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Stefan Mundlos

Charité – Universitätsmedizin Berlin

109H-index
755Paper Count
4.9WCitation Count
Published Papers 254
Publication Date
A biallelic MRPL42 variant causes a combined oxidative phosphorylation deficiency syndrome revealed by multi-omics
err2026-04-03
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errFelix Boschann; Johannes Kopp; Susanne Römer; Oliver Küchler; Hristiana Lyubenova; Nicolai von Kügelgen; Erik Hertstein; Lea Hagelstein; Christian Becker; Kerstin Becker; Sebastian Brachs; Knut Mai; David Meierhofer; Dominik Seelow; Stefan Mundlos; Denise Horn; Markus Schuelke; Björn Fischer-Zirnsak
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A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia
errNature
IF48.5
err2025-08-20
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errOAAI
errJean Jacobs; Hristiana Lyubenova; Sven Potelle; Johannes Kopp; Isabelle Gerin; Wing Lee Chan; Miguel Rodriguez de los Santos; Wiebke Hülsemann; Martin A. Mensah; Valérie Cormier-Daire; Marieke Joosten; Hennie T. Bruggenwirth; Kyra E. Stuurman; Valancy Miranda; Philippe M. Campeau; Lars Wittler; Julie Graff; Stefan Mundlos; Daniel M. Ibrahim; Emile Van Schaftingen; Björn Fischer-Zirnsak; Uwe Kornak; Nadja Ehmke; Guido T. Bommer
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How vascularization is reciprocally coupled to chondrogenesis and osteogenesis in bone healing: lessons from the growth plate
errBone
IF3.6
err2025-07-29
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errOAAI
errJulia Mehl; Katharina Schmidt-Bleek; Agnes Ellinghaus; Stefan Mundlos; Holger Gerhardt; Georg N. Duda; Viola Vogel
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Comparative single-cell analyses reveal evolutionary repurposing of a conserved gene programme in bat wing development
err2025-07-16
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errOAAI
errMagdalena Schindler; Christian Feregrino; Silvia Aldrovandi; Bai-Wei Lo; Anna A. Monaco; Alessa R. Ringel; Ariadna E. Morales; Tobias Zehnder; Rose Yinghan Behncke; Juliane Glaser; Alexander Barclay; Guillaume Andrey; Bjørt K. Kragesteen; René Hägerling; Stefan A. Haas; Martin Vingron; Igor Ulitsky; Marc A. Marti-Renom; Julio Hechavarria; Nicolas Fasel; Michael Hiller; Darío G. Lupiáñez; Stefan Mundlos; Francisca M. Real
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Enhancer adoption by an LTR retrotransposon generates viral-like particles, causing developmental limb phenotypes
err2025-07-09
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errOAAI
errJuliane Glaser; Giulia Cova; Beatrix Fauler; Cesar A. Prada-Medina; Virginie Stanislas; Mai H. Q. Phan; Robert Schöpflin; Yasmin Aktas; Martin Franke; Guillaume Andrey; Natalia Bartzoka; Christina Paliou; Verena Laupert; Wing-Lee Chan; Lars Wittler; Thorsten Mielke; Stefan Mundlos
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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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Genome-Wide Demographic Analyses of Balaenid Whales Revealed Complex History of Gene Flow Associated with Past Climate Oscillation
err2025-05-05
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errOAAI
errLo, Bai-Wei; Real, Francisca Martinez; Magg, Andreas; Wise Sr, John Pierce; Mundlos, Stefan; Franchini, Paolo
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Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7
err2025-01-01
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errOAAI
errGardner, Jessica C.; Jovanovic, Katarina; Ottaviani, Daniele; Melo, Uira Souto; Jackson, Joshua; Guarascio, Rosellina; Ziaka, Kalliopi; Hau, Kwan-Leong; Lane, Amelia; Taylor, Rachel L.; Chai, Niuzheng; Gkertsou, Christina; Fernando, Owen; Piwecka, Monika; Georgiou, Michalis; Mundlos, Stefan; Black, Graeme C.; Moore, Anthony T.; Michaelides, Michel; Cheetham, Michael E.; Hardcastle, Alison J.
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Type II topoisomerases shape multi-scale 3D chromatin folding in regions of positive supercoils
err2024-11-01
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errOAAI
errLongo, Gabriel M. C.; Sayols, Sergi; Stefanova, Maria E.; Xie, Ting; Elsayed, Waheba; Panagi, Anastasia; Stavridou, Amalia I.; Petrosino, Giuseppe; Ing-Simmons, Elizabeth; Melo, Uira Souto; Gothe, Henrike J.; Vaquerizas, Juan M.; Kotini, Andriana G.; Papantonis, Argyris; Mundlos, Stefan; Roukos, Vassilis
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Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus
err2024-10-01
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errOAAI
errMaroofian, Reza; Pagnamenta, Alistair T.; Navabazam, Alireza; Schwessinger, Ron; Roberts, Hannah E.; Lopopolo, Maria; Dehghani, Mohammadreza; Mehrjardi, Mohammad Yahya Vahidi; Haerian, Alireza; Soltanianzadeh, Mojtaba; Kooshki, Mohammad Hadi Noori; Knight, Samantha J. L.; Miller, Kerry A.; McGowan, Simon J.; Chatron, Nicolas; Timberlake, Andrew T.; Melo, Uira Souto; Mundlos, Stefan; Buck, David; Twigg, Stephen R. F.; Taylor, Jenny C.; Wilkie, Andrew O. M.; Calpena, Eduardo
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Targeting TGF-β signaling, oxidative stress, and cellular senescence rescues osteoporosis in gerodermia osteodysplastica
err2024-09-05
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errOAAI
errChan, W. L.; Bucher, C. H.; Goldes, J.; Ma, A. C.; Steiner, M.; Willie, B. M.; Mundlos, S.; Kornak, U.
