Stefan Mundlos

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 47

Top Topics

Intellectual Disability

Gene Expression

Top Venues

Nature communications

Nature genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Johannes Kopp, Leonard A Koch, Hristiana Lyubenova, Oliver Küchler, Manuel Holtgrewe, Andranik Ivanov, Christele Dubourg, Érika Dayane Leal Rodrigues, Sebastian Brachs, Stefan Mundlos, Nadja Ehmke, Dominik Seelow, Mélanie Fradin, Uwe Kornak, Björn Fischer-Zirnsak
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy. Human genetics 143 (5) (2024)
Johannes Kopp, Leonard A Koch, Hristiana Lyubenova, Oliver Küchler, Manuel Holtgrewe, Andranik Ivanov, Christele Dubourg, Érika Dayane Leal Rodrigues, Sebastian Brachs, Stefan Mundlos, Nadja Ehmke, Dominik Seelow, Mélanie Fradin, Uwe Kornak, Björn Fischer-Zirnsak
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy. Human genetics (2024)
Johannes Kopp, Leonard A Koch, Hristiana Lyubenova, Oliver Küchler, Manuel Holtgrewe, Andranik Ivanov, Christele Dubourg, Érika Dayane Leal Rodrigues, Sebastian Brachs, Stefan Mundlos, Nadja Ehmke, Dominik Seelow, Mélanie Fradin, Uwe Kornak, Björn Fischer-Zirnsak
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy. Human genetics 143 (5) (2024)
Johannes Kopp, Leonard A Koch, Hristiana Lyubenova, Oliver Küchler, Manuel Holtgrewe, Andranik Ivanov, Christele Dubourg, Érika Dayane Leal Rodrigues, Sebastian Brachs, Stefan Mundlos, Nadja Ehmke, Dominik Seelow, Mélanie Fradin, Uwe Kornak, Björn Fischer-Zirnsak
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy. Human genetics 143 (5) (2024)
Johannes Kopp, Leonard A Koch, Hristiana Lyubenova, Oliver Küchler, Manuel Holtgrewe, Andranik Ivanov, Christele Dubourg, Érika Dayane Leal Rodrigues, Sebastian Brachs, Stefan Mundlos, Nadja Ehmke, Dominik Seelow, Mélanie Fradin, Uwe Kornak, Björn Fischer-Zirnsak
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy. Human genetics 143 (5) (2024)
Konstantin Okonechnikov, Aylin Camgöz, Owen Chapman, Sameena Wani, Donglim Esther Park, Jens-Martin Hübner, Abhijit Chakraborty, Meghana Pagadala, Rosalind Bump, Sahaana Chandran, Katerina Kraft, Rocio Acuna-Hidalgo, Derek Reid, Kristin L Sikkink, Monika Mauermann, Edwin F Juarez, Anne Jenseit, James T Robinson, Kristian W Pajtler, Till Milde, Natalie Jäger, Petra Fiesel, Ling Morgan, Sunita Sridhar, Nicole G Coufal, Michael L Levy, Denise Malicki, Charlotte Hobbs, Stephen F Kingsmore, Shareef Nahas, Matija Snuderl, John Crawford, Robert J Wechsler-Reya, Tom Belle Davidson, Jennifer A Cotter, George Michaiel, Gudrun Fleischhack, Stefan Mundlos, Anthony Schmitt, Hannah Carter, Kulandaimanuvel Antony Michealraj, Sachin A Kumar, Michael D Taylor, Jeremy Rich, Frank Buchholz, Jill P Mesirov, Stefan M Pfister, Ferhat Ay, Jesse R Dixon, Marcel Kool, Lukas Chavez
3D genome mapping identifies subgroup-specific chromosome conformations and tumor-dependency genes in ependymoma. Nature communications 14 (1) (2023)
Giulia Cova, Juliane Glaser, Robert Schöpflin, Cesar Augusto Prada-Medina, Salaheddine Ali, Martin Franke, Rita Falcone, Miriam Federer, Emanuela Ponzi, Romina Ficarella, Francesca Novara, Lars Wittler, Bernd Timmermann, Mattia Gentile, Orsetta Zuffardi, Malte Spielmann, Stefan Mundlos
