Publications by authors named "Steven Brenner"

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Reader Response: Incidence and Prevalence of Early-Onset Dementia in Finland.
Steven R Brenner

Neurology· August 2025

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Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria.
Timothy Bergquist, Sarah L Stenton, Emily A W Nadeau, Alicia B Byrne, Marc S Greenblatt, Steven E Brenner

Genet Med· June 2025

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Assessing predictions on fitness effects of missense variants in HMBS in CAGI6.
Jing Zhang, Lisa Kinch, Panagiotis Katsonis, Olivier Lichtarge, Milind Jagota, Steven E Brenner

Hum Genet· March 2025

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Assessing the predicted impact of single amino acid substitutions in calmodulin for CAGI6 challenges.
Paola Turina, Giuditta Dal Cortivo, Carlos A Enriquez Sandoval, Emil Alexov, David B Ascher, Steven E Brenner

Hum Genet· March 2025

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Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancers.
Yile Chen, Kyoungyeul Lee, Junwoo Woo, Dong-Wook Kim, Changwon Keum, Steven E Brenner

Hum Genet· March 2025

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Assessing the predicted impact of single amino acid substitutions in MAPK proteins for CAGI6 challenges.
Paola Turina, Maria Petrosino, Carlos A Enriquez Sandoval, Leonore Novak, Alessandra Pasquo, Steven E Brenner

Hum Genet· March 2025

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Disruption of the moonlighting function of CTF18 in a patient with T-lymphopenia.
Robert Sertori, Billy Truong, Manoj K Singh, Susan Shinton, Rachael Price, Steven E Brenner

Front Immunol· March 2025

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Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A.
Shantanu Jain, Marena Trinidad, Thanh Binh Nguyen, Kaiya Jones, Santiago Diaz Neto, Steven E Brenner

Hum Genet· March 2025

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Critical assessment of missense variant effect predictors on disease-relevant variant data.
Ruchir Rastogi, Ryan Chung, Sindy Li, Chang Li, Kyoungyeul Lee, Steven E Brenner

Hum Genet· March 2025

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Session Introduction: Precision Medicine: Multi-modal and multi-scale methods to promote mechanistic understanding of disease.
Hannah Carter, Steven Brenner, Yana Bromberg

Pac Symp Biocomput· December 2024

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Leveraging Foundational Models in Computational Biology: Validation, Understanding, and Innovation.
Brett Beaulieu-Jones, Steven Brenner

Pac Symp Biocomput· December 2024

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Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations.
Sarah L Stenton, Vikas Pejaver, Timothy Bergquist, Leslie G Biesecker, Alicia B Byrne, Steven E Brenner

Genet Med· November 2024

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Reader Response: Fine Particulate Matter and Parkinson Disease Risk Among Medicare Beneficiaries.
Steven R Brenner

Neurology· October 2024

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Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria.
Timothy Bergquist, Sarah L Stenton, Emily A W Nadeau, Alicia B Byrne, Marc S Greenblatt, Steven E Brenner

bioRxiv· September 2024

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Variant Impact Predictor database (VIPdb), version 2: trends from three decades of genetic variant impact predictors.
Yu-Jen Lin, Arul S Menon, Zhiqiang Hu, Steven E Brenner

Hum Genomics· August 2024

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Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancers.
Yile Chen, Kyoungyeul Lee, Junwoo Woo, Dong-Wook Kim, Changwon Keum, Steven E Brenner

Res Sq· July 2024

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Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A.
Shantanu Jain, Marena Trinidad, Thanh Binh Nguyen, Kaiya Jones, Santiago Diaz Neto, Steven E Brenner

bioRxiv· June 2024

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Critical assessment of missense variant effect predictors on disease-relevant variant data.
Ruchir Rastogi, Ryan Chung, Sindy Li, Chang Li, Kyoungyeul Lee, Steven E Brenner

bioRxiv· June 2024

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Variant Impact Predictor database (VIPdb), version 2: Trends from 25 years of genetic variant impact predictors.
Yu-Jen Lin, Arul S Menon, Zhiqiang Hu, Steven E Brenner

bioRxiv· June 2024

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Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Sarah L Stenton, Melanie C O'Leary, Gabrielle Lemire, Grace E VanNoy, Stephanie DiTroia, Steven E Brenner

Hum Genomics· April 2024

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Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations.
Sarah L Stenton, Vikas Pejaver, Timothy Bergquist, Leslie G Biesecker, Alicia B Byrne, Steven E Brenner

medRxiv· March 2024

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Session Introduction: Precision Medicine: Innovative methods for advanced understanding of molecular underpinnings of disease.
Yana Bromberg, Hannah Carter, Steven E Brenner

Pac Symp Biocomput· January 2024

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LARGE LANGUAGE MODELS (LLMS) AND CHATGPT FOR BIOMEDICINE.
Cecilia Arighi, Steven Brenner, Zhiyong Lu

Pac Symp Biocomput· January 2024

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Reader Response: Estrogen Receptor Genes, Cognitive Decline, and Alzheimer Disease.
Steven Brenner

Neurology· October 2023

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Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.
Sarah L Stenton, Melanie O'Leary, Gabrielle Lemire, Grace E VanNoy, Stephanie DiTroia, Steven E Brenner

medRxiv· August 2023

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