Alicia B. Byrne

Biochemistry, Genetics and Molecular BiologyNeuroscience

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 7%percentile

0.104Author DataRank

Indexed papers

2in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 2 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

medRxiv(2024)10.1101/2024.11.19.24317561

Top 78%

0.104DataRank

Top 78%1 citations

Vanessa Gitau, Alicia B. Byrne, Pamela Ajuyah, Marie Balzotti, Jonathan S. Berg +58 more

Papers

Driven by 19 papers — median percentile 11. Top paper: “The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships”.

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

medRxiv(2024)10.1101/2024.11.19.24317561

Top 78%

0.104DataRank

Top 78%1 citations

Vanessa Gitau, Alicia B. Byrne, Pamela Ajuyah, Marie Balzotti, Jonathan S. Berg +58 more

Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability

Journal of Medical Genetics(2021)10.1136/jmedgenet-2020-107462

N/A

0DataRank · unranked

10 citations

Alistair T. Pagnamenta, Matteo P. Ferla, Jonathan Gadian, Brian Hon‐Yin Chung, Marcus C.Y. Chan +33 more

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

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.10.013

N/A

0DataRank · unranked

548 citations

Alicia B. Byrne, Bing Feng, Kymberleigh A. Pagel, Sean D. Mooney, Rachel Karchin +20 more

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

Genetics in Medicine(2022)10.1016/j.gim.2022.04.010

N/A

0DataRank · unranked

21 citations

Marieke Joosten, Caroline Alby, Tania Attié‐Bitach, Kelly L. Gilmore, Christèle Dubourg +50 more

Evidence-based calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for clinical use of PP3/BP4 criteria

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.03.17.484479

N/A

0DataRank · unranked

34 citations

Alicia B. Byrne, Bing Feng, Kymberleigh A. Pagel, Sean D. Mooney, Rachel Karchin +9 more

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

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.06.002

N/A

0DataRank · unranked

315 citations

Miguel de la Hoya, George A. R. Wiggins, Amanda Lindy, Lisa M. Vincent, Michael T. Parsons +28 more

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

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.11.009

N/A

0DataRank · unranked

87 citations

Alicia B. Byrne, Steven M Harrison, Tina Pesaran, Alejandro A. Schäffer, Brian H. Shirts +3 more

Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group

Genetics in Medicine(2023)10.1016/j.gim.2023.101036

N/A

0DataRank · unranked

70 citations

Marcie Steeves, Pınar Bayrak‐Toydemir, Katherine A. Benson, Bradley P. Coe, Laura K. Conlin +42 more

APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP

medRxiv(2023)10.1101/2023.02.24.23286431

N/A

0DataRank · unranked

17 citations

Miguel de la Hoya, George A. R. Wiggins, Amanda Lindy, Lisa M. Vincent, Michael T. Parsons +11 more

Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations

Genetics in Medicine(2024)10.1016/j.gim.2024.101213

N/A

0DataRank · unranked

16 citations

Vikas Pejaver, Timothy Bergquist, Leslie G. Biesecker, Alicia B. Byrne, Emily A.W. Nadeau +21 more

A guide to gene–disease relationships in nephrology

Nature Reviews Nephrology(2024)10.1038/s41581-024-00900-7

N/A

0DataRank · unranked

11 citations

Alicia B. Byrne, Matthew G. Sampson, Rachel Lennon, Andrew Mallett, Zornitza Stark

Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.09.17.611902

N/A

0DataRank · unranked

13 citations

Sarah L. Stenton, Emily A.W. Nadeau, Alicia B. Byrne, Marc S. Greenblatt, Steven M. Harrison +8 more

Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria

Genetics in Medicine(2025)10.1016/j.gim.2025.101402

N/A

0DataRank · unranked

45 citations

Sarah L. Stenton, Emily A.W. Nadeau, Alicia B. Byrne, Marc S. Greenblatt, Steven M. Harrison +20 more

Mondo: integrating disease terminology across communities

Genetics(2025)10.1093/genetics/iyaf215

N/A

0DataRank · unranked

16 citations

Sabrina Toro, Nicolas A Matentzoglu, Joseph E Flack, Kathleen R. Mullen, Harshad Hegde +95 more

Complexities in Variant Analysis, Classification, and Interpretation in Kidney Disease–Related Genes

Seminars in Nephrology(2025)10.1016/j.semnephrol.2025.151646

N/A

0DataRank · unranked

2 citations

Michelle S. Bloom, Alicia B. Byrne, Vivek Charu, Maggie Westemeyer

Missense ABI2 variants linked to a neurodevelopmental disorder with intellectual disability, epilepsy, hypoplasia of the corpus callosum, and white matter abnormalities

medRxiv(2025)10.1101/2025.05.19.25327541

N/A

0DataRank · unranked

1 citations

Caleb Yang, Carolyn Le, Amanda M. Elashoff, Kendall C. Parks, Clare Bakker +18 more

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships

Genetics in Medicine Open(2025)10.1016/j.gimo.2025.103429

Top 100%

0DataRank

Top 100%0 citations

Vanessa Gitau, Alicia B. Byrne, Pamela Ajuyah, Marie Balzotti, Jonathan S. Berg +58 more

Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5

Neuron(2020)10.1016/j.neuron.2020.01.030

N/A

0DataRank · unranked

27 citations

Connor Kenny, Abbe Lai, Dilenny M. Gonzalez, Edward Stronge, Gabrielle Séjourné +18 more

Piloting an Interpretive External Quality Assurance Model for Genomic Testing for Childhood Syndromes and Intellectual Disability

Journal of Molecular Diagnostics(2025)10.1016/j.jmoldx.2025.11.006

N/A

0DataRank · unranked

0 citations

Sze Yee Chai, Alicia B. Byrne, Dimitar N. Azmanov, John Christodoulou, Matilda Haas +7 more

Alicia B. Byrne

Indexed papers

Top data-sharing exemplar

Papers