Publisher Correction: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3. Nature communications 14 (1) (2023)
Martin Atta Mensah, Henri Niskanen, Alexandre P Magalhaes, Shaon Basu, Martin Kircher, Henrike L Sczakiel, Alisa Maria Vittoria 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, René Buschow, Xavier Salvatella, Matthew L Kraushar, Stefan Mundlos, Almuth Caliebe, Malte Spielmann, Denise Horn, Denes Hnisz
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases. Nature 614 (7948) (2023)
Giulia Cova, Juliane Glaser, Robert Schöpflin, Cesar Augusto Prada-Medina, Salaheddine Ali, Martin Franke, Rita Falcone, Miriam Federer, Emanuela Ponzi, Romina Ficarella, Francesca Novara, Lars Wittler, Bernd Timmermann, Mattia Gentile, Orsetta Zuffardi, Malte Spielmann, Stefan Mundlos
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3. Nature communications 14 (1) (2023)
Giulia Cova, Juliane Glaser, Robert Schöpflin, Cesar Augusto Prada-Medina, Salaheddine Ali, Martin Franke, Rita Falcone, Miriam Federer, Emanuela Ponzi, Romina Ficarella, Francesca Novara, Lars Wittler, Bernd Timmermann, Mattia Gentile, Orsetta Zuffardi, Malte Spielmann, Stefan Mundlos
Publisher Correction: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3. Nature communications 14 (1) (2023)
Konstantin Okonechnikov, Aylin Camgöz, Owen Chapman, Sameena Wani, Donglim Esther Park, Jens-Martin Hübner, Abhijit Chakraborty, Meghana Pagadala, Rosalind Bump, Sahaana Chandran, Katerina Kraft, Rocio Acuna-Hidalgo, Derek Reid, Kristin L Sikkink, Monika Mauermann, Edwin F Juarez, Anne Jenseit, James T Robinson, Kristian W Pajtler, Till Milde, Natalie Jäger, Petra Fiesel, Ling Morgan, Sunita Sridhar, Nicole G Coufal, Michael L Levy, Denise Malicki, Charlotte Hobbs, Stephen F Kingsmore, Shareef Nahas, Matija Snuderl, John Crawford, Robert J Wechsler-Reya, Tom Belle Davidson, Jennifer A Cotter, George Michaiel, Gudrun Fleischhack, Stefan Mundlos, Anthony Schmitt, Hannah Carter, Kulandaimanuvel Antony Michealraj, Sachin A Kumar, Michael D Taylor, Jeremy Rich, Frank Buchholz, Jill P Mesirov, Stefan M Pfister, Ferhat Ay, Jesse R Dixon, Marcel Kool, Lukas Chavez
3D genome mapping identifies subgroup-specific chromosome conformations and tumor-dependency genes in ependymoma. Nature communications 14 (1) (2023)
Giulia Cova, Juliane Glaser, Robert Schöpflin, Cesar Augusto Prada-Medina, Salaheddine Ali, Martin Franke, Rita Falcone, Miriam Federer, Emanuela Ponzi, Romina Ficarella, Francesca Novara, Lars Wittler, Bernd Timmermann, Mattia Gentile, Orsetta Zuffardi, Malte Spielmann, Stefan Mundlos
Publisher Correction: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3. Nature communications 14 (1) (2023)
Uirá Souto Melo, Jerome Jatzlau, Cesar A Prada-Medina, Elisabetta Flex, Sunhild Hartmann, Salaheddine Ali, Robert Schöpflin, Laura Bernardini, Andrea Ciolfi, M-Hossein Moeinzadeh, Marius-Konstantin Klever, Aybuge Altay, Pedro Vallecillo-García, Giovanna Carpentieri, Massimo Delledonne, Melanie-Jasmin Ort, Marko Schwestka, Giovanni Battista Ferrero, Tartaglia Marco, Alfredo Brusco, Manfred Gossen, Dirk Strunk, Sven Geissler, Stefan Mundlos, Sigmar Stricker, Petra Knaus, Elisa Giorgio, Malte Spielmann
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation. Nature communications 14 (1) (2023)
