Manuel Holtgrewe

ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 15

Top Venues

Human genetics

Nucleic acids research

Journal of inherited metabolic disease

Journal of cardiovascular development and disease

Berlin Institute of Health

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

Affiliation History

Berlin Institute of Health

Germany

Bioinformatician :: Core Unit Bioinformatics

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)
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, Manuel Holtgrewe
REEV: review, evaluate and explain variants. Nucleic acids research 52 (W1) (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)
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, Manuel Holtgrewe
REEV: review, evaluate and explain variants. Nucleic acids research 52 (W1) (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, Manuel Holtgrewe
REEV: review, evaluate and explain variants. Nucleic acids research (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)
Mikko Nieminen, Oliver Stolpe, Mathias Kuhring, January Mikolaj Weiner, Jan Patrick Pett, Dieter Beule, Manuel Holtgrewe
SODAR: managing multiomics study data and metadata. GigaScience 12 (2023)
Vinzenz May, Leonard Koch, Björn Fischer-Zirnsak, Denise Horn, Petra Gehle, Uwe Kornak, Dieter Beule, Manuel Holtgrewe
ClearCNV: CNV calling from NGS panel data in the presence of ambiguity and noise. Bioinformatics (Oxford, England) 38 (16) (2022)
Franziska Seidel, Kai Thorsten Laser, Karin Klingel, Josephine Dartsch, Simon Theisen, Thomas Pickardt, Manuel Holtgrewe, Anna Gaertner, Felix Berger, Dieter Beule, Andreas Brodehl, Stephan Schubert, Sabine Klaassen, Jirko Kühnisch
Pathogenic Variants in Cardiomyopathy Disorder Genes Underlie Pediatric Myocarditis-Further Impact of Heterozygous Immune Disorder Gene Variants? Journal of cardiovascular development and disease 9 (7) (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)
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)
Jirko Kühnisch, Christopher Herbst, Nadya Al-Wakeel-Marquard, Josephine Dartsch, Manuel Holtgrewe, Anwar Baban, Giulia Mearini, Juliane Hardt, Konstantinos Kolokotronis, Brenda Gerull, Lucie Carrier, Dieter Beule, Stephan Schubert, Daniel R Messroghli, Franziska Degener, Felix Berger, Sabine Klaassen
Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3. Clinical genetics 96 (6) (2019)

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Publication Activity (10 Years)

Top Topics

Top Venues

Manuel Holtgrewe