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Neonatology|September 9, 2008
Developmental and genetic regulation of human surfactant protein B in vivoAaron Hamvas, Hillary B Heins, Susan H Guttentag, et al.
Pediatric Pulmonology|February 16, 2022
Biologic characterization of ABCA3 variants in lung tissue from infants and children with ABCA3 deficiencyKathryn K Xu, Daniel J Wegner, Lucille C Geurts, et al.
Pediatrics|November 21, 2012
Single ABCA3 mutations increase risk for neonatal respiratory distress syndromeJennifer A Wambach, Daniel J Wegner, Kelcey Depass, et al.
Human Mutation|March 21, 2020
Functional characterization of four ATP-binding cassette transporter A3 gene (ABCA3) variantsJune Y Hu, Ping Yang, Daniel J Wegner, et al.
The Journal of Steroid Biochemistry and Molecular Biology|May 13, 2021
Whole exome sequencing and functional characterization increase diagnostic yield in siblings with a 46, XY difference of sexual development (DSD)Sofia E Luna, Daniel J Wegner, Sarah Gale, et al.
Pediatric Research|June 29, 2007
Comprehensive genetic variant discovery in the surfactant protein B geneAaron Hamvas, Daniel J Wegner, Christopher S Carlson, et al.
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.
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.
American Journal of Respiratory Cell and Molecular Biology|July 5, 2016
Functional Characterization of ATP-Binding Cassette Transporter A3 Mutations from Infants with Respiratory Distress SyndromeJennifer A Wambach, Ping Yang, Daniel J Wegner, et al.
The Journal of Pediatrics|December 5, 2017
Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung TransplantationChristopher T Towe, Frances V White, R Mark Grady, et al.
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