Select Publications
Preprints
, 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
, 2023, Dominant negative OTULIN Related Autoinflammatory Syndrome, http://dx.doi.org/10.1101/2023.03.24.23287549
, 2022, 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
, 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