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Forschungsinstitut fuer Augenheilkunde
INSTITUTE FOR OPHTHALMIC RESEARCH
FORSCHUNGSINSTITUT FÜR AUGENHEILKUNDE

Susanne Kohl

Coordinator of the RetDis biobank and molecular genetics diagnostics and testings
Group leader, lecturer and associated head, Molecular Genetics Laboratory
 

Business address

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

Phone: +49 (0)7071 29-80702
Fax: +49 (0)7071 29-5725

E-mail: Susanne.Kohl@med.uni-tuebingen.de

Academic Education

05/1996Diploma in Biology, Eberhard-Karls-University, Tübingen, Germany
07/2000Ph.D. (Dr.rer.nat.) in Human Molecular Genetics, Eberhard-Karls-University, Tübingen, thesis project at the Molecular Genetics Laboratory, University Eye Hospital Tuebingen

Postdoctoral Training and Prior Positions

2000-2009PostDoc at the Molecular Genetics Laboratory, University Eye Hospital Tuebingen
Since 2002Coordinator of the RetDis biobank and molecular genetics diagnostics and testings
Since 2009Group leader and associated head, Molecular Genetics Laboratory, Institute of Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Germany

Awards

1999Attempto Award for Advances in Neurobiology

Research interests

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.

Editorship for Scientific Journals & Reviewer Activities

  • 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).

Memberships and Functions in Scientific Societies

  • Association for Research in Vision and Ophthalmology

Publications

  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.
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  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.
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  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.

Reviews

  1. Kohl S, Wissinger B. "Maskun" - Zapfen außer Funktion: Achromatopsie, Prototyp einer erblichen Dystrophie der Zapfenphotorezeptoren. Online 19.09.10,
  2. Poloschek CM, Kohl S. [Achromatopsia.] Ophthalmologe. 2010 Jun;107(6):571-80; quiz 581-2. German.
  3. Kohl S, Jägle H, Sharpe LT, Wissinger B. Achromatopsia. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. 2004 Jun 24 [updated 2009 Jun 25].
  4. Kohl S. [Genetic causes of hereditary cone and cone-rod dystrophies.] Ophthalmologe. 2009 Feb;106(2):109-15. Review. German. Epub 2009 Feb 1.
  5. Wissinger B, Kohl S (2005). Genetische Ursachen des Farbensehens. Biospektrum Nr.1 11. Jahrgang. D13808, ISSN 0947-0867, Elsevier
  6. Kohl, S, Giddings I, Besch D, Apfelstedt-Sylla E, Zrenner E, Wissinger B (1998). The role of the peripherin/RDS gene in retinal dystrophies. Acta anat. 162:75-84.

Monographies and Book chapters

  1. Kohl. S (2010) Achromatopsia – Rod monochromacy. In: Genetic Disease of the Eye. Ed. E. Traboulsi, Oxford University Press.
  2. Kohl S. (2009) Achromatopsia. In: Encyclopedia of Molecular Mechanisms of Disease, ed. Lang, Florian. Springer (ISBN: 978-3-540-67136-7)
  3. Deeb S, Kohl S (2003) Genetics of color vision deficiencies. In: Genetics in Ophthalmology. Developments in Ophthalmology, Vol. 37, ed. W. Behrens-Baumann. Karger, Basel.
  4. Kohl S, Jägle H, Zrenner E, Sharpe LT, Wissinger B (2001) The molecular basis of achromatopsia. In: New insights into retinal degenerative disease. eds. R.E. Anderson, M.M. LaVail, J.G. Hollyfield. Kluwer Academic/Plenum Publishers.