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Incomplete transcriptional dosage compensation of chicken and platypus sex chromosomes is balanced by post- transcriptional compensation
err2024-07-29
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errOAAI
errLister, Nicholas C.; Milton, Ashley M.; Patel, Hardip R.; Waters, Shafagh A.; Hanrahan, Benjamin J.; McIntyre, Kim L.; Livernois, Alexandra M.; Horspool, William B.; Wee, Lee Kian; Ringel, Alessa R.; Mundlos, Stefan; Robson, Michael I.; Shearwin-Whyatt, Linda; Grutzner, Frank; Graves, Jennifer A. Marshall
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REEV: review, evaluate and explain variants
err2024-05-20
err1
errOAAI
errHramyka, Dzmitry; Sczakiel, Henrike Lisa; Zhao, Max Xiaohang; Stolpe, Oliver; Nieminen, Mikko; Adam, Ronja; Danyel, Magdalena; Einicke, Lara; Haegerling, Rene; Knaus, Alexej; Mundlos, Stefan; Schwartzmann, Sarina; Seelow, Dominik; Ehmke, Nadja; Mensah, Martin Atta; Boschann, Felix; Beule, Dieter; Holtgrewe, Manuel
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Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy
err2024-04-09
err1
errOAAI
errKopp, Johannes; Koch, Leonard A.; Lyubenova, Hristiana; Kuechler, Oliver; Holtgrewe, Manuel; Ivanov, Andranik; Dubourg, Christele; Launay, Erika; Brachs, Sebastian; Mundlos, Stefan; Ehmke, Nadja; Seelow, Dominik; Fradin, Melanie; Kornak, Uwe; Fischer-Zirnsak, Bjoern
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A Novel Variant in the WRN Gene Detected in a Case of Early-Onset Severe Insulin Resistance Displaying Some but Not All Hallmarks of Progeroid Werner Syndrome
err2024-01-26
err1
PREAI
errSpira, Dominik; Herbst, Susanne; Schwartzmann, Sarina; Dutrannoy, Veronique; Steinhagen-Thiessen, Elisabeth; Demuth, Ilja; Maurer, Lukas; Mai, Knut; Spranger, Joachim; Mundlos, Stefan; Bobbert, Thomas
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HOXD13-associated synpolydactyly: Extending and validating the genotypic and phenotypic spectrum with 38 new and 49 published families
err2023-11-01
err1
PREAI
errGottschalk, Annika; Sczakiel, Henrike L.; Huelsemann, Wiebke; Schwartzmann, Sarina; Abad-Perez, Angela T.; Gruenhagen, Johannes; Ott, Claus-Eric; Spielmann, Malte; Horn, Denise; Mundlos, Stefan; Jamsheer, Aleksander; Mensah, Martin A.
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AML with complex karyotype: extreme genomic complexity revealed by combined long-read sequencing and Hi-C technology
err2023-10-27
err6
errOAAI
errKlever, Marius-Konstantin; Straeng, Eric; Hetzel, Sara; Jungnitsch, Julius; Dolnik, Anna; Schoepffin, Robert; Schrezenmeier, Jens-Florian; Schick, Felix; Blau, Olga; Westermann, Joerg; Ruecker, Frank G.; Xia, Zuyao; Doehner, Konstanze; Schrezenmeier, Hubert; Spielmann, Malte; Meissner, Alexander; Melo, Uira Souto; Mundlos, Stefan; Bullinger, Lars
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Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation (vol 4, 6301, 2023)
err2023-10-09
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errOAAI
errMelo, Uira Souto; Jatzlau, Jerome; Prada-Medina, Cesar A.; Flex, Elisabetta; Hartmann, Sunhild; Ali, Salaheddine; Schoepflin, Robert; Bernardini, Laura; Ciolfi, Andrea; Moeinzadeh, M-Hossein; Klever, Marius-Konstantin; Altay, Aybuge; Vallecillo-Garcia, Pedro; Carpentieri, Giovanna; Delledonne, Massimo; Ort, Melanie-Jasmin; Schwestka, Marko; Ferrero, Giovanni Battista; Tartaglia, Marco; Brusco, Alfredo; Gossen, Manfred; Strunk, Dirk; Geissler, Sven; Mundlos, Stefan; Stricker, Sigmar; Knaus, Petra; Giorgio, Elisa; Spielmann, Malte
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