Susanne Kohl

In the past two decades there has been tremendous progress in defining the genetic basis of inherited retinal disease. Especially the completion of the human genome project and the development of new technologies for genetic analysis and testing (i.e. next generation sequencing) have brought unprecedented possibilities. Today, 50-90% of patients can be genotyped by analyzing the known genes for inherited disease in one step. But still - especially for cone photoreceptor disorders - a considerable fraction of patients remain genetically unsolved, suggesting that we are still missing a small number of genes associated with these rare disorders, and certainly we miss special types of mutations by our usually still exon focused screening approaches. In addition, the disease pathomechanims often remain to be discovered.

My main research focus lies on the identification of genes and mutations for autosomal recessive achromatopsia. It is a very rare disorder characterized by low vision, complete colorblindness and strong glare, and maybe it is best characterized as ‘dayblindness’ (hemeralopia) in addition to the term 'complete colorblindness'. I have been involved in the identification and characterization of all known genes - namely CNGA3, CNGB3, GNAT2, PDE6C and PDE6H - which are all crucial components of the cone phototransduction cascade, as well as ATF6, encoding a transcription factor, which is known for its function as a key regulator of the unfolded protein response and cellular endoplasmic reticulum homeostasis. The latter finding was very surprising, and we still do not understand why mutations in ATF6 result in a clinically indistinguishable achromatopsia phenotype compared to the cone phototransduction gene associated achromatopsia.

The most important milestone in my personal scientific career was the participation in the world’s first gene therapy trial for CNGA3-associated achromatopsia that was completed in 2017 here in Tübingen. This study gives my research a deeper meaning - our research does not only “use” our patients entrusting their samples to our studies, but it is also “for” our patients aiming to enable development of therapeutic concepts for these disabling eye diseases.

Due to our long-lasting interest in this disorder, we have collected probably the world's largest patient cohort with more than 1,300 patients and 1,000 families. Yet 20- 30% of patients do not show mutations in the known genes. In these patients we are continuing our efforts to identify new genes and mutation applying the current state-of-the-art analysis techniques including exome and genome sequencing.

In addition - and linked to this, I am in charge of the RetDis biobank and database, which currently holds over 30.000 DNA samples of over 17.000 individuals belonging to families with patients affected by inherited retinal dystrophies, inherited disease of the optic nerve and familial glaucoma. For the inherited retinal dystrophies, these samples correspond to ~8,000 patients from over 6,000 families.

• ad hoc reviewer for several scientific journals (New England Journal of Medicine, PNAS, PlosOne, Human Genetics, Ophthalmology, Orphanet, Ophthalmic Genetics, Molecular Vision).
• ad hoc reviewer for local and international funding agencies (Fight for Sight (UK), Binational Science Foundation BSF – United States / Israel (USA/IL), fortüne (Tuebingen, D).

• Association for Research in Vision and Ophthalmology

1. Felden J, Baumann B, Ali M, Audo I, Ayuso C, Bocquet B, Casteels I, Garcia-Sandoval B, Jacobson SG, Jurklies B, Kellner U, Kessel L, Lorenz B, McKibbin M, Meunier I, de Ravel T, Rosenberg T, Rüther K, Vadala M, Wissinger B, Stingl K, Kohl S. Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene. Hum Mutat. 2019 May 6. doi: 10.1002/humu.23768. [Epub ahead of print]
2. Mayer AK, Mahajnah M, Thomas MG, Cohen Y, Habib A, Schulze M, Maconachie GDE, AlMoallem B, De Baere E, Lorenz B, Traboulsi EI, Kohl S, Azem A, Bauer P, Gottlob I, Sharkia R, Wissinger B. Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus. Brain. 2019 Apr 22. pii: awz098. doi: 10.1093/brain/awz098. [Epub ahead of print]
3. Nasser F, Kohl S, Kuehlewein L, Wissinger B, Obermaier CD, Kurtenbach A, Zrenner E. A case of X-linked retinoschisis with atypical fundus appearance. Doc Ophthalmol. 2019 Apr 20. doi: 10.1007/s10633-019-09698-3. [Epub ahead of print]
4. Schatz A, Kelbsch C, Zeitz C, Kohl S, Zrenner E, Gekeler F, Wilhelm H, Wilhelm B, Willmann G. Disinhibition of intrinsic photosensitive retinal ganglion cells in patients with X-linked congenital stationary night blindness. Graefes Arch Clin Exp Ophthalmol. 2019 Jun;257(6):1207-1215. doi: 10.1007/s00417-019-04319-w. Epub 2019 Apr 13.
