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Alicia B Byrne

Showing results (1-10 of 24) with videos related to

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Seminars in Nephrology|August 7, 2025
Complexities in Variant Analysis, Classification, and Interpretation in Kidney Disease-Related GenesMaggie Westemeyer, Michelle S Bloom, Alicia B Byrne, et al.
Nature Reviews. Nephrology|October 24, 2024
A guide to gene-disease relationships in nephrologyZornitza Stark, Alicia B Byrne, Matthew G Sampson, et al.
American Journal of Human Genetics|December 16, 2023
ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classificationLeslie G Biesecker, Alicia B Byrne, Steven M Harrison, et al.
The Journal of Molecular Diagnostics : JMD|December 20, 2025
Piloting an Interpretive External Quality Assurance Model for Genomic Testing for Childhood Syndromes and Intellectual DisabilityBen Lundie, Sze Yee Chai, Alicia B Byrne, et al.
Medrxiv : the Preprint Server for Health Sciences|March 18, 2024
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendationsSarah L Stenton, Vikas Pejaver, Timothy Bergquist, et al.
Biorxiv : the Preprint Server for Biology|September 30, 2024
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteriaTimothy Bergquist, Sarah L Stenton, Emily A W Nadeau, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 14, 2025
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteriaTimothy Bergquist, Sarah L Stenton, Emily A W Nadeau, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 20, 2024
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendationsSarah L Stenton, Vikas Pejaver, Timothy Bergquist, et al.
Human Mutation|September 22, 2018
matchbox: An open-source tool for patient matching via the Matchmaker ExchangeHarindra Arachchi, Monica H Wojcik, Benjamin Weisburd, et al.
American Journal of Human Genetics|November 22, 2022
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteriaVikas Pejaver, Alicia B Byrne, Bing-Jian Feng, et al.
Pageof 3

Showing results (1-10 of 24) with videos related to

Sort By:
Pageof 3
Seminars in Nephrology|August 7, 2025
Complexities in Variant Analysis, Classification, and Interpretation in Kidney Disease-Related GenesMaggie Westemeyer, Michelle S Bloom, Alicia B Byrne, et al.
Nature Reviews. Nephrology|October 24, 2024
A guide to gene-disease relationships in nephrologyZornitza Stark, Alicia B Byrne, Matthew G Sampson, et al.
American Journal of Human Genetics|December 16, 2023
ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classificationLeslie G Biesecker, Alicia B Byrne, Steven M Harrison, et al.
The Journal of Molecular Diagnostics : JMD|December 20, 2025
Piloting an Interpretive External Quality Assurance Model for Genomic Testing for Childhood Syndromes and Intellectual DisabilityBen Lundie, Sze Yee Chai, Alicia B Byrne, et al.
Medrxiv : the Preprint Server for Health Sciences|March 18, 2024
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendationsSarah L Stenton, Vikas Pejaver, Timothy Bergquist, et al.
Biorxiv : the Preprint Server for Biology|September 30, 2024
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteriaTimothy Bergquist, Sarah L Stenton, Emily A W Nadeau, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 14, 2025
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteriaTimothy Bergquist, Sarah L Stenton, Emily A W Nadeau, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 20, 2024
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendationsSarah L Stenton, Vikas Pejaver, Timothy Bergquist, et al.
Human Mutation|September 22, 2018
matchbox: An open-source tool for patient matching via the Matchmaker ExchangeHarindra Arachchi, Monica H Wojcik, Benjamin Weisburd, et al.
American Journal of Human Genetics|November 22, 2022
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteriaVikas Pejaver, Alicia B Byrne, Bing-Jian Feng, et al.
Pageof 3