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Pediatric Pulmonology|July 4, 2023
The US national registry for childhood interstitial and diffuse lung disease: Report of study design and initial enrollment cohortRebekah J Nevel, Gail H Deutsch, Daniel Craven, et al.American Journal of Respiratory and Critical Care Medicine|July 24, 2026
An Update to the Classification, Evaluation, and Management of Childhood Interstitial Lung Disease in Infancy: An Official American Thoracic Society Clinical Practice GuidelineMatthew D McGraw, Emily DeBoer, Jason P Weinman, et al.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.Human Mutation|March 19, 2013
Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domainPartha Sen, Yaping Yang, Colby Navarro, 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 7