Martin Kircher

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2014-2024
Publications (10 Years): 30

Top Venues

Nature

GigaScience

Nature protocols

bioRxiv : the preprint server for biology

Charité Universitätsmedizin Berlin

Universität des Saarlandes (MSC)

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

Affiliation History

Charité Universitätsmedizin Berlin Jan 01 2019

Germany

JRG group leader :: Berlin Institute of Health

Berlin Institute of Health Mar 01 2017

Germany

Group Leader :: JRG Computational Genome Biology

University of Washington Apr 01 2012 - Feb 28 2017

United States

Senior Research Fellow :: Genome Sciences

Max Planck Institute for Evolutionary Anthropology Sep 01 2007 - Mar 31 2012

Germany

PhD student, later Research Scientist :: Department of Evolutionary Genetics

Education History

Universität des Saarlandes Apr 01 2006 - Jul 31 2007

Germany

MSC :: Computational Molecular Biology

Universität des Saarlandes Oct 01 2003 - Mar 31 2006

Germany

BSC :: Computational Molecular Biology

Publications

Max Schubach, Thorben Maass, Lusiné Nazaretyan, Sebastian Röner, Martin Kircher
CADD v1.7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions. Nucleic acids research 52 (D1) (2024)
Max Schubach, Thorben Maass, Lusiné Nazaretyan, Sebastian Röner, Martin Kircher
CADD v1.7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions. Nucleic acids research 52 (D1) (2024)
Navneet Matharu, Jingjing Zhao, Ajuni Sohota, Linbei Deng, Yan Hung, Zizheng Li, Jasmine Sims, Sawitree Rattanasopha, Josh Meyer, Lucia Carbone, Martin Kircher, Nadav Ahituv
Massively parallel jumping assay decodes Alu retrotransposition activity. bioRxiv : the preprint server for biology (2024)
Navneet Matharu, Jingjing Zhao, Ajuni Sohota, Linbei Deng, Yan Hung, Zizheng Li, Jasmine Sims, Sawitree Rattanasopha, Josh Meyer, Lucia Carbone, Martin Kircher, Nadav Ahituv
Massively parallel jumping assay decodes Alu retrotransposition activity. bioRxiv : the preprint server for biology (2024)
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)
Vikram Agarwal, Fumitaka Inoue, Max Schubach, Beth K Martin, Pyaree Mohan Dash, Zicong Zhang, Ajuni Sohota, William Stafford Noble, Galip Gürkan Yardimci, Martin Kircher, Jay Shendure, Nadav Ahituv
Massively parallel characterization of transcriptional regulatory elements in three diverse human cell types. bioRxiv : the preprint server for biology (2023)
Max Schubach, Lusiné Nazaretyan, Martin Kircher
The Regulatory Mendelian Mutation score for GRCh38. GigaScience 12 (2023)
Max Schubach, Lusiné Nazaretyan, Martin Kircher
The Regulatory Mendelian Mutation score for GRCh38. GigaScience 12 (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)
Max Schubach, Lusiné Nazaretyan, Martin Kircher
The Regulatory Mendelian Mutation score for GRCh38. GigaScience 12 (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)
Max Schubach, Lusiné Nazaretyan, Martin Kircher
The Regulatory Mendelian Mutation score for GRCh38. GigaScience 12 (2023)
Benjamin Spiegl, Faruk Kapidzic, Sebastian Röner, Martin Kircher, Michael R Speicher
GCparagon: evaluating and correcting GC biases in cell-free DNA at the fragment level. NAR genomics and bioinformatics 5 (4) (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 614 (7948) (2023)
Max Schubach, Lusiné Nazaretyan, Martin Kircher
The Regulatory Mendelian Mutation score for GRCh38. GigaScience 12 (2023)
Jill M Johnsen, Shelley N Fletcher, Angela Dove, Haley McCracken, Beth K Martin, Martin Kircher, Neil C Josephson, Jay Shendure, Sarah E Ruuska, Leonard A Valentino, Glenn F Pierce, Crystal Watson, Dunlei Cheng, Michael Recht, Barbara A Konkle
