Marc Sturm

ORCID

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 42

Top Venues

Nature genetics

European journal of human genetics : EJHG

medRxiv : the preprint server for health sciences

Nature communications

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

Publications

Axel 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 Schuelke, 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 Sebastian Schäfer, Sarah Bernsen, Patrick Weydt, Sergio Castro-Gomez, Nasir Ahmad Aziz, Marcus Grobe-Einsler, Okka Kimmich, Xenia Kobeleva, Demet Önder, Hellen Lesmann, Sheetal Kumar, Pawel Tacik, Meghna Ahuja Basin, 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 Maria Christina 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 G Pauly, Alexander Münchau, Katja Lohmann, Irina Hüning, Britta Hanker, Tobias Bäumer, Rebecca Herzog, Yorck Hellenbroich, Dominik Sebastian Westphal, Tim Strom, Reka Kovacs, Korbinian Maria 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 H 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 Maria Nöthen, Olaf H Rieß, Thomas Meitinger, Heiko Krude, Peter M Krawitz, Tobias B Haack, Nadja Ehmke, Matias Wagner
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings. Nature genetics (2024)
Alexandra Baumann, Christian Ruckert, Christoph Meier, Tim Hutschenreiter, Robert Remy, Benedikt Schnur, Marvin Döbel, Rudel Christian Nkouamedjo Fankep, Dariush Skowronek, Oliver Kutz, Norbert Arnold, Anna-Lena Katzke, Michael Forster, Anna-Lena Kobiela, Katharina Thiedig, Andreas David Zimmer, Julia Ritter, Bernhard Heinrich Friedrich Weber, Ellen Honisch, Karl Hackmann, null null, Gunnar Schmidt, Marc Sturm, Corinna Ernst
Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci. European journal of human genetics : EJHG 32 (8) (2024)
Axel 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 Schuelke, 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 Sebastian Schäfer, Sarah Bernsen, Patrick Weydt, Sergio Castro-Gomez, Nasir Ahmad Aziz, Marcus Grobe-Einsler, Okka Kimmich, Xenia Kobeleva, Demet Önder, Hellen Lesmann, Sheetal Kumar, Pawel Tacik, Meghna Ahuja Basin, 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 Maria Christina 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 G Pauly, Alexander Münchau, Katja Lohmann, Irina Hüning, Britta Hanker, Tobias Bäumer, Rebecca Herzog, Yorck Hellenbroich, Dominik Sebastian Westphal, Tim Strom, Reka Kovacs, Korbinian Maria 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 H 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 Maria Nöthen, Olaf H Rieß, Thomas Meitinger, Heiko Krude, Peter M Krawitz, Tobias B Haack, Nadja Ehmke, Matias Wagner
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings. Nature genetics 56 (8) (2024)
Kornelia Ellwanger, Julie A Brill, Elke de Boer, Stephanie Efthymiou, Ype Elgersma, Marynelle Icmat, François Lecoquierre, Amanda G Lobato, Manuela Morleo, Michela Ori, Ashleigh E Schaffer, Antonio Vitobello, Sara Wells, Binnaz Yalcin, Rong Grace Zhai, Marc Sturm, Birte Zurek, Holm Graessner, Eva Bermejo-Sánchez, Teresinha Evangelista, Nicoline Hoogerbrugge, Vincenzo Nigro, Rebecca Schüle, Alain Verloes, Han Brunner, Philippe M Campeau, Paul Lasko, Olaf Riess
Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe). Lab animal 53 (7) (2024)
