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Journal of Medical Genetics|May 15, 2023
<i>ARF1</i>-related disorder: phenotypic and molecular spectrumJean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, et al.Journal of Medical Genetics|March 2, 2022
Consolidation of the clinical and genetic definition of a <i>SOX4-</i>related neurodevelopmental syndromeMarco Angelozzi, Anirudha Karvande, Arnaud N Molin, 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 3