Konstantin Okonechnikov, Aylin Camgöz, Owen Chapman, Sameena Wani, Donglim Esther Park, Jens-Martin Hübner, Abhijit Chakraborty, Meghana Pagadala, Rosalind Bump, Sahaana Chandran, Katerina Kraft, Rocio Acuna-Hidalgo, Derek Reid, Kristin L Sikkink, Monika Mauermann, Edwin F Juarez, Anne Jenseit, James T Robinson, Kristian W Pajtler, Till Milde, Natalie Jäger, Petra Fiesel, Ling Morgan, Sunita Sridhar, Nicole G Coufal, Michael L Levy, Denise Malicki, Charlotte Hobbs, Stephen F Kingsmore, Shareef Nahas, Matija Snuderl, John Crawford, Robert J Wechsler-Reya, Tom Belle Davidson, Jennifer A Cotter, George Michaiel, Gudrun Fleischhack, Stefan Mundlos, Anthony Schmitt, Hannah Carter, Kulandaimanuvel Antony Michealraj, Sachin A Kumar, Michael D Taylor, Jeremy Rich, Frank Buchholz, Jill P Mesirov, Stefan M Pfister, Ferhat Ay, Jesse R Dixon, Marcel Kool, Lukas Chavez
3D genome mapping identifies subgroup-specific chromosome conformations and tumor-dependency genes in ependymoma. Nature communications 14 (1) (2023)
Martin Atta Mensah, Henri Niskanen, Alexandre P Magalhaes, Shaon Basu, Martin Kircher, Henrike L Sczakiel, Alisa Maria Vittoria 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, René Buschow, Xavier Salvatella, Matthew L Kraushar, Stefan Mundlos, Almuth Caliebe, Malte Spielmann, Denise Horn, Denes Hnisz
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases. Nature 614 (7948) (2023)
Giulia Cova, Juliane Glaser, Robert Schöpflin, Cesar Augusto Prada-Medina, Salaheddine Ali, Martin Franke, Rita Falcone, Miriam Federer, Emanuela Ponzi, Romina Ficarella, Francesca Novara, Lars Wittler, Bernd Timmermann, Mattia Gentile, Orsetta Zuffardi, Malte Spielmann, Stefan Mundlos
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3. Nature communications 14 (1) (2023)
Konstantin Okonechnikov, Aylin Camgöz, Owen Chapman, Sameena Wani, Donglim Esther Park, Jens-Martin Hübner, Abhijit Chakraborty, Meghana Pagadala, Rosalind Bump, Sahaana Chandran, Katerina Kraft, Rocio Acuna-Hidalgo, Derek Reid, Kristin L Sikkink, Monika Mauermann, Edwin F Juarez, Anne Jenseit, James T Robinson, Kristian W Pajtler, Till Milde, Natalie Jäger, Petra Fiesel, Ling Morgan, Sunita Sridhar, Nicole G Coufal, Michael L Levy, Denise Malicki, Charlotte Hobbs, Stephen F Kingsmore, Shareef Nahas, Matija Snuderl, John Crawford, Robert J Wechsler-Reya, Tom Belle Davidson, Jennifer A Cotter, George Michaiel, Gudrun Fleischhack, Stefan Mundlos, Anthony Schmitt, Hannah Carter, Kulandaimanuvel Antony Michealraj, Sachin A Kumar, Michael D Taylor, Jeremy Rich, Frank Buchholz, Jill P Mesirov, Stefan M Pfister, Ferhat Ay, Jesse R Dixon, Marcel Kool, Lukas Chavez
3D genome mapping identifies subgroup-specific chromosome conformations and tumor-dependency genes in ependymoma. Nature communications 14 (1) (2023)
Martin Atta Mensah, Henri Niskanen, Alexandre P Magalhaes, Shaon Basu, Martin Kircher, Henrike L Sczakiel, Alisa Maria Vittoria 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, René Buschow, Xavier Salvatella, Matthew L Kraushar, Stefan Mundlos, Almuth Caliebe, Malte Spielmann, Denise Horn, Denes Hnisz
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases. Nature 614 (7948) (2023)
