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Olaf Rieß

university of tubingen

83H-index
481Paper Count
3.1WCitation Count
Published Papers 215
Publication Date
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia
err2026-02-14
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errOAAI
errBenita Menden; Rana D. Incebacak Eltemur; German Demidov; Marc Sturm; Joohyun Park; Chrisovalantou Huridou; Florian Fath; Astrid Nümann; Alexander Baumann; Illja J. Diets; Claudia Dufke; Martin Regensburger; Maria Rönnefarth; Vera Wilke; Nienke van Os; Stefan Vielhaber; Tim W. Rattay; Zacharias Kohl; Susana Peralta; Priscila Pereira Sena; Melanie Kellner; Nadine Weissert; Andreas Traschütz; Lena Zeltner; Kai Boelmans; Natalie Deininger; Leon Schütz; Caspar Gross; Ana Beatriz Hinojosa Amaya; Katrin Raupach; Holger Hengel; Florian Harmuth; Jakob Admard; Ingrid Bader; Sarah Baumann; Friedemann Bender; Andrea Bevot; Almut Bischoff; Felix Boschann; Rebecca Buchert; Daniel Buchzik; Nicolas Casadei; Claudia B. Catarino; Isabell Cordts; Kirsten Cremer; Marion Doebler-Neumann; Nadja Ehmke; Miriam Elbracht; Ruth J. Falb; Thomas Feindt; Zofia Fleszar; Lea Gerstner; Dieter Gläser; Ute Grasshoff; Sarah Grosch; Kathrin Grundmann; Alexander Gutschalk; Manja Haaga; Stefanie Hayer; Ute Hehr; Yorck Hellenbroich; Wolfram Henn; Barbara Herr; Rebecca Herzog; Veronka Horber; Jonas Deppe; Nadja Kaiser; Christiane Kehrer; Martin Kehrer; Jan Kern; Christoph Keßler; Katharina Khuller; Hannah Klinkhammer; Urania Kotzaeridou; Peter Krawitz; Martina Kreiss; Hanna Küpper; Alice Kuster; Lucia Laugwitz; Anne Lesemann; Nadine Lichey; Tobias Linden; Boris Macek; Janine Magg; Elisabeth Mangold; Eva Manka; Iris Marquardt; Karl Mehnert; David Mengel; Susanne Morlot; Barbara Oehl-Jaschkowitz; Martje G. Pauly; Melanie Philipp; Florentine Radelfahr; Maren Rautenberg; Angelika Riess; Carsten Saft; Beate Schlotter-Weigel; Axel Schmidt; Eva M. C. Schwaibold; Veronika Spahlinger; Stephanie Spranger; Katharina Marie Steiner; Claudia Stendel; Andreas Thieme; Andreas Tzschach; Ana Velic; Sarah Wiethoff; Carlo Wilke; Stephan Züchner; Simone Zittel; Ralf A. Husain; Marcus Deschauer; Felix Distelmaier; Andreas Dufke; Holm Graessner; Bernhard Hemmer; Heike Jacobi; Thomas Klockgether; Thomas Klopstock; Xenia Kobeleva; Georg-Christoph Korenke; Alma Kuechler; Gregor Kuhlenbäumer; Ingo Kurth; Huu Phuc Nguyen; Gilbert Wunderlich; Kirsten E. Zeuner; Stephan Klebe; Michaela Auer-Grumbach; Michaela Butryn; Jürgen Winkler; Dagmar Timmann; Matthis Synofzik; Bart van de Warrenburg; Rebecca Schüle; Ludger Schöls; Stephan Ossowski; Olaf Riess; Jonasz J. Weber; Tobias B. Haack
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Germany’s national genomDE strategy
err2025-10-15
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PREAI
errAndreas Till; Roman A. Siddiqui; Christian Altbürger; Ronald Schwarz; Tatjana Huebner; Jürgen Wolf; Dorothee Andres; Anika Anker; Stefan Aretz; Tobias B. Haack; Thomas Berlage; Dieter Beule; Melanie Boerries; Ivo Buchhalter; Jens Bussmann; Christoph Engel; Juliane Friedrichs; Stefan Fröhling; Britta Haenisch; Andrea Hahne; Daniel Hübschmann; Friedrich von Kessel; Rudolf Klatt; Simon Kreutzfeldt; Anna Kron; Heiko Krude; Anna Lübbe; Uwe Lührig; Nisar Malek; Christian Mertes; Yvonne Möller; Christine Mundlos; Markus M. Nöthen; Stephan Ossowski; Luca Pötschke; Anna Rasokat; Olaf Riess; Sophia Schade; Peter Schirmacher; Rita Schmutzler; Catharina Scholl; Sebastian C. Semler; Malte Spielmann; Oliver Stegle; Albrecht Stenzinger; Jana Straßburger; Evelin Schröck; Michael Krawczak; Oliver Kohlbacher
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CLINICAL OUTCOME OF BIOMARKER-GUIDED THERAPIES IN ADULT NEURO-ONCOLOGY PATIENTS: AN UPDATE FROM THE TÜBINGEN MOLECULAR TUMOR BOARD COHORT
err2025-10-01
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errOAAI
errRieger, D.; Becker, H.; Walter, B.; Doerner, L.; Kurz, S.; Gani, C.; Neumann, M.; Riess, O.; Schroeder, C.; Ossowski, S.; Fend, F.; Singer, S.; Nahnsen, S.; Ernemann, U.; Sundberg-Malek, H.; Schittenhelm, J.; Bitzer, M.; Malek, N.; Tatagiba, M.; Renovanz, M.; Tabatabai, G.
