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S

Susanne Kohl

University Hospital Tuebingen

57H-index
734Paper Count
1.0WCitation Count
Published Papers 121
Publication Date
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De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa
errNature Genetics
IF29
err2026-01-09
err0
errOAAI
errMathieu Quinodoz; Kim Rodenburg; Zuzana Cvackova; Karolina Kaminska; Suzanne E. de Bruijn; Ana Belén Iglesias-Romero; Erica G. M. Boonen; Mukhtar Ullah; Nick Zomer; Marc Folcher; Jacques Bijon; Lara K. Holtes; Stephen H. Tsang; Zelia Corradi; K. Bailey Freund; Stefanida Shliaga; Daan M. Panneman; Rebekkah J. Hitti-Malin; Manir Ali; Ala’a AlTalbishi; Sten Andréasson; Georg Ansari; Gavin Arno; Galuh D. N. Astuti; Carmen Ayuso; Radha Ayyagari; Sandro Banfi; Eyal Banin; Tahsin Stefan Barakat; Mirella T. S. Barboni; Miriam Bauwens; Tamar Ben-Yosef; Virginie Bernard; David G. Birch; Pooja Biswas; Fiona Blanco-Kelly; Beatrice Bocquet; Camiel J. F. Boon; Kari Branham; Dominique Bremond-Gignac; Alexis Ceecee Britten-Jones; Kinga M. Bujakowska; Cyril Burin des Roziers; Elizabeth L. Cadena; Giacomo Calzetti; Francesca Cancellieri; Luca Cattaneo; Naomi Chadderton; Peter Charbel Issa; Luísa Coutinho-Santos; Stephen P. Daiger; Elfride De Baere; Marieke De Bruyne; Berta de la Cerda; John N. De Roach; Julie De Zaeytijd; Ronny Derks; Claire-Marie Dhaenens; Lubica Dudakova; Jacque L. Duncan; G. Jane Farrar; Nicolas Feltgen; Beau J. Fenner; Lidia Fernández-Caballero; Juliana M. Ferraz Sallum; Simone Gana; Alejandro Garanto; Jessica C. Gardner; Christian Gilissen; Roser Gonzàlez-Duarte; Kensuke Goto; Sam Griffiths-Jones; Tobias B. Haack; Lonneke Haer-Wigman; Alison J. Hardcastle; Takaaki Hayashi; Elise Héon; Lies H. Hoefsloot; Alexander Hoischen; Josephine P. Holtan; Carel B. Hoyng; Manuel Benjamin B. Ibanez; Chris F. Inglehearn; Takeshi Iwata; Brynjar O. Jensson; Kaylie Jones; Vasiliki Kalatzis; Smaragda Kamakari; Marianthi Karali; Ulrich Kellner; Caroline C. W. Klaver; Krisztina Knézy; Robert K. Koenekoop; Susanne Kohl; Taro Kominami; Laura Kühlewein; Tina M. Lamey; Rina Leibu; Bart P. Leroy; Petra Liskova; Irma Lopez; Victor R. de J. López-Rodríguez; Quinten Mahieu; Omar A. Mahroo; Gaël Manes; Luke Mansard; M. Pilar Martín-Gutiérrez; Nelson Martins; Laura Mauring; Martin McKibbin; Terri L. McLaren; Isabelle Meunier; Michel Michaelides; José M. Millán; Kei Mizobuchi; Rajarshi Mukherjee; Zoltán Zsolt Nagy; Kornelia Neveling; Monika Ołdak; Michiel Oorsprong; Yang Pan; Anastasia Papachristou; Antonio Percesepe; Maximilian Pfau; Eric A. Pierce; Emily Place; Raj Ramesar; Francis Ramond; Florence Andrée Rasquin; Gillian I. Rice; Lisa Roberts; María Rodríguez-Hidalgo; Javier Ruiz-Ederra; Ataf