03 to present | Postdoctoral Associate (Molecular and Human Genetics)
Employment
Source: Self-asserted source
Esra YILDIZ BÖLÜKBAŞI

Education and qualifications (1)

Bogazici Universitesi: Istanbul, TR

2013-08-20 to 2018-06-30 | Ph.D Student (Molecular Biology and Genetics)
Education
Source: Self-asserted source
Esra YILDIZ BÖLÜKBAŞI

Works (11)

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
2022-11 | Journal article
Contributors: Esra Yıldız Bölükbaşı; Justyna A. Karolak; Przemyslaw Szafranski; Tomasz Gambin; Nicholas Willard; Steven H. Abman; Csaba Galambos; John P. Kinsella; Paweł Stankiewicz
Source: check_circle
Crossref

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
2022-05 | Journal article
Contributors: Esra Yıldız Bölükbaşı; Justyna A. Karolak; Przemyslaw Szafranski; Tomasz Gambin; Omer Murik; David A. Zeevi; Gheona Altarescu; Paweł Stankiewicz
Source: check_circle
Crossref

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

Genes &Diseases
2022-05-18 | Journal article
Part of ISSN: 2352-3042
Source: Self-asserted source
Esra YILDIZ BÖLÜKBAŞI

Do paternal deletions involving the FOXF1 locus on chromosome 16q24.1 manifest with more severe non-lung anomalies?

European journal of medical genetics
2022-05-06 | Journal article
Source: Self-asserted source
Esra YILDIZ BÖLÜKBAŞI

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

The EMBO Journal
2022-01-17 | Journal article
Contributors: Danilo Bilches Medinas; Sajid Malik; Esra Yıldız‐Bölükbaşı; Janina Borgonovo; Mirva J Saaranen; Hery Urra; Eduardo Pulgar; Muhammad Afzal; Darwin Contreras; Madison T Wright et al.
Source: check_circle
Crossref

Homozygous deletion of MYADML2 in cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles.

Journal of human genetics
2020-08-10 | Journal article
Source: Self-asserted source
Esra YILDIZ BÖLÜKBAŞI

Novel EDAR mutation in tooth agenesis and variable associated features.

European journal of medical genetics
2020-04-20 | Journal article
Source: Self-asserted source
Esra YILDIZ BÖLÜKBAŞI

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

Journal of medical genetics
2017-11-10 | Journal article
Source: Self-asserted source
Esra YILDIZ BÖLÜKBAŞI

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

American journal of medical genetics. Part A
2017-06-21 | Journal article
Source: Self-asserted source
Esra YILDIZ BÖLÜKBAŞI

Complex postaxial polydactyly types A and B with camptodactyly, hypoplastic third toe, zygodactyly and other digit anomalies caused by a novel GLI3 mutation.

European journal of medical genetics
2017-03-14 | Journal article
Source: Self-asserted source
Esra YILDIZ BÖLÜKBAŞI
grade
Preferred source (of 2)‎

RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly.

American journal of medical genetics. Part A
2015-09-03 | Journal article
Source: Self-asserted source
Esra YILDIZ BÖLÜKBAŞI