5. Peters T, Seitz IP, Michalakis S, Biel M, Wilhelm B, Reichel FF, Ochakovski GA, Zrenner E, Ueffing M, Korbmacher B, Korte S, Bartz-Schmidt KU, Fischer MD, RD-Cure Consortium. Safety and toxicology of ocular gene therapy with recombinant AAV Vector rAAV.hCNGA3 in non-human primates.  Hum Gene Ther Clin Dev. 2019 Mar 13. doi: 10.1089/humc.2018.188. [Epub ahead of print] as member of the RD-Cure Consortium
6. Nasser F, Kurtenbach A, Kohl S, Obermaier C, Stingl K, Zrenner E. Retinal dystrophies with bull's-eye maculopathy along with negative ERGs. Doc Ophthalmol. 2019 Apr 3. doi: 10.1007/s10633-019-09694-7. [Epub ahead of print]
7. Zeitz C, Michiels C, Neuillé M, Friedburg C, Condroyer C, Boyard F, Antonio A, Bouzidi N, Milicevic D, Veaux R, Tourville A, Zoumba A, Seneina I, Foussard M, Andrieu C, N Preising M, Blanchard S, Saraiva JP, Mesrob L, Le Floch E, Jubin C, Meyer V, Blanché H, Boland A, Deleuze JF, Sharon D, Drumare I, Defoort-Dhellemmes S, De Baere E, Leroy BP, Zanlonghi X, Casteels I, de Ravel TJ, Balikova I, K Koenekoop R, Laffargue F, McLean R, Gottlob I, Bonneau D, Schorderet DF, L Munier F, McKibbin M, Prescott K, Pelletier V, Dollfus H, Perdomo-Trujillo Y, Faure C, Reiff C, Wissinger B, Meunier I, Kohl S, Banin E, Zrenner E, Jurklies B, Lorenz B, Sahel JA, Audo I. Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders. Hum Mutat. 2019 Mar 2. doi: 10.1002/humu.23735. [Epub ahead of print]
8. Bauwens M, Garanto A, Sangermano R, Naessens S, Weisschuh N, De Zaeytijd J, Khan M, Sadler F, Balikova I, Van Cauwenbergh C, Rosseel T, Bauwens J, De Leeneer K, De Jaegere S, Van Laethem T, De Vries M, Carss K, Arno G, Fakin A, Webster AR, de Ravel de l'Argentière TJL, Sznajer Y, Vuylsteke M, Kohl S, Wissinger B, Cherry T, Collin RWJ, Cremers FPM, Leroy BP, De Baere E. ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants. Genet Med. 2019 Jan 23. doi: 10.1038/s41436-018-0420-y. [Epub ahead of print]
9. Kuehlewein L, Schöls L, Llavona P, Grimm A, Biskup S, Zrenner E, Kohl S. Phenotypic spectrum of autosomal recessive retinitis pigmentosa without posterior column ataxia caused by mutations in the FLVCR1 gene. Graefes Arch Clin Exp Ophthalmol. 2019 Jan 17. doi: 10.1007/s00417-018-04233-7. [Epub ahead of print]
10. Weisschuh N, Feldhaus B, Khan MI, Cremers FPM, Kohl S, Wissinger B, Zobor D. Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis. PLoS One. 2018 Dec 21;13(12):e0205380. doi: 10.1371/journal.pone.0205380. eCollection 2018.
11. William A, Kohl S, Zeitz C, Willmann G, Zrenner E, Bartz-Schmidt KU, Gekeler F, Schatz A. Macular sensitivity in patients with congenital stationary night-blindness. Br J Ophthalmol. 2018 Dec 20. pii: bjophthalmol-2018-313072. doi: 10.1136/bjophthalmol-2018-313072. [Epub ahead of print]
12. Sumaroka A, Garafalo AV, Cideciyan AV, Charng J, Roman AJ, Choi W, Saxena S, Aksianiuk V, Kohl S, Wissinger B, Jacobson SG (2018) Blue Cone Monochromacy caused by the C203R missense mutation or large deletion mutations. Investigative Ophthalmology & Visual Sciences 59(15): 5762-5772. PMID: 30516820
13. Burkard M*, Kohl S*, Krätzig T, Tanimoto N, Brennenstuhl C, Bausch AE, Junger K, Reuter P, Sothilingam V, Beck SC, Huber G, Ding XQ, Mayer AK, Baumann B, Weisschuh N, Zobor D, Hahn GA, Kellner U, Venturelli S, Becirovic E, Charbel Issa P, Koenekoop RK, Rudolph G, Heckenlively J, Sieving P, Weleber RG, Hamel C, Zong X, Biel M, Lukowski R, Seeliger MW, Michalakis S, Wissinger B, Ruth P. Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy. J Clin Invest. 2018 Dec 3;128(12):5663-5675. pii: 96098. doi: 10.1172/JCI96098. [Epub ahead of print]
14. Kohl S, Jägle H, Wissinger B, Zobor D. Achromatopsia. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. 2004 Jun 24 [updated 2018 Sep 20].
15. Kahle NA, Peters T, Zobor D, Kuehlewein L, Kohl S, Zhour A, Werner A, Seitz IP, Sothilingam V, Michalakis S, Biel M, Ueffing M, Zrenner E, Bartz-Schmidt KU, Fischer MD, Wilhelm BJC. Development of Methodology and Study Protocol: Safety and Efficacy of a Single Subretinal Injection of rAAV.hCNGA3 in Patients with CNGA3-Linked Achromatopsia Investigated in an Exploratory Dose-Escalation Trial. Hum Gene Ther Clin Dev. 2018 Sep;29(3):121-131. doi: 10.1089/humc.2018.088.
16. Weisschuh N, Stingl K, Audo I, Biskup S, Bocquet B, Branham K, Burstedt MS, De Baere E, De Vries MJ, Golovleva I, Green A, Heckenlively J, Leroy BP, Meunier I, Traboulsi E, Wissinger B, Kohl S. Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia. Hum Mutat. 2018 Oct;39(10):1366-1371. doi: 10.1002/humu.23606. Epub 2018 Aug 22.
17. Zobor D, Zobor G, Hipp S, Baumann B, Weisschuh N, Biskup S, Sliesoraityte I, Zrenner E, Kohl S. Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort. Invest Ophthalmol Vis Sci. 2018 Jun 1;59(7):3041-3052. doi: 10.1167/iovs.18-24033.
18. Kurtenbach A, Hahn G, Kernstock C, Hipp S, Zobor D, Stingl K, Kohl S, Bonnet C, Mohand-Saïd S, Sliesoraityte I, Sahel JA, Audo I, Fakin A, Hawlina M, Testa F, Simonelli F, Petit C, Zrenner E. Usher Syndrome and Color Vision. Curr Eye Res. 2018 Oct;43(10):1295-1301. doi: 10.1080/02713683.2018.1501804. Epub 2018 Jul 30.
19. Charbel Issa P, Reuter P, Kühlewein L, Birtel J, Gliem M, Tropitzsch A, Whitcroft KL, Bolz HJ, Ishihara K, MacLaren RE, Downes SM, Oishi A, Zrenner E, Kohl S, Hummel T. Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa. JAMA Ophthalmol. 2018 Jul 1;136(7):761-769. doi: 10.1001/jamaophthalmol.2018.1621.
