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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.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.Biorxiv : the Preprint Server for Biology|September 5, 2025
Lentiviral-mediated gene complementation rescues pathogenic <i>ABCA3</i> 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.Nature Methods|March 3, 2009
Quantification of rare allelic variants from pooled genomic DNATodd E Druley, Francesco L M Vallania, Daniel J Wegner, et al.The Journal of Pediatrics|August 4, 2009
Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genesAaron Hamvas, Lawrence M Nogee, Daniel J Wegner, 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.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.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.Molecular Genetics and Metabolism|January 1, 2025
Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5Marwan Shinawi, Daniel J Wegner, Alexander J Paul, et al.Pageof 6