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Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
err2025-06-24
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errOAAI
errAxel Schmidt; Magdalena Danyel; Kathrin Grundmann; Theresa Brunet; Hannah Klinkhammer; Tzung-Chien Hsieh; Hartmut Engels; Sophia Peters; Alexej Knaus; Shahida Moosa; Luisa Averdunk; Felix Boschann; Henrike Lisa Sczakiel; Sarina Schwartzmann; Martin Atta Mensah; Jean Tori Pantel; Manuel Holtgrewe; Annemarie Bösch; Claudia Weiß; Natalie Weinhold; Aude-Annick Suter; Corinna Stoltenburg; Julia Neugebauer; Tillmann Kallinich; Angela M. Kaindl; Susanne Holzhauer; Christoph Bührer; Philip Bufler; Uwe Kornak; Claus-Eric Ott; Markus Schülke; Hoa Huu Phuc Nguyen; Sabine Hoffjan; Corinna Grasemann; Tobias Rothoeft; Folke Brinkmann; Nora Matar; Sugirthan Sivalingam; Claudia Perne; Elisabeth Mangold; Martina Kreiss; Kirsten Cremer; Regina C. Betz; Martin Mücke; Lorenz Grigull; Thomas Klockgether; Isabel Spier; André Heimbach; Tim Bender; Fabian Brand; Christiane Stieber; Alexandra Marzena Morawiec; Pantelis Karakostas; Valentin S. Schäfer; Sarah Bernsen; Patrick Weydt; Sergio Castro-Gomez; Ahmad Aziz; Marcus Grobe-Einsler; Okka Kimmich; Xenia Kobeleva; Demet Önder; Hellen Lesmann; Sheetal Kumar; Pawel Tacik; Meghna Ahuja Bhasin; Pietro Incardona; Min Ae Lee-Kirsch; Reinhard Berner; Catharina Schuetz; Julia Körholz; Tanita Kretschmer; Nataliya Di Donato; Evelin Schröck; André Heinen; Ulrike Reuner; Amalia-Mihaela Hanßke; Frank J. Kaiser; Eva Manka; Martin Munteanu; Alma Kuechler; Kiewert Cordula; Raphael Hirtz; Elena Schlapakow; Christian Schlein; Jasmin Lisfeld; Christian Kubisch; Theresia Herget; Maja Hempel; Christina Weiler-Normann; Kurt Ullrich; Christoph Schramm; Cornelia Rudolph; Franziska Rillig; Maximilian Groffmann; Ania Muntau; Alexandra Tibelius; Eva M. C. Schwaibold; Christian P. Schaaf; Michal Zawada; Lilian Kaufmann; Katrin Hinderhofer; Pamela M. Okun; Urania Kotzaeridou; Georg F. Hoffmann; Daniela Choukair; Markus Bettendorf; Malte Spielmann; Annekatrin Ripke; Martje Pauly; Alexander Münchau; Katja Lohmann; Irina Hüning; Britta Hanker; Tobias Bäumer; Rebecca Herzog; Yorck Hellenbroich; Dominik S. Westphal; Tim Strom; Reka Kovacs; Korbinian M. Riedhammer; Katharina Mayerhanser; Elisabeth Graf; Melanie Brugger; Julia Hoefele; Konrad Oexle; Nazanin Mirza-Schreiber; Riccardo Berutti; Ulrich Schatz; Martin Krenn; Christine Makowski; Heike Weigand; Sebastian Schröder; Meino Rohlfs; Katharina Vill; Fabian Hauck; Ingo Borggraefe; Wolfgang Müller-Felber; Ingo Kurth; Miriam Elbracht; Cordula Knopp; Matthias Begemann; Florian Kraft; Johannes R. Lemke; Julia Hentschel; Konrad Platzer; Vincent Strehlow; Rami Abou Jamra; Martin Kehrer; German Demidov; Stefanie Beck-Wödl; Holm Graessner; Marc Sturm; Lena Zeltner; Ludger J. Schöls; Janine Magg; Andrea Bevot; Christiane Kehrer; Nadja Kaiser; Ernest Turro; Denise Horn; Annette Grüters-Kieslich; Christoph Klein; Stefan Mundlos; Markus Nöthen; Olaf Riess; Thomas Meitinger; Heiko Krude; Peter M. Krawitz; Tobias Haack; Nadja Ehmke; Matias Wagner