Lars Mohren, Friedrich Erdlenbruch, Elsa Leitão, Fabian Kilpert, Georg Sebastian Hönes, Sabine Kaya, Christopher Schröder, Andreas Thieme, Marc Sturm, Joohyun Park, Agatha Schlüter, Montserrat Ruiz, Moisés Morales de la Prida, Carlos Casasnovas, Kerstin Becker, Ulla Roggenbuck, Sonali Pechlivanis, Frank J Kaiser, Matthis Synofzik, Thomas Wirth, Mathieu Anheim, Tobias B Haack, Paul J Lockhart, Karl-Heinz Jöckel, Aurora Pujol, Stephan Klebe, Dagmar Timmann, Christel Depienne
Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions. Nature communications 15 (1) (2024)
Lucas Caldi Gomes, Sonja Hänzelmann, Fabian Hausmann, Robin Khatri, Sergio Oller, Mojan Parvaz, Laura Tzeplaeff, Laura Pasetto, Marie Gebelin, Melanie Ebbing, Constantin Holzapfel, Stefano Fabrizio Columbro, Serena Scozzari, Johanna Knöferle, Isabell Cordts, Antonia Franziska Demleitner, Marcus Deschauer, Claudia Dufke, Marc Sturm, Qihui Zhou, Pavol Zelina, Emma Sudria-Lopez, Tobias B Haack, Sebastian Streb, Magdalena Kuzma-Kozakiewicz, Dieter Edbauer, Ronald Jeroen Pasterkamp, Endre Laczko, Hubert Rehrauer, Ralph Schlapbach, Christine Carapito, Valentina Bonetto, Stefan Bonn, Paul Lingor
Multiomic ALS signatures highlight subclusters and sex differences suggesting the MAPK pathway as therapeutic target. Nature communications 15 (1) (2024)
Emil Karl Gustavsson, Jordan Follett, Joanne Trinh, Sandeep Kumar Barodia, Raquel Real, Zhiyong Liu, Melissa Grant-Peters, Jesse D Fox, Silke Appel-Cresswell, A Jon Stoessl, Alex Rajput, Ali H Rajput, Roland Auer, Russel Tilney, Marc Sturm, Tobias B Haack, Suzanne Lesage, Christelle Tesson, Alexis Brice, Carles Vilariño-Güell, Mina Ryten, Matthew S Goldberg, Andrew B West, Michele Tao-Ming Hu, Huw R Morris, Manu Sharma, Ziv Gan Or, Bedia Samanci, Pawel Lis, Maria Teresa Periñán, Rim Amouri, Samia Ben Sassi, Faycel Hentati, null null, Francesca Tonelli, Dario R Alessi, Matthew J Farrer
A pathogenic variant in RAB32 causes autosomal dominant Parkinson's disease and activates LRRK2 kinase . medRxiv : the preprint server for health sciences (2024)
Karla P Figueroa, Caspar Gross, Elena Buena-Atienza, Sharan Paul, Mandi Gandelman, Naseebullah Kakar, Marc Sturm, Nicolas Casadei, Jakob Admard, Joohyun Park, Christine Zühlke, Yorck Hellenbroich, Jelena Pozojevic, Saranya Balachandran, Kristian Händler, Simone Zittel, Dagmar Timmann, Friedrich Erdlenbruch, Laura Herrmann, Thomas Feindt, Martin Zenker, Florentine Radelfahr, Claudia Dufke, Daniel R Scoles, Arnulf Koeppen, Malte Spielmann, Olaf H Rieß, Stephan Ossowski, Tobias B Haack, Stefan M Pulst
A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy. Nature genetics 56 (6) (2024)
Joohyun Park, Marc Sturm, Olga Seibel-Kelemen, Stephan Ossowski, Tobias B Haack
Lessons Learned from Translating Genome Sequencing to Clinical Routine: Understanding the Accuracy of a Diagnostic Pipeline. Genes 15 (1) (2024)
Olaf H Rieß, Marc Sturm, Benita Menden, Alexandra Liebmann, German Demidov, Dennis Witt, Nicolas Casadei, Jakob Admard, Leon Schütz, Stephan Ossowski, Stacie L Taylor, Sven Schaffer, Christopher Schroeder, Andreas Dufke, Tobias Haack
Genomes in clinical care. NPJ genomic medicine 9 (1) (2024)
Asha Kishore, Marc Sturm, Kanchana Soman Pillai, Christopher Hakkaart, Divya Kalikavil Puthanveedu, Madhusoodanan Urulangodi, Syam Krishnan, Ashwin Ashok Kumar Sreelatha, Roopa Rajan, Pramod Kumar Pal, Ravi Yadav, Gangadhara Sarma, Nicolas Casadei, Thomas Gasser, Peter Bauer, Olaf Riess, Manu Sharma
Resequencing the complete SNCA locus in Indian patients with Parkinson's disease. NPJ Parkinson's disease 10 (1) (2024)