H. Sabir; Ai Fujita Sajiki; Ana Isabel Sánchez-Barbero; Asodu Sandeep Sarma; Riccardo Sangermano; Cristina M. Santos; Margherita Scarpato; Hendrik P. N. Scholl; Dror Sharon; Sabrina G. Signorini; Francesca Simonelli; Ana Berta Sousa; Maria Stefaniotou; Kari Stefansson; Katarina Stingl; Akiko Suga; Patrick Sulem; Lori S. Sullivan; Viktória Szabó; Jacek P. Szaflik; Gita Taurina; Alberta A. H. J. Thiadens; Carmel Toomes; Viet H. Tran; Miltiadis K. Tsilimbaris; Pavlina Tsoka; Veronika Vaclavik; Marie Vajter; Sandra Valeina; Enza Maria Valente; Casey Valentine; Rebeca Valero; Sophie Valleix; Joseph van Aerschot; L. Ingeborgh van den Born; Mattias Van Heetvelde; Virginie J. M. Verhoeven; Andrea L. Vincent; Andrew R. Webster; Laura Whelan; Bernd Wissinger; Georgia G. Yioti; Kazutoshi Yoshitake; Juan C. Zenteno; Roberta Zeuli; Theresia Zuleger; Chaim Landau; Allan I. Jacob; Siying Lin; Frans P. M. Cremers; Winston Lee; Jamie M. Ellingford; David Stanek; Susanne Roosing; Carlo Rivolta
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errSave
Single-guide RNA Cas9 and enhanced-deletion Cas9 rescue a recurrent USH2A-related splicing defect
errMOLECULAR THERAPY NUCLEIC ACIDS
IF6.1
err2025-06-01
err0
errOAAI
errDe Angeli, Pietro; Spaag, Salome; Shliaga, Stefanida; Flores-Tufino, Arturo; Ritter, Malte; Nasri, Masoud; Stingl, Katarina; Kuehlewein, Laura; Wissinger, Bernd; Kohl, Susanne
errShare
errSave
Comprehensive functional splicing analysis of non-canonical CNGB3 variants using in vitro minigene splice assays
errJOURNAL OF PATHOLOGY
IF5.2
err2025-04-30
err0
errOAAI
errKatharina Rawnsley; Nicole Weisschuh; Susanne Kohl; Peggy Reuter
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errSave
Variants in CFAP410 cause a range of retinal and skeletal phenotypes
errNPJ GENOMIC MEDICINE
IF4.8
err2025-04-17
err0
errOAAI
errSchmidt, Ryan E.; Pohodich, Amy E.; Birch, David; Jones, Kaylie; Lam, Byron L.; Jung, Emily H.; Jain, Nieraj; Georgiou, Michalis; Mahroo, Omar A.; Webster, Andrew R.; Michaelides, Michel; Bakall, Benjamin; Iannaccone, Alessandro; Vincent, Ajoy; Parameswarappa, Deepika C.; Heon, Elise; Scholl, Hendrik P. N.; Janeschitz-Kriegl, Lucas; Traboulsi, Elias I.; Zein, Wadih; Brooks, Brian P.; Cukras, Catherine; Hufnagel, Robert; Aleman, Tomas S.; Sylla, Mohamed M.; Tsang, Stephen H.; Alabek, Michelle; Sahel, Jose; Gorin, Michael B.; van Genderen, Maria M.; Stingl, Katarina; Reith, Milda; Kohl, Susanne; Amaral, Rebeca Azevedo Souza; Sallum, Juliana Maria Ferraz; Vincent, Andrea L.; Hull, Sarah; Duncan, Jacque L.; Hanson, James V. M.; Tedeus, Matthias; Maggi, Jordi; Graf, Urs; Koller, Samuel; Berger, Wolfgang; Gerth-Kahlert, Christina; Marra, Molly; Everett, Lesley A.; Yang, Paul; Pennesi, Mark E.
