Selection of informative patient pairs
Candidate gene analysis
Mapping causative variants
More mapping methods
Paternal and maternal chromosomes of these selected subsamples of affected patient pairs can be followed up on a dense marker map as accomplished in this study for the paternally imprinted element on 7q34 to delineate novel imprinted genes in the human genome.
Kolbe EW, Tamm S, Hedtfeld S, Becker T, Tümmler B, Stanke F.
CLCA4 variants determine the manifestation of the cystic fibrosis basic defect in the intestine.
Eur J Hum Genet. 2012 Oct 17. doi: 10.1038/ejhg.2012.234. PMID: 23073314
Labenski H, Hedtfeld S, Becker T, Tümmler B, Stanke F.
Initial interrogation, confirmation and fine mapping of modifying genes: STAT3, IL1B and IFNGR1 determine cystic fibrosis disease manifestation.
Eur J Hum Genet. 2011 Jul 6. PMID: 21731057
Stanke F, Hedtfeld S, Becker T, Tümmler B.
An association study on contrasting cystic fibrosis endophenotypes recognizes KRT8 but not KRT18 as a modifier of cystic fibrosis disease severity and CFTR mediated residual chloride secretion.
BMC Med Genet. 2011 May 6;12(1):62. PMID: 21548936
Stanke F, Davenport C, Hedtfeld S, Tümmler B.
Differential decay of parent-of-origin specific genomic sharing in cystic fibrosis affected sibpairs maps a paternally imprinted locus to 7q34.
European Journal of Human Genetics. 2010 Jan 6 (Epub). PMID: 20051989
Kumar V, Becker T, Jansen S, van Barneveld A, Boztug K, Wölfl S, Tümmler B, Stanke F.
Expression levels of FAS are regulated through an evolutionary conserved element in intron 2 which modulates cystic fibrosis disease severity.
Genes Immun. 2008. 9:689-96. PMID: 18685642
Becker T, Jansen S, Tamm S, Wienker T. F, Tümmler B, Stanke F.
Transmission ratio distortion and maternal effects confound the analysis of modulators of cystic fibrosis disease severity on 19q13.
Eur J Hum Genet. 2007. 15:774-778. PMID: 17406643