Martin Atta Mensah, Henri Niskanen, Alexandre P Magalhaes, Shaon Basu, Martin Kircher, Henrike L Sczakiel, Alisa Maria Vittoria 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, René Buschow, Xavier Salvatella, Matthew L Kraushar, Stefan Mundlos, Almuth Caliebe, Malte Spielmann, Denise Horn, Denes Hnisz
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases. Nature (2023)
Martin Atta Mensah, Henri Niskanen, Alexandre P Magalhaes, Shaon Basu, Martin Kircher, Henrike L Sczakiel, Alisa Maria Vittoria 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, René Buschow, Xavier Salvatella, Matthew L Kraushar, Stefan Mundlos, Almuth Caliebe, Malte Spielmann, Denise Horn, Denes Hnisz
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases. Nature (2023)
Giulia Cova, Juliane Glaser, Robert Schöpflin, Cesar Augusto Prada-Medina, Salaheddine Ali, Martin Franke, Rita Falcone, Miriam Federer, Emanuela Ponzi, Romina Ficarella, Francesca Novara, Lars Wittler, Bernd Timmermann, Mattia Gentile, Orsetta Zuffardi, Malte Spielmann, Stefan Mundlos
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3. Nature communications 14 (1) (2023)
Giulia Cova, Juliane Glaser, Robert Schöpflin, Cesar Augusto Prada-Medina, Salaheddine Ali, Martin Franke, Rita Falcone, Miriam Federer, Emanuela Ponzi, Romina Ficarella, Francesca Novara, Lars Wittler, Bernd Timmermann, Mattia Gentile, Orsetta Zuffardi, Malte Spielmann, Stefan Mundlos
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3. Nature communications 14 (1) (2023)
Martin Atta Mensah, Henri Niskanen, Alexandre P Magalhaes, Shaon Basu, Martin Kircher, Henrike L Sczakiel, Alisa Maria Vittoria 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, René Buschow, Xavier Salvatella, Matthew L Kraushar, Stefan Mundlos, Almuth Caliebe, Malte Spielmann, Denise Horn, Denes Hnisz
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases. Nature 614 (7948) (2023)
Konstantin Okonechnikov, Aylin Camgöz, Owen Chapman, Sameena Wani, Donglim Esther Park, Jens-Martin Hübner, Abhijit Chakraborty, Meghana Pagadala, Rosalind Bump, Sahaana Chandran, Katerina Kraft, Rocio Acuna-Hidalgo, Derek Reid, Kristin L Sikkink, Monika Mauermann, Edwin F Juarez, Anne Jenseit, James T Robinson, Kristian W Pajtler, Till Milde, Natalie Jäger, Petra Fiesel, Ling Morgan, Sunita Sridhar, Nicole G Coufal, Michael L Levy, Denise Malicki, Charlotte Hobbs, Stephen F Kingsmore, Shareef Nahas, Matija Snuderl, John Crawford, Robert J Wechsler-Reya, Tom Belle Davidson, Jennifer A Cotter, George Michaiel, Gudrun Fleischhack, Stefan Mundlos, Anthony Schmitt, Hannah Carter, Kulandaimanuvel Antony Michealraj, Sachin A Kumar, Michael D Taylor, Jeremy Rich, Frank Buchholz, Jill P Mesirov, Stefan M Pfister, Ferhat Ay, Jesse R Dixon, Marcel Kool, Lukas Chavez
3D genome mapping identifies subgroup-specific chromosome conformations and tumor-dependency genes in ependymoma. Nature communications 14 (1) (2023)
Konstantin Okonechnikov, Aylin Camgöz, Owen Chapman, Sameena Wani, Donglim Esther Park, Jens-Martin Hübner, Abhijit Chakraborty, Meghana Pagadala, Rosalind Bump, Sahaana Chandran, Katerina Kraft, Rocio Acuna-Hidalgo, Derek Reid, Kristin L Sikkink, Monika Mauermann, Edwin F Juarez, Anne Jenseit, James T Robinson, Kristian W Pajtler, Till Milde, Natalie Jäger, Petra Fiesel, Ling Morgan, Sunita Sridhar, Nicole G Coufal, Michael L Levy, Denise Malicki, Charlotte Hobbs, Stephen F Kingsmore, Shareef Nahas, Matija Snuderl, John Crawford, Robert J Wechsler-Reya, Tom Belle Davidson, Jennifer A Cotter, George Michaiel, Gudrun Fleischhack, Stefan Mundlos, Anthony Schmitt, Hannah Carter, Kulandaimanuvel Antony Michealraj, Sachin A Kumar, Michael D Taylor, Jeremy Rich, Frank Buchholz, Jill P Mesirov, Stefan M Pfister, Ferhat Ay, Jesse R Dixon, Marcel Kool, Lukas Chavez
