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Against all odds: blended phenotypes of three single-gene defects.
Li Y, Salfelder A, Schwab KO, Grünert SC, Velten T, Lütjohann D, Villavicencio-Lorini P, Matysiak-Scholze U, Zabel B, Köttgen A, Lausch E. Li Y, et al. Among authors: lausch e. Eur J Hum Genet. 2016 Aug;24(9):1274-9. doi: 10.1038/ejhg.2015.285. Epub 2016 Jan 27. Eur J Hum Genet. 2016. PMID: 26813946 Free PMC article.
Loss of Functional Osteoprotegerin: More Than a Skeletal Problem.
Grasemann C, Unger N, Hövel M, Arweiler-Harbeck D, Herrmann R, Schündeln MM, Müller O, Schweiger B, Lausch E, Meissner T, Kiewert C, Hauffa BP, Shaw NJ. Grasemann C, et al. Among authors: lausch e. J Clin Endocrinol Metab. 2017 Jan 1;102(1):210-219. doi: 10.1210/jc.2016-2905. J Clin Endocrinol Metab. 2017. PMID: 27809640
Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype.
Grosch M, Grüner B, Spranger S, Stütz AM, Rausch T, Korbel JO, Seelow D, Nürnberg P, Sticht H, Lausch E, Zabel B, Winterpacht A, Tagariello A. Grosch M, et al. Among authors: lausch e. Matrix Biol. 2013 Oct-Nov;32(7-8):387-92. doi: 10.1016/j.matbio.2013.05.001. Epub 2013 May 9. Matrix Biol. 2013. PMID: 23665482
A common pathomechanism in GMAP-210- and LBR-related diseases.
Wehrle A, Witkos TM, Schneider JC, Hoppmann A, Behringer S, Köttgen A, Elting M, Spranger J, Lowe M, Lausch E. Wehrle A, et al. Among authors: lausch e. JCI Insight. 2018 Dec 6;3(23):e121150. doi: 10.1172/jci.insight.121150. JCI Insight. 2018. PMID: 30518689 Free PMC article.
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.
Shaheen R, Schmidts M, Faqeih E, Hashem A, Lausch E, Holder I, Superti-Furga A; UK10K Consortium; Mitchison HM, Almoisheer A, Alamro R, Alshiddi T, Alzahrani F, Beales PL, Alkuraya FS. Shaheen R, et al. Among authors: lausch e. Hum Mol Genet. 2015 Mar 1;24(5):1410-9. doi: 10.1093/hmg/ddu555. Epub 2014 Oct 30. Hum Mol Genet. 2015. PMID: 25361962 Free PMC article.
Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model.
Pfirrmann T, Emmerich D, Ruokonen P, Quandt D, Buchen R, Fischer-Zirnsak B, Hecht J, Krawitz P, Meyer P, Klopocki E, Stricker S, Lausch E, Seliger B, Hollemann T, Reinhard T, Auw-Haedrich C, Zabel B, Hoffmann K, Villavicencio-Lorini P. Pfirrmann T, et al. Among authors: lausch e. Hum Mol Genet. 2015 Jun 1;24(11):3119-32. doi: 10.1093/hmg/ddv063. Epub 2015 Feb 23. Hum Mol Genet. 2015. PMID: 25712132
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