Alicia B. Byrne

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

Vikas Pejaver, Alicia B. Byrne, Bing Feng et al. · The American Journal of Human Genetics · 2022 · 471 citations · Full text

Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup

Logan C. Walker, Miguel de la Hoya, George A. R. Wiggins et al. · The American Journal of Human Genetics · 2023 · 254 citations · Full text

Acmg/amp Framework, Systems Biology, Functional Genomics +9

ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification

Leslie G. Biesecker, Alicia B. Byrne, Steven M Harrison et al. · The American Journal of Human Genetics · 2023 · 71 citations · Full text

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

Alicia B. Byrne, Peer Arts, Thuong Ha et al. · Nature Medicine · 2023 · 54 citations · Full text

Pathogenic variants in <i>MDFIC</i> cause recessive central conducting lymphatic anomaly with lymphedema

Alicia B. Byrne, Pascal Brouillard, Drew L. Sutton et al. · Science Translational Medicine · 2022 · 39 citations · Full text