Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies
2019 · Pediatric Rheumatology · 56 citations
https://doi.org/10.1186/s12969-019-0349-y
O
Ortal Barel
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Ortal Barel is an academic researcher from Tel Aviv University. The author has contributed to research in topics: Immunodeficiency and Autoimmune Disorders & Genomics and Rare Diseases & Genetics and Neurodevelopmental Disorders. The author has an h-index of 27, co-authored 102 publications.
ORCID: 0000-0003-1168-9758Papers by this author
worksA single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies
2021 · Scientific Reports · 26 citations
https://doi.org/10.1038/s41598-021-98646-w
Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease
2020 · Molecular Genetics and Metabolism Reports · 23 citations
https://doi.org/10.1016/j.ymgmr.2020.100631
Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities
2022 · Genetics in Medicine · 11 citations
https://doi.org/10.1016/j.gim.2022.07.019
Diagnostic Utility of Exome Sequencing Among Israeli Children With Kidney Failure
2023 · Kidney International Reports · 11 citations
https://doi.org/10.1016/j.ekir.2023.07.019
A novel mutation in FNIP1 associated with a syndromic immunodeficiency and cardiomyopathy
2024 · Immunogenetics · 3 citations
https://doi.org/10.1007/s00251-024-01359-3
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