Nelson Martins

Nelson Martins has been a member of Linktree for 1 year and joined in May 2025. The social media accounts linked to from Nelson Martins are: • LinkedIn • Email • Bluesky Besides social media accounts, NelsonMartins.UGent has populated their site with: • ProgRET - Understand, Diagnose and Treat Autosomal Dominant Retinal Diseases • De Baere Lab Website • ESHG-Young | Socials • Genome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Identification of Candidate Causative Variants | JCO Precision Oncology • De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa • Combined loss of CDH1 and downstream regulatory sequences drive early-onset diffuse gastric cancer and increase penetrance of hereditary diffuse gastric cancer | Gastric Cancer | Springer Nature Link • Solve-RD – Solving the Unsolved Rare Diseases • Ana Teresa-Maia's Lab - Functional Genomics of Cancer • Carla Oliveira Lab - Expression Regulation in Cancer • RetiGene, a comprehensive gene atlas for inherited retinal diseases • The Role of Noncoding Variants in Heritable Disease - ScienceDirect • Interpreting the impact of noncoding structural variation in neurodevelopmental disorders - ScienceDirect • Comparative 3D genome analysis between neural retina and retinal pigment epithelium reveals differential cis-regulatory interactions at retinal disease loci • Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes | Nature Communications • Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa • CiFi: Accurate long-read chromatin conformation capture with low-input requirements | bioRxiv • 1. Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations • 2. Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations • 3. Comparative 3D genome analysis between neural retina and retinal pigment epithelium reveals differential cis-regulatory interactions at retinal disease loci • 4. High-resolution genome topology of human retina uncovers super enhancer-promoter interactions at tissue-specific and multifactorial disease loci • 5. The Genotype-Tissue Expression (GTEx) project • 6. Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration • 7. CiFi: Accurate long-read chromatin conformation capture with low-input requirements