3D genome mapping identifies subgroup-specific chromosome conformations and tumor-dependency genes in ependymoma. Nature communications 14 (1) (2023)
Uirá Souto Melo, Jerome Jatzlau, Cesar A Prada-Medina, Elisabetta Flex, Sunhild Hartmann, Salaheddine Ali, Robert Schöpflin, Laura Bernardini, Andrea Ciolfi, M-Hossein Moeinzadeh, Marius-Konstantin Klever, Aybuge Altay, Pedro Vallecillo-García, Giovanna Carpentieri, Massimo Delledonne, Melanie-Jasmin Ort, Marko Schwestka, Giovanni Battista Ferrero, Tartaglia Marco, Alfredo Brusco, Manfred Gossen, Dirk Strunk, Sven Geissler, Stefan Mundlos, Sigmar Stricker, Petra Knaus, Elisa Giorgio, Malte Spielmann
Author Correction: Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation. Nature communications 14 (1) (2023)
Martin Atta Mensah, Henri Niskanen, Alexandre P Magalhaes, Shaon Basu, Martin Kircher, Henrike L Sczakiel, Alisa Maria Vittoria 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, René Buschow, Xavier Salvatella, Matthew L Kraushar, Stefan Mundlos, Almuth Caliebe, Malte Spielmann, Denise Horn, Denes Hnisz
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases. Nature 614 (7948) (2023)
Francisca M Real, Miguel Lao-Pérez, Miguel Burgos, Stefan Mundlos, Darío G Lupiáñez, Rafael Jiménez, Francisco Javier Barrionuevo
Cell adhesion and immune response, two main functions altered in the transcriptome of seasonally regressed testes of two mammalian species. Journal of experimental zoology. Part B, Molecular and developmental evolution (2022)
Robert Schöpflin, Uirá Souto Melo, 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, Stefan Mundlos
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes. Nature communications 13 (1) (2022)
Felix Boschann, Daniel Acero Moreno, Martin A Mensah, Henrike L Sczakiel, Karolina Skipalova, Manuel Holtgrewe, Stefan Mundlos, Björn Fischer-Zirnsak
Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome). Journal of human genetics 67 (7) (2022)
Guido Vogt, Sarah Verheyen, Sarina Schwartzmann, Nadja Ehmke, Cornelia Potratz, Anette Schwerin-Nagel, Barbara Plecko, Manuel Holtgrewe, Dominik Seelow, Jasmin Blatterer, Michael R Speicher, Uwe Kornak, Denise Horn, Stefan Mundlos, Björn Fischer-Zirnsak, Felix Boschann
Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive. Journal of medical genetics (2021)
Guido Vogt, Naji El Choubassi, Ágnes Herczegfalvi, Heike Kölbel, Anja Lekaj, Ulrike Schara, Manuel Holtgrewe, Sabine Krause, Rita Horvath, Markus Schuelke, Christoph Hübner, Stefan Mundlos, Andreas Roos, Hanns Lochmüller, Veronika Karcagi, Uwe Kornak, Björn Fischer-Zirnsak
Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa. Journal of inherited metabolic disease 44 (4) (2021)