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Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefits
err2025-05-15
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errOAAI
errDennis Witt; Marc Sturm; Antje Stäbler; Benita Menden; Lisa Ruisinger; Kristin Bosse; Ines Gruber; Andreas Hartkopf; Silja Gauß; German Demidov; Nicolas Casadei; Elena Buena Atienza; Kira Mehnert; Janna Witt; Caspar Gross; Leon Schütz; Christopher Schroeder; Stephan Ossowski; Andreas Dufke; Tobias B. Haack; Olaf Riess; Ulrike Faust
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sc-MULTI-omics approach in nano-rare diseases: understanding the pathophysiological mechanism of Mulvihill-Smith Syndrome
err2025-05-09
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errOAAI
errRiess, Angelika; Roggia, Cristiana; Selting, Antje Schulze; Lysenkov, Vladislav; Ossowski, Stephan; Casadei, Nicolas; Riess, Olaf; Singh, Yogesh
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Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy
err2025-02-01
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errOAAI
errBuchert, Rebecca; Burkhalter, Martin D.; Huridou, Chrisovalantou; Sofan, Linda; Roser, Timo; Cremer, Kirsten; Alvi, Javeria Raza; Efthymiou, Stephanie; Froukh, Tawfiq; Gulieva, Sughra; Guliyeva, Ulviyya; Hamdallah, Moath; Holder-Espinasse, Muriel; Kaiyrzhanov, Rauan; Klingler, Doreen; Koko, Mahmoud; Matthies, Lars; Park, Joohyun; Sturm, Marc; Velic, Ana; Spranger, Stephanie; Sultan, Tipu; Engels, Hartmut; Lerche, Holger; Houlden, Henry; Pagnamenta, Alistair T.; Borggraefe, Ingo; Weber, Yvonne; Bonnen, Penelope E.; Maroofian, Reza; Riess, Olaf; Weber, Jonasz J.; Philipp, Melanie; Haack, Tobias B.
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Dynamics of cell-free tumor DNA correlate with early MRI response during chemoradiotherapy in rectal cancer
err2024-11-06
err1
errOAAI
errClasen, Kerstin; Gani, Cihan; Schuetz, Leon; Clasen, Stephan; Ballin, Nadja; Bonzheim, Irina; Orth, Michael; Ossowski, Stephan; Riess, Olaf; Niyazi, Maximilian; Schroeder, Christopher; Kelemen, Olga
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Stratified analyses refine association between TLR7 rare variants and severe COVID-19
err2024-10-01
err3
errOAAI
errBoos, Jannik; van der Made, Caspar I.; Ramakrishnan, Gayatri; Coughlan, Eamon; Asselta, Rosanna; Loscher, Britt-Sabina; Valenti, Luca V. C.; de Cid, Rafael; Bujanda, Luis; Julia, Antonio; Pairo-Castineira, Erola; Baillie, J. Kenneth; May, Sandra; Zametica, Berina; Heggemann, Julia; Albillos, Agustin; Banales, Jesus M.; Barretina, Jordi; Blay, Natalia; Bonfanti, Paolo; Buti, Maria; Fernandez, Javier; Marsal, Sara; Prati, Daniele; Ronzoni, Luisa; Sacchi, Nicoletta; Schultze, Joachim L.; Riess, Olaf; Franke, Andre; Rawlik, Konrad; Ellinghaus, David; Hoischen, Alexander; Schmidt, Axel; Ludwig, Kerstin U.
