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Neubauer, Jaqueline; Lecca, MR; Russo, G; Bartsch, C; Medeiros Domingo, Argelia; Berger, Wolfgang; Haas, Cordula (2017). Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases. European journal of human genetics, 25(4), pp. 404-409. Nature Publishing Group 10.1038/ejhg.2016.199
Neubauer, Jaqueline; Haas, Cordula; Bartsch, Christine; Medeiros Domingo, Argelia; Berger, Wolfgang (2016). Post-mortem whole-exome sequencing (WES) with a focus on cardiac disease-associated genes in five young sudden unexplained death (SUD) cases. International journal of legal medicine, 130(4), pp. 1011-1021. Springer 10.1007/s00414-016-1317-4
Tiwari, Amit; Bahr, Angela; Bähr, Luzy; Fleischhauer, Johannes; Zinkernagel, Martin; Winkler, Niklas; Barthelmes, Daniel; Berger, Lieselotte Erika; Gerth-Kahlert, Christina; Neidhardt, John; Berger, Wolfgang (2016). Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. Scientific Reports, 6(28755), p. 28755. Nature Publishing Group 10.1038/srep28755
Medeiros Domingo, Argelia; Saguner, Ardan; Magyar, Istvan; Bahr, Angela; Akdis, Deniz; Brunckhorst, Corinna; Firat, Duru; Berger, Wolfgang (2016). Arrhythmogenic right ventricular cardiomyopathy: implications of next-generation sequencing in appropriate diagnosis. Europace, 19(6), pp. 1063-1069. Oxford University Press 10.1093/europace/euw098
Poloschek, Charlotte M; Bach, Michael; Lagreze, W A; Glaus, Esther; Lemke, Johannes; Berger, Wolfgang; Neidhardt, John (2010). ABCA4 and ROM1: Implications for modification of the PRPH2-associated macular dystrophy phenotype. Investigative ophthalmology & visual science, 51(8), pp. 4253-65. Hagerstown, Md.: Association for Research in Vision and Ophthalmology 10.1167/iovs.09-4655
Magyar, István; Colman, Dvora; Arnold, Eliane; Baumgartner, Daniela; Bottani, Armand; Fokstuen, Siv; Addor, Marie-Claude; Berger, Wolfgang; Carrel, Thierry; Steinmann, Beat; Mátyás, Gábor (2009). Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes. Human mutation, 30(9), pp. 1355-64. Hoboken, N.J.: Wiley-Blackwell 10.1002/humu.21058
Neidhardt, John; Glaus, Esther; Lorenz, Birgit; Netzer, Christian; Li, Yün; Schambeck, Maria; Wittmer, Mariana; Feil, Silke; Kirschner-Schwabe, Renate; Rosenberg, Thomas; Cremers, Frans P M; Bergen, Arthur A B; Barthelmes, Daniel; Baraki, Husnia; Schmid, Fabian; Tanner, Gaby; Fleischhauer, Johannes; Orth, Ulrike; Becker, Christian; Wegscheider, Erika; ... (2008). Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing. Molecular vision, 14, pp. 1081-1093. Atlanta, Ga.: Emory University
Cremers, Frans P M; Kimberling, William J; Külm, Maigi; de Brouwer, Arjan P; van Wijk, Erwin; te Brinke, Heleen; Cremers, Cor W R J; Hoefsloot, Lies H; Banfi, Sandro; Simonelli, Francesca; Fleischhauer, Johannes C; Berger, Wolfgang; Kelley, Phil M; Haralambous, Elene; Bitner-Glindzicz, Maria; Webster, Andrew R; Saihan, Zubin; De Baere, Elfride; Leroy, Bart P; Silvestri, Giuliana; ... (2007). Development of a genotyping microarray for Usher syndrome. Journal of medical genetics, 44(2), pp. 153-60. London: BMJ Publishing Group 10.1136/jmg.2006.044784
Neidhardt, John; Glaus, Esther; Barthelmes, Daniel; Zeitz, Christina; Fleischhauer, Johannes; Berger, Wolfgang (2007). Identification and characterization of a novel RPGR isoform in human retina. Human mutation, 28(8), pp. 797-807. Hoboken, N.J.: Wiley-Blackwell 10.1002/humu.20521
Mátyás, Gábor; Alonso, Sira; Patrignani, Andrea; Marti, Myriam; Arnold, Eliane; Magyar, István; Henggeler, Caroline; Carrel, Thierry; Steinmann, Beat; Berger, Wolfgang (2007). Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome. Human genetics, 122(1), pp. 23-32. Berlin: Springer 10.1007/s00439-007-0371-x
Neidhardt, John; Barthelmes, Daniel; Farahmand, Firouzeh; Fleischhauer, Johannes C; Berger, Wolfgang (2006). Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes. Investigative ophthalmology & visual science, 47(4), pp. 1630-5. Hagerstown, Md.: Association for Research in Vision and Ophthalmology 10.1167/iovs.051317
Mátyás, Gábor; Arnold, Eliane; Carrel, Thierry; Baumgartner, Daniela; Boileau, Catherine; Berger, Wolfgang; Steinmann, Beat (2006). Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. Human mutation, 27(8), pp. 760-9. Hoboken, N.J.: Wiley-Blackwell 10.1002/humu.20353
