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Florian Kraft

RWTH Aachen University

23H-index
98Paper Count
1.7KCitation Count
Published Papers 39
Publication Date
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
err2026-03-30
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errElsa Leitão; Amandine Santini; Benjamin Cogne; Miriam Essid; Maria Athanasiadou; Christy W. LaFlamme; Pierre Marijon; Virginie Bernard; Kevin Jousselin; Nicolas Chatron; Giulia Barcia; Boris Keren; Cyril Mignot; Perrine Charles; Thomas Besnard; Robin Paluch; Jean-Madeleine de Sainte Agathe; Edith P. Almanza Fuerte; Soham Sengupta; Mathieu Milh; Francis Ramond; Talia Allan; Isabelle An; Camila Araujo; Stéphanie Arpin; Christina Austin-Tse; Stéphane Auvin; Sarah Baer; Nadia Bahi-Buisson; Mads Bak; Magalie Barth; Stéphanie Baulac; Nathalie Bednarek-Weirauch; Matthias Begemann; Mark F. Bennett; Uriel Bensabath; Stéphane Bézieau; Rakia Bhouri; Margaux Biehler; Trine Bjørg Hammer; Julie Bogoin; Emilie Bonanno; Simon Boussion; Céline Bris; Adelaide Brosseau-Beauvir; Ange-Line Bruel; Audrey Briand-Suleau; Julien Buratti; Tristan Celse; Pascal Chambon; Nicole Chemaly; Bertrand Chesneau; Estelle Colin; Maxime Colmard; Cindy Colson; Solène Conrad; Thomas Courtin; Isabelle Creveaux; Anne-Charlotte Cullier; Louis T. Dang; Anne de Saint Martin; Caroline de Vanssay de Blavous Legendre; Bénédicte Demeer; Anne-Sophie Denommé-Pichon; Philine Diekhoff; Stephanie DiTroia; Martine Doco-Fenzy; Christèle Dubourg; Charlotte Dubucs; Stéphanie Ducreux; Louis Dufour; Romain Duquet; Benjamin Durand; Salima El Chehadeh; Miriam Elbracht; Laurence Faivre; Marie Faoucher; Anne Faudet; Sylvie Forlani; Mélanie Fradin; Pauline Gaignard; Benjamin Ganne; Aurore Garde; Justine Géraud; Deepak Gill; Alice Goldenberg; David Grabli; Coraline Grisel; Sophie Gueden; Paul Gueguen; Anne-Marie Guerrot; Agnès Guichet; Tobias B. Haack; Nina Härting; Martin Georg Häusler; Solveig Heide; Theresia Herget; Bénédicte Héron; Delphine Héron; Johanna Herwig; Mathilde Heulin; Tess Holling; Clara Houdayer; Bertrand Isidor; Aurélia Jacquette; Louis Januel; Nolwenn Jean-Marçais; Frank J. Kaiser; Sabine Kaya; Chontelle King; Marina Konyukh; Florian Kraft; Jeremias Krause; Rémi Kirstetter; Alma Kuechler; Ingo Kurth; Kerstin Kutsche; Audrey Labalme; Jean-Serene Laloy; Vincent Laugel; Floriane Le Bricquir; Anne-Sophie Lèbre; Marine Lebrun; Eric Leguern; Jonathan Levy; Nico Lieffering; Stanislas Lyonnet; Kevin Lüthy; Sian M. W. Macdonald; Lamisse Mansour-Hendili; Julien Maraval; Iris Marquardt; Carolin Mattausch; Sandra Mercier; Olfa Messaoud; Godelieve Morel; Jérémie Mortreux; Arnold Munnich; Rima Nabbout; Sophie Nambot; Vincent Navarro; Ashana Neale; Laetitia Nguyen; Mathilde Nizon; Frédérique Nowak; Melanie C. O’Leary; Sylvie Odent; Naomi Meave Ojeda; Valérie Olin; Simone Olivieri; Katrin Õunap; Lynn S. Pais; Eleni Panagiotakaki; Olivier Patat; Laurence Perrin-Sabourin; Florence Petit; Christophe Philippe; Amélie Piton; Marc Planes; Céline Poirsier; Antoine Pouzet; Clément Prouteau; Sylvia Quéméner-Redon; Mathilde Renaud; Anne-Claire Richard; Marlène Rio; Clotilde Rivier; Florence Robin-Renaldo; Paul