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errSave
Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal Dystrophies
errINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
IF4.7
err2025-02-21
err1
errOAAI
errMoekotte, Lude; Boer, Joke H. de; Hiddingh, Sanne; de Ligt, Aafke; Nguyen, Xuan-Thanh-An; Hoyng, Carel B.; Inglehearn, Chris F.; Mckibbin, Martin; Lamey, Tina M.; Thompson, Jennifer A.; Chen, Fred K.; Mclaren, Terri L.; Altalbishi, Alaa; Panneman, Daan M.; Boonen, Erica G. M.; Banfi, Sandro; Bocquet, Beatrice; Meunier, Isabelle; De Baere, Elfride; Koenekoop, Robert; Oldak, Monika; Rivolta, Carlo; Roberts, Lisa; Ramesar, Raj; Strupaite-Sileikiene, Rasa; Kohl, Susanne; Farrar, G. Jane; van Vugt, Marion; van Setten, Jessica; Roosing, Susanne; van den Born, L. Ingeborgh; Boon, Camiel J. F.; Genderen, Maria M. van; Kuiper, Jonas J. W.
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Clinical and Genetic Findings in a Cohort of Patients with PRPF31-Associated Retinal Dystrophy
errAMERICAN JOURNAL OF OPHTHALMOLOGY
IF4.2
err2024-11-01
err1
errOAAI
errBodenbender, Jan-Philipp; Bethge, Leon; Stingl, Katarina; Mazzola, Pascale; Haack, Tobias; Biskup, Saskia; Wissinger, Bernd; Weisschuh, Nicole; Kohl, Susanne; Kuehlewein, Laura
errShare
errSave
Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study
errBRITISH JOURNAL OF OPHTHALMOLOGY
IF3.5
err2024-07-30
err2
PREAI
errIgelman, Austin D.; White, Elizabeth; Tayyib, Alaa; Everett, Lesley; Vincent, Ajoy; Heon, Elise; Zeitz, Christina; Michaelides, Michel; Mahroo, Omar A.; Katta, Mohamed; Webster, Andrew; Preising, Markus; Lorenz, Birgit; Khateb, Samer; Banin, Eyal; Sharon, Dror; Luski, Shahar; Van Den Broeck, Filip; Leroy, Bart Peter; De Baere, Elfride; Walraedt, Sophie; Stingl, Katarina; Kuehlewein, Laura; Kohl, Susanne; Reith, Milda; Fulton, Anne; Raghuram, Aparna; Meunier, Isabelle; Dollfus, Helene; Aleman, Tomas S.; Bedoukian, Emma C.; O'Neil, Erin C.; Krauss, Emily; Vincent, Andrea; Jordan, Charlotte; Iannaccone, Alessandro; Sen, Parveen; Sundaramurthy, Srilekha; Nagasamy, Soumittra; Balikova, Irina; Casteels, Ingele; Borooah, Shyamanga; Yassin, Shaden; Nagiel, Aaron; Schwartz, Hillary; Zanlonghi, Xavier; Gottlob, Irene; Mclean, Rebecca J.; Munier, Francis L.; Stephenson, Andrew; Sisk, Robert; Koenekoop, Robert; Wilson, Lorri B.; Fredrick, Douglas; Choi, Dongseok; Yang, Paul; Pennesi, Mark Edward
errShare
errSave
Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes
errSCIENTIFIC REPORTS
IF3.9
err2024-05-08
err1
errOAAI
errBodenbender, Jan-Philipp; Marino, Valerio; Philipp, Julia; Tropitzsch, Anke; Kernstock, Christoph; Stingl, Katarina; Kempf, Melanie; Haack, Tobias B.; Zuleger, Theresia; Mazzola, Pascale; Kohl, Susanne; Weisschuh, Nicole; Dell'Orco, Daniele; Kuehlewein, Laura