Lila Allou, Sara Balzano, Andreas Magg, Mathieu Quinodoz, Beryl Royer-Bertrand, Robert Schöpflin, Wing-Lee Chan, Carlos E Speck-Martins, Daniel Rocha Carvalho, Luciano Farage, Charles Marques Lourenço, Regina Albuquerque, Srilakshmi Rajagopal, Sheela Nampoothiri, Belinda Campos-Xavier, Carole Chiesa, Florence Niel-Bütschi, Lars Wittler, Bernd Timmermann, Malte Spielmann, Michael I Robson, Alessa Ringel, Verena Heinrich, Giulia Cova, Guillaume Andrey, Cesar A Prada-Medina, Rosanna Pescini Gobert, Sheila Unger, Luisa Bonafé, Phillip Grote, Carlo Rivolta, Stefan Mundlos, Andrea Superti-Furga
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator. Nature 592 (7852) (2021)
Marie Coutelier, Manuel Holtgrewe, Marten Jäger, Ricarda Flöttman, Martin Atta Mensah, Malte Spielmann, Peter M Krawitz, Denise Horn, Dieter Beule, Stefan Mundlos
Combining callers improves the detection of copy number variants from whole-genome sequencing. European journal of human genetics : EJHG (2021)
Michael I Robson, Stefan Mundlos
Jumping retroviruses nudge TADs apart. Nature genetics 51 (9) (2020)
Jean Tori Pantel, Nurulhuda Hajjir, Magdalena Danyel, Jonas Elsner, Angela Teresa Abad-Perez, Peter Hansen, Stefan Mundlos, Malte Spielmann, Denise Horn, Claus-Eric Ott, Martin Atta Mensah
Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study. Journal of medical Internet research 22 (10) (2020)
Francisca M Real, Stefan A Haas, Paolo Franchini, Peiwen Xiong, Oleg Simakov, Heiner Kuhl, Robert Schöpflin, David Heller, M-Hossein Moeinzadeh, Verena Heinrich, Thomas Krannich, Annkatrin Bressin, Michaela Friederike Hartmann, Stefan A Wudy, Dina K N Dechmann, Alicia Hurtado, Francisco Javier Barrionuevo, Magdalena Schindler, Izabela Harabula, Marco Osterwalder, Michael Hiller, Lars Wittler, Axel Visel, Bernd Timmermann, Axel Meyer, Martin Vingron, Rafael Jiménez, Stefan Mundlos, Darío G Lupiáñez
The mole genome reveals regulatory rearrangements associated with adaptive intersexuality. Science (New York, N.Y.) 370 (6513) (2020)
Julia Luther, Timur Alexander Yorgan, Hazibullah Waizy, Lorenz Ulsamer, Till Koehne, Nannan Liao, Daniela Keller, Nele Vollersen, Stefan Teufel, Mona Neven, Stephanie Peters, Michaela Schweizer, Andreas Trumpp, Sebastian Rosigkeit, Ernesto Bockamp, Stefan Mundlos, Uwe Kornak, Ralf Oheim, Michael Amling, Thorsten Schinke, Jean-Pierre David
Wnt1 is an Lrp5-independent bone-anabolic Wnt ligand. Science translational medicine 10 (466) (2019)
Björn Fischer-Zirnsak, Rainer Koenig, Franz Alisch, Nilay Güneş, Ingrid Hausser, Namrata Saha, Stefanie Beck-Woedl, Tobias B Haack, Christian Thiel, Clemens Kamrath, Beyhan Tüysüz, Stephan Henning, Stefan Mundlos, Katrin Hoffmann, Denise Horn, Uwe Kornak
SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy. Journal of human genetics 64 (7) (2019)
Malte Spielmann, Darío G Lupiáñez, Stefan Mundlos
Structural variation in the 3D genome. Nature reviews. Genetics 19 (7) (2019)
Tzung-Chien Hsieh, Martin Atta Mensah, Jean Tori Pantel, Dione Aguilar-Y-Mendez, Omri Bar, Allan Bayat, Luis Becerra-Solano, Heidi Beate Bentzen, Saskia Biskup, Oleg V Borisov, Oivind Braaten, Claudia Ciaccio, Marie Coutelier, Kirsten Cremer, Magdalena Danyel, Svenja Daschkey, Hilda David Eden, Koenraad Devriendt, Sandra Wilson, Sofia Douzgou, Dejan Đukić, Nadja Ehmke, Christine Fauth, Björn Fischer-Zirnsak, Nicole Fleischer, Heinz Gabriel, Luitgard Graul-Neumann, Karen W Gripp, Yaron Gurovich, Asya Gusina, Nechama Haddad, Nurulhuda Hajjir, Yair Hanani, Jakob