Emil Karl Gustavsson, Jordan Follett, Joanne Trinh, Sandeep Kumar Barodia, Raquel Real, Zhiyong Liu, Melissa Grant-Peters, Jesse D Fox, Silke Appel-Cresswell, A Jon Stoessl, Alex Rajput, Ali H Rajput, Roland Auer, Russel Tilney, Marc Sturm, Tobias B Haack, Suzanne Lesage, Christelle Tesson, Alexis Brice, Carles Vilariño-Güell, Mina Ryten, Matthew S Goldberg, Andrew B West, Michele Tao-Ming Hu, Huw R Morris, Manu Sharma, Ziv Gan Or, Bedia Samanci, Pawel Lis, Maria Teresa Periñán, Rim Amouri, Samia Ben Sassi, Faycel Hentati, null null, Francesca Tonelli, Dario R Alessi, Matthew J Farrer
A pathogenic variant in RAB32 causes autosomal dominant Parkinson's disease and activates LRRK2 kinase. medRxiv : the preprint server for health sciences (2024)
Lars Mohren, Friedrich Erdlenbruch, Elsa Leitão, Fabian Kilpert, Georg Sebastian Hönes, Sabine Kaya, Christopher Schröder, Andreas Thieme, Marc Sturm, Joohyun Park, Agatha Schlüter, Montserrat Ruiz, Moisés Morales de la Prida, Carlos Casasnovas, Kerstin Becker, Ulla Roggenbuck, Sonali Pechlivanis, Frank J Kaiser, Matthis Synofzik, Thomas Wirth, Mathieu Anheim, Tobias B Haack, Paul J Lockhart, Karl-Heinz Jöckel, Aurora Pujol, Stephan Klebe, Dagmar Timmann, Christel Depienne
Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions. Nature communications 15 (1) (2024)
Emil Karl Gustavsson, Jordan Follett, Joanne Trinh, Sandeep Kumar Barodia, Raquel Real, Zhiyong Liu, Melissa Grant-Peters, Jesse D Fox, Silke Appel-Cresswell, A Jon Stoessl, Alex Rajput, Ali H Rajput, Roland Auer, Russel Tilney, Marc Sturm, Tobias B Haack, Suzanne Lesage, Christelle Tesson, Alexis Brice, Carles Vilariño-Güell, Mina Ryten, Matthew S Goldberg, Andrew B West, Michele Tao-Ming Hu, Huw R Morris, Manu Sharma, Ziv Gan Or, Bedia Samanci, Pawel Lis, Maria Teresa Periñán, Rim Amouri, Samia Ben Sassi, Faycel Hentati, null null, Francesca Tonelli, Dario R Alessi, Matthew J Farrer
A pathogenic variant in RAB32 causes autosomal dominant Parkinson's disease and activates LRRK2 kinase. medRxiv : the preprint server for health sciences (2024)
Lucas Caldi Gomes, Sonja Hänzelmann, Fabian Hausmann, Robin Khatri, Sergio Oller, Mojan Parvaz, Laura Tzeplaeff, Laura Pasetto, Marie Gebelin, Melanie Ebbing, Constantin Holzapfel, Stefano Fabrizio Columbro, Serena Scozzari, Johanna Knöferle, Isabell Cordts, Antonia Franziska Demleitner, Marcus Deschauer, Claudia Dufke, Marc Sturm, Qihui Zhou, Pavol Zelina, Emma Sudria-Lopez, Tobias B Haack, Sebastian Streb, Magdalena Kuzma-Kozakiewicz, Dieter Edbauer, Ronald Jeroen Pasterkamp, Endre Laczko, Hubert Rehrauer, Ralph Schlapbach, Christine Carapito, Valentina Bonetto, Stefan Bonn, Paul Lingor
Multiomic ALS signatures highlight subclusters and sex differences suggesting the MAPK pathway as therapeutic target. Nature communications 15 (1) (2024)
Joohyun Park, Marc Sturm, Olga Seibel-Kelemen, Stephan Ossowski, Tobias B Haack
Lessons Learned from Translating Genome Sequencing to Clinical Routine: Understanding the Accuracy of a Diagnostic Pipeline. Genes 15 (1) (2024)
Karla P Figueroa, Caspar Gross, Elena Buena-Atienza, Sharan Paul, Mandi Gandelman, Naseebullah Kakar, Marc Sturm, Nicolas Casadei, Jakob Admard, Joohyun Park, Christine Zühlke, Yorck Hellenbroich, Jelena Pozojevic, Saranya Balachandran, Kristian Händler, Simone Zittel, Dagmar Timmann, Friedrich Erdlenbruch, Laura Herrmann, Thomas Feindt, Martin Zenker, Florentine Radelfahr, Claudia Dufke, Daniel R Scoles, Arnulf Koeppen, Malte Spielmann, Olaf H Rieß, Stephan Ossowski, Tobias B Haack, Stefan M Pulst
