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Page 1
DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling.
Schueler M, Braun DA, Chandrasekar G, Gee HY, Klasson TD, Halbritter J, Bieder A, Porath JD, Airik R, Zhou W, LoTurco JJ, Che A, Otto EA, Böckenhauer D, Sebire NJ, Honzik T, Harris PC, Koon SJ, Gunay-Aygun M, Saunier S, Zerres K, Bruechle NO, Drenth JP, Pelletier L, Tapia-Páez I, Lifton RP, Giles RH, Kere J, Hildebrandt F. Schueler M, et al. Among authors: bruechle no. Am J Hum Genet. 2015 Jan 8;96(1):81-92. doi: 10.1016/j.ajhg.2014.12.002. Epub 2014 Dec 31. Am J Hum Genet. 2015. PMID: 25557784 Free PMC article.
Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.
Morin G, Bruechle NO, Singh AR, Knopp C, Jedraszak G, Elbracht M, Brémond-Gignac D, Hartmann K, Sevestre H, Deutz P, Hérent D, Nürnberg P, Roméo B, Konrad K, Mathieu-Dramard M, Oldenburg J, Bourges-Petit E, Shen Y, Zerres K, Ouadid-Ahidouch H, Rochette J. Morin G, et al. Among authors: bruechle no. Hum Mutat. 2014 Oct;35(10):1221-32. doi: 10.1002/humu.22621. Hum Mutat. 2014. PMID: 25044882
Direct prediction of Homologous Recombination Deficiency from routine histology in ten different tumor types with attention-based Multiple Instance Learning: a development and validation study.
Loeffler CML, El Nahhas OSM, Muti HS, Seibel T, Cifci D, van Treeck M, Gustav M, Carrero ZI, Gaisa NT, Lehmann KV, Leary A, Selenica P, Reis-Filho JS, Bruechle NO, Kather JN. Loeffler CML, et al. Among authors: bruechle no. medRxiv [Preprint]. 2023 Mar 10:2023.03.08.23286975. doi: 10.1101/2023.03.08.23286975. medRxiv. 2023. Update in: BMC Biol. 2024 Oct 8;22(1):225. doi: 10.1186/s12915-024-02022-9 PMID: 36945540 Free PMC article. Updated. Preprint.
Rationale, design and objectives of ARegPKD, a European ARPKD registry study.
Ebner K, Feldkoetter M, Ariceta G, Bergmann C, Buettner R, Doyon A, Duzova A, Goebel H, Haffner D, Hero B, Hoppe B, Illig T, Jankauskiene A, Klopp N, König J, Litwin M, Mekahli D, Ranchin B, Sander A, Testa S, Weber LT, Wicher D, Yuzbasioglu A, Zerres K, Dötsch J, Schaefer F, Liebau MC; ESCAPE Study Group; GPN Study Group. Ebner K, et al. BMC Nephrol. 2015 Feb 18;16:22. doi: 10.1186/s12882-015-0002-z. BMC Nephrol. 2015. PMID: 25886171 Free PMC article.
Characteristics of intracranial aneurysms in the else kröner-fresenius registry of autosomal dominant polycystic kidney disease.
Neumann HP, Malinoc A, Bacher J, Nabulsi Z, Ivanovas V, Bruechle NO, Mader I, Hoffmann MM, Riegler P, Kraemer-Guth A, Burchardi C, Schaeffner E, Martin RS, Azurmendi PJ, Zerres K, Jilg C, Eng C, Gläsker S. Neumann HP, et al. Among authors: bruechle no. Cerebrovasc Dis Extra. 2012 Jan;2(1):71-9. doi: 10.1159/000342620. Epub 2012 Oct 9. Cerebrovasc Dis Extra. 2012. PMID: 23139683 Free PMC article.