Rollier; Massimiliano Rossi; Agathe Roubertie; Valentin Ruault; Maïlys Rupin-Mas; Pascale Saugier-Veber; Aline Saunier; Russell Saneto; Elisabeth Sarrazin; Catherine Sarret; Elise Schaefer; Caroline Schluth-Bolard; Amy Schneider; Isabell Schumann; Vladimir B. Seplyarskiy; Stephanie Spranger; Thomas Smol; Marc Sturm; Shamil R. Sunyaev; Brian Sperelakis-Beedham; Sarah L. Stenton; Friedrich Stock; Mylène Tharreau; Deniz Torun; Joseph Toulouse; Harshini Thiyagarajah; Stéphanie Valence; Sophie Valleix; Julien Van-Gils; Laurent Villard; Dorothée Ville; Nathalie Villeneuve; Antonio Vitobello; Aurélie Waernessyckle; Jan Wagner; Yvonne Weber; Dagmar Wieczorek; Tom Witkowski; Manya Yadavilli; Tony Yammine; Khaoula Zaafrane-Khachnaoui; Maha S. Zaki; Alban Ziegler; Nuria C. Bramswig; Alban Lermine; Gael Nicolas; Joseph G. Gleeson; Lynette G. Sadleir; Michael S. Hildebrand; Ingrid E. Scheffer; Nicola Whiffin; Anne O’Donnell-Luria; Heather C. Mefford; Pierre Blanc; Julien Thevenon; Camille Charbonnier; Clément Charenton; Christel Depienne; Gaetan Lesca; Caroline Nava
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The protein kinase DYRK1B is a p53 target gene and functions as a negative feedback regulator of the transcription factor RFX7
err2026-03-26
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errOAAI
errGerrit Wilms; Katharina Schwandt; Stefan Düsterhöft; Philip Helmich; Justyna Wozniak; Florian Kraft; Sebastian Kallabis; Felix Meissner; Walter Becker
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The chaperonin TRiC component Cct3 is required for axonal transport, myelination, and neuromuscular junction refinement
err2026-02-12
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errOAAI
errXiaomeng Zhang; Kamil Kajetan Zajt; Tayfun Palaz; Lisa Wang; Martin Groß; Florian Kraft; Joachim Weis; Juliane Bremer
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The potential of whole genome sequencing in pharmacogenetics: a retrospective health record study in rare disease patients
err2026-02-04
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errMadeline Gorny; Katja S. Just; Tim Krüger; Matthias Begemann; Florian Kraft; Thomas Eggermann; Jeremias Krause; Miriam Elbracht
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Frequent and clinically relevant germline DNA repair gene variants in young and familial myeloproliferative neoplasms
err2026-01-05
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errOAAI
errRobert Meyer; Maria Jimena Rodriguez; Madeline Caduc; Kim Kricheldorf; Matthias Begemann; Florian Kraft; Isabel Spier; Daniela Dey; Nergis Güzel; Kerstin Becker; Julian Baumeister; Marcelo A. S. de Toledo; Susanne Isfort; Ulrich Germing; Stefan Aretz; Tim H. Brümmendorf; Ingo Kurth; Miriam Elbracht; Lino L. Teichmann; Steffen Koschmieder
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Allogeneic stem cell transplantation from variant-carrying family donors leads to long-term engraftment in Telomere Biology Disorders
err2025-08-25