20. Buena-Atienza E, Nasser F, Kohl S, Wissinger B. A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report. BMC Med Genet. 2018 Jun 26;19(1):107. doi: 10.1186/s12881-018-0623-8.
21. Charbel Issa P, Reuter P, Kühlewein L, Birtel J, Gliem M, Tropitzsch A, Whitcroft KL, Bolz HJ, Ishihara K, MacLaren RE, Downes SM, Oishi A, Zrenner E, Kohl S, Hummel T. Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa. JAMA Ophthalmol. 2018 Jul 1;136(7):761-769. doi: 10.1001/jamaophthalmol.2018.1621.
22. 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 Apr 26;24:326-339. eCollection 2018.
23. Matet A, Kohl S, Baumann B, Antonio A, Mohand-Said S, Sahel JA, Audo I. Multimodal imaging including semiquantitative short-wavelength and near-infrared autofluorescence in achromatopsia. Sci Rep. 2018 Apr 4;8(1):5665. doi: 10.1038/s41598-018-23919-w.
24. Täger J, Kohl S, Birch D, Wheaton DKH, Wissinger B, Reuter P. An early nonsense mutation facilitates the expression of a short isoform of CNGA3 by alternative translation initiation. Exp Eye Res. 2018 Feb 27. pii: S0014-4835(17)30389-5. doi: 10.1016/j.exer.2018.02.027. [Epub ahead of print]
25. 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. doi: 10.1111/aos.13612. [Epub ahead of print]
26. Llavona P, Pinelli M, Mutarelli M, Marwah VS, Schimpf-Linzenbold S, Thaler S, Yoeruek E, Vetter J, Kohl S, Wissinger B. Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases. Genes (Basel). 2017 Oct 20;8(10). pii: E283. doi: 10.3390/genes8100283.
27. Maguire J, McKibbin M, Khan K, Kohl S, Ali M, McKeefry D. CNGB3 mutations cause severe rod dysfunction. Ophthalmic Genet. 2017 Sep 20:1-7. doi: 10.1080/13816810.2017.1368087. [Epub ahead of print]
28. Bellingrath JS, Ochakovski GA, Seitz IP, Kohl S, Zrenner E, Hanig N, Prokisch H, Weber BH, Downes SM, Ramsden S, MacLaren RE, Fischer MD. High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis Pigmentosa. Invest Ophthalmol Vis Sci. 2017 Sep 1;58(11):4457-4466. doi: 10.1167/iovs.17-22077.
29. 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 Aug 16. doi: 10.1038/ejhg.2017.131. [Epub ahead of print]
30. Mayer AK, Van Cauwenbergh C, Rother C, Baumann B, Reuter P, De Baere E, Wissinger B, Kohl S; ACHM Study Group. CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients. Hum Mutat. 2017 Nov;38(11):1579-1591. doi: 10.1002/humu.23311. [Epub ahead of print]
31. 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. Scientific Reports 2017; 7:6992.
32. Van Schil K, Naessens S, Van de Sompele S, Carron M, Aslanidis A, Van Cauwenbergh C, Kathrin Mayer A, Van Heetvelde M, Bauwens M, Verdin H, Coppieters F, Greenberg ME, Yang MG, Karlstetter M, Langmann T, De Preter K, Kohl S, Cherry TJ, Leroy BP, De Baere E. Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations. Genet Med. 2017 Jul 27. doi: 10.1038/gim.2017.97. [Epub ahead of print]
33. 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 Jan-Feb;39(1):131-134. doi: 10.1080/13816810.2017.1318925. Epub 2017 May 8.
34. 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 Feb 1;58(2):1274-1282. doi: 10.1167/iovs.16-20505.
35. 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 Feb 1;58(2):821-832. doi: 10.1167/iovs.16-20427. *shared senior authorship
36. Chiang WC, Chan P, Wissinger B, Vincent A, Skorczyk-Werner A, Krawczyński MR, Kaufman RJ, Tsang SH, Héon E, Kohl S, Lin JH. Achromatopsia mutations target sequential steps of ATF6 activation. Proc Natl Acad Sci U S A. 2017 Jan 10;114(2):400-405. doi: 10.1073/pnas.1606387114. Epub 2016 Dec 27.
37. Kuehlewein L, Nasser F, Gloeckle N, Kohl S, Zrenner E. FUNDUS ALBIPUNCTATUS ASSOCIATED WITH CONE DYSFUNCTION. Retin Cases Brief Rep. 2016 Sep 13. [Epub ahead of print] PMID: 27627638
38. Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač D, Jarc-Vidmar M, Zupan A, Battelino S, Martorell Sampol L, Claveria MA, Catala Mora J, Dad S, Møller LB, Rodriguez Jorge J, Hawlina M, Auricchio A, Sahel JA, Marlin S, Zrenner E, Audo I, Petit C. An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. Eur J Hum Genet. 2016 Dec;24(12):1730-1738. doi: 10.1038/ejhg.2016.99. PMID: 27460420
39. 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 Jun 24;6:28253. doi: 10.1038/srep28253. PMID: 27339364
40. Arno G, Holder GE, Chakarova C, Kohl S, Pontikos N, Fiorentino A, Plagnol V, Cheetham ME, Hardcastle AJ, Webster AR, Michaelides M; UK Inherited Retinal Disease Consortium. Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3). JAMA Ophthalmol. 2016 Aug 1;134(8):924-7. doi: 10.1001/jamaophthalmol.2016.1543. PMID: 27281386
41. Chan P, Stolz J, Kohl S, Chiang WC, Lin JH. Endoplasmic reticulum stress in human photoreceptor diseases. Brain Res. 2016 Oct 1;1648(Pt B):538-541. doi: 10.1016/j.brainres.2016.04.021. Epub 2016 Apr 23. Review.
