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Functional Genomics of ABCA3 Variants.
Wambach JA, Yang P, Wegner DJ, Heins HB, Luke C, Li F, White FV, Cole FS. Wambach JA, et al. Among authors: yang p. Am J Respir Cell Mol Biol. 2020 Oct;63(4):436-443. doi: 10.1165/rcmb.2020-0034MA. Am J Respir Cell Mol Biol. 2020. PMID: 32692933 Free PMC article.
Recombination as a mechanism for sporadic mutation in the surfactant protein-C gene.
McBee AD, Wegner DJ, Carlson CS, Wambach JA, Yang P, Heins HB, Saugstad OD, Trusgnich MA, Watkins-Torry J, Nogee LM, Henderson H, Cole FS, Hamvas A. McBee AD, et al. Among authors: yang p. Pediatr Pulmonol. 2008 May;43(5):443-50. doi: 10.1002/ppul.20782. Pediatr Pulmonol. 2008. PMID: 18383112 Free PMC article.
Developmental and genetic regulation of human surfactant protein B in vivo.
Hamvas A, Heins HB, Guttentag SH, Wegner DJ, Trusgnich MA, Bennet KW, Yang P, Carlson CS, An P, Cole FS. Hamvas A, et al. Among authors: yang p. Neonatology. 2009;95(2):117-24. doi: 10.1159/000153095. Epub 2008 Sep 6. Neonatology. 2009. PMID: 18776725 Free PMC article.
Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures.
Wambach JA, Wegner DJ, Yang P, Shinawi M, Baldridge D, Betleja E, Shimony JS, Spencer D, Hackett BP, Andrews MV, Ferkol T, Dutcher SK, Mahjoub MR, Cole FS. Wambach JA, et al. Among authors: yang p. Pediatr Res. 2018 Sep;84(3):435-441. doi: 10.1038/s41390-018-0083-z. Epub 2018 Jun 4. Pediatr Res. 2018. PMID: 29967526 Free PMC article.
Whole exome sequencing and functional characterization increase diagnostic yield in siblings with a 46, XY difference of sexual development (DSD).
Luna SE, Wegner DJ, Gale S, Yang P, Hollander A, St Dennis-Feezle L, Nabhan ZM, Ory DS, Cole FS, Wambach JA. Luna SE, et al. Among authors: yang p. J Steroid Biochem Mol Biol. 2021 Sep;212:105908. doi: 10.1016/j.jsbmb.2021.105908. Epub 2021 May 10. J Steroid Biochem Mol Biol. 2021. PMID: 33984517 Free PMC article.
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