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errNergis Güzel; Yannic Schumacher; Kim Kricheldorf; Margherita Vieri; Martin Kirschner; Anne-Claire Gerhard-le Gars; Jens Panse; Mareike Tometten; Jeanette Walter; Andrea Gehrig; Erdmute Kunstmann; Laura Holthöfer; Susann Schweiger; Daniel Wolff; Florian Kraft; Miriam Elbracht; Ingo Kurth; Tim H. Brümmendorf; Robert Meyer; Fabian Beier
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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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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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Maternal uniparental disomy of chromosome 7: how chromosome 7-encoded imprinted genes contribute to the Silver-Russell phenotype
err2025-04-30
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errBegemann, Matthias; Lengyel, Anna; Pinti, Eva; Kovacs, Arpad Ferenc; Fekete, Gyorgy; Stratmann, Svea; Krause, Jeremias; Elbracht, Miriam; Kraft, Florian; Eggermann, Thomas
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Mutational constraint analysis workflow for overlapping short open reading frames and genomic neighbors
err2025-03-14
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errDanner, Martin; Begemann, Matthias; Kraft, Florian; Elbracht, Miriam; Kurth, Ingo; Krause, Jeremias
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Multi-omics-based phenotyping of AFG3L2-mutant lymphoblasts determines key factors of a pathophysiological interplay between mitochondrial vulnerability and neurodegeneration in spastic ataxia type 5
err2025-02-20
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errOeztuerk, Menekse; Herebian, Diran; Dipali, Kale; Hentschel, Andreas; Rademacher, Nina; Kraft, Florian; Horvath, Rita; Distelmaier, Felix; Meuth, Sven G.; Ruck, Tobias; Schara-Schmidt, Ulrike; Roos, Andreas
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Brain malformations and seizures by impaired chaperonin function of TRiC
errSCIENCE
IF45.8
err2024-11-01
err3
PREAI
errKraft, Florian; Yuan, Weimin; Franken, Lena; Zajt, Kamil; Hasan, Dimah; Lee, Ting-Ting; Flex, Elisabetta; Hentschel, Andreas; Innes, A. Micheil; Zheng, Bixia; Suh, Dong Sun Julia; Knopp, Cordula; Lausberg, Eva; Krause, Jeremias; Zhang, Xiaomeng; Trapane, Pamela; Carroll, Riley; Mcclatchey, Martin; Fry, Andrew E.; Wang, Lisa; Giesselmann, Sebastian; Hoang, Hieu; Baldridge, Dustin; Silverman, Gary A.; Radio, Francesca Clementina; Bertini, Enrico; Ciolfi, Andrea; Blood, Katherine A.; Agathe, Jean-Madeleine de Sainte; Charles, Perrine; Bergant, Gaber; Cuturilo, Goran; Peterlin, Borut; Diderich, Karin; Streff, Haley; Robak, Laurie; Oegema, Renske; van Binsbergen, Ellen; Herriges, John; Saunders, Carol J.; Maier, Andrea; Weber, Yvonne; Lochmuller, Hanns; Meyer, Stefanie; Aleman, Alberto; Polavarapu, Kiran; Nicolas, Gael; Goldenberg, Alice; Guyant, Lucie; Pope, Kathleen; Hehmeyer, Katherine N.; Monaghan, Kristin G.; Quade, Annegret; Caumes, Roseline; Duerinckx, Sarah; Depondt, Chantal; Van Paesschen, Wim; Rieubland, Claudine; Poloni, Claudia; Guipponi, Michel; Arcioni, Severine; Meuwissen, Marije; Jansen, Anna C.; Haack, Tobias B.; Bertrand, Miriam; Gerstner, Lea; Magg, Janine; Riess, Olaf; Schulz, Joerg B.; Wagner, Norbert; Weis, Joachim; Eggermann, Thomas; Begemann, Matthias; Roos, Andreas; Haeusler, Martin; Schedl, Tim; Tartaglia, Marco; Bremer, Juliane; Pak, Stephen C.; Frydman, Judith; Elbracht, Miriam; Kurth, Ingo