42. Vincent A, Audo I, Tavares E, Maynes JT, Tumber A, Wright T, Li S, Michiels C; GNB3 Consortium, Condroyer C, MacDonald H, Verdet R, Sahel JA, Hamel CP, Zeitz C, Héon E. Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness. Am J Hum Genet. 2016 May 5;98(5):1011-9. doi: 10.1016/j.ajhg.2016.03.021. Epub 2016 Apr 7. As part of the GNB3 consortium
43. Kohl S, Jägle H, Wissinger B. Achromatopsia. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. 2004 Jun 24 [updated 2016 Feb 25].
44. Becirovic E, Böhm S, Nguyen ON, Riedmayr LM, Koch MA, Schulze E, Kohl S, Borsch O, Santos-Ferreira T, Ader M, Michalakis S, Biel M. In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors. PLoS Genet. 2016 Jan 21;12(1):e1005811. doi: 10.1371/journal.pgen.1005811. eCollection 2016 Jan.
45. 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 Jan 14;11(1):e0145951. doi: 10.1371/journal.pone.0145951. eCollection 2016.
46. Zobor D, Zobor G, Kohl S. Achromatopsia: On the Doorstep of a Possible Therapy. Ophthalmic Res. 2015;54(2):103-8. doi: 10.1159/000435957. Epub 2015 Aug 21.
47. Zelinger L, Cideciyan AV, Kohl S, Schwartz SB, Rosenmann A, Eli D, Sumaroka A, Roman AJ, Luo X, Brown C, Rosin B, Blumenfeld A, Wissinger B, Jacobson SG, Banin E, Sharon D. Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy. Ophthalmology 2015; 122: 997-1007.
48. 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. 2015 Jul 8. doi: 10.1038/ejhg.2015.144. [Epub ahead of print]
49. Kohl S, Zobor D, Chiang WC, Weisschuh N, Staller J, Menendez IG, Chang S, Beck SC, Garrido MG, 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 Jul;47(7):757-65.
50. Lee H, Purohit R, Sheth V, McLean RJ, Kohl S, Leroy BP, Sundaram V, Michaelides M, Proudlock FA, Gottlob I. Retinal Development in Infants and Young Children with Achromatopsia. Ophthalmology. 2015 Oct;122(10):2145-7. doi: 10.1016/j.ophtha.2015.03.033. Epub 2015 May 9.
51. Luo X, Cideciyan AV, Iannaccone A, Roman AJ, Ditta LC, Jennings BJ, Yatsenko SA, Sheplock R, Sumaroka A, Swider M, Schwartz SB, Wissinger B, Kohl S, Jacobson SG. Blue Cone Monochromacy: Visual Function and Efficacy Outcome Measures for Clinical Trials. PLoS One. 2015 Apr 24;10(4):e0125700. doi: 10.1371/journal.pone.0125700. eCollection 2015.
52. Seitz IP, Zhour A, Kohl S, Llavona P, Peter T, Wilhelm B, Zrenner E, Ueffing M, Bartz-Schmidt KU, Fischer MD. Multimodal assessment of choroideremia patients defines pre-treatment characteristics. Graefes Arch Clin Exp Ophthalmol. 2015 Mar 7. [Epub ahead of print]
53. Astuti GD, Sun V, Bauwens M, Zobor D, Leroy BP, Omar A, Jurklies B, Lopez I, Ren H, Yazar V, Hamel C, Kellner U, Wissinger B, Kohl S, De Baere E, Collin RW, Koenekoop RK. Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy. Mol Genet Genomic Med. 2015 Jan;3(1):14-29. doi: 10.1002/mgg3.109. Epub 2014 Sep 15.
54. 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 Non-coding Regions Reveals a Deep Intronic Founder Variant in Belgian Stargardt Patients. Hum Mutat. 2015 Jan;36(1):39-42. doi: 10.1002/humu.22716.
55. Greenberg JP, Sherman J, Zweifel SA, Chen RW, Duncker T, Kohl S, Baumann B, Wissinger B, Yannuzzi LA, Tsang SH. Spectral-domain optical coherence tomography staging and autofluorescence imaging in achromatopsia. JAMA Ophthalmol. 2014 Apr 1;132(4):437-45. doi: 10.1001/jamaophthalmol.2013.7987.
56. Remez L, Zobor D, Kohl S, Ben-Yosef T. The progressive rod-cone degeneration (PRCD) protein is secreted through the conventional ER/Golgi-dependent pathway. Exp Eye Res. 2014 Aug;125:217-25. doi: 10.1016/j.exer.2014.06.017. Epub 2014 Jun 30.
57. Siemiatkowska AM, van den Born LI, van Genderen MM, Bertelsen M, Zobor D, Rohrschneider K, van Huet RA, Nurohmah S, Klevering BJ, Kohl S, Faradz SM, Rosenberg T, den Hollander AI, Collin RW, Cremers FP. Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis. Mol Vis. 2014 Jun 2;20:753-9. eCollection 2014.
58. Zobor D, Zrenner E, Wissinger B, Kohl S, Jägle H. GUCY2D- OR GUCA1A-RELATED AUTOSOMAL DOMINANT CONE-ROD DYSTROPHY: Is There a Phenotypic Difference? Retina. 2014 Aug;34(8):1576-87
59. Vincent AL, Carroll J, Fishman GA, Sauer A, Sharp D, Summerfelt P, Williams V, Dubis AM, Kohl S, Wong F. Rhodopsin F45L Allele Does Not Cause Autosomal Dominant Retinitis Pigmentosa in a Large Caucasian Family. Transl Vis Sci Technol. 2013 Feb;2(2):4. Epub 2013 Mar 13.
