Izabela Karbassi

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 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 5 papers. Top paper: “Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods”.

Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods

Human Mutation(2021)10.1002/humu.24302

N/A

0DataRank · unranked

16 citations

Lora Jh Bean, Izabela Karbassi, Katelynn Beattie, Thierry Bienvenu, Hope Bonin +13 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

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

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

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