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Pediatrics|November 21, 2012
Single ABCA3 mutations increase risk for neonatal respiratory distress syndromeJennifer A Wambach, Daniel J Wegner, Kelcey Depass, et al.
American Journal of Medical Genetics. Part A|May 21, 2014
Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veinsPrzemyslaw Szafranski, Avinash V Dharmadhikari, Jennifer A Wambach, 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.
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 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.
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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 9, 2023
Provision and availability of genomic medicine services in Level IV neonatal intensive care unitsMonica H Wojcik, Katharine P Callahan, Austin Antoniou, et al.
American Journal of Respiratory Cell and Molecular Biology|May 6, 2026
Lentiviral-mediated gene complementation to rescue pathogenic ABCA3 variantsAshley L Cooney, Shakayla Lamer, Ping Yang, et al.
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