60. Cideciyan AV, Hufnagel RB, Carroll J, Sumaroka A, Luo X, Schwartz SB, Dubra A, Land M, Michaelides M, Gardner JC, Hardcastle AJ, Moore AT, Sisk RA, Ahmed Z, Kohl S, Wissinger B, Jacobson SG. Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy. Hum Gene Ther. 2013 Sep 25. [Epub ahead of print]
61. Manes G, Meunier I, Avila-Fernández A, Banfi S, Le Meur G, Zanlonghi X, Corton M, Simonelli F, Brabet P, Labesse G, Audo I, Mohand-Said S, Zeitz C, Sahel JA, Weber M, Dollfus H, Dhaenens CM, Allorge D, De Baere E, Koenekoop RK, Kohl S, Cremers FP, Hollyfield JG, Sénéchal A, Hebrard M, Bocquet B, García CA, Hamel CP. Mutations in IMPG1 Cause Vitelliform Macular Dystrophies. Am J Hum Genet. 2013 Aug 29. doi:pii: S0002-9297(13)00338-8. 10.1016/j.ajhg.2013.07.018. [Epub ahead of print]
62. Fahim AT, Khan NW, Zahid S, Schachar IH, Branham K, Kohl S, Wissinger B, Elner VM, Heckenlively JR, Jayasundera T. Diagnostic Fundus Autofluorescence Patterns in Achromatopsia. Am J Ophthalmol. 2013 Dec;156(6):1211-1219.e2. doi: 10.1016/j.ajo.2013.06.033. Epub 2013 Aug 20.
63. Pach J, Kohl S, Gekeler F, Zobor D. Identification of a novel mutation in the PRCD gene causing autosomal recessive retinitis pigmentosa in a Turkish family. Mol Vis. 2013 Jun 13;19:1350-5. Print 2013.
64. van Huet RA, Estrada-Cuzcano A, Banin E, Rotenstreich Y, Hipp S, Kohl S, Hoyng CB, den Hollander AI, Collin RW, Klevering BJ. Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the c8orf37 gene. Invest Ophthalmol Vis Sci. 2013 Jul 12;54(7):4683-90. doi: 10.1167/iovs.12-11439.
65. 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 Jul 11;93(1):110-7. doi: 10.1016/j.ajhg.2013.05.005. Epub 2013 Jun 6.
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67. Zelinger L, Wissinger B, Eli D, Kohl S, Sharon D, Banin E. Cone Dystrophy with Supernormal Rod Response: Novel KCNV2 Mutations in an Underdiagnosed Phenotype. Ophthalmology. 2013 May 29. doi:pii: S0161-6420(13)00316-3. 10.1016/j.ophtha.2013.03.031. [Epub ahead of print]
68. 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 Jan;22(1):99-104. doi: 10.1038/ejhg.2013.72. Epub 2013 Apr 17. * shared first authorship
69. Peluso I, Conte I, Testa F, Dharmalingam G, Pizzo M, Collin RW, Meola N, Barbato S, Mutarelli M, Ziviello C, Barbarulo AM, Nigro V, Melone MA; European Retinal Disease Consortium, Simonelli F, Banfi S. The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy. Orphanet J Rare Dis. 2013 Jan 28;8:16. doi: 10.1186/1750-1172-8-16.
70. Bocquet B, Lacroux A, Surget MO, Baudoin C, Marquette V, Manes G, Hebrard M, Sénéchal A, Delettre C, Roux AF, Claustres M, Dhaenens CM, Rozet JM, Perrault I, Bonnefont JP, Kaplan J, Dollfus H, Amati-Bonneau P, Bonneau D, Reynier P, Audo I, Zeitz C, Sahel JA, Paquis-Flucklinger V, Calvas P, Arveiler B, Kohl S, Wissinger B, Blanchet C, Meunier I, Hamel CP. Relative Frequencies of Inherited Retinal Dystrophies and Optic Neuropathies in Southern France: Assessment of 21-year Data Management. Ophthalmic Epidemiol. 2013;20(1):13-25. doi: 10.3109/09286586.2012.737890.
71. Kohl S, Hamel C. Clinical utility gene card for: Achromatopsia - update 2013. Eur J Hum Genet. 2013 Mar 13. doi: 10.1038/ejhg.2013.44
72. Perrault I, Estrada-Cuzcano A, Lopez I, Kohl S, Li S, Testa F, Zekveld-Vroon R, Wang X, Pomares E, Andorf J, Aboussair N, Banfi S, Delphin N, den Hollander AI, Edelson C, Florijn R, Jean-Pierre M, Leowski C, Megarbane A, Villanueva C, Flores B, Munnich A, Ren H, Zobor D, Bergen A, Chen R, Cremers FP, Gonzalez-Duarte R, Koenekoop RK, Simonelli F, Stone E, Wissinger B, Zhang Q, Kaplan J, Rozet JM. Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype. PLoS One. 2013;8(1):e51622. doi: 10.1371/journal.pone.0051622. Epub 2013 Jan 7.
73. Zeitz C, Jacobson SG, Hamel CP, Bujakowska K, Neuillé M, Orhan E, Zanlonghi X, Lancelot ME, Michiels C, Schwartz SB, Bocquet B; Congenital Stationary Night Blindness Consortium, Antonio A, Audier C, Letexier M, Saraiva JP, Luu TD, Sennlaub F, Nguyen H, Poch O, Dollfus H, Lecompte O, Kohl S, Sahel JA, Bhattacharya SS, Audo I. Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet. 2013 Jan 10;92(1):67-75. doi: 10.1016/j.ajhg.2012.10.023. Epub 2012 Dec 13.
74. Kohl S, Biskup S. [Genetic Diagnostic Testing in Inherited Retinal Dystrophies.] Klin Monbl Augenheilkd. 2013;3(230):243-6. [Epub 2013 Dec 3] German.
75. Estrada-Cuzcano A, Koenekoop RK, Senechal A, De Baere EB, de Ravel T, Banfi S, Kohl S, Ayuso C, Sharon D, Hoyng CB, Hamel CP, Leroy BP, Ziviello C, Lopez I, Bazinet A, Wissinger B, Sliesoraityte I, Avila-Fernandez A, Littink KW, Vingolo EM, Signorini S, Banin E, Mizrahi-Meissonnier L, Zrenner E, Kellner U, Collin RW, den Hollander AI, Cremers FP, Klevering BJ. BBS1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome. Arch Ophthalmol. 2012 Nov 1;130(11):1425-32. doi: 10.1001/archophthalmol.2012.2434.
