Business address

Molecular Genetics Laboratory
Institute for Ophthalmic Research
Centre for Ophthalmology,
University of Tübingen
Elfriede-Aulhorn-Strasse 7
D-72076 Tübingen,
Germany

Phone: +49 (0)7071 29-87618

E-mail: nicole.weisschuh[at]uni-tuebingen.de

The number of genes involved in inherited retinal diseases (IRDs) is large, and novel disease genes are still discovered. Both characteristics make IRDs a suitable and valuable model for the next-generation sequencing study of rare Mendelian disorders. My main research interest is to identify the underlying mutation in patients with IRDs, especially in those cases in which the genetic pathogenesis currently remains unresolved after applying panel-based and exome sequencing

ad hoc reviewer for scientific journals including BMC Medical Genetics, European Journal of Human Genetics, European Journal of Medical Genetics, European Journal of Ophthalmology, Genes, Human Mutation, Investigative Ophthalmology & Visual Science, Journal of Medical Genetics, Molecular Vision, Ophthalmic Research, Orphanet Journal of Rare Diseases, PLOSone, Scientific Reports

1. Reichel FF, Peters T, Wilhelm B, Biel M, Ueffing M, Wissinger B, Bartz-Schmidt KU, Klein R, Michalakis S, Fischer MD; RD-CURE Consortium. Humoral Immune Response After Intravitreal But Not After Subretinal AAV8 in Primates and Patients. Invest Ophthalmol Vis Sci 2018;59:1910-1915.
2. Wawrocka A, Skorczyk-Werner A, Wicher K, Niedziela Z, Ploski R, Rydzanicz M, Sykulski M, Kociecki J, Weisschuh N, Kohl S, Biskup S, Wissinger B, Krawczynski MR. Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy. Mol Vis 2018;24:326-339.
3. Feldhaus B, Kohl S, Hörtnagel K, Weisschuh N, Zobor D. Novel homozygous mutation in the SPATA7 gene causes autosomal recessive retinal degeneration in a consanguineous German family. Ophthalmic Genet 2018;39:131-134.
4. Nasser F, Weisschuh N, Maffei P, Milan G, Heller C, Zrenner E, Kohl S, Kuehlewein L. Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene. Acta Ophthalmol 2017 Nov 30
5. Reichel FF, Dauletbekov DL, Klein R, Peters T, Ochakovski GA, Seitz IP, Wilhelm B, Ueffing M, Biel M, Wissinger B, Michalakis S, Bartz-Schmidt KU, Fischer MD; RD-CURE Consortium. AAV8 Can Induce Innate and Adaptive Immune Response in the Primate Eye. Mol Ther 2017 pii: S1525-0016(17)30380-5.
6. Seitz IP, Michalakis S, Wilhelm B, Reichel FF, Ochakovski GA, Zrenner E, Ueffing M, Biel M, Wissinger B, Bartz-Schmidt KU, Peters T, Fischer MD; for the RD-CURE Consortium. Superior Retinal Gene Transfer and Biodistribution Profile of Subretinal Versus Intravitreal Delivery of AAV8 in Nonhuman Primates. Invest Ophthalmol Vis Sci 2017;58:5792-5801.
7. Skorczyk-Werner A, Chiang WC, Wawrocka A, Wicher K, Jarmuż-Szymczak M, Kostrzewska-Poczekaj M, Jamsheer A, Płoski R, Rydzanicz M, Pojda-Wilczek D, Weisschuh N, Wissinger B, Kohl S, Lin JH, Krawczyński MR. Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene. Eur J Hum Genet 2017;25:1210-1216.
8. Gramer G, Gramer E, Weisschuh N. Optic Disc Drusen and Family History of Glaucoma - Results of a Patient-directed Survey. J Glaucoma 2017;26:940-946.
9. Ochakovski GA, Peters T, Michalakis S, Wilhelm B, Wissinger B, Biel M, Bartz-Schmidt KU, Fischer MD; RD-CURE Consortium. Subretinal Injection for Gene Therapy Does Not Cause Clinically Significant Outer Nuclear Layer Thinning in Normal Primate Foveae. Invest Ophthalmol Vis Sci 2017;58:4155-4160.
10. Stingl K, Mayer AK, Llavona P, Mulahasanovic L, Rudolph G, Jacobson SG, Zrenner E, Kohl S, Wissinger B, Weisschuh N. CDHR1 mutations in retinal dystrophies. Sci Rep 2017;7:6992.
