Publikationen von Stefan Mundlos

Jan Berghöfer, Nadia Khaveh, Stefan Mundlos, and Julia Metzger, "Multi-tool copy number detection highlights common body size-associated variants in miniature pig breeds from different geographical regions," BMC Genomics 26 (1), Article 285 (2025).

W. L. Chan, C. H. Bucher, J. Goldes, A. C. Ma, M. Steiner, B. M. Willie, S. Mundlos, and U. Kornak, "Targeting TGF-β signaling, oxidative stress, and cellular senescence rescues osteoporosis in gerodermia osteodysplastica," Aging Cell 23 (12), Article e14322 (2024).

Gabriel M. C. Longo , Sergi Sayols, Maria E. Stefanova, Ting Xie, Waheba Elsayed, Anastasia Panagi , Amalia I. Stavridou, Giuseppe Petrosino, Elizabeth Ing-Simmons, Uirá Souto Melo, Henrike J. Gothe, Juan M. Vaquerizas, Andriana G. Kotini , Argyris Papantonis, Stefan Mundlos, and Vassilis Roukos , "Type II topoisomerases shape multi-scale 3D chromatin folding in regions of positive supercoils," Molecular Cell 84 (22), 4267-4281 (2024).

Reza Maroofian, Alistair T. Pagnamenta, Alireza Navabazam, Ron Schwessinger, Hannah E. Roberts, Maria Lopopolo, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi, Alireza Haerian, Mojtaba Soltanianzadeh, Mohammad Hadi Noori Kooshki, Samantha J. L. Knight, Kerry A. Miller, Simon J. McGowan, Nicolas Chatron, Andrew T. Timberlake, Uirá Souto Melo, Stefan Mundlos, David Buck, Stephen R. F. Twigg, Jenny C. Taylor , Andrew O. M. Wilkie, and Eduardo Calpena, "Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus," HGG Advances: Human Genetics and Genomics Advances 5 (4), Article 100352 (2024).

Janna Mitscherling, Henrike L. Sczakiel, Olga Kiskemper-Nestorjuk, Sibylle Winterhalter, Stefan Mundlos, Theodosia Bartzela, and Martin A. Mensah, "Whole genome sequencing in families with oligodontia," Oral Diseases 30 (6), 3935-3950 (2024).

Nicholas C. Lister, Ashley M. Milton, Hardip R. Patel, Shafagh A. Waters, Benjamin J. Hanrahan, Kim L. McIntyre, Alexandra M. Livernois, William B. Horspool, Lee Kian Wee, Alessa R. Ringel, Stefan Mundlos, Michael I. Robson, Linda Shearwin-Whyatt, Frank Grützner, Jennifer A. Marshall Graves, Aurora Ruiz-Herrera, and Paul D. Waters, "Incomplete transcriptional dosage compensation of chicken and platypus sex chromosomes is balanced by post-transcriptional compensation," PNAS 121 (32), Article e2322360121 (2024).

Dzmitry Hramyka, Henrike Lisa Sczakiel, Max Xiaohang Zhao, Oliver Stolpe, Mikko Nieminen, Ronja Adam, Magdalena Danyel, Lara Einicke, René Hägerling, Alexej Knaus, Stefan Mundlos, Sarina Schwartzmann, Dominik Seelow, Nadja Ehmke, Martin Atta Mensah, Felix Boschann, Dieter Beule, and Manuel Holtgrewe, "REEV: review, evaluate and explain variants," Nucleic Acids Research 52 (W1), W148-W158 (2024).

Johannes Kopp, Leonard A. Koch, Hristiana Lyubenova, Oliver Küchler, Manuel Holtgrewe, Andranik Ivanov, Christele Dubourg, Erika Launay, Sebastian Brachs, Stefan Mundlos, Nadja Ehmke, Dominik Seelow, Mélanie Fradin, Uwe Kornak, and Björn Fischer-Zirnsak, "Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy," Human Genetics 143 (5), 683-694 (2024).

Dominik Spira, Susanne Herbst, Sarina Schwartzmann, Véronique Dutrannoy, Elisabeth Steinhagen-Thiessen, Ilja Demuth, Lukas Maurer, Knut Mai, Joachim Spranger, Stefan Mundlos, and Thomas Bobbert, "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," Diabetes Care 47 (5), 798-802 (2024).

Lion Raaz, Paul-Lennard Mendez, Stefan Mundlos, Petra Knaus, and Jerome Jatzlau, "Protocol for chromatin accessibility profiling of human endothelial cells cultured under fluid shear stress using ATAC-seq," STAR Protocols 5 (1), Article 102859 (2024).

Bai-Wei Lo, Francisca Martinez Real, Andreas Magg, John Wise, Stefan Mundlos, and Paolo Franchini, "Genome-wide demographic analyses of balaenid whales revealed complex history of gene flow associated with past climate oscillation," bioRxiv (2024).

