Susanne Kohl

Overview

Best Publications

• Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.

  Susanne Kohl;Tim Marx;Ian Giddings;Herbert Jägle

  402
  Citations

• CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders

  Bernd Wissinger;Daphne Gamer;Herbert Jägle;Roberto Giorda

  355
  Citations

• Mutations in the CNGB3 gene encoding the β-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21

  Susanne Kohl;Britta Baumann;Martina Broghammer;Herbert Jägle

  294
  Citations

• Mutations in the Cone Photoreceptor G-Protein α-Subunit Gene GNAT2 in Patients with Achromatopsia

  Susanne Kohl;Britta Baumann;Thomas Rosenberg;Ulrich Kellner

  293
  Citations

• Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies

  Nicola Glöckle;Susanne Kohl;Julia Mohr;Tim Scheurenbrand

  279
  Citations

• TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness

  Isabelle Audo;Susanne Kohl;Bart P. Leroy;Francis L. Munier

  270
  Citations

• CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

  Susanne Kohl;Balazs Varsanyi;Balazs Varsanyi;Gesine Abadin Antunes;Britta Baumann

  268
  Citations

• Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness.

  Christina Zeitz;Barbara Kloeckener-Gruissem;Ursula Forster;Susanne Kohl

  232
  Citations

• Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

  Susanne Kohl;Ditta Zobor;Wei-Chieh Chiang;Nicole Weisschuh

  217
  Citations

• A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene

  Bo Chang;Tanja Grau;Susann Dangel;Ron Hurd

  205
  Citations

• Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy.

  Katharina Agnes Wycisk;Christina Zeitz;Silke Feil;Mariana Wittmer

  183
  Citations

• A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia

  Susanne S. Kohl;Frauke Coppieters;Françoise Meire;Simone S. Schaich

  176
  Citations

• ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

  Miriam Bauwens;Alejandro Garanto;Riccardo Sangermano;Sarah Naessens

  163
  Citations

• Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

  Isabelle Audo;Kinga Bujakowska;Kinga Bujakowska;Kinga Bujakowska;Elise Orhan;Elise Orhan;Elise Orhan;Charlotte M. Poloschek

  142
  Citations

• Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness

  Christina Zeitz;Christina Zeitz;Christina Zeitz;Samuel G. Jacobson;Christian P. Hamel;Kinga Bujakowska;Kinga Bujakowska;Kinga Bujakowska

  141
  Citations

• High-Resolution In Vivo Imaging in Achromatopsia

  Mervyn G. Thomas;Anil Kumar;Susanne Kohl;Frank A. Proudlock

  139
  Citations

• IQCB1 mutations in patients with leber congenital amaurosis

  Alejandro A. Estrada-Cuzcano;Robert Koenekoop;Frauke Coppieters;Susanne S. Kohl

  132
  Citations

• BBS1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome

  Alejandro Estrada-Cuzcano;Robert K. Koenekoop;Audrey Senechal;Elfride B. W. De Baere

  129
  Citations

• Safety and Vision Outcomes of Subretinal Gene Therapy Targeting Cone Photoreceptors in Achromatopsia: A Nonrandomized Controlled Trial.

  M. Dominik Fischer;Stylianos Michalakis;Stylianos Michalakis;Barbara Wilhelm;Ditta Zobor

  129
  Citations

• CNGB3 Achromatopsia with Progressive Loss of Residual Cone Function and Impaired Rod-Mediated Function

  Naheed Wali Khan;Bernd Wissinger;Susanne Kohl;Paul A. Sieving

  123
  Citations