Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia
2019 · Human Molecular Genetics · 15 citations
https://doi.org/10.1093/hmg/ddz268
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Angela Bahr
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Angela Bahr is an academic researcher from University of Zurich. The author has contributed to research in topics: Retinal Development and Disorders & RNA regulation and disease & Glaucoma and retinal disorders. The author has an h-index of 13, co-authored 27 publications.
ORCID: 0000-0001-9759-2599Papers by this author
worksSNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
2024 · Nature Communications · 10 citations
https://doi.org/10.1038/s41467-024-45933-5
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders
2022 · npj Genomic Medicine · 5 citations
https://doi.org/10.1038/s41525-022-00316-x
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature
2025 · European Journal of Human Genetics · 4 citations
https://doi.org/10.1038/s41431-025-01798-w
A Large Deletion With a Large Impact: Homozygous 5,600 bp Deletion of the GALNT3 Gene Causing Hyperphosphatemic Tumoral Calcinosis
2026 · Kidney Medicine · 0 citations
https://doi.org/10.1016/j.xkme.2026.101241
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