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Peter M Krawitz (Peter Krawitz)

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2018-2023
Publications (10 Years): 17

Top Venues

American journal of medical genetics. Part A

NAR genomics and bioinformatics

Human mutation

medRxiv : the preprint server for health sciences

Rheinische Friedrich Wilhelms Universität Bonn

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

Affiliation History

Rheinische Friedrich Wilhelms Universität Bonn Sep 1o 2017

Germany

Head :: Institute for Genomic Statistics and Bioinformatics

Publications

Frédéric Ebstein, Sébastien Küry, Victoria Most, Cory Scott Rosenfelt, Marie-Pier Scott-Boyer, Geeske M van Woerden, Thomas Besnard, Jonas Johannes Papendorf, Maja Studencka-Turski, Tianyun Wang, Tzung-Chien Hsieh, Richard Golnik, Dustin Baldridge, Cara Forster, Charlotte de Konink, Selina M W Teurlings, Virginie Vignard, Richard H van Jaarsveld, Lesley Ades, Benjamin Cogné, Cyril Mignot, Wallid Deb, Marjolijn C J Jongmans, F Sessions Cole, Marie-José H van den Boogaard, Jennifer A Wambach, Daniel J Wegner, Sandra Yang, Vickie Hannig, Jennifer Ann Brault, Neda Zadeh, Bruce Bennetts, Boris Keren, Anne-Claire Gélineau, Zöe Powis, Meghan C Towne, Kristine Bachman, Andrea Seeley, Anita E Beck, Jennifer Morrison, Rachel Westