Publications by authors named "Douglas Fowler"

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Multiplexed assays of variant effect for clinical variant interpretation.
Abbye E McEwen, Malvika Tejura, Shawn Fayer, Lea M Starita, Douglas M Fowler

Nat Rev Genet· February 2026

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Identification of affinity-optimized peptide binders of a viral protease for chemical genetic applications.
Fernando Banales-Mejia, Emily M Dieter, Kyler J Radmall, Glenna W Foight, Douglas M Fowler

Bioorg Med Chem Lett· February 2026

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The IGVF catalog-from genetic variation to function.
Daofeng Li, Shane Liu, Pedro R Assis, Mingjie Li, Shengcheng Dong, Douglas M Fowler

Nucleic Acids Res· December 2025

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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, Douglas M Fowler

bioRxiv· November 2025

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Saturation genome editing of resolves VUS and provides insight into BRCA1-BARD1 tumor suppression.
Ivan Woo, Silvia Casadei, Matthew W Snyder, Nahum T Smith, Sabrina Best, Douglas M Fowler

medRxiv· November 2025

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Editing stem cell genomes at scale to measure variant effects in diverse cell and genetic contexts.
Shawn Fayer, Riddhiman K Garge, Melissa Hopkins, Clayton E Friedman, Abby V McGee, Douglas M Fowler

medRxiv· 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, Douglas M Fowler

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, Douglas M Fowler

Nat Struct Mol Biol· October 2025

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The functional landscape of coding variation in the familial hypercholesterolemia gene .
Daniel R Tabet, Atina G Coté, Megan C Lancaster, Jochen Weile, Ashyad Rayhan, Douglas M Fowler

Science· October 2025

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Multiplex design and discovery of proximity handles for programmable proteome editing.
Chase C Suiter, Green Ahn, Melodie Chiu, Yi Fu, Shayan Sadre, Douglas M Fowler

bioRxiv· October 2025

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STARCall integrates image stitching, alignment, and read calling to enable scalable analysis of in situ sequencing data.
Nicholas J Bradley, Sriram Pendyala, Katie Partington, Douglas M Fowler

bioRxiv· October 2025

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Imprecision medicine: Systematic gaps in reporting variants of uncertain significance (VUS) and their reclassifications.
Andrew Folta, Adriana E Sedeño Cortés, Pankhuri Gupta, Abbye E McEwen, Eric Y Kao, Douglas M Fowler

Genet Med· September 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, Douglas M Fowler

bioRxiv· July 2025

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Sceptic: pseudotime analysis for time-series single-cell sequencing and imaging data.
Gang Li, Hyeon-Jin Kim, Sriram Pendyala, Ran Zhang, Jean-Philippe Vert, Douglas M Fowler

Genome Biol· July 2025

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Image-based identification and isolation of micronucleated cells to dissect cellular consequences.
Lucian DiPeso, Sriram Pendyala, Heather Z Huang, Douglas M Fowler, Emily M Hatch

Elife· June 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, Douglas M Fowler

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, Douglas M Fowler

Am J Hum Genet· June 2025

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The quantitative impact of 3'UTRs on gene expression.
Jessica D West, Hannah J Smith, Luyen Tien Vu, Elizabeth A Fogarty, Kenneth A Matreyek, Douglas M Fowler

Nucleic Acids Res· June 2025

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A complete map of human cytosolic degrons and their relevance for disease.
Vasileios Voutsinos, Kristoffer E Johansson, Fia B Larsen, Martin Grønbæk-Thygesen, Nicolas Jonsson, Douglas M Fowler

bioRxiv· May 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, Douglas M Fowler

bioRxiv· May 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, Douglas M Fowler

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, Douglas M Fowler

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, Douglas M Fowler

bioRxiv· January 2025

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A missense variant effect map for the human tumor-suppressor protein CHK2.
Marinella Gebbia, Daniel Zimmerman, Rosanna Jiang, Maria Nguyen, Jochen Weile, Douglas M Fowler

Am J Hum Genet· 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, Douglas M Fowler

medRxiv· December 2024

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