Genetics
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Genetics (Scholarly Publications)
Genetics (Scholarly Publications) -
Genetics (Theses and Dissertations)
Genetics (Theses and Dissertations)
Recent Submissions
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Gene duplication in the coral genus Acropora
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2024)Whole Genome Duplications (WGD) pose major evolutionary events, giving rise to increased gene diversity. They have often been associated with major changes e.g. mass extinctions. The coral genus Acropora is a reef-building ... -
Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability
(2023)The ABCA4 gene is the most frequently mutated Mendelian retinopathy-associated gene. Biallelic variants lead to a variety of pheno types, however, for thousands of cases the underlying variants remain unknown. Here, we aim ... -
Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients
(2023)Over 15% of probands in a large cohort of more than 1500 inherited retinal degeneration patients present with a clinical diagnosis of Stargardt disease (STGD1), a recessive form of macular dystrophy caused by biallelic ... -
Detection of pleiotropic repeat expansions and their oligogenic contribution to amyotrophic lateral sclerosis
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2023)This thesis aims to advance our understanding of the genetic mechanisms that contribute to amyotrophic lateral sclerosis (ALS). The focus is on investigating pleiotropy in genetic contributors to ALS by examining the ... -
Characterisation of the Genetic Mechanism Behind Floral Trichomes in Brassica rapa
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2023)In his seminal essay ?The Metamorphosis of Plants?, published in the 18th century, Johann Wolfgang von Goethe hypothesized that all above-ground organs of a plant, including floral organs, are derived from leaf-like ...