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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: cole fs. 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.
Informed consent for genetic research.
Hamvas A, Madden KK, Nogee LM, Trusgnich MA, Wegner DJ, Heins HB, Cole FS. Hamvas A, et al. Among authors: cole fs. Arch Pediatr Adolesc Med. 2004 Jun;158(6):551-5. doi: 10.1001/archpedi.158.6.551. Arch Pediatr Adolesc Med. 2004. PMID: 15184218
Comprehensive genetic variant discovery in the surfactant protein B gene.
Hamvas A, Wegner DJ, Carlson CS, Bergmann KR, Trusgnich MA, Fulton L, Kasai Y, An P, Mardis ER, Wilson RK, Cole FS. Hamvas A, et al. Among authors: cole fs. Pediatr Res. 2007 Aug;62(2):170-5. doi: 10.1203/PDR.0b013e3180a03232. Pediatr Res. 2007. PMID: 17597650 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: cole fs. 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: cole fs. Neonatology. 2009;95(2):117-24. doi: 10.1159/000153095. Epub 2008 Sep 6. Neonatology. 2009. PMID: 18776725 Free PMC article.
Quantification of rare allelic variants from pooled genomic DNA.
Druley TE, Vallania FL, Wegner DJ, Varley KE, Knowles OL, Bonds JA, Robison SW, Doniger SW, Hamvas A, Cole FS, Fay JC, Mitra RD. Druley TE, et al. Among authors: cole fs. Nat Methods. 2009 Apr;6(4):263-5. doi: 10.1038/nmeth.1307. Epub 2009 Mar 1. Nat Methods. 2009. PMID: 19252504 Free PMC article.
236 results