Jolanta Wierzba
Researcher Next ID · RN-041312
Researcher · Biochemistry, Genetics and Molecular Biology
Gdansk, Poland
- Works count
- 680
- Citation count
- 2,495
- H-index
- 26
- i10-index
- 57
Research interests
Publications
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study
The Lancet Diabetes & Endocrinology · 2020 · 10.1016/s2213-8587(20)30153-4
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies
Genetics in Medicine · 2019 · 10.1038/s41436-019-0433-1
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement
Nature Reviews Genetics · 2018 · https://doi.org/10.1038/s41576-018-0031-0
Phenotypes and genotypes in individuals with SMC1A variants
American Journal of Medical Genetics Part A · 2017 · 10.1002/ajmg.a.38279
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance
Human Molecular Genetics · 2014 · https://doi.org/10.1093/hmg/ddu002
Current projects
No projects listed.