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The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagy
err2024-08-01
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errOAAI
errWeber, Jonasz J.; Czisch, Leah; Sena, Priscila Pereira; Fath, Florian; Huridou, Chrisovalantou; Schwarz, Natasa; Eltemur, Rana D. Incebacak; Wuerth, Anna; Weishaeupl, Daniel; Doecker, Miriam; Blumenstock, Gunnar; Martins, Sandra; Sequeiros, Jorge; Rouleau, Guy A.; Jardim, Laura Bannach; Saraiva-Pereira, Maria-Luiza; Franca Jr, Marcondes C.; Gordon, Carlos R.; Zaltzman, Roy; Cornejo-Olivas, Mario R.; van de Warrenburg, Bart P. C.; Durr, Alexandra; Brice, Alexis; Bauer, Peter; Klockgether, Thomas; Schoels, Ludger; Riess, Olaf; Schmidt, Thorsten
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Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe)
err2024-06-24
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errOAAI
errEllwanger, Kornelia; Brill, Julie A.; de Boer, Elke; Efthymiou, Stephanie; Elgersma, Ype; Icmat, Marynelle; Lecoquierre, Francois; Lobato, Amanda G.; Morleo, Manuela; Ori, Michela; Schaffer, Ashleigh E.; Vitobello, Antonio; Wells, Sara; Yalcin, Binnaz; Zhai, R. Grace; Sturm, Marc; Zurek, Birte; Graessner, Holm; Bermejo-Sanchez, Eva; Evangelista, Teresinha; Hoogerbrugge, Nicoline; Nigro, Vincenzo; Schuele, Rebecca; Verloes, Alain; Brunner, Han; Campeau, Philippe M.; Lasko, Paul; Riess, Olaf
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Resequencing the complete SNCA locus in Indian patients with Parkinson's disease
err2024-04-15
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errOAAI
errKishore, Asha; Sturm, Marc; Pillai, Kanchana Soman; Hakkaart, Christopher; Puthanveedu, Divya Kalikavil; Urulangodi, Madhusoodanan; Krishnan, Syam; Sreelatha, Ashwin Ashok Kumar; Rajan, Roopa; Pal, Pramod Kumar; Yadav, Ravi; Sarma, Gangadhara; Casadei, Nicolas; Gasser, Thomas; Bauer, Peter; Riess, Olaf; Sharma, Manu
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A Novel PINK1 p.F385S Loss-of-Function Mutation in an Indian Family with Parkinson's Disease
err2024-04-08
err1
errOAAI
errSharma, Karan; Kishore, Asha; Lechado-Terradas, Anna; Passannanti, Raffaele; Raimondi, Francesco; Sturm, Marc; Sreelatha, Ashwin Ashok Kumar; Puthenveedu, Divya Kalikavila; Sarma, Gangadhara; Casadei, Nicolas; Krueger, Rejko; Gasser, Thomas; Kahle, Philipp; Riess, Olaf; Fitzgerald, Julia C.; Sharma, Manu
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Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease
err2024-04-01
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errRaposo, Mafalda; Huebener-Schmid, Jeannette; Tagett, Rebecca; Ferreira, Ana F.; Melo, Ana Rosa Vieira; Vasconcelos, Joao; Pires, Paula; Kay, Teresa; Garcia-Moreno, Hector; Giunti, Paola; Santana, Magda M.; de Almeida, Luis Pereira; Infante, Jon; van de Warrenburg, Bart P.; de Vries, Jeroen J.; Faber, Jennifer; Klockgether, Thomas; Casadei, Nicolas; Admard, Jakob; Schoels, Ludger; Riess, Olaf; Costa, Maria do Carmo; Lima, Manuela
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ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations
errBRAIN
IF11.7
err2024-02-22
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errOAAI
errLaugwitz, Lucia; Cheng, Fubo; Collins, Stephan C.; Hustinx, Alexander; Navarro, Nicolas; Welsch, Simon; Cox, Helen; Hsieh, Tzung-Chien; Vijayananth, Aswinkumar; Buchert, Rebecca; Bender, Benjamin; Efthymiou, Stephanie; Murphy, David; Zafar, Faisal; Rana, Nuzhat; Grasshoff, Ute; Falb, Ruth J.; Grimmel, Mona; Seibt, Annette; Zheng, Wenxu; Ghaedi, Hamid; Thirion, Marie; Couette, Sebastien; Azizimalamiri, Reza; Sadeghian, Saeid; Galehdari, Hamid; Zamani, Mina; Zeighami, Jawaher; Sedaghat, Alireza; Ramshe, Samira Molaei; Zare, Ali; Alipoor, Behnam; Klee, Dirk; Sturm, Marc; Ossowski, Stephan; Houlden, Henry; Riess, Olaf; Wieczorek, Dagmar; Gavin, Ryan; Maroofian, Reza; Krawitz, Peter; Yalcin, Binnaz; Distelmaier, Felix; Haack, Tobias B.
