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Author

Thomas Defay

Observed name: Thomas Defay.
ORCID: 0000-0002-5801-9017
Observed ORCID: 0000-0002-5801-9017
OpenAlex ID: A5060429577
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation
2019 · Michelle M. Clark, Amber Hildreth, et al. · Science Translational Medicine · 297
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases
2022 · Stephen F. Kingsmore, Laurie D. Smith, et al. · The American Journal of Human Genetics · 177
Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome
2021 · Mallory J. Owen, Anna-Kaisa Niemi, et al. · New England Journal of Medicine · 73
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An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases
2022 · Mallory J. Owen, Sebastien Lefebvre, et al. · Nature Communications · 71
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Data sharing to advance gene‐targeted therapies in rare diseases
2023 · Julie Lekstrom‐Himes, Erika F. Augustine, et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 15
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Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial
2024 · Stephen F. Kingsmore, Meredith Wright, et al. · The American Journal of Human Genetics · 14
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Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection
2024 · Stephen F. Kingsmore, Meredith Wright, et al. · The American Journal of Human Genetics · 14
Whole‐genome sequencing holds the key to the success of gene‐targeted therapies
2022 · Jerry Vockley, Annemieke Aartsma‐Rus, et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 14
Scaling genetic resources: New paradigms for diagnosis and treatment of rare genetic disease
2022 · Jerry Vockley, Thomas Defay, et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 11
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders
2021 · Jignesh R. Parikh, Casie A. Genetti, et al. · Human Genetics and Genomics Advances · 10
P146: BeginNGS, an artificial intelligence-enabled genome sequencing system for newborn screening of 409 childhood genetic disorders*
2024 · Jennifer Schleit, Meredith Wright, et al. · Genetics in Medicine Open · 3
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Evaluation of the Path to Diagnosis and Time to Treatment in Patients with Light-Chain Amyloidosis Using the Komodo Claims Database
2022 · Julia Catini, Quan Doan, et al. · Blood · 3
Response to Grosse et al.
2023 · Stephen F. Kingsmore, Laurie D. Smith, et al. · The American Journal of Human Genetics · 1
O32: BeginNGS: Updates on advancing newborn screening by genome sequencing trial with federated learning models
2026 · Rebecca Reimers, Meredith Wright, et al. · Genetics in Medicine Open
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P623: BeginNGS: Nest digital genetics navigator facilitates scale while preserving participant experience and education
2025 · Brandan Schultz, Rebecca Reimers, et al. · Genetics in Medicine Open
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Evaluation of the Patterns Leading to Diagnosis in Patients With Amyloid Light-chain Amyloidosis Using the Komodo Database
2022 · Julia N. Catini, Quan Doan, et al. · Journal of the American College of Cardiology
Works count: 16
Citation count: 703
H-index: 10
I10-index: 10
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