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JAMA Pediatrics|September 27, 2021
Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial, Ian D Krantz, Livija Medne, et al.Science Translational Medicine|May 31, 2023
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon productionFrédéric Ebstein, Sébastien Küry, Victoria Most, et al.Science (New York, N.Y.)|April 25, 2024
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubulesDaniel O Dodd, Sabrina Mechaussier, Patricia L Yeyati, et al.Pageof 6