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American Journal of Human Genetics|December 6, 2024
Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselectionStephen F Kingsmore, Meredith Wright, Laurie D Smith, et al.Brain Communications|November 6, 2024
Autosomal recessive <i>VWA1</i>-related disorder: comprehensive analysis of phenotypic variability and genetic mutationsSara Nagy, Alistair T Pagnamenta, Elisa Cali, et al.American Journal of Human Genetics|August 25, 2022
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseasesStephen F Kingsmore, Laurie D Smith, Chris M Kunard, et al.Medrxiv : the Preprint Server for Health Sciences|June 29, 2026
The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial diseaseJohan L K Van Hove, Marisa W Friederich, Roxanne A Van Hove, et al.Science Translational Medicine|April 26, 2019
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretationMichelle M Clark, Amber Hildreth, Sergey Batalov, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 10, 2020
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathyChiara Klöckner, Heinrich Sticht, Pia Zacher, et al.Nature Communications|July 26, 2022
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseasesMallory J Owen, Sebastien Lefebvre, Christian Hansen, et al.Cell|December 5, 2025
A fin-loop-like structure in GPX4 underlies neuroprotection from ferroptosisSvenja M Lorenz, Adam Wahida, Mark J Bostock, et al.Pageof 4