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Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia
err2024-07-01
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errAsif, Maria; Khayyat, Arwa Ishaq A.; Alawbathani, Salem; Abdullah, Uzma; Sanner, Anne; Georgomanolis, Theodoros; Haasters, Judith; Becker, Kerstin; Budde, Birgit; Becker, Christian; Thiele, Holger; Baig, Shahid M.; Isidoro-Garcia, Maria; Winter, Dominic; Pogoda, Hans -Martin; Muhammad, Sajjad; Hammerschmidt, Matthias; Kraft, Florian; Kurth, Ingo; Martin, Hilario Gomez; Wagner, Matias; Nuernberg, Peter; Hussain, Muhammad Sajid
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Complex structural variation and nonsense variant in trans cause VPS50-related disorder
err2024-06-14
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PREAI
errHecher, Laura; Gorski-Alberts, Esther; Begemann, Matthias; Herwig, Johanna; Lausberg, Eva; Hillebrand, Georg; Volk, Alexander E.; Kurth, Ingo; Kraft, Florian; Kutsche, Kerstin
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A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy
err2024-01-08
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errOAAI
errGangfuss, Andrea; Rating, Philipp; Ferreira, Tomas; Hentschel, Andreas; Della Marina, Adela; Koelbel, Heike; Sickmann, Albert; Abicht, Angela; Kraft, Florian; Ruck, Tobias; Boehm, Johann; Schaenzer, Anne; Schara-Schmidt, Ulrike; Neuhann, Teresa M.; Horvath, Rita; Roos, Andreas
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Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals
err2023-12-20
err9
PREAI
errSchmetz, Ariane; Luedecke, Hermann-Josef; Surowy, Harald; Sivalingam, Sugirtahn; Bruel, Ange-Line; Caumes, Roseline; Charles, Perrine; Chatron, Nicolas; Chrzanowska, Krystyna; Codina-Sola, Marta; Colson, Cindy; Cusco, Ivon; Denomme-Pichon, Anne-Sophie; Edery, Patrick; Faivre, Laurence; Green, Andrew; Heide, Solveig; Hsieh, Tzung-Chien; Hustinx, Alexander; Kleinendorst, Lotte; Knopp, Cordula; Kraft, Florian; Krawitz, Peter M.; Lasa-Aranzasti, Amaia; Lesca, Gaetan; Lopez-Gonzalez, Vanesa; Maraval, Julien; Mignot, Cyril; Neuhann, Teresa; Netzer, Christian; Oehl-Jaschkowitz, Barbara; Petit, Florence; Philippe, Christophe; Posmyk, Renata; Putoux, Audrey; Reis, Andre; Sanchez-Soler, Maria Jose; Suh, Julia; Tkemaladze, Tinatin; Tran Mau Them, Frederic; Travessa, Andre; Trujillano, Laura; Valenzuela, Irene; van Haelst, Mieke M.; Vasileiou, Georgia; Vincent-Delorme, Catherine; Walther, Mona; Verde, Pablo; Bramswig, Nuria C.; Wieczorek, Dagmar
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EphrinA5 regulates cell motility by modulating Snhg15/DNA triplex-dependent targeting of DNMT1 to the Ncam1 promoter
err2023-10-26
err3
errOAAI
errYildiz, Can Bora; Kundu, Tathagata; Gehrmann, Julia; Koesling, Jannis; Ravaei, Amin; Wolff, Philip; Kraft, Florian; Maie, Tiago; Jakovcevski, Mira; Pensold, Daniel; Zimmermann, Olav; Rossetti, Giulia; Costa, Ivan G.; Zimmer-Bensch, Geraldine
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Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
