Publications by authors named "Alan F Rubin"

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Evidence for variant classification from multiplexed functional assays.
Renee C Geck, Melinda K Wheelock, Rachel L Powell, Ziyu R Wang, Daniel L Holmes, Alan F Rubin

bioRxiv· November 2025

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MaveMD: A functional data resource for genomic medicine.
Abbye E McEwen, Jeremy Stone, Malvika Tejura, Pankhuri Gupta, Benjamin J Capodanno, Alan F Rubin

medRxiv· November 2025

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Multiplex and multimodal mapping of variant effects in secreted proteins via MultiSTEP.
Nicholas A Popp, Rachel L Powell, Melinda K Wheelock, Kristen J Holmes, Brendan D Zapp, Alan F Rubin

Nat Struct Mol Biol· October 2025

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Variant scoring tools for deep mutational scanning.
Hasan Çubuk, Xinyi Jin, Belinda Phipson, Joseph A Marsh, Alan F Rubin

Mol Syst Biol· October 2025

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VEFill: a model for accurate and generalizable deep mutational scanning score imputation across protein domains.
Polina V Polunina, Wolfgang Maier, Alan F Rubin

bioRxiv· August 2025

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Image-based, pooled phenotyping reveals multidimensional, disease-specific variant effects.
Sriram Pendyala, Katie Partington, Nicholas Bradley, Abbye E McEwen, Gwenneth Straub, Alan F Rubin

bioRxiv· July 2025

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Insights on improving accessibility and usability of functional data to unlock their potential for variant interpretation.
Min Seon Park, Runjun D Kumar, Cristian Ovadiuc, Andrew Folta, Abbye E McEwen, Alan F Rubin

Am J Hum Genet· June 2025

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Consultation informs strategies for improving the use of functional evidence in variant classification.
Rehan M Villani, Bronwyn Terrill, Emma Tudini, Maddison E McKenzie, Corrina C Cliffe, Alan F Rubin

Am J Hum Genet· June 2025

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Mapping MAVE data for use in human genomics applications.
Jeremy A Arbesfeld, Estelle Y Da, James S Stevenson, Kori Kuzma, Anika Paul, Alan F Rubin

Genome Biol· June 2025

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Gene-based calibration of high-throughput functional assays for clinical variant classification.
Daniel Zeiberg, Malvika Tejura, Abbye E McEwen, Shawn Fayer, Vikas Pejaver, Alan F Rubin

bioRxiv· May 2025

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Guidelines for releasing a variant effect predictor.
Benjamin J Livesey, Mihaly Badonyi, Mafalda Dias, Jonathan Frazer, Sushant Kumar, Alan F Rubin

Genome Biol· April 2025

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MaveDB 2024: a curated community database with over seven million variant effects from multiplexed functional assays.
Alan F Rubin, Jeremy Stone, Aisha Haley Bianchi, Benjamin J Capodanno, Estelle Y Da

Genome Biol· January 2025

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Insights on improving accessibility and usability of functional data to unlock its potential for variant interpretation.
Min Seon Park, Runjun D Kumar, Cristian Ovadiuc, Andrew Folta, Abbye E McEwen, Alan F Rubin

medRxiv· January 2025

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Multiplex, multimodal mapping of variant effects in secreted proteins.
Nicholas A Popp, Rachel L Powell, Melinda K Wheelock, Kristen J Holmes, Brendan D Zapp, Alan F Rubin

bioRxiv· January 2025

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Using multiplexed functional data to reduce variant classification inequities in underrepresented populations.
Moez Dawood, Shawn Fayer, Sriram Pendyala, Mason Post, Divya Kalra, Alan F Rubin

Genome Med· December 2024

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Consultation informs strategies to improve functional evidence use in variant classification.
Rehan M Villani, Bronwyn Terrill, Emma Tudini, Maddison E McKenzie, Corrina C Cliffe, Alan F Rubin

medRxiv· December 2024

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Deep mutational scanning of CYP2C19 in human cells reveals a substrate specificity-abundance tradeoff.
Gabriel E Boyle, Katherine A Sitko, Jared G Galloway, Hugh K Haddox, Aisha Haley Bianchi, Alan F Rubin

Genetics· November 2024

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Proinsulin C-peptide is a major source of HLA-DQ8 restricted hybrid insulin peptides recognized by human islet-infiltrating CD4 T cells.
Pushpak Bhattacharjee, Miha Pakusch, Matthew Lacorcia, Eleonora Tresoldi, Alan F Rubin

PNAS Nexus· November 2024

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Genomics 2 Proteins portal: a resource and discovery tool for linking genetic screening outputs to protein sequences and structures.
Seulki Kwon, Jordan Safer, Duyen T Nguyen, David Hoksza, Patrick May, Alan F Rubin

Nat Methods· October 2024

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A new way of looking at transcription factor assays.
Alan F Rubin

Mol Syst Biol· July 2024

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Mapping MAVE data for use in human genomics applications.
Jeremy A Arbesfeld, Estelle Y Da, James S Stevenson, Kori Kuzma, Anika Paul, Alan F Rubin

bioRxiv· June 2024

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Workshop report: the clinical application of data from multiplex assays of variant effect (MAVEs), 12 July 2023.
Sophie Allen, Alice Garrett, Lara Muffley, Shawn Fayer, Julia Foreman, Alan F Rubin

Eur J Hum Genet· May 2024

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Minimum information and guidelines for reporting a multiplexed assay of variant effect.
Melina Claussnitzer, Victoria N Parikh, Alex H Wagner, Jeremy A Arbesfeld, Carol J Bult, Alan F Rubin

Genome Biol· April 2024

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Defining and Reducing Variant Classification Disparities.
Moez Dawood, Shawn Fayer, Sriram Pendyala, Mason Post, Divya Kalra, Alan F Rubin

medRxiv· April 2024

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Guidelines for releasing a variant effect predictor.
Benjamin J Livesey, Mihaly Badonyi, Mafalda Dias, Jonathan Frazer, Sushant Kumar, Alan F Rubin

ArXiv· April 2024

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