76. Zobor D, Kohl S, Wissinger B, Zrenner E, Jägle H. Rod and Cone Function in Patients with KCNV2 Retinopathy. PLoS One. 2012;7(10):e46762.
77. Wang I, Khan NW, Branham K, Wissinger B, Kohl S, Heckenlively JR. Establishing baseline rod electroretinogram values in achromatopsia and cone dystrophy. Doc Ophthalmol. 2012 Aug 19. [Epub ahead of print]
78. Kohl S, Coppieters F, Meire F, Schaich S, Roosing S, Brennenstuhl C, Bolz S, van Genderen MM, Riemslag FC; the European Retinal Disease Consortium, Lukowski R, den Hollander AI, Cremers FP, De Baere E, Hoyng CB, Wissinger B. A nonsense mutation in PDE6H causes autosomal recessive incomplete achromatopsia. Am J Hum Genet. 2012 Sep 7;91(3):527-32. Epub 2012 Aug 16.
79. Thomas MG, McLean RJ, Kohl S, Sheth V, Gottlob I. Early signs of longitudinal progressive cone photoreceptor degeneration in achromatopsia. Br J Ophthalmol. 2012 Jul 11
80. Audo I, Bujakowska K, Orhan E, Poloschek CM, Defoort-Dhellemmes S, Drumare I, Kohl S, Luu TD, Lecompte O, Zrenner E, Lancelot ME, Antonio A, Germain A, Michiels C, Audier C, Letexier M, Saraiva JP, Leroy BP, Munier FL, Mohand-Saïd S, Lorenz B, Friedburg C, Preising M, Kellner U, Renner AB, Moskova-Doumanova V, Berger W, Wissinger B, Hamel CP, Schorderet DF, De Baere E, Sharon D, Banin E, Jacobson SG, Bonneau D, Zanlonghi X, Le Meur G, Casteels I, Koenekoop R, Long VW, Meire F, Prescott K, de Ravel T, Simmons I, Nguyen H, Dollfus H, Poch O, Léveillard T, Nguyen-Ba-Charvet K, Sahel JA, Bhattacharya SS, Zeitz C. Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet. 2012 Feb 10;90(2):321-30.
81. Estrada-Cuzcano A, Neveling K, Kohl S, Banin E, Rotenstreich Y, Sharon D, Falik-Zaccai TC, Hipp S, Roepman R, Wissinger B, Letteboer SJ, Mans DA, Blokland EA, Kwint MP, Gijsen SJ, van Huet RA, Collin RW, Scheffer H, Veltman JA, Zrenner E; the European Retinal Disease Consortium, den Hollander AI, Klevering BJ, Cremers FP. Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement. Am J Hum Genet. 2012 Jan 13;90(1):102-109. Epub 2011 Dec 15.
82. Kohl S, Kitiratschky V, Papke M, Schaich S, Sauer A, Wissinger B. Genes and Mutations in Autosomal Dominant Cone and Cone-Rod Dystrophy. Adv Exp Med Biol. 2012;723:337-43.
83. Ozgül RK, Siemiatkowska AM, Yücel D, Myers CA, Collin RW, Zonneveld MN, Beryozkin A, Banin E, Hoyng CB, van den Born LI; The European Retinal Disease Consortium, Bose R, Shen W, Sharon D, Cremers FP, Klevering BJ, den Hollander AI, Corbo JC. Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa. Am J Hum Genet. 2011 Aug 12;89(2):253-264. As member of the ERDC.
84. Friedburg C, Wissinger B, Schambeck M, Bonin M, Kohl S, Lorenz B. Long-term follow up of the human phenotype in 3 siblings with cone dystrophy associated with a homozygous p.G461R mutation of KCNV2. Invest Ophthalmol Vis Sci. 2011 Nov 7;52(12):8621-9. [Epub ahead of print]
85. Wissinger B, Schaich S, Baumann B, Bonin M, Jägle H, Friedburg C, Varsányi B, Hoyng CB, Dollfus H, Heckenlively JR, Rosenberg T, Rudolph G, Kellner U, Salati R, Plomp A, De Baere E, Andrassi-Darida M, Sauer A, Wolf C, Zobor D, Bernd A, Leroy BP, Enyedi P, Cremers FP, Lorenz B, Zrenner E, Kohl S. Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response. Hum Mutat. 2011 Dec ; 32(12): 1398-406. Epub 2011 Sep 12.
86. Zobor D, Kaufmann DH, Weckerle P, Sauer A, Wissinger B, Wilhelm H, Kohl S. Cone-rod dystrophy associated with amelogenesis imperfecta in a child with neurofibromatosis type 1. Ophthalmic Genet. 2012 Mar;33(1):34-8. doi: 10.3109/13816810.2011.592178. Epub 2011 Jul 5.
87. Lam K, Guo H, Wilson GA, Kohl S, Wong F. Identification of variants in CNGA3 as cause for achromatopsia by exome sequencing of a single patient. Arch Ophthalmol, Sep 2011; 129: 1212 - 1217.
88. Kitiratschky VB, Glöckner CJ, Kohl S. Mutation Screening of the GUCA1B Gene in Patients With Autosomal Dominant Cone and Cone Rod Dystrophy. Ophthalmic Genet. 2011 Sep; 32(3):151-5. Epub 2011 Mar 15.
89. Thomas MG, Kumar A, Kohl S, Proudlock FA, Gottlob I. High-Resolution In Vivo Imaging in Achromatopsia. Ophthalmology. 2011 May;118(5):882-7. Epub 2011 Jan 6.
90. Grau T, Artemyev NO, Rosenberg T, Dollfus H, Haugen OH, Sener EC, Jurklies B, Andreasson S, Kernstock C, Larsen M, Zrenner E, Wissinger B, Kohl S. Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia. Hum Mol Genet. 2011 Feb 15;20(4):719-30. Epub 2010 Dec 1.