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Augmenting MEK inhibitor efficacy in BRAF wild-type melanoma: synergistic effects of disulfiram combination therapy
err2024-01-23
err2
errOAAI
errMeraz-Torres, Francisco; Niessner, Heike; Ploeger, Sarah; Riel, Simon; Schoerg, Barbara; Casadei, Nicolas; Kneilling, Manfred; Schaller, Martin; Flatz, Lukas; Macek, Boris; Eigentler, Thomas; Riess, Olaf; Garbe, Claus; Amaral, Teresa; Sinnberg, Tobias
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Stage-Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3
err2023-12-05
err8
errOAAI
errFaber, Jennifer; Berger, Moritz; Wilke, Carlo; Hubener-Schmid, Jeannette; Schaprian, Tamara; Santana, Magda M.; Grobe-Einsler, Marcus; Onder, Demet; Koyak, Berkan; Giunti, Paola; Garcia-Moreno, Hector; Gonzalez-Robles, Cristina; Lima, Manuela; Raposo, Mafalda; Melo, Ana Rosa Vieira; de Almeida, Luis Pereira; Silva, Patrick; Pinto, Maria M.; van de Warrenburg, Bart P.; van Gaalen, Judith; de Vries, Jeroen; Oz, Gulin; Joers, James M.; Synofzik, Matthis; Schols, Ludger; Riess, Olaf; Infante, Jon; Manrique, Leire; Timmann, Dagmar; Thieme, Andreas; Jacobi, Heike; Reetz, Kathrin; Dogan, Imis; Onyike, Chiadikaobi; Povazan, Michal; Schmahmann, Jeremy; Ratai, Eva-Maria; Schmid, Matthias; Klockgether, Thomas
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UV-radiation and MC1R germline mutations are risk factors for the development of conventional and spitzoid melanomas in children and adolescents
err2023-10-01
err3
errOAAI
errLiebmann, Alexandra; Admard, Jakob; Armeanu-Ebinger, Sorin; Wild, Hannah; Abele, Michael; Gschwind, Axel; Seibel-Kelemen, Olga; Seitz, Christian; Bonzheim, Irina; Riess, Olaf; Demidov, German; Sturm, Marc; Schadeck, Malou; Pogoda, Michaela; Bien, Ewa; Krawczyk, Malgorzata; Juettner, Eva; Mentzel, Thomas; Cesen, Maja; Pfaff, Elke; Kunc, Michal; Forchhammer, Stephan; Forschner, Andrea; Leiter-Stoeppke, Ulrike; Eigentler, Thomas K.; Schneider, Dominik T.; Eigentler, Thomas K.; Schneider, Dominik T.; Schroeder, Christopher; Ossowski, Stephan; Breht, Ines B.
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Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy (vol 24 , pg 2079 , 2022)
err2023-10-01
err1
errOAAI
errPark, Joohyun; Tucci, Arianna; Cipriani, Valentina; Demidov, German; Rocca, Clarissa; Senderek, Jan; Butryn, Michaela; Velic, Ana; Lam, Tanya; Galanaki, Evangelia; Cali, Elisa; Vestito, Letizia; Maroofian, Reza; Deininger, Natalie; Rautenberg, Maren; Admard, Jakob; Hahn, Gesa-Astrid; Bartels, Claudius; van Os, Nienke J. H.; Horvath, Rita; Chinnery, Patrick F.; Tiet, May Yung; Hewamadduma, Channa; Hadjivassiliou, Marios; Downes, Susan M.; Nemeth, Andrea H.; Wood, Nicholas W.; Hayer, Stefanie N.; Bender, Friedemann; Menden, Benita; Cordts, Isabell; Klein, Katrin; Nguyen, Huu Phuc; Krauss, Joachim K.; Blahak, Christian; Strom, Tim M.; Sturm, Marc; van de Warrenburg, Bart; Lerche, Holger; Macek, Boris; Synofzik, Matthis; Ossowski, Stephan; Timmann, Dagmar; Wolf, Marc E.; Smedley, Damian; Riess, Olaf; Schols, Ludger; Houlden, Henry; Haack, Tobias B.; Hengel, Holger
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Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases
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.
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