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Alicia B. Byrne

Broad Institute(US)

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48

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1.4K

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15

h-index

21

i10-index

Alicia B. Byrne is an academic researcher from Broad Institute. The author has contributed to research in topics: Genomics and Rare Diseases & Genomic variations and chromosomal abnormalities & Genetic Associations and Epidemiology. The author has an h-index of 15, co-authored 41 publications.

ORCID: 0000-0002-8141-1818

Research Topics

Genomics and Rare Diseases Genomic variations and chromosomal abnormalities Genetic Associations and Epidemiology BRCA gene mutations in cancer Prenatal Screening and Diagnostics

Papers by this author

works

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

2022 · The American Journal of Human Genetics · 471 citations

https://doi.org/10.1016/j.ajhg.2022.10.013

Vikas Pejaver Alicia B. Byrne Bing Feng Kymberleigh A. Pagel

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

2023 · The American Journal of Human Genetics · 254 citations

https://doi.org/10.1016/j.ajhg.2023.06.002

Logan C. Walker Miguel de la Hoya George A. R. Wiggins Amanda Lindy

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

2023 · The American Journal of Human Genetics · 71 citations

https://doi.org/10.1016/j.ajhg.2023.11.009

Leslie G. Biesecker Alicia B. Byrne Steven M Harrison Tina Pesaran

Paternal mosaicism for a novel <scp><i>PBX1</i></scp> mutation associated with recurrent perinatal death: Phenotypic expansion of the <scp><i>PBX1</i></scp>‐related syndrome

2020 · American Journal of Medical Genetics Part A · 19 citations

https://doi.org/10.1002/ajmg.a.61541

Peer Arts Jessica Garland Alicia B. Byrne Tristan Hardy

Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia

2021 · BMC Medical Genomics · 9 citations

https://doi.org/10.1186/s12920-021-00911-4

Carla De Angelis Alicia B. Byrne Rebecca Morrow Jinghua Feng

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

2023 · Nature Medicine · 0 citations

https://doi.org/10.1038/s41591-023-02487-1

Alicia B. Byrne Peer Arts Thuong Ha Karin S. Kassahn

Research topics

topics

Genomics and Rare Diseases

Genomic variations and chromosomal abnormalities

Genetic Associations and Epidemiology

BRCA gene mutations in cancer

Prenatal Screening and Diagnostics

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