11. Aung T, N.N., Weisschuh N, N.N., Wiggs JL, Pasutto F, Khor CC. Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. Nat Genet 2017,49:993-1004.
12. Lisowska J, Lisowski L, Kelbsch C, Maeda F, Richter P, Kohl S, Zobor D, Strasser T, Stingl K, Zrenner E, Peters T, Wilhelm H, Fischer MD, Wilhelm B; RD-CURE Consortium. Development of a Chromatic Pupillography Protocol for the First Gene Therapy Trial in Patients With CNGA3-Linked Achromatopsia. Invest Ophthalmol Vis Sci 2017;58:1274-1282.
13. Zobor D, Werner A, Stanzial F, Benedicenti F, Rudolph G, Kellner U, Hamel C, Andréasson S, Zobor G, Strasser T, Wissinger B, Kohl S, Zrenner E; RD-CURE Consortium. The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial. Invest Ophthalmol Vis Sci 2017;58:821-832.
14. Vocke F, Weisschuh N, Marino V, Malfatti S, Jacobson SG, Reiff CM, Dell’Orco D, Koch K-W. Dysfunction of cGMP signalling in photoreceptors by a macular dystrophy-related mutation in the calcium sensor GCAP1. Hum Mol Genet 2017;26:133-144.
15. Kamme C, Mayer AK, Strom TM, Andréasson S, Weisschuh N. Genotype and Phenotype in an unusual form of Laurence–Moon–Bardet–Biedl syndrome. Acta Ophthalmol 2017;95:e250-e252.
16. Mauri L, Uebe S, Sticht H, Vossmerbaeumer U, Weisschuh N, Manfredini E, Maselli E, Patrosso M, Weinreb RN, Penco S, Reis A, Pasutto F. Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma. Orphanet J Rare Dis 2016;11:108.
17. Buena-Atienza E, Rüther K, Baumann B, Bergholz R, Birch D, De Baere E, Dollfus H, Greally MT, Gustavsson P, Hamel CP, Heckenlively JR, Leroy BP, Plomp AS, Pott JW, Rose K, Rosenberg T, Stark Z, Verheij JB, Weleber R, Zobor D, Weisschuh N, Kohl S, Wissinger B. De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy. Sci Rep 2016;6:28253.
18. Weisschuh N, Mayer AK, Strom TM, Kohl S, Glöckle N, Schubach M, Andreasson S, Bernd A, Birch DG, Hamel CP, Heckenlively JR, Jacobson SG, Kamme C, Kellner U, Kunstmann E, Maffei P, Reiff CM, Rohrschneider K, Rosenberg T, Rudolph G, Vámos R, Varsányi B, Weleber RG, Wissinger B. Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing. PLoS One 2016;11:e0145951.
19. Bailey JN, Loomis SJ, N.N, Weisschuh N, Wissinger B, N.N., Hauser MA, Pasquale LR, Haines JL, Wiggs JL. Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma. Nat Genet 2016; 48:189-94.
20. Mayer AK, Rohrschneider K, Strom TM, Glöckle N, Kohl S, Wissinger B, Weisschuh N. Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation. Eur J Hum Genet 2016;24:459-62.
21. Kohl S, Zobor D, Chiang WC, Weisschuh N, Staller J, Menendez IG, Chang S, Beck SC, Garcia Garrido M, Sothilingam V, Seeliger MW, Stanzial F, Benedicenti F, Inzana F, Héon E, Vincent A, Beis J, Strom TM, Rudolph G, Roosing S, Hollander AI, Cremers FP, Lopez I, Ren H, Moore AT, Webster AR, Michaelides M, Koenekoop RK, Zrenner E, Kaufman RJ, Tsang SH, Wissinger B, Lin JH. Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. Nat Genet 2015;47:757-65.
22. Schubert T, Gleiser C, Heiduschka P, Franz C, Nagel-Wolfrum K, Sahaboglu A, Weisschuh N, Eske G, Rohbock K, Rieger N, Paquet-Durand F, Wissinger B, Wolfrum U, Hirt B, Singer W, Rüttiger L, Zimmermann U, Knipper M. Deletion of myosin VI causes slow retinal optic neuropathy and age-related macular degeneration (AMD)-relevant retinal phenotype. Cell Mol Life Sci 2015;72:3953-69.
