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American Journal of Medical Genetics. Part A|August 21, 2024
Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1 -related RASopathyDorothy K Grange, Daniel J Wegner, Jennifer A Wambach, et al.The Journal of Pediatrics|November 11, 2006
Surfactant phosphatidylcholine metabolism in neonates with meconium aspiration syndromeDaphne J Janssen, Virgilio P Carnielli, Paola Cogo, et al.Plos One|September 29, 2025
The Founders' 400 and Chicago Perinatal Origins of Disease study protocol: Following a prospective, longitudinal cohort from early pregnancy through two years of postnatal lifeStephanie A Fisher, Tonia N Branche, Mary J Akel, et al.Annals of the American Thoracic Society|September 24, 2015
Comparisons and Limitations of Current Definitions of Bronchopulmonary Dysplasia for the Prematurity and Respiratory Outcomes ProgramBrenda B Poindexter, Rui Feng, Barbara Schmidt, et al.World Journal of Pediatrics : WJP|November 9, 2015
Population-based frequency of surfactant dysfunction mutations in a native Chinese cohortYu-Jun Chen, Jennifer Anne Wambach, Kelcey DePass, et al.Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics|January 11, 2013
[Pulmonary surfactant associated gene variants in mixed ethnic population of Han and Zhuang]Yu-jun Chen, Shao-ke Chen, Kelcey DePass, et al.The Journal of Clinical Investigation|January 16, 2024
Human pluripotent stem cell modeling of alveolar type 2 cell dysfunction caused by ABCA3 mutationsYuliang L Sun, Erin E Hennessey, Hillary Heins, et al.Cell Reports|September 1, 2021
Patient-specific iPSCs carrying an SFTPC mutation reveal the intrinsic alveolar epithelial dysfunction at the inception of interstitial lung diseaseKonstantinos-Dionysios Alysandratos, Scott J Russo, Anton Petcherski, et al.American Journal of Medical Genetics. Part A|February 22, 2020
Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndromeDustin Baldridge, Rebecca C Spillmann, Daniel J Wegner, et al.Journal of Pediatric Surgery|June 21, 2011
Bacterial DNA content in the intestinal wall from infants with necrotizing enterocolitisBrian T Bucher, Lucas A McDuffie, Nurmohammad Shaikh, et al.Pageof 22