Nelson Martins
Doctoral Network PhD Student, at Elfride De Baere's Lab in Ghent, Belgium
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Email
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ProgRET - Understand, Diagnose and Treat Autosomal Dominant Retinal Diseases
ProgRET - Understand, Diagnose and Treat Autosomal Dominant Retinal Diseases
De Baere Lab Website
De Baere Lab Website
Team website of Elfride De Baere's research group. Prof. dr. Elfride De Baere leads the Ophthalmic and Developmental Genetics Unit of Ghent University. The focus of her research is both on inherited retinal dystrophies and developmental disorders.
ESHG-Young | Socials
ESHG-Young | Socials
European Society of Human Genetics-Young Committee
Scientific Publications
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa | medRxiv
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa | medRxiv
De novo and inherited dominant variants in genes encoding U4 and U6 small nuclear RNAs are identified in individuals with retinitis pigmentosa. The variants cluster at nucleotide positions distinct from those implicated in neurodevelopmental disorders.
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
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
Germline CDH1 pathogenic or likely pathogenic variants cause hereditary diffuse gastric cancer (HDGC). Once a genetic cause is identified, stomachs’
Previous Projects
Solve-RD – Solving the Unsolved Rare Diseases
Solve-RD – Solving the Unsolved Rare Diseases
Previous Labs
Ana Teresa-Maia's Lab - Functional Genomics of Cancer
Ana Teresa-Maia's Lab - Functional Genomics of Cancer
Carla Oliveira Lab - Expression Regulation in Cancer
Carla Oliveira Lab - Expression Regulation in Cancer
Carlos Caldas's Lab - Functional Genomics of Breast Cancer
Website is not available anymore
Carlos Caldas's Lab - Functional Genomics of Breast Cancer
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