23. Ravesh Z, El Asrag ME, Weisschuh N, McKibbin M, Reuter P, Watson CM, Baumann B, Poulter JA, Sajid S, Panagiotou ES, O'Sullivan J, Abdelhamed Z, Bonin M, Soltanifar M, Black GC, Amin-ud Din M, Toomes C, Ansar M, Inglehearn CF, Wissinger B, Ali M. Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin. Mol Vis 2015;21:236-43.
24. Aung T, Ozaki M, Mizoguchi T, Allingham RR, N.N., Weisschuh N, N.N., Ritch R, Hauser MA, Khor CC. A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome. Nat Genet 2015;47:387-92
25. Hipp S, Zobor G, Glöckle N, Mohr J, Kohl S, Zrenner E, Weisschuh N, Zobor D. Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene. Acta Ophthalmol 2015;93:e281-6.
26. Bauwens M, De Zaeytijd J, Weisschuh N, Kohl S, Meire F, Dahan K, Depasse F, De Jaegere S, De Ravel T, De Rademaeker M, Loeys B, Coppieters F, Leroy BP, De Baere E. An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients. Hum Mutat 2015; 36:39-42.
27. Glöckle N, Kohl S, Mohr J, Scheurenbrand T, Sprecher A, Weisschuh N, Bernd A, Rudolph G, Schubach M, Poloschek C, Zrenner E, Biskup S, Berger W, Wissinger B, Neidhardt J. Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. Eur J Hum Genet 2014; 22:99-104.
28. ·Roosing S, Rohrschneider K, Beryozkin A, Sharon D, Weisschuh N, Staller J, Kohl S, Zelinger L, Peters TA, Neveling K, Strom TM; European Retinal Disease Consortium, van den Born LI, Hoyng CB, Klaver CC, Roepman R, Wissinger B, Banin E, Cremers FP, den Hollander AI. Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. Am J Hum Genet 2013;93:110-117.
29. van Koolwijk LM, Ramdas WD, N.N., Aulchenko YS, Weisschuh N, Zenkel M, Mardin CY, Gramer E, N.N., Reis A, Hammond CJ, Vingerling JR, Lemij HG, Klaver CC, van Duijn CM. Common genetic determinants of intraocular pressure and primary open-angle glaucoma. PLoS Genet 2012;8:e1002611.
30. Weisschuh N, Wissinger B, Gramer E. A splice site mutation in the PAX6 gene which induces exon skipping causes autosomal dominant inherited aniridia. Mol Vis 2012;18:751-757.
31. Weisschuh N, Aisenbrey S, Wissinger B, Riess A. Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract. Mol Vis 2012;18:174-180.
32. Pasutto F, Keller KE, Weisschuh N, Sticht H, Samples JR, Yang YF, Zenkel M, Schlötzer-Schrehardt U, Mardin CY, Frezzotti P, Edmunds B, Kramer PL, Gramer E, Reis A, Acott TS, Wirtz MK. Variants in ASB10 are associated with open-angle glaucoma. Hum Mol Genet 2012;21:1336-1349.
33. Ramdas WD, van Koolwijk LM, Lemij HG, Pasutto F, Cree AJ, Thorleifsson G, Janssen SF, Ten Brink J, Amin N, Rivadeneira F, Wolfs RC, Walters GB, Jonasson F, Weisschuh N, Mardin CY, Gibson J, Zegers RH, Hofman A, de Jong PT, Uitterlinden AG, Oostra BA, Thorsteinsdottir U, Gramer E, Welgen-Lüßen UC, Kirwan JF, Bergen AA, Reis A, Stefansson K, Lotery AJ, Vingerling JR, Jansonius NM, Klaver CC, van Duijn CM. Common genetic variants associated with open-angle glaucoma. Hum Mol Genet 2011;20:2464-2471.
34. Fernández-Martínez L, Letteboer S, Mardin CY, Weisschuh N, Gramer E, Weber BH, Rautenstrauss B, Ferreira PA, Kruse FE, Reis A, Roepman R, Pasutto F. Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma. Eur J Hum Genet 2011;19:445-451.
35. Krumbiegel M, Pasutto F, Schlötzer-Schrehardt U, Uebe S, Zenkel M, Mardin CY, Weisschuh N, Paoli D, Gramer E, Becker C, Ekici AB, Weber BH, Nürnberg P, Kruse FE, Reis A. Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome. Eur J Hum Genet 2011;19:186-193.
