Wambach JA - Search Results

1

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. 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.

2

Population and disease-based prevalence of the common mutations associated with surfactant deficiency.

Garmany TH, Wambach JA, Heins HB, Watkins-Torry JM, Wegner DJ, Bennet K, An P, Land G, Saugstad OD, Henderson H, Nogee LM, Cole FS, Hamvas A. Garmany TH, et al. Among authors: wambach ja. Pediatr Res. 2008 Jun;63(6):645-9. doi: 10.1203/PDR.0b013e31816fdbeb. Pediatr Res. 2008. PMID: 18317237 Free PMC article.

3

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: wambach ja. Pediatr Pulmonol. 2008 May;43(5):443-50. doi: 10.1002/ppul.20782. Pediatr Pulmonol. 2008. PMID: 18383112 Free PMC article.

4

Surfactant protein-C promoter variants associated with neonatal respiratory distress syndrome reduce transcription.

Wambach JA, Yang P, Wegner DJ, An P, Hackett BP, Cole FS, Hamvas A. Wambach JA, et al. Pediatr Res. 2010 Sep;68(3):216-20. doi: 10.1203/PDR.0b013e3181eb5d68. Pediatr Res. 2010. PMID: 20539253 Free PMC article.

5

An intronic ABCA3 mutation that is responsible for respiratory disease.

Agrawal A, Hamvas A, Cole FS, Wambach JA, Wegner D, Coghill C, Harrison K, Nogee LM. Agrawal A, et al. Among authors: wambach ja. Pediatr Res. 2012 Jun;71(6):633-7. doi: 10.1038/pr.2012.21. Epub 2012 Feb 15. Pediatr Res. 2012. PMID: 22337229 Free PMC article.

6

Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome.

Wambach JA, Wegner DJ, Depass K, Heins H, Druley TE, Mitra RD, An P, Zhang Q, Nogee LM, Cole FS, Hamvas A. Wambach JA, et al. Pediatrics. 2012 Dec;130(6):e1575-82. doi: 10.1542/peds.2012-0918. Epub 2012 Nov 19. Pediatrics. 2012. PMID: 23166334 Free PMC article.

7

Synonymous ABCA3 variants do not increase risk for neonatal respiratory distress syndrome.

Wambach JA, Wegner DJ, Heins HB, Druley TE, Mitra RD, Hamvas A, Cole FS. Wambach JA, et al. J Pediatr. 2014 Jun;164(6):1316-21.e3. doi: 10.1016/j.jpeds.2014.02.021. Epub 2014 Mar 20. J Pediatr. 2014. PMID: 24657120 Free PMC article.

8

Genotype-phenotype correlations for infants and children with ABCA3 deficiency.

Wambach JA, Casey AM, Fishman MP, Wegner DJ, Wert SE, Cole FS, Hamvas A, Nogee LM. Wambach JA, et al. Am J Respir Crit Care Med. 2014 Jun 15;189(12):1538-43. doi: 10.1164/rccm.201402-0342OC. Am J Respir Crit Care Med. 2014. PMID: 24871971 Free PMC article.

9

Respiratory failure in a term infant with cis and trans mutations in ABCA3.

Jackson T, Wegner DJ, White FV, Hamvas A, Cole FS, Wambach JA. Jackson T, et al. Among authors: wambach ja. J Perinatol. 2015 Mar;35(3):231-2. doi: 10.1038/jp.2014.236. J Perinatol. 2015. PMID: 25712598 Free PMC article.

10

Population-based frequency of surfactant dysfunction mutations in a native Chinese cohort.

Chen YJ, Wambach JA, DePass K, Wegner DJ, Chen SK, Zhang QY, Heins H, Cole FS, Hamvas A. Chen YJ, et al. Among authors: wambach ja. World J Pediatr. 2016 May;12(2):190-5. doi: 10.1007/s12519-015-0047-x. Epub 2015 Nov 7. World J Pediatr. 2016. PMID: 26547207

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