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Please note that Researcher Profiles will be undergoing scheduled maintenance on Wednesday 7th Oct, from 8:00am to 9:00am. During this time, the Researcher Profiles system will be unavailable. We apologise for any inconvenience and appreciate your understanding.

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Preprints

Trivellin G; Sánchez-Gaya V; Grasso A; Pasińska M; Stratakis CA; Milnes D; Kirk EP; Beckers A; Lania AG; Pétrossians P; Rada-Iglesias A; Franke M; Daly AF, 2025, Distinguishing benign from pathogenic duplications involving GPR101 and VGLL1-adjacent enhancers in the clinical setting with the bioinformatic tool POSTRE., http://dx.doi.org/10.1101/2025.06.27.25329768

Freeman L; Kirk E; Scully JL; Delatycki M, 2022, Views of healthcare professionals on the inclusion of genes associated with non-syndromic hearing loss in reproductive genetic carrier screening, http://dx.doi.org/10.21203/rs.3.rs-1726721/v1

Davidson S; Shibata Y; Collard S; Laohamonthonku P; Kong K; Sun J; CIRCA ; AADRY ; Li MWY; Russell C; van Beek A; Kirk EP; Walsh R; Gray PE; Komander D; Masters SL, Dominant negative OTULIN Related Autoinflammatory Syndrome, http://dx.doi.org/10.1101/2023.03.24.23287549

Marjaneh M; Kirk EP; Patrick R; Alankerage D; Humphreys DT; Del Monte-Nieto G; Cornejo-Paramo P; Janbandhu V; Doan TB; Dunwoodie SL; Wong ES; Moran C; Martin ICA; Thomson PC; Harvey RP, Quantitative trait and transcriptome analysis of genetic complexity underpinning cardiac interatrial septation in mice using an advanced intercross line, http://dx.doi.org/10.1101/2022.10.31.514499


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