91. Kohl S, Hamel CP. Clinical utility gene card for: Achromatopsia. Eur J Hum Genet. 2011 Jan 26. doi: 10.1038/ejhg.2010.231.
92. Kohl S, Hamel CP. Clinical utility gene card for: Blue cone monochromatism. Eur J Hum Genet. 2011 Jan 26. doi: 10.1038/ejhg.2010.232.
93. Estrada-Cuzcano A, Koenekoop RK, Coppieters F, Kohl S, Lopez I, Collin RW, De Baere E, Roeleveld D, Marek J, Bernd A, Rohrschneider K, van den Born LI, Meire F, Maumenee IH, Jacobson SG, Hoyng CB, Zrenner E, Cremers FP, den Hollander AI. IQCB1 mutations in patients with Leber congenital amaurosis. Invest Ophthalmol Vis Sci. 2011 Feb 11;52(2):834-9. Print 2011 Feb.
94. Köhn L, Kohl S, Bowne SJ, Sullivan LS, Kellner U, Daiger SP, Sandgren O, Golovleva I. PITPNM3 is an uncommon cause of cone and cone-rod dystrophies. Ophthalmic Genet. 2010 Sep; 31(3): 139-40. [Epub ahead of print]
95. Zelinger L, Greenberg A, Kohl S, Banin E, Sharon D. An ancient autosomal haplotype bearing a rare achromatopsia-causing founder mutation is shared among Arab Muslims and Oriental Jews. Hum Genet. 2010 Jun 13. Hum Genet. 2010 Sep;128(3):261-7. Epub 2010 Jun 13.
96. Koeppen K, Reuter P, Ladewig T, Kohl S, Baumann B, G Jacobson S, Plomp AS, Hamel CP, Janecke AR, Wissinger B. Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channel. Hum Mutat. 2010 Jul; 31(7): 830-9.
97. Audo I, Kohl S, Leroy BP, Munier FL, Guillonneau X, Mohand-Saïd S, Bujakowska K, Nandrot EF, Lorenz B, Preising M, Kellner U, Renner AB, Bernd A, Antonio A, Moskova-Doumanova V, Lancelot ME, Poloschek CM, Drumare I, Defoort-Dhellemmes S, Wissinger B, Léveillard T, Hamel CP, Schorderet DF, De Baere E, Berger W, Jacobson SG, Zrenner E, Sahel JA, Bhattacharya SS, Zeitz C. TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet. 2009 Nov;85(5):720-9. Epub 2009 Nov 5.
98. Andersen MK, Christoffersen NL, Sander B, Edmund C, Larsen M, Grau T, Wissinger B, Kohl S, Rosenberg T. Oligocone trichromacy: clinical and molecular genetic investigations. Invest Ophthalmol Vis Sci. 2010 Jan;51(1):89-95. Epub 2009 Sep 24.
99. Chang B, Grau T, Dangel S, Hurd R, Jurklies B, Sener EC, Andreasson S, Dollfus H, Baumann B, Bolz S, Artemyev N, Kohl S, Heckenlively J, Wissinger B. A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene. Proc Natl Acad Sci U S A. 2009 Nov 17;106(46):19581-6. Epub 2009 Nov 3.
100. Zeitz C, Labs S, Lorenz B, Forster U, Ueksti J, Kroes HY, De Baere E, Leroy BP, Cremers FP, Wittmer M, van Genderen MM, Sahel JA, Audo I, Poloschek CM, Mohand-Saïd S, Fleischhauer JC, Hueffmeier U, Moskova-Doumanova V, Levin AV, Hamel CP, Leifert D, Munier FL, Schorderet D, Zrenner E, Friedburg C, Wissinger B, Kohl S, Berger W. Genotyping microarray for CSNB-associated genes. Invest Ophthalmol Vis Sci. 2009 Dec;50(12):5919-26. Epub 2009 Jul 2.
101. Kitiratschky VB, Behnen P, Kellner U, Heckenlively JR, Zrenner E, Jägle H, Kohl S, Wissinger B, Koch KW. Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase. Hum Mutat. 2009 Aug;30(8):E782-96.
102. Ebermann I, Wiesen MHJ, Zrenner E, Lopez I, Pigeon R, Kohl S, Löwenheim H, Koenekoop RK, Bolz HJ (2008) GPR98 mutations cause Usher Syndrome Type 2 in males: Comparison with the female phenotype. J Med Genet. 2009 Apr;46(4):277-80.
103. Renner AB, Fiebig BS, Weber BFH, Wissinger B, Andreasson S, Gal A, Cropp E, Kohl S, Kellner U. Phenotypic variability and long-term follow-up of patients with known and novel PRPH2 (peripherin/RDS) gene mutations. Am J Ophthalmol. 2009 Mar;147(3):518-530.e1.
104. Kitiratschky VB, Nagy D, Zabel T, Zrenner E, Wissinger B, Kohl S, Jägle H. Cone and cone-rod dystrophy segregating in the same pedigree due to the same novel CRX gene mutation. Br J Ophthalmol. 2008 Aug;92(8):1086-91.
105. Ahuja Y, Kohl S, Traboulsi EI. CNGA3 mutations in two United Arab Emirates families with achromatopsia. Mol Vis. 2008 Jul 10;14:1293-7.
106. Kitiratschky VB, Wilke R, Renner AB, Kellner U, Vadala M, Birch DG, Wissinger B, Zrenner E, Kohl S. Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration. Invest Ophthalmol Vis Sci. 2008 Nov;49(11):5015-23.
107. Reuter P, Koeppen K, Ladewig T, Kohl S, Baumann B, Wissinger B; Achromatopsia Clinical Study Group. Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia. Hum Mutat. 2008 Oct;29(10):1228-36
108. Koeppen K, Reuter P, Kohl S, Baumann B, Ladewig T, Wissinger B. Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3(R427C) and A3(R563C). Eur J Neurosci. 2008 May;27(9):2391-401.
