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Pediatric Research|March 5, 2008
Population and disease-based prevalence of the common mutations associated with surfactant deficiencyTami H Garmany, Jennifer A Wambach, Hillary B Heins, et al.
Biorxiv : the Preprint Server for Biology|September 5, 2025
Lentiviral-mediated gene complementation rescues pathogenic ABCA3 variantsAshley L Cooney, Shakayla Lamer, Ping Yang, et al.
American Journal of Medical Genetics. Part A|May 1, 2021
Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2)Kristen K Rosano, Daniel J Wegner, Marwan Shinawi, et al.
Clinical Epigenetics|April 10, 2019
Novel parent-of-origin-specific differentially methylated loci on chromosome 16Katharina V Schulze, Przemyslaw Szafranski, Harry Lesmana, et al.
Pediatric Research|July 4, 2018
Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizuresJennifer A Wambach, Daniel J Wegner, Ping Yang, et al.
Pediatric Pulmonology|April 3, 2008
Recombination as a mechanism for sporadic mutation in the surfactant protein-C geneAmy D McBee, Daniel J Wegner, Christopher S Carlson, et al.
American Journal of Respiratory and Critical Care Medicine|December 8, 2022
Novel FOXF1-Stabilizing Compound TanFe Stimulates Lung Angiogenesis in Alveolar Capillary DysplasiaArun Pradhan, Lixiao Che, Vladimir Ustiyan, et al.
Plos One|March 27, 2019
CemOrange2 fusions facilitate multifluorophore subcellular imaging in C. elegansBrian J Thomas, Ira E Wight, Wendy Y Y Chou, et al.
Pediatric Pulmonology|June 15, 2026
Respiratory Outcomes in Children With Neonatal Respiratory Distress Syndrome and Monoallelic ABCA3 VariantsVelda Ocasio Ramírez, Jennifer A Wambach, Rebekah J Nevel, et al.
American Journal of Human Genetics|November 12, 2018
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch SyndromeJennifer A Wambach, Daniel J Wegner, Nivedita Patni, et al.
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