Susanne Kohl

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 25

Top Venues

International journal of molecular sciences

Genes

NPJ genomic medicine

Proceedings of the National Academy of Sciences of the United States of America

University Clinics Tübingen

This page only lists publications with an associated author ORCID identifier.

Affiliation History

University Clinics Tübingen May 01 1995

Germany

PI :: Centre for Ophthalmology

Publications

Bernd Wissinger, Britta Baumann, Elena Buena-Atienza, Caspar Gross, Susanne Kohl
Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects. NPJ genomic medicine 9 (1) (2024)
Bernd Wissinger, Britta Baumann, Elena Buena-Atienza, Caspar Gross, Susanne Kohl
Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects. NPJ genomic medicine 9 (1) (2024)
Bernd Wissinger, Britta Baumann, Elena Buena-Atienza, Caspar Gross, Susanne Kohl
Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects. NPJ genomic medicine 9 (1) (2024)
Mette Kjøbæk Gundestrup Andersen, Mette Bertelsen, Karen Grønskov, Susanne Kohl, Kessel Line
Genetic and Clinical Characterization of Danish Achromatopsia Patients. Genes 14 (3) (2023)
Mette Kjøbæk Gundestrup Andersen, Mette Bertelsen, Karen Grønskov, Susanne Kohl, Kessel Line
Genetic and Clinical Characterization of Danish Achromatopsia Patients. Genes 14 (3) (2023)
Jan-Philipp Bodenbender, Valerio Marino, Leon Bethge, Katarina Stingl, Tobias B Haack, Saskia Biskup, Susanne Kohl, Laura Kuehlewein, Daniele Dell'Orco, Nicole Weisschuh
Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy. International journal of molecular sciences 24 (3) (2023)
Mette Kjøbæk Gundestrup Andersen, Mette Bertelsen, Karen Grønskov, Susanne Kohl, Kessel Line
Genetic and Clinical Characterization of Danish Achromatopsia Patients. Genes 14 (3) (2023)
Jan-Philipp Bodenbender, Valerio Marino, Leon Bethge, Katarina Stingl, Tobias B Haack, Saskia Biskup, Susanne Kohl, Laura Kuehlewein, Daniele Dell'Orco, Nicole Weisschuh
Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy. International journal of molecular sciences 24 (3) (2023)
Ditta Zobor, Britta Brühwiler, Eberhart Zrenner, Nicole Weisschuh, Susanne Kohl
Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort. International journal of molecular sciences 24 (10) (2023)
Jan-Philipp Bodenbender, Valerio Marino, Leon Bethge, Katarina Stingl, Tobias B Haack, Saskia Biskup, Susanne Kohl, Laura Kuehlewein, Daniele Dell'Orco, Nicole Weisschuh
Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy. International journal of molecular sciences 24 (3) (2023)
Katarina Stingl, Britta Baumann, Pietro De Angeli, Ajoy Vincent, Elise Héon, Monique Cordonnier, Elfriede De Baere, Salmo Raskin, Mario Teruo Sato, Naoye Shiokawa, Susanne Kohl, Bernd Wissinger
Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction. International journal of molecular sciences 23 (12) (2022)
Fadi Nasser, Susanne Kohl, Anne Kurtenbach, Melanie Kempf, Saskia Biskup, Theresia Zuleger, Tobias B Haack, Nicole Weisschuh, Katarina Stingl, Eberhart Zrenner
Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort. Genes 13 (7) (2022)
Neringa Jurkute, Francesca Cancellieri, Lisa Pohl, Catherina H Z Li, Robert A Heaton, Janine Reurink, James Bellingham, Mathieu Quinodoz, Georgia Yioti, Maria Stefaniotou, Marianna E Weener, Theresia Zuleger, Tobias B Haack, Katarina Stingl, null null, Carel B Hoyng, Omar A Mahroo, Iain Hargreaves, F Lucy Raymond, Michel Michaelides, Carlo Rivolta, Susanne Kohl, Susanne Roosing, Andrew R Webster, Gavin Arno
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype. NPJ genomic medicine 7 (1) (2022)
Maria Solaki, Britta Baumann, Peggy Reuter, Sten Andreasson, Isabelle Audo, Carmen Ayuso, Ghassan Balousha, Francesco Benedicenti, David Geoffrey Birch, Pierre Bitoun, Delphine Blain, Beatrice Bocquet, Kari Branham, Jaume Catala, Elfride De Baere, Helene Dollfus, Mohammed Falana, Roberto Giorda, Irina Golovleva, Irene Gottlob, John R Heckenlively, Samuel G Jacobson, Kaylie D Jones, Herbert Jägle, Andreas R Janecke, Ulrich Kellner, Petra Liskova, Birgit Lorenz, Loreto Martorell, André M Vieira Messias, Isabelle Meunier, Fernanda Belga Ottoni Porto, Eleni Papageorgiou, Astrid S Plomp, Thomy J L de Ravel, Charlotte M Reiff, Agnes B Renner, Thomas Rosenberg, Günther Rudolph, Roberto Salati, E Cumhur Sener, Paul A Sieving, Franco Stanzial, Elias I Traboulsi, Stephen H Tsang, Balázs Varsanyi, Richard G Weleber, Ditta Zobor, Katarina Stingl, Bernd Wissinger, Susanne Kohl