errBRAIN
IF11.7
err2023-09-28
err6
errOAAI
errLischka, Annette; Eggermann, Katja; Record, Christopher J.; Dohrn, Maike F.; Lassuthova, Petra; Kraft, Florian; Begemann, Matthias; Dey, Daniela; Eggermann, Thomas; Beijer, Danique; Soukalova, Jana; Laura, Matilde; Rossor, Alexander M.; Mazanec, Radim; Van Lent, Jonas; Tomaselli, Pedro J.; Ungelenk, Martin; Debus, Karlien Y.; Feely, Shawna M. E.; Glaeser, Dieter; Jagadeesh, Sujatha; Martin, Madelena; Govindaraj, Geeta M.; Singhi, Pratibha; Baineni, Revanth; Biswal, Niranjan; Ibarra-Ramirez, Marisol; Bonduelle, Maryse; Gess, Burkhard; Romero Sanchez, Juan; Suthar, Renu; Udani, Vrajesh; Nalini, Atchayaram; Unnikrishnan, Gopikrishnan; Marques Junior, Wilson; Mercier, Sandra; Procaccio, Vincent; Bris, Celine; Suresh, Beena; Reddy, Vaishnavi; Skorupinska, Mariola; Bonello-Palot, Nathalie; Mochel, Fanny; Dahl, Georg; Sasidharan, Karthika; Devassikutty, Fiji M.; Nampoothiri, Sheela; Rodovalho Doriqui, Maria J.; Mueller-Felber, Wolfgang; Vill, Katharina; Haack, Tobias B.; Dufke, Andreas; Abele, Michael; Stucka, Rolf; Siddiqi, Saima; Ullah, Noor; Spranger, Stephanie; Chiabrando, Deborah; Bolgul, Behiye S.; Parman, Yesim; Seeman, Pavel; Lampert, Angelika; Schulz, Joerg B.; Wood, John N.; Cox, James J.; Auer-Grumbach, Michaela; Timmerman, Vincent; de Winter, Jonathan; Themistocleous, Andreas C.; Shy, Michael; Bennett, David L.; Baets, Jonathan; Huebner, Christian A.; Leipold, Enrico; Zuchner, Stephan; Elbracht, Miriam; Cakar, Arman; Senderek, Jan; Hornemann, Thorsten; Woods, C. Geoffrey; Reilly, Mary M.; Kurth, Ingo
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Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort
err2023-09-08
err5
errOAAI
errKleinle, Stephanie; Scholz, Veronika; Benet-Pages, Anna; Wohlfrom, Tobias; Gehling, Stefanie; Scharf, Florentine; Rost, Simone; Prott, Eva-Christina; Grinzinger, Susanne; Hotter, Anna; Haug, Verena; Niemeier, Sabine; Wiethoff-Ubrig, Lucia; Hagenacker, Tim; Goldhahn, Klaus; von Moers, Arpad; Walter, Maggie C.; Reilich, Peter; Eggermann, Katja; Kraft, Florian; Kurth, Ingo; Erdmann, Hannes; Holinski-Feder, Elke; Neuhann, Teresa; Abicht, Angela
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Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach
err2023-03-01
err5
errOAAI
errBilo, Larissa; Ochoa, Eguzkine; Lee, Sunwoo; Dey, Daniela; Kurth, Ingo; Kraft, Florian; Rodger, Fay; Docquier, France; Toribio, Ana; Bottolo, Leonardo; Binder, Gerhard; Fekete, Gyoergy; Elbracht, Miriam; Maher, Eamonn R.; Begemann, Matthias; Eggermann, Thomas
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Functional connectivity signatures of NMDAR dysfunction in schizophrenia-integrating findings from imaging genetics and pharmaco-fMRI
err2023-02-16
err13
errOAAI
errGaebler, Arnim J.; Fakour, Niluefer; Stoehr, Felix; Zweerings, Jana; Taebi, Arezoo; Suslova, Mariia; Dukart, Juergen; Hipp, Joerg F.; Adhikari, Bhim M.; Kochunov, Peter; Muthukumaraswamy, Suresh D.; Forsyth, Anna; Eggermann, Thomas; Kraft, Florian; Kurth, Ingo; Paulzen, Michael; Gruender, Gerhard; Schneider, Frank; Mathiak, Klaus
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