A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy. Nature genetics 56 (6) (2024)
Emil Karl Gustavsson, Jordan Follett, Joanne Trinh, Sandeep Kumar Barodia, Raquel Real, Zhiyong Liu, Melissa Grant-Peters, Jesse D Fox, Silke Appel-Cresswell, A Jon Stoessl, Alex Rajput, Ali H Rajput, Roland Auer, Russel Tilney, Marc Sturm, Tobias B Haack, Suzanne Lesage, Christelle Tesson, Alexis Brice, Carles Vilariño-Güell, Mina Ryten, Matthew S Goldberg, Andrew B West, Michele Tao-Ming Hu, Huw R Morris, Manu Sharma, Ziv Gan Or, Bedia Samanci, Pawel Lis, Maria Teresa Periñán, Rim Amouri, Samia Ben Sassi, Faycel Hentati, null null, Francesca Tonelli, Dario R Alessi, Matthew J Farrer
A pathogenic variant in RAB32 causes autosomal dominant Parkinson's disease and activates LRRK2 kinase. medRxiv : the preprint server for health sciences (2024)
Olaf H Rieß, Marc Sturm, Benita Menden, Alexandra Liebmann, German Demidov, Dennis Witt, Nicolas Casadei, Jakob Admard, Leon Schütz, Stephan Ossowski, Stacie L Taylor, Sven Schaffer, Christopher Schroeder, Andreas Dufke, Tobias Haack
Genomes in clinical care. NPJ genomic medicine 9 (1) (2024)
Alexandra Baumann, Christian Ruckert, Christoph Meier, Tim Hutschenreiter, Robert Remy, Benedikt Schnur, Marvin Döbel, Rudel Christian Nkouamedjo Fankep, Dariush Skowronek, Oliver Kutz, Norbert Arnold, Anna-Lena Katzke, Michael Forster, Anna-Lena Kobiela, Katharina Thiedig, Andreas David Zimmer, Julia Ritter, Bernhard Heinrich Friedrich Weber, Ellen Honisch, Karl Hackmann, null null, Gunnar Schmidt, Marc Sturm, Corinna Ernst
Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci. European journal of human genetics : EJHG (2024)
Axel 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 Schuelke, 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 Sebastian Schäfer, Sarah Bernsen, Patrick Weydt, Sergio Castro-Gomez, Nasir Ahmad Aziz, Marcus Grobe-Einsler, Okka Kimmich, Xenia Kobeleva, Demet Önder, Hellen Lesmann, Sheetal Kumar, Pawel Tacik, Meghna Ahuja Basin, 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 Maria Christina 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 G Pauly, Alexander Münchau, Katja Lohmann, Irina Hüning, Britta Hanker, Tobias Bäumer, Rebecca Herzog, Yorck Hellenbroich, Dominik Sebastian Westphal, Tim Strom, Reka Kovacs, Korbinian Maria 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 H 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 Maria Nöthen, Olaf H Rieß, Thomas Meitinger, Heiko Krude, Peter M Krawitz, Tobias B Haack, Nadja Ehmke, Matias Wagner
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings. Nature genetics 56 (8) (2024)
Alexandra Baumann, Christian Ruckert, Christoph Meier, Tim Hutschenreiter, Robert Remy, Benedikt Schnur, Marvin Döbel, Rudel Christian Nkouamedjo Fankep, Dariush Skowronek, Oliver Kutz, Norbert Arnold, Anna-Lena Katzke, Michael Forster, Anna-Lena Kobiela, Katharina Thiedig, Andreas David Zimmer, Julia Ritter, Bernhard Heinrich Friedrich Weber, Ellen Honisch, Karl Hackmann, null null, Gunnar Schmidt, Marc Sturm, Corinna Ernst
Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci. European journal of human genetics : EJHG 32 (8) (2024)
