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Page 1
Mutation of POC1B in a severe syndromic retinal ciliopathy.
Beck BB, Phillips JB, Bartram MP, Wegner J, Thoenes M, Pannes A, Sampson J, Heller R, Göbel H, Koerber F, Neugebauer A, Hedergott A, Nürnberg G, Nürnberg P, Thiele H, Altmüller J, Toliat MR, Staubach S, Boycott KM, Valente EM, Janecke AR, Eisenberger T, Bergmann C, Tebbe L, Wang Y, Wu Y, Fry AM, Westerfield M, Wolfrum U, Bolz HJ. Beck BB, et al. Among authors: bartram mp. Hum Mutat. 2014 Oct;35(10):1153-62. doi: 10.1002/humu.22618. Epub 2014 Aug 11. Hum Mutat. 2014. PMID: 25044745 Free PMC article.
Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression.
Frank V, Habbig S, Bartram MP, Eisenberger T, Veenstra-Knol HE, Decker C, Boorsma RA, Göbel H, Nürnberg G, Griessmann A, Franke M, Borgal L, Kohli P, Völker LA, Dötsch J, Nürnberg P, Benzing T, Bolz HJ, Johnson C, Gerkes EH, Schermer B, Bergmann C. Frank V, et al. Among authors: bartram mp. Hum Mol Genet. 2013 Jun 1;22(11):2177-85. doi: 10.1093/hmg/ddt070. Epub 2013 Feb 14. Hum Mol Genet. 2013. PMID: 23418306
Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations.
Laghmani K, Beck BB, Yang SS, Seaayfan E, Wenzel A, Reusch B, Vitzthum H, Priem D, Demaretz S, Bergmann K, Duin LK, Göbel H, Mache C, Thiele H, Bartram MP, Dombret C, Altmüller J, Nürnberg P, Benzing T, Levtchenko E, Seyberth HW, Klaus G, Yigit G, Lin SH, Timmer A, de Koning TJ, Scherjon SA, Schlingmann KP, Bertrand MJ, Rinschen MM, de Backer O, Konrad M, Kömhoff M. Laghmani K, et al. Among authors: bartram mp. N Engl J Med. 2016 May 12;374(19):1853-63. doi: 10.1056/NEJMoa1507629. Epub 2016 Apr 27. N Engl J Med. 2016. PMID: 27120771 Free article.
cfNOMe - A single assay for comprehensive epigenetic analyses of cell-free DNA.
Erger F, Nörling D, Borchert D, Leenen E, Habbig S, Wiesener MS, Bartram MP, Wenzel A, Becker C, Toliat MR, Nürnberg P, Beck BB, Altmüller J. Erger F, et al. Among authors: bartram mp. Genome Med. 2020 Jun 24;12(1):54. doi: 10.1186/s13073-020-00750-5. Genome Med. 2020. PMID: 32580754 Free PMC article.
41 results