Marius-Konstantin Klever, Eric Sträng , Sara Hetzel, Julius Jungnitsch, Anna Dolnik, Robert Schöpflin, Jens-Florian Schrezenmeier, Felix Schick, Olga Blau, Jörg Westermann, Frank G . Rücker , Zuyao Xia, Konstanze Döhner, Hubert Schrezenmeier, Malte Spielmann, Alexander Meissner, Uirá Souto Melo, Stefan Mundlos, and Lars Bullinger, "AML with complex karyotype: extreme genomic complexity revealed by combined long-read sequencing and Hi-C technology," Blood Advances 7 (21), 6520-6531 (2023).

Jerome Jatzlau, Paul-Lennard Mendez, Aybuge Altay, Lion Raaz, Yufei Zhang, Sophia Mähr, Akin Sesver, Maria Reichenbach, Stefan Mundlos, Martin Vingron, and Petra Knaus, "Fluid shear stress-modulated chromatin accessibility reveals the mechano-dependency of endothelial SMAD1/5-mediated gene transcription," iScience 26 (9), 107405 (2023).

Maria E. Stefanova, Elizabeth Ing-Simmons, Stefan Stefanov, Ilya Flyamer, Heathcliff Dorado Garcia, Robert Schöpflin, Anton G. Henssen, Juan M. Vaquerizas, and Stefan Mundlos, "Doxorubicin Changes the Spatial Organization of the Genome around Active Promoters," Cells 12 (15), 2001 (2023).

Lila Allou and Stefan Mundlos, "Disruption of regulatory domains and novel transcripts as disease-causing mechanisms," BioEssays 45, 2300010 (2023).

Uirá Souto Melo, Jerome Jatzlau, César A. Prada-Medina, Elisabetta Flex, Sunhild Hartmann, Salaheddine Ali, Robert Schöpflin, Laura Bernardini, Andrea Ciolfi, Hossein Moeinzadeh, Marius-Konstantin Klever, Aybuge Altay, Pedro Vallecillo-García, Giovanna Carpentieri, Massimo Delledonne, Melanie-Jasmin Ort, Marko Schwestka, Giovanni Battista Ferrero, Marco Tartaglia, Alfredo Brusco, Manfred Gossen, Dirk Strunk, Sven Geißler, Stefan Mundlos, Sigmar Stricker, Petra Knaus, Elisa Giorgio, and Malte Spielmann, "Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation," Nature Communications 14 (1), 2034 (2023).

Giulia Cova, Juliane Glaser, Robert Schöpflin, Salaheddine Ali, César A. Prada-Medina, Martin Franke, Rita Falcone, Miriam Federer, Emanuela Ponzi, Romina Ficarella, Francesca Novara, Lars Wittler, Bernd Timmermann, Mattia Gentile, Orsetta Zuffardi, Malte Spielmann, and Stefan Mundlos, "Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve Split-Hand/Foot Malformation type 3," Nature Communications 14, 1475 (2023).

Martin A. Mensah, Henri Niskanen, Alexandre P. Magalhães, Shaon Basu, Martin Kircher, Henrike L. Sczakiel, Alisa M. V. Reiter, Jonas Elsner, Peter Meinecke, Saskia Biskup, Brian H. Y. Chung, Gregor Dombrowsky, Christel Eckmann-Scholz, Marc Phillip Hitz, Alexander Hoischen, Paul-Martin Holterhus, Wiebke Hülsemann, Kimia Kahrizi, Vera M. Kalscheuer, Anita Kan, Mandy Krumbiegel, Ingo Kurth, Jonas Leubner, Ann Carolin Longardt, Jörg D. Moritz, Hossein Najmabadi, Karolina Skipalova, Lot Snijders Blok, Andreas Tzschach, Eberhard Wiedersberg, Martin Zenker, Carla Garcia-Cabau, Rene Buschow, Xavier Salvatella, Matthew L. Kraushar, Stefan Mundlos, Almuth Caliebe, Malte Spielmann, Denise Horn, and Denes Hnisz, "Aberrant phase separation and nucleolar dysfunction in rare genetic diseases," Nature 614 (7948), 564-571 (2023).

Luis Francisco González Álvarez, Jair Tenorio-Castaño, Fernando A. Poletta, Fernando Santos-Simarro, Pedro Arias, Natalia Gallego, Iêda Maria Orioli, Stefan Mundlos, Eduardo E. Castilla, Víctor Martínez-Glez, María Luisa Martínez-Frías, Víctor L. Ruiz-Pérez, Julián Nevado, and Pablo Lapunzina, "A large, ten-generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies," American Journal of Medical Genetics Part A 191 (1), 100 (2022).

Robert Schöpflin, Uirá Souto Melo, Mohammad Hossein Moeinzadeh, David Heller, Verena Laupert, Jakob Hertzberg, Manuel Holtgrewe, Nico Alavi, Marius-Konstantin Klever, Julius Jungnitsch, Emel Comak, Seval Türkmen, Denise Horn, Yannis Duffourd, Laurence Faivre, Patrick Callier, Damien Sanlaville, Orsetta Zuffardi, Romano Tenconi, Nehir Edibe Kurtas, Sabrina Giglio, Bettina Prager, Anna Latos-Bielenska, Ida Vogel, Merete Bugge, Niels Tommerup, Malte Spielmann, Antonio Vitobello, Vera M. Kalscheuer, Martin Vingron, and Stefan Mundlos, "Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes," Nature Communications 13 (1), 6470 (2022).