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Bioinformatics (Oxford, England)|April 3, 2024
Pacybara: accurate long-read sequencing for barcoded mutagenized allelic librariesJochen Weile, Gabrielle Ferra, Gabriel Boyle, et al.
Biorxiv : the Preprint Server for Biology|December 3, 2025
Systematic and proactive evaluation of AIRE missense variant effectsAnna Axakova, Amund H Berger, Warren van Loggerenberg, et al.
Biorxiv : the Preprint Server for Biology|March 3, 2023
Pacybara: Accurate long-read sequencing for barcoded mutagenized allelic librariesJochen Weile, Gabrielle Ferra, Gabriel Boyle, et al.
American Journal of Human Genetics|September 16, 2025
Landscapes of missense variant impact for human superoxide dismutase 1Anna Axakova, Megan Ding, Atina G Cote, et al.
Biorxiv : the Preprint Server for Biology|March 10, 2025
Landscapes of missense variant impact for human superoxide dismutase 1Anna Axakova, Megan Ding, Atina G Cote, et al.
American Journal of Human Genetics|September 20, 2023
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variationWarren van Loggerenberg, Shahin Sowlati-Hashjin, Jochen Weile, et al.
Biorxiv : the Preprint Server for Biology|February 17, 2023
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variationWarren van Loggerenberg, Shahin Sowlati-Hashjin, Jochen Weile, et al.
Biorxiv : the Preprint Server for Biology|August 12, 2025
Comprehensively Testing the Function of Missense Variation in the STK11 Tumour SuppressorDaniel Zimmerman, Atina Cote, Warren van Loggerenberg, et al.
Human Genetics|August 7, 2024
Assessing predictions on fitness effects of missense variants in HMBS in CAGI6Jing Zhang, Lisa Kinch, Panagiotis Katsonis, et al.
Biorxiv : the Preprint Server for Biology|February 23, 2026
A scalable approach to resolving variants of uncertain significanceMalvika Tejura, Yile Chen, Abbye E McEwen, et al.
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