Results of genetic analysis of 11 341 participants enrolled in the My Life, Our Future hemophilia genotyping initiative in the United States. Journal of thrombosis and haemostasis : JTH 20 (9) (2022)
Philip Kleinert, Martin Kircher
A framework to score the effects of structural variants in health and disease. Genome research 32 (4) (2022)
Malte Spielmann, Martin Kircher
Computational and experimental methods for classifying variants of unknown clinical significance. Cold Spring Harbor molecular case studies 8 (3) (2022)
Philipp Rentzsch, Max Schubach, Jay Shendure, Martin Kircher
CADD-Splice-improving genome-wide variant effect prediction using deep learning-derived splice scores. Genome medicine 13 (1) (2021)
Louisa-Marie Kruetzfeldt, Max Schubach, Martin Kircher
The impact of different negative training data on regulatory sequence predictions. PloS one 15 (12) (2020)
Jason C Klein, Vikram Agarwal, Fumitaka Inoue, Aidan Keith, Beth Martin, Martin Kircher, Nadav Ahituv, Jay Shendure
A systematic evaluation of the design and context dependencies of massively parallel reporter assays. Nature methods 17 (11) (2020)
M Grace Gordon, Fumitaka Inoue, Beth Martin, Max Schubach, Vikram Agarwal, Sean Whalen, Shiyun Feng, Jingjing Zhao, Tal Ashuach, Ryan Ziffra, Anat Kreimer, Ilias Georgakopoulos-Soares, Nir Yosef, Chun Jimmie Ye, Katherine S Pollard, Jay Shendure, Martin Kircher, Nadav Ahituv
lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements. Nature protocols 15 (8) (2020)
M Grace Gordon, Fumitaka Inoue, Beth Martin, Max Schubach, Vikram Agarwal, Sean Whalen, Shiyun Feng, Jingjing Zhao, Tal Ashuach, Ryan Ziffra, Anat Kreimer, Ilias Georgakopoulos-Soares, Nir Yosef, Chun Jimmie Ye, Katherine S Pollard, Jay Shendure, Martin Kircher, Nadav Ahituv
Author Correction: lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements. Nature protocols (2020)
Philip Kleinert, Beth K Martin, Martin Kircher
HemoMIPs-Automated analysis and result reporting pipeline for targeted sequencing data. PLoS computational biology 16 (6) (2020)
Martin Kircher, Chenling Xiong, Beth K Martin, Max Schubach, Fumitaka Inoue, Robert J A Bell, Joseph F Costello, Jay Shendure, Nadav Ahituv
Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution. Nature communications 10 (1) (2019)
Kenneth A Matreyek, Lea M Starita, Jason J Stephany, Beth K Martin, Melissa A Chiasson, Vanessa E Gray, Martin Kircher, Arineh Khechaduri, Jennifer N Dines, Ronald J Hause, Smita Bhatia, Williams E Evans, Mary V Relling, Wenjian Yang, Jay Shendure, Douglas M Fowler
Multiplex assessment of protein variant abundance by massively parallel sequencing. Nature genetics 50 (6) (2018)
Fumitaka Inoue, Martin Kircher, Beth K Martin, Gregory M Cooper, Daniela M Witten, Michael T McManus, Nadav Ahituv, Jay Shendure
A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity. Genome research 27 (1) (2016)
Martin Kircher, Jay Shendure
Running spell-check to identify regulatory variants. Nature genetics 47 (8) (2015)
Martin Kircher, Daniela M Witten, Preti Jain, Brian J O'Roak, Gregory M Cooper, Jay Shendure
A general framework for estimating the relative pathogenicity of human genetic variants. Nature genetics 46 (3) (2014)
Mikkel Schubert, Luca Ermini, Clio Der Sarkissian, Hákon Jónsson, Aurélien Ginolhac, Robert Schaefer, Michael D Martin, Ruth Fernández, Martin Kircher, Molly McCue, Eske Willerslev, Ludovic Orlando
Characterization of ancient and modern genomes by SNP detection and phylogenomic and metagenomic analysis using PALEOMIX. Nature protocols 9 (5) (2014)

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Publication Activity (10 Years)

Top Topics

Top Venues

Martin Kircher