Axel 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 Schuelke, 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 Sebastian Schäfer, Sarah Bernsen, Patrick Weydt, Sergio Castro-Gomez, Nasir Ahmad Aziz, Marcus Grobe-Einsler, Okka Kimmich, Xenia Kobeleva, Demet Önder, Hellen Lesmann, Sheetal Kumar, Pawel Tacik, Meghna Ahuja Basin, 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 Maria Christina 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 G Pauly, Alexander Münchau, Katja Lohmann, Irina Hüning, Britta Hanker, Tobias Bäumer, Rebecca Herzog, Yorck Hellenbroich, Dominik Sebastian Westphal, Tim Strom, Reka Kovacs, Korbinian Maria 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 H 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 Maria Nöthen, Olaf H Rieß, Thomas Meitinger, Heiko Krude, Peter M Krawitz, Tobias B Haack, Nadja Ehmke, Matias Wagner
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings. Nature genetics 56 (8) (2024)
Kornelia Ellwanger, Julie A Brill, Elke de Boer, Stephanie Efthymiou, Ype Elgersma, Marynelle Icmat, François Lecoquierre, Amanda G Lobato, Manuela Morleo, Michela Ori, Ashleigh E Schaffer, Antonio Vitobello, Sara Wells, Binnaz Yalcin, Rong Grace Zhai, Marc Sturm, Birte Zurek, Holm Graessner, Eva Bermejo-Sánchez, Teresinha Evangelista, Nicoline Hoogerbrugge, Vincenzo Nigro, Rebecca Schüle, Alain Verloes, Han Brunner, Philippe M Campeau, Paul Lasko, Olaf Riess
Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe). Lab animal 53 (7) (2024)
Karla P Figueroa, Caspar Gross, Elena Buena-Atienza, Sharan Paul, Mandi Gandelman, Naseebullah Kakar, Marc Sturm, Nicolas Casadei, Jakob Admard, Joohyun Park, Christine Zühlke, Yorck Hellenbroich, Jelena Pozojevic, Saranya Balachandran, Kristian Händler, Simone Zittel, Dagmar Timmann, Friedrich Erdlenbruch, Laura Herrmann, Thomas Feindt, Martin Zenker, Florentine Radelfahr, Claudia Dufke, Daniel R Scoles, Arnulf Koeppen, Malte Spielmann, Olaf H Rieß, Stephan Ossowski, Tobias B Haack, Stefan M Pulst
A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy. Nature genetics (2024)
Joohyun Park, Marc Sturm, Olga Seibel-Kelemen, Stephan Ossowski, Tobias B Haack
Lessons Learned from Translating Genome Sequencing to Clinical Routine: Understanding the Accuracy of a Diagnostic Pipeline. Genes 15 (1) (2024)
Karla P Figueroa, Caspar Gross, Elena Buena-Atienza, Sharan Paul, Mandi Gandelman, Naseebullah Kakar, Marc Sturm, Nicolas Casadei, Jakob Admard, Joohyun Park, Christine Zühlke, Yorck Hellenbroich, Jelena Pozojevic, Saranya Balachandran, Kristian Händler, Simone Zittel, Dagmar Timmann, Friedrich Erdlenbruch, Laura Herrmann, Thomas Feindt, Martin Zenker, Florentine Radelfahr, Claudia Dufke, Daniel R Scoles, Arnulf Koeppen, Malte Spielmann, Olaf H Rieß, Stephan Ossowski, Tobias B Haack, Stefan M Pulst
A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy. Nature genetics 56 (6) (2024)
Lucas Caldi Gomes, Sonja Hänzelmann, Fabian Hausmann, Robin Khatri, Sergio Oller, Mojan Parvaz, Laura Tzeplaeff, Laura Pasetto, Marie Gebelin, Melanie Ebbing, Constantin Holzapfel, Stefano Fabrizio Columbro, Serena Scozzari, Johanna Knöferle, Isabell Cordts, Antonia Franziska Demleitner, Marcus Deschauer, Claudia Dufke, Marc Sturm, Qihui Zhou, Pavol Zelina, Emma Sudria-Lopez, Tobias B Haack, Sebastian Streb, Magdalena Kuzma-Kozakiewicz, Dieter Edbauer, Ronald Jeroen Pasterkamp, Endre Laczko, Hubert Rehrauer, Ralph Schlapbach, Christine Carapito, Valentina Bonetto, Stefan Bonn, Paul Lingor
Multiomic ALS signatures highlight subclusters and sex differences suggesting the MAPK pathway as therapeutic target. Nature communications 15 (1) (2024)