109. Kitiratschky VB, Grau T, Bernd A, Zrenner E, Jägle H, Renner AB, Kellner U, Rudolph G, Jacobson SG, Cideciyan AV, Schaich S, Kohl S, Wissinger B. ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies. Eur J Hum Genet. 2008 Jul;16(7):812-9. Epub 2008 Feb 20.
110. Wissinger B, Dangel S, Jägle H, Hansen L, Baumann B, Rudolph G, Wolf C, Bonin M, Koeppen K, Ladewig T, Kohl S, Zrenner E, Rosenberg T. Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2. Invest Ophthalmol Vis Sci. 2008 Feb;49(2):751-7.
111. Khan NW, Wissinger B, Kohl S, Sieving PA.CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function. Invest Ophthalmol Vis Sci. 2007 Aug;48(8):3864-71.
112. Wycisk KA, Zeitz C, Feil S, Wittmer M, Forster U, Neidhardt J, Wissinger B, Zrenner E, Wilke R, Kohl S, Berger W. Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. Am J Hum Genet. 2006 Nov;79(5):973-7.
113. Zeitz C, Kloeckener-Gruissem B, Forster U, Kohl S, Magyar I, Wissinger B, Matyas G, Borruat FX, Schorderet DF, Zrenner E, Munier FL, Berger W. Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. Am J Hum Genet. 2006 Oct;79(4):657-67.
114. Varsanyi B, Wissinger B, Kohl S, Koeppen K, Farkas A. Clinical and genetic features of Hungarian achromatopsia patients. Mol Vis. 2005 Nov 17;11:996-1001.
115. Kohl S, Varsanyi B, Antunes GA, Baumann B, Hoyng CB, Jagle H, Rosenberg T, Kellner U, Lorenz B, Salati R, Jurklies B, Farkas A, Andreasson S, Weleber RG, Jacobson SG, Rudolph G, Castellan C, Dollfus H, Legius E, Anastasi M, Bitoun P, Lev D, Sieving PA, Munier FL, Zrenner E, Sharpe LT, Cremers FP, Wissinger B. CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet. 2005 Mar;13(3):302-8.
116. Renner AB, Tillack H, Kraus H, Kohl S, Wissinger B, Mohr N, Weber BH, Kellner U, Foerster MH. Morphology and functional characteristics in adult vitelliform macular dystrophy. Retina. 2004 Dec;24(6):929-39.
117. Rosenberg T, Baumann B, Kohl S, Zrenner E, Jorgensen AL, Wissinger B. Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations. Invest Ophthalmol Vis Sci. 2004 Dec;45(12):4256-62.
118. Kellner U, Wissinger B, Kohl S, Kraus H, Foerster MH. [Molecular genetic findings in patients with congenital cone dysfunction. Mutations in the CNGA3, CNGB3, or GNAT2 genes] Ophthalmologe. 2004 Aug;101(8):830-5. German.
119. Kellner U, Wissinger B, Tippmann S, Kohl S, Kraus H, Foerster MH. Blue cone monochromatism: clinical findings in patients with mutations in the red/green opsin gene cluster. Graefes Arch Clin Exp Ophthalmol. 2004 Sep;242(9):729-35.
120. Trankner D*, Jagle H*, Kohl S*, Apfelstedt-Sylla E, Sharpe LT, Kaupp UB, Zrenner E, Seifert R, Wissinger B. Molecular basis of an inherited form of incomplete achromatopsia. J Neurosci. 2004 Jan 7;24(1):138-47. * shared first authorship
121. Eksandh L, Kohl S, Wissinger B. Clinical features of achromatopsia in Swedish patients with defined genotypes. Ophthalmic Genet. 2002 Jun;23(2):109-20.
122. Kohl S, Baumann B, Rosenberg T, Kellner U, Lorenz B, Vadala M, Jacobson SG, Wissinger B. Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Am J Hum Genet. 2002 Aug;71(2):422-5. Epub 2002 Jun 20.
123. Wissinger B, Gamer D, Jagle H, Giorda R, Marx T, Mayer S, Tippmann S, Broghammer M, Jurklies B, Rosenberg T, Jacobson SG, Sener EC, Tatlipinar S, Hoyng CB, Castellan C, Bitoun P, Andreasson S, Rudolph G, Kellner U, Lorenz B, Wolff G, Verellen-Dumoulin C, Schwartz M, Cremers FP, Apfelstedt-Sylla E, Zrenner E, Salati R, Sharpe LT, Kohl S. CNGA3 mutations in hereditary cone photoreceptor disorders. Am J Hum Genet. 2001 Oct;69(4):722-37. Epub 2001 Aug 30.
124. Jägle, H., Kohl, S., Apfelstedt-Sylla, E., Wissinger, B., Sharpe, L.T. (2001). Manifestation of Rod Monochromacy. Col. Res. Appl. Suppl. 26:S96-99.
125. Kohl S, Baumann B, Broghammer M, Jagle H, Sieving P, Kellner U, Spegal R, Anastasi M, Zrenner E, Sharpe LT, Wissinger B. Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. Hum Mol Genet. 2000 Sep 1;9(14):2107-16.
126. Wissinger B, Jagle H, Kohl S, Broghammer M, Baumann B, Hanna DB, Hedels C, Apfelstedt-Sylla E, Randazzo G, Jacobson SG, Zrenner E, Sharpe LT. Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11. Genomics. 1998 Aug 1;51(3):325-31.
127. Kohl S, Marx T, Giddings I, Jagle H, Jacobson SG, Apfelstedt-Sylla E, Zrenner E, Sharpe LT, Wissinger B. Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. Nat Genet. 1998 Jul;19(3):257-9.
128. Kohl S, Christ-Adler M, Apfelstedt-Sylla E, Kellner U, Eckstein A, Zrenner E, Wissinger B. RDS/peripherin gene mutations are frequent causes of central retinal dystrophies. J Med Genet. 1997 Aug;34(8):620-6.

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