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia. Human mutation 43 (7) (2022)
Bernd Wissinger, Britta Baumann, Elena Buena-Atienza, Zeinab Ravesh, Artur V Cideciyan, Katarina Stingl, Isabelle Audo, Isabelle Meunier, Béatrice Bocquet, Elias I Traboulsi, Alison J Hardcastle, Jessica C Gardner, Michel Michaelides, Kari E Branham, Thomas Rosenberg, Sten Andreasson, Hélène Dollfus, David Birch, Andrea L Vincent, Loreto Martorell, Jaume Catala, Ulrich Kellner, Klaus Rüther, Birgit Lorenz, Markus N Preising, Emanuela Manfredini, Yuri A Zarate, Raymon Vijzelaar, Eberhart Zrenner, Samuel G Jacobson, Susanne Kohl
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy. Proceedings of the National Academy of Sciences of the United States of America 119 (27) (2022)
Giulia Righetti, Melanie Kempf, Christoph Braun, Ronja Jung, Susanne Kohl, Bernd Wissinger, Eberhart Zrenner, Katarina Stingl, Krunoslav Stingl
Oscillatory Potentials in Achromatopsia as a Tool for Understanding Cone Retinal Functions. International journal of molecular sciences 22 (23) (2021)
Friederike Charlotte Kortüm, Sinja Kieninger, Pascale Mazzola, Susanne Kohl, Bernd Wissinger, Holger Prokisch, Katarina Stingl, Nicole Weisschuh
X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in RPGR. International journal of molecular sciences 22 (2) (2021)
Susanne Kohl, Britta Baumann, Francesca Dassie, Anja K Mayer, Maria Solaki, Peggy Reuter, Laura Kühlewein, Bernd Wissinger, Pietro Maffei
Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with CNGA3-Associated Autosomal Recessive Achromatopsia. International journal of molecular sciences 22 (15) (2021)
Laura Kuehlewein, Ditta Zobor, Katarina Stingl, Melanie Kempf, Fadi Nasser, Antje Bernd, Saskia Biskup, Frans P M Cremers, Muhammad Imran Khan, Pascale Mazzola, Karin Schäferhoff, Tilman Heinrich, Tobias B Haack, Bernd Wissinger, Eberhart Zrenner, Nicole Weisschuh, Susanne Kohl
Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa. International journal of molecular sciences 22 (5) (2021)
Manuel Spitschan, Corrado Garbazza, Susanne Kohl, Christian Cajochen
Sleep and circadian phenotype in people without cone-mediated vision: a case series of five CNGB3 and two CNGA3 patients. Brain communications 3 (3) (2021)
Nicole Weisschuh, Pascale Mazzola, Miriam Bertrand, Tobias B Haack, Bernd Wissinger, Susanne Kohl, Katarina Stingl
Clinical Characteristics of POC1B-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants. International journal of molecular sciences 22 (10) (2021)
Ananya Samanta, Katarina Stingl, Susanne Kohl, Jessica Ries, Joshua Linnert, Kerstin Nagel-Wolfrum
Ataluren for the Treatment of Usher Syndrome 2A Caused by Nonsense Mutations. International journal of molecular sciences 20 (24) (2019)
Katarina Stingl, Anja K Mayer, Pablo Llavona, Lejla Mulahasanovic, Günther Rudolph, Samuel G Jacobson, Eberhart Zrenner, Susanne Kohl, Bernd Wissinger, Nicole Weisschuh
CDHR1 mutations in retinal dystrophies. Scientific reports 7 (1) (2017)
Anna Skorczyk-Werner, Wei-Chieh Chiang, Anna Wawrocka, Katarzyna Wołyńska, Małgorzata Jarmuż-Szymczak, Magdalena Kostrzewska-Poczekaj, Aleksander Jamsheer, Rafał Płoski, Małgorzata Rydzanicz, Dorota Pojda-Wilczek, Nicole Weisschuh, Bernd Wissinger, Susanne Kohl, Jonathan H Lin, Maciej R Krawczyński
Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene. European journal of human genetics : EJHG 25 (11) (2017)
Pablo Llavona, Michele Pinelli, Margherita Mutarelli, Veer Singh Marwah, Simone Schimpf-Linzenbold, Sebastian Thaler, Efdal Yoeruek, Jan Vetter, Susanne Kohl, Bernd Wissinger
Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases. Genes 8 (10) (2017)

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Publication Activity (10 Years)

Top Topics

Top Venues

Susanne Kohl