errShare
errSave
Splicing defects and CRISPR-Cas9 correction in isogenic homozygous photoreceptor precursors harboring clustered deep-intronic ABCA4 variants
errMOLECULAR THERAPY NUCLEIC ACIDS
IF6.1
err2024-03-01
err2
errOAAI
errDe Angeli, Pietro; Flores-Tufino, Arturo; Stingl, Katarina; Kuehlewein, Laura; Roschi, Eleonora; Wissinger, Bernd; Kohl, Susanne
errShare
errSave
Functional evaluation allows ACMG/AMP-based re-classification of CNGA3 variants associated with achromatopsia
errGENETICS IN MEDICINE
IF6.2
err2023-12-01
err0
errOAAI
errSolaki, Maria; Wissinger, Bernd; Kohl, Susanne; Reuter, Peggy
errShare
errSave
KCNV2-associated retinopathy: genotype-phenotype correlations-KCNV2 study group report 3
errBRITISH JOURNAL OF OPHTHALMOLOGY
IF3.5
err2023-10-18
err1
errOAAI
errde Guimaraes, Thales A. C.; Georgiou, Michalis; Robson, Anthony G.; Fujinami, Kaoru; Vincent, Ajoy; Nasser, Fadi; Khateb, Samer; Mahroo, Omar A.; Pontikos, Nikolas; Vargas, Mauricio E.; Thiadens, Alberta A. H. J.; de Carvalho, Emanuel R.; Nguyen, Xuan-Than-An; Arno, Gavin; Fujinami-Yokokawa, Yu; Liu, Xiao; Tsunoda, Kazushige; Hayashi, Takaaki; Jimenez-Rolando, Belen; Martin-Merida, Maria Inmaculada; Avila-Fernandez, Almudena; Salas, Ester Carreno; Garcia-Sandoval, Blanca; Ayuso, Carmen; Sharon, Dror; Kohl, Susanne; Huckfeldt, Rachel M.; Banin, Eyal; Pennesi, Mark E.; Khan, Arif O.; Wissinger, Bernd; Webster, Andrew R.; Heon, Elise; Boon, Camiel J. F.; Zrenner, Eberhard; Michaelides, Michel
errShare
errSave
Achromatopsia-Visual Cortex Stability and Plasticity in the Absence of Functional Cones
errINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
IF4.7
err2023-10-17
err3
errOAAI
errMolz, Barbara; Herbik, Anne; Baseler, Heidi A.; de Best, Peter; Raz, Noa; Gouws, Andre; Ahmadi, Khazar; Lowndes, Rebecca; Mclean, Rebecca J.; Gottlob, Irene; Kohl, Susanne; Choritz, Lars; Maguire, John; Kanowski, Martin; Kaesmann-Kellner, Barbara; Wieland, Ilse; Banin, Eyal; Levin, Netta; Morland, Antony B.; Hoffmann, Michael B.
errShare
errSave
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2023-09-21
err31
errOAAI
errWeisschuh, Nicole; Mazzola, Pascale; Zuleger, Theresia; Schaeferhoff, Karin; Kuehlewein, Laura; Kortuem, Friederike; Witt, Dennis; Liebmann, Alexandra; Falb, Ruth; Pohl, Lisa; Reith, Milda; Stuehn, Lara G.; Bertrand, Miriam; Mueller, Amelie; Casadei, Nicolas; Kelemen, Olga; Kelbsch, Carina; Kernstock, Christoph; Richter, Paul; Sadler, Francoise; Demidov, German; Schuetz, Leon; Admard, Jakob; Sturm, Marc; Grasshoff, Ute; Tonagel, Felix; Heinrich, Tilman; Nasser, Fadi; Wissinger, Bernd; Ossowski, Stephan; Kohl, Susanne; Riess, Olaf; Stingl, Katarina; Haack, Tobias B.