36. Weisschuh, N. Digenic inheritance in Axenfeld-Rieger Syndrome. Hum Mut 2011;32, page IV.
37. Weisschuh N, De Baere E, Wissinger B, Tümer Z. Clinical utility gene card for: Axenfeld-Rieger syndrome. Eur J Hum Genet 2011;19:p1
38. Krumbiegel M, Pasutto F, Mardin CY, Weisschuh N, Paoli D, Gramer E, Weber BH, Kruse FE, Schlötzer-Schrehardt U, Reis A. Apolipoprotein E genotypes in pseudoexfoliation syndrome and pseudoexfoliation glaucoma. J Glaucoma 2010;19:561-565.
39. Dressler S, Meyer-Marcotty P, Weisschuh N, Jablonski-Momeni A, Pieper K, Gramer G, Gramer E. Dental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 Mutation. Case Report Med 2010:621984.
40. Wolf C, Gramer E, Müller-Myhsok B, Pasutto F, Wissinger B, Weisschuh N. Mitochondrial haplogroup U is associated with a reduced risk to develop exfoliation glaucoma in the German population. BMC Genet 2010;11:8
41. Wolf C, Gramer E, Müller-Myhsok B, Pasutto F, Gramer G, Wissinger B, Weisschuh N. Lysyl oxidase-like 1 gene polymorphisms in German patients with normal tension glaucoma, pigmentary glaucoma and exfoliation glaucoma. J Glaucoma 2010;19:136-141.
42. Pasutto F, Matsumoto T, Mardin CY, Sticht H, Brandstätter JH, Michels-Rautenstrauss K, Weisschuh N, Gramer E, Ramdas WD, van Koolwijk LM, Klaver CC, Vingerling JR, Weber BH, Kruse FE, Rautenstrauss B, Barde YA, Reis A. Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma. Am J Hum Genet 2009;85:447-456.
43. Wolf C, Gramer E, Müller-Myhsok B, Pasutto F, Reinthal E, Wissinger B, Weisschuh N. Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study. BMC Med Genet 2009;10:91-98.
44. Weisschuh N, Wolf C, Wissinger B, Gramer E. A Clinical and Molecular Genetic Study of German Patients with Primary Congenital Glaucoma. Am J Ophthalmol 2009;47:744-753.
45. Krumbiegel M, Pasutto F, Mardin CY, Weisschuh N, Paoli D, Gramer E, Zenkel M, Weber BH, Kruse FE, Schlotzer-Schrehardt UM, Reis A. Exploring functional candidate genes for genetic association in German patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma. Invest Ophthalmol Vis Sci 2009;50:2796-2801.
46. Meyer-Marcotty P, Weisschuh N, Dressler P, Hartmann J, Stellzig-Eisenhauer A. Morphology of the sella turcica in Axenfeld-Rieger syndrome with PITX2 mutation. J Oral Pathol Med 2008;37:504-510.
47. Weisschuh N, Wolf C, Wissinger B, Gramer E. A novel mutation in the FOXC1 gene in a family with Axenfeld Rieger malformation and Peters anomaly. Clin Genet 2008;74:476-480.
48. Weisschuh N, Alavi M, Bonin M, Wissinger B. Identification of genes that are linked with optineurin expression using a combined RNAi-Microarray approach. Exp Eye Res 2007;85:450-461.
49. Weisschuh N, Wolf C, Wissinger B, Gramer E. Variations in the WDR36 gene in german patients with normal tension glaucoma. Mol Vis 2007;13:724-729.
50. Weisschuh N, Dressler P, Schuettauf F, Wolf C, Wissinger B, Gramer E. Novel Mutations of FOXC1 and PITX2 in Patients with Axenfeld-Rieger Malformation. Invest Ophthalmol Vis Sci 2006;47:3846-3852.
51. Schuster A, Weisschuh N, Jägle H, Besch D, Janecke A, Zierler D, Tippmann S, Zrenner E, Wissinger B. Novel Rhodopsin mutations and genotype-phenotype correlation in patients with autosomal-dominant retinitis pigmentosa. Br J Ophthalmol 2005;89:1258-1264.
52. Weisschuh N, Neumann D, Wolf C, Wissinger B, Gramer E. Prevalence of myocilin and optineurin sequence variants in german normal tension glaucoma patients. Mol Vis 2005;11:284-287.
53. Weisschuh N, Schiefer U. Progress in the genetics of glaucoma. Dev Ophthalmol 2003;37:83-93.