Research graph
References from Probing Genomic Foundation Models with Splice-Variant Perturbations. Local targets link to admitted publications; unresolved targets remain external evidence.
The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10
10.1093/brain/awad080 · 2023 · External reference
The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands
10.1093/brain/awac395 · 2023 · External reference
10.1371/journal.pone.0253987
10.1371/journal.pone.0253987 · External reference
Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes
10.1093/brain/awae324 · 2025 · External reference
10.1038/s41431-021-00959-x
10.1038/s41431-021-00959-x · External reference
OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database
10.1186/s13023-019-1187-1 · 2019 · External reference
10.1016/j.cell.2018.12.015
10.1016/j.cell.2018.12.015 · External reference
10.1038/s41586-025-10014-0
10.1038/s41586-025-10014-0 · External reference
10.1038/s41588-024-02053-6
10.1038/s41588-024-02053-6 · External reference
10.64898/2025.12.22.695963
10.64898/2025.12.22.695963 · External reference
Genome modelling and design across all domains of life with Evo 2
10.1038/s41586-026-10176-5 · 2026 · External reference
10.1093/gigascience/giaf132
10.1093/gigascience/giaf132 · External reference
10.1016/j.gim.2021.09.001
10.1016/j.gim.2021.09.001 · External reference
10.1038/s41588-022-01293-8
10.1038/s41588-022-01293-8 · External reference
10.1093/bioinformatics/btaf467
10.1093/bioinformatics/btaf467 · External reference
10.1038/nature11247
10.1038/nature11247 · External reference
10.1101/gr.263186.120
10.1101/gr.263186.120 · External reference
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations
10.1186/s13023-017-0641-1 · 2017 · External reference
A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy
2002 · External reference
Benchmarking pre-trained genomic language models for RNA sequence-related predictive applications
10.1038/s41467-025-66899-y · 2025 · External reference
Unresolved reference
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