errShare
errSave
Rod and Cone Function Measured Objectively by Chromatic Pupil Campimetry Show a Different Preservation Between Distinct Genotypes in Retinitis Pigmentosa
errINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
IF4.7
err2023-08-14
err2
errOAAI
errKelbsch, Carina; Kempf, Melanie; Jung, Ronja; Kortuem, Friederike; Reith, Milda; Kuehlewein, Laura; Kohl, Susanne; Strasser, Torsten; Peters, Tobias; Wilhelm, Helmut; Wilhelm, Barbara; Stingl, Krunoslav; Stingl, Katarina
errShare
errSave
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction
errHUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
err2023-04-01
err14
errOAAI
errReurink, Janine; Weisschuh, Nicole; Garanto, Alejandro; Dockery, Adrian; van den Born, L. Ingeborgh; Fajardy, Isabelle; Haer-Wigman, Lonneke; Kohl, Susanne; Wissinger, Bernd; Farrar, G. Jane; Ben-Yosef, Tamar; Pfiffner, Fatma Kivrak; Berger, Wolfgang; Weener, Marianna E.; Dudakova, Lubica; Liskova, Petra; Sharon, Dror; Salameh, Manar; Offenheim, Ashley; Heon, Elise; Girotto, Giorgia; Gasparini, Paolo; Morgan, Anna; Bergen, Arthur A.; ten Brink, Jacoline B.; Klaver, Caroline C. W.; Tranebjaerg, Lisbeth; Rendtorff, Nanna D.; Vermeer, Sascha; Smits, Jeroen J.; Pennings, Ronald J. E.; Aben, Marco; Oostrik, Jaap; Astuti, Galuh D. N.; Galbany, Jordi Corominas; Kroes, Hester Y.; Phan, Milan; Zelst-Stams, Wendy A. G. van; Thiadens, Alberta A. H. J.; Verheij, Joke B. G. M.; Schooneveld, Mary J. van; Bruijn, Suzanne E. de; Li, Catherina H. Z.; Hoyng, Carel B.; Gilissen, Christian; Vissers, Lisenka E. L. M.; Cremers, Frans P. M.; Kremer, Hannie; van Wijk, Erwin; Roosing, Susanne
errShare
errSave
Systematic analysis of CNGA3 splice variants identifies different mechanisms of aberrant splicing
errSCIENTIFIC REPORTS
IF3.9
err2023-02-18
err5
errOAAI
errReuter, Peggy; Walter, Magdalena; Kohl, Susanne; Weisschuh, Nicole
errShare
errSave
Frequency-dependent retinal responsiveness to sinusoidal electrical stimulation in achromatopsia
errEXPERIMENTAL EYE RESEARCH
IF2.7
err2023-01-01
err2
errOAAI
errJung, Ronja; Kempf, Melanie; Pohl, Lisa; Kortuem, Friederike; Reith, Milda; Kelbsch, Carina; Kohl, Susanne; Wilhelm, Helmut; Wilhelm, Barbara; Stingl, Katarina; Stingl, Krunoslav
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errSave
Therapy with voretigene neparvovec. How to measure success?
errPROGRESS IN RETINAL AND EYE RESEARCH
IF14.7
err2023-01-01
err18
errOAAI
errStingl, Krunoslav; Kempf, Melanie; Jung, Ronja; Kortuem, Friederike; Righetti, Giulia; Reith, Milda; Dimopoulos, Spyridon; Ott, Saskia; Kohl, Susanne; Stingl, Katarina
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errSave
Effective splicing restoration of a deep-intronic ABCA4 variant in cone photoreceptor precursor cells by CRISPR/SpCas9 approaches
errMOLECULAR THERAPY-NUCLEIC ACIDS
IF0
err2022-09-01
err9
errOAAI
errDe Angeli, Pietro; Reuter, Peggy; Hauser, Stefan; Schoels, Ludger; Stingl, Katarina; Wissinger, Bernd; Kohl, Susanne
errShare
errSave
Expression and subcellular localization of USH1C/harmonin in human retina provides insights into pathomechanisms and therapy
errHUMAN MOLECULAR GENETICS
IF3.2
err2022-08-23
err5
errOAAI
errNagel-Wolfrum, Kerstin; Fadl, Benjamin R.; Becker, Mirjana M.; Wunderlich, Kirsten A.; Schaefer, Jessica; Sturm, Daniel; Fritze, Jacques; Guer, Burcu; Kaplan, Lew; Andreani, Tommaso; Goldmann, Tobias; Brooks, Matthew; Starostik, Margaret R.; Lokhande, Anagha; Apel, Melissa; Fath, Karl R.; Stingl, Katarina; Kohl, Susanne; DeAngelis, Margaret M.; Schlotzer-Schrehardt, Ursula; Kim, Ivana K.; Owen, Leah A.; Vetter, Jan M.; Pfeiffer, Norbert; Andrade-Navarro, Miguel A.; Grosche, Antje; Swaroop, Anand; Wolfrum, Uwe
errShare
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Research Directions

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Co-authors
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