Ari Horton

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Adam Bournazos, Lisa G. Riley, Shobhana Bommireddipalli et al. · Genetics in Medicine · 2021 · 104 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +17

Clinical features and outcomes in carriers of pathogenic desmoplakin variants

Alessio Gasperetti, Richard Carrick, Alexandros Protonotarios et al. · European Heart Journal · 2024 · 66 citations · Full text

Medicine, Cardiology, Genetics +11

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Alicia B. Byrne, Peer Arts, Thuong Ha et al. · Nature Medicine · 2023 · 63 citations · Full text

Medicine, Genetics, Molecular Genetics +17

A novel tool for arrhythmic risk stratification in desmoplakin gene variant carriers

Richard Carrick, Alessio Gasperetti, Alexandros Protonotarios et al. · European Heart Journal · 2024 · 58 citations · Full text

Medicine, Cardiology, Genetics +15

Gene selection for genomic newborn screening: Moving toward consensus?

Lilian Downie, Sophie E. Bouffler, David J. Amor et al. · Genetics in Medicine · 2024 · 57 citations · Full text

Medicine, Genetics, Molecular Genetics +14