Asha Kishore, Marc Sturm, Kanchana Soman Pillai, Christopher Hakkaart, Divya Kalikavil Puthanveedu, Madhusoodanan Urulangodi, Syam Krishnan, Ashwin Ashok Kumar Sreelatha, Roopa Rajan, Pramod Kumar Pal, Ravi Yadav, Gangadhara Sarma, Nicolas Casadei, Thomas Gasser, Peter Bauer, Olaf Riess, Manu Sharma
Resequencing the complete SNCA locus in Indian patients with Parkinson's disease. NPJ Parkinson's disease 10 (1) (2024)
Joohyun Park, Marc Sturm, Olga Seibel-Kelemen, Stephan Ossowski, Tobias B Haack
Lessons Learned from Translating Genome Sequencing to Clinical Routine: Understanding the Accuracy of a Diagnostic Pipeline. Genes 15 (1) (2024)
Emil Karl Gustavsson, Jordan Follett, Joanne Trinh, Sandeep Kumar Barodia, Raquel Real, Zhiyong Liu, Melissa Grant-Peters, Jesse D Fox, Silke Appel-Cresswell, A Jon Stoessl, Alex Rajput, Ali H Rajput, Roland Auer, Russel Tilney, Marc Sturm, Tobias B Haack, Suzanne Lesage, Christelle Tesson, Alexis Brice, Carles Vilariño-Güell, Mina Ryten, Matthew S Goldberg, Andrew B West, Michele Tao-Ming Hu, Huw R Morris, Manu Sharma, Ziv Gan Or, Bedia Samanci, Pawel Lis, Maria Teresa Periñán, Rim Amouri, Samia Ben Sassi, Faycel Hentati, null null, Francesca Tonelli, Dario R Alessi, Matthew J Farrer
A pathogenic variant in RAB32 causes autosomal dominant Parkinson's disease and activates LRRK2 kinase. medRxiv : the preprint server for health sciences (2024)
Alexandra Baumann, Christian Ruckert, Christoph Meier, Tim Hutschenreiter, Robert Remy, Benedikt Schnur, Marvin Döbel, Rudel Christian Nkouamedjo Fankep, Dariush Skowronek, Oliver Kutz, Norbert Arnold, Anna-Lena Katzke, Michael Forster, Anna-Lena Kobiela, Katharina Thiedig, Andreas David Zimmer, Julia Ritter, Bernhard Heinrich Friedrich Weber, Ellen Honisch, Karl Hackmann, null null, Gunnar Schmidt, Marc Sturm, Corinna Ernst
Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci. European journal of human genetics : EJHG 32 (8) (2024)
Asha Kishore, Marc Sturm, Kanchana Soman Pillai, Christopher Hakkaart, Divya Kalikavil Puthanveedu, Madhusoodanan Urulangodi, Syam Krishnan, Ashwin Ashok Kumar Sreelatha, Roopa Rajan, Pramod Kumar Pal, Ravi Yadav, Gangadhara Sarma, Nicolas Casadei, Thomas Gasser, Peter Bauer, Olaf Riess, Manu Sharma
Resequencing the complete SNCA locus in Indian patients with Parkinson's disease. NPJ Parkinson's disease 10 (1) (2024)
Kornelia Ellwanger, Julie A Brill, Elke de Boer, Stephanie Efthymiou, Ype Elgersma, Marynelle Icmat, François Lecoquierre, Amanda G Lobato, Manuela Morleo, Michela Ori, Ashleigh E Schaffer, Antonio Vitobello, Sara Wells, Binnaz Yalcin, Rong Grace Zhai, Marc Sturm, Birte Zurek, Holm Graessner, Eva Bermejo-Sánchez, Teresinha Evangelista, Nicoline Hoogerbrugge, Vincenzo Nigro, Rebecca Schüle, Alain Verloes, Han Brunner, Philippe M Campeau, Paul Lasko, Olaf Riess
Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe). Lab animal (2024)
Alexandra Baumann, Christian Ruckert, Christoph Meier, Tim Hutschenreiter, Robert Remy, Benedikt Schnur, Marvin Döbel, Rudel Christian Nkouamedjo Fankep, Dariush Skowronek, Oliver Kutz, Norbert Arnold, Anna-Lena Katzke, Michael Forster, Anna-Lena Kobiela, Katharina Thiedig, Andreas David Zimmer, Julia Ritter, Bernhard Heinrich Friedrich Weber, Ellen Honisch, Karl Hackmann, null null, Gunnar Schmidt, Marc Sturm, Corinna Ernst
Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci. European journal of human genetics : EJHG 32 (8) (2024)
