Publications by authors named "Sean D Mooney"

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Automated survey collection with LLM-based conversational agents.
Kurmanbek Kaiyrbekov, Nicholas J Dobbins, Sean D Mooney

JAMIA Open· October 2025

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Transformer patient embedding using electronic health records enables patient stratification and progression analysis.
Su Xian, Monika E Grabowska, Iftikhar J Kullo, Yuan Luo, Jordan W Smoller, Sean D Mooney

NPJ Digit Med· August 2025

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Cerulenin partially corrects the disrupted developmental transcriptomic signature in Huntington's disease striatal medium spiny neurons.
Carlos Galicia Aguirre, Kizito-Tshitoko Tshilenge, Elena Battistoni, Alejandro Lopez-Ramirez, Swati Naphade, Sean D Mooney

Stem Cells· July 2025

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Automated Survey Collection with LLM-based Conversational Agents.
Kurmanbek Kaiyrbekov, Nicholas J Dobbins, Sean D Mooney

ArXiv· April 2025

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CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs).
Maria Cristina Aspromonte, Alessio Del Conte, Shaowen Zhu, Wuwei Tan, Yang Shen, Sean D Mooney

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, Sean D Mooney

Hum Genet· March 2025

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ClinValAI: A framework for developing Cloud-based infrastructures for the External Clinical Validation of AI in Medical Imaging.
Ojas A Ramwala, Kathryn P Lowry, Daniel S Hippe, Matthew P N Unrath, Matthew J Nyflot, Sean D Mooney

Pac Symp Biocomput· December 2024

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Establishing a Validation Infrastructure for Imaging-Based Artificial Intelligence Algorithms Before Clinical Implementation.
Ojas A Ramwala, Kathryn P Lowry, Nathan M Cross, William Hsu, Christopher C Austin, Sean D Mooney

J Am Coll Radiol· October 2024

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The Automatic Context Measurement Tool (ACMT) to Compile Participant-Specific Built and Social Environment Measures for Health Research: Development and Usability Study.
Weipeng Zhou, Amy Youngbloom, Xinyang Ren, Brian E Saelens, Sean D Mooney, Stephen J Mooney

JMIR Form Res· October 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, Sean D Mooney

Res Sq· July 2024

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Evaluation of crowdsourced mortality prediction models as a framework for assessing artificial intelligence in medicine.
Timothy Bergquist, Thomas Schaffter, Yao Yan, Thomas Yu, Justin Prosser, Sean D Mooney

J Am Med Inform Assoc· December 2023

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Evaluating construct validity of computable acute respiratory distress syndrome definitions in adults hospitalized with COVID-19: an electronic health records based approach.
Neha A Sathe, Su Xian, F Linzee Mabrey, David R Crosslin, Sean D Mooney

BMC Pulm Med· August 2023

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CAGI6 ID-Challenge: Assessment of phenotype and variant predictions in 415 children with Neurodevelopmental Disorders (NDDs).
Maria Cristina Aspromonte, Alessio Del Conte, Shaowen Zhu, Wuwei Tan, Yang Shen, Sean D Mooney

Res Sq· August 2023

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Proteomic Analysis of Huntington's Disease Medium Spiny Neurons Identifies Alterations in Lipid Droplets.
Kizito-Tshitoko Tshilenge, Carlos Galicia Aguirre, Joanna Bons, Akos A Gerencser, Nathan Basisty, Sean D Mooney

Mol Cell Proteomics· May 2023

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Returning integrated genomic risk and clinical recommendations: The eMERGE study.
Jodell E Linder, Aimee Allworth, Harris T Bland, Pedro J Caraballo, Rex L Chisholm, Sean D Mooney

Genet Med· April 2023

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Predicting decompression surgery by applying multimodal deep learning to patients' structured and unstructured health data.
Chethan Jujjavarapu, Pradeep Suri, Vikas Pejaver, Janna Friedly, Laura S Gold, Sean D Mooney

BMC Med Inform Decis Mak· January 2023

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Technology Platforms and Approaches for Building and Evaluating Machine Learning Methods in Healthcare.
Sean D Mooney

J Appl Lab Med· January 2023

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Vikas Pejaver, Alicia B Byrne, Bing-Jian Feng, Kymberleigh A Pagel, Sean D Mooney

Am J Hum Genet· December 2022

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A Multifaceted benchmarking of synthetic electronic health record generation models.
Chao Yan, Yao Yan, Zhiyu Wan, Ziqi Zhang, Larsson Omberg, Sean D Mooney

Nat Commun· December 2022

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Multi-objective prioritization of genes for high-throughput functional assays towards improved clinical variant classification.
Yile Chen, Shantanu Jain, Daniel Zeiberg, Lilia M Iakoucheva, Sean D Mooney

Pac Symp Biocomput· December 2022

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Postnatal Conditional Deletion of in Striatal Projection Neurons Mimics the Transcriptional Signature of Huntington's Disease.
Sicheng Song, Jordi Creus Muncunill, Carlos Galicia Aguirre, Kizito-Tshitoko Tshilenge, B Wade Hamilton, Sean D Mooney

Biomedicines· September 2022

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A Comparison of Natural Language Processing Methods for the Classification of Lumbar Spine Imaging Findings Related to Lower Back Pain.
Chethan Jujjavarapu, Vikas Pejaver, Trevor A Cohen, Sean D Mooney, Patrick J Heagerty

Acad Radiol· March 2022

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From the clinic to the community: Can health system data accurately estimate population obesity prevalence?
Stephen J Mooney, Lin Song, Adam Drewnowski, James Buskiewicz, Sean D Mooney

Obesity (Silver Spring)· November 2021

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Unbiased identification of novel transcription factors in striatal compartmentation and striosome maturation.
Maria-Daniela Cirnaru, Sicheng Song, Kizito-Tshitoko Tshilenge, Chuhyon Corwin, Justyna Mleczko, Sean D Mooney

Elife· October 2021

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