Hertzberg, Konstanze Hoertnagel, Janelle Howell, Ivan Ivanovski, Angela Kaindl, Tom Kamphans, Susanne Kamphausen, Catherine Karimov, Hadil Kathom, Anna Keryan, Alexej Knaus, Sebastian Köhler, Uwe Kornak, Alexander V Lavrov, Maximilian Leitheiser, Gholson J Lyon, Elisabeth Mangold, Purificación Marín Reina, Antonio Martinez Carrascal, Diana Mitter, Laura Morlan Herrador, Guy Nadav, Markus Maria Nöthen, Alfredo Orrico, Claus-Eric Ott, Kristen L Park, Borut Peterlin, Laura Pölsler, Annick Raas-Rothschild, Linda Randolph, Nicole Revencu, Christina Ringmann Fagerberg, Peter Nick Robinson, Stanislav Rosnev, Sabine Rudnik, Gorazd Rudolf, Ulrich Schatz, Anna Schossig, Max Schubach, Or Shanoon, Eamonn Sheridan, Pola Smirin-Yosef, Malte Spielmann, Eun-Kyung Suk, Yves Sznajer, Christian T Thiel, Gundula Thiel, Alain Verloes, Irena Vrecar, Dagmar Wahl, Ingrid Távora Weber, Korina Winter, Marzena Wiśniewska, Bernd Wollnik, Ming Wai Yeung, Max Zhao, Na Zhu, Johannes Zschocke, Stefan Mundlos, Denise Horn, Peter M Krawitz
PEDIA: prioritization of exome data by image analysis. Genetics in medicine : official journal of the American College of Medical Genetics 21 (12) (2019)
Katerina Kraft, Andreas Magg, Verena Heinrich, Christina Riemenschneider, Robert Schöpflin, Julia Markowski, Daniel M Ibrahim, Rocío Acuna-Hidalgo, Alexandra Despang, Guillaume Andrey, Lars Wittler, Bernd Timmermann, Martin Vingron, Stefan Mundlos
Serial genomic inversions induce tissue-specific architectural stripes, gene misexpression and congenital malformations. Nature cell biology 21 (3) (2019)
Alexandra Despang, Robert Schöpflin, Martin Franke, Salaheddine Ali, Ivana Jerkovic, Christina Paliou, Wing-Lee Chan, Bernd Timmermann, Lars Wittler, Martin Vingron, Stefan Mundlos, Daniel M Ibrahim
Functional dissection of the Sox9-Kcnj2 locus identifies nonessential and instructive roles of TAD architecture. Nature genetics 51 (8) (2019)
Simona Bianco, Darío G Lupiáñez, Andrea Maria Chiariello, Carlo Annunziatella, Katerina Kraft, Robert Schöpflin, Lars Wittler, Guillaume Andrey, Martin Vingron, Ana Pombo, Stefan Mundlos, Mario Nicodemi
Polymer physics predicts the effects of structural variants on chromatin architecture. Nature genetics 50 (5) (2018)
Bjørt K Kragesteen, Malte Spielmann, Christina Paliou, Verena Heinrich, Robert Schöpflin, Andrea Esposito, Carlo Annunziatella, Simona Bianco, Andrea M Chiariello, Ivana Jerkovic, Izabela Harabula, Philine Guckelberger, Michael Pechstein, Lars Wittler, Wing-Lee Chan, Martin Franke, Darío G Lupiáñez, Katerina Kraft, Bernd Timmermann, Martin Vingron, Axel Visel, Mario Nicodemi, Stefan Mundlos, Guillaume Andrey
Dynamic 3D chromatin architecture contributes to enhancer specificity and limb morphogenesis. Nature genetics 50 (10) (2018)
Guillaume Andrey, Stefan Mundlos
The three-dimensional genome: regulating gene expression during pluripotency and development. Development (Cambridge, England) 144 (20) (2017)
Anja J Will, Giulia Cova, Marco Osterwalder, Wing-Lee Chan, Lars Wittler, Norbert Brieske, Verena Heinrich, Jean-Pierre de Villartay, Martin Vingron, Eva Klopocki, Axel Visel, Darío G Lupiáñez, Stefan Mundlos
Composition and dosage of a multipartite enhancer cluster control developmental expression of Ihh (Indian hedgehog). Nature genetics 49 (10) (2017)