Karla P Figueroa, Caspar Gross, Elena Buena-Atienza, Sharan Paul, Mandi Gandelman, Naseebullah Kakar, Marc Sturm, Nicolas Casadei, Jakob Admard, Joohyun Park, Christine Zühlke, Yorck Hellenbroich, Jelena Pozojevic, Saranya Balachandran, Kristian Händler, Simone Zittel, Dagmar Timmann, Friedrich Erdlenbruch, Laura Herrmann, Thomas Feindt, Martin Zenker, Florentine Radelfahr, Claudia Dufke, Daniel R Scoles, Arnulf Koeppen, Malte Spielmann, Olaf H Rieß, Stephan Ossowski, Tobias B Haack, Stefan M Pulst
A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy. Nature genetics (2024)
Kornelia Ellwanger, Julie A Brill, Elke de Boer, Stephanie Efthymiou, Ype Elgersma, Marynelle Icmat, François Lecoquierre, Amanda G Lobato, Manuela Morleo, Michela Ori, Ashleigh E Schaffer, Antonio Vitobello, Sara Wells, Binnaz Yalcin, Rong Grace Zhai, Marc Sturm, Birte Zurek, Holm Graessner, Eva Bermejo-Sánchez, Teresinha Evangelista, Nicoline Hoogerbrugge, Vincenzo Nigro, Rebecca Schüle, Alain Verloes, Han Brunner, Philippe M Campeau, Paul Lasko, Olaf Riess
Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe). Lab animal 53 (7) (2024)
Asha Kishore, Marc Sturm, Kanchana Soman Pillai, Christopher Hakkaart, Divya Kalikavil Puthanveedu, Madhusoodanan Urulangodi, Syam Krishnan, Ashwin Ashok Kumar Sreelatha, Roopa Rajan, Pramod Kumar Pal, Ravi Yadav, Gangadhara Sarma, Nicolas Casadei, Thomas Gasser, Peter Bauer, Olaf Riess, Manu Sharma
Resequencing the complete SNCA locus in Indian patients with Parkinson's disease. NPJ Parkinson's disease 10 (1) (2024)
Christopher Schroeder, Ulrike Faust, Luisa Krauße, Alexandra Liebmann, Michael Ost, German Demidov, Leon Schütz, Olga Kelemen, Alexandra Pohle, Silja Gauß, Marc Sturm, Cristiana Roggia, Monika Streiter, Rebecca Buchert, Sorin Armenau-Ebinger, Dominik Nann, Rudi Beschorner, Rupert Handgretinger, Martin Ebinger, Peter Lang, Ursula Holzer, Julia Skokowa, Stephan Ossowski, Tobias B Haack, Ulrike A Mau-Holzmann, Andreas Dufke, Olaf Riess, Ines B Brecht
Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in paediatric tumour patients. European journal of human genetics : EJHG (2023)
Erika Souche, Sergi Beltran, Erwin Brosens, John W Belmont, Magdalena Fossum, Olaf Riess, Christian Gilissen, Amin Ardeshirdavani, Gunnar Houge, Marielle E van Gijn, Jill Clayton-Smith, Matthis Synofzik, Nicole de Leeuw, Zandra C Deans, Yasemin Dincer, Sebastian H Eck, Saskia van der Crabben, Meena Balasubramanian, Holm Graessner, Marc Sturm, Helen Firth, Alessandra Ferlini, Rima Nabbout, Elfride De Baere, Thomas Liehr, Milan Macek, Gert Matthijs, Hans Scheffer, Peter Bauer, Helger G Yntema, Janneke M Weiss
Recommendations for whole genome sequencing in diagnostics for rare diseases. European journal of human genetics : EJHG 30 (9) (2022)
Rebecca Buchert, Elisabeth Schenk, Thomas Hentrich, Nico Weber, Kristin Katharina Rall, Marc Sturm, Oliver Kohlbacher, André Koch, Olaf H Rieß, Sara Yvonne Brucker, Julia M Schulze-Hentrich
Genome Sequencing and Transcriptome Profiling in Twins Discordant for Mayer-Rokitansky-Küster-Hauser Syndrome. Journal of clinical medicine 11 (19) (2022)
Sylke Singer, Anastasia Gazou, Marc Sturm, German Demidov, Pascale Mazzola, Olaf Riess, Stephan Ossowski, Andreas Dufke
New euchromatic variant dup(11)(p15.3p15.1) transmitted through two generations defined by low coverage whole genome sequencing. American journal of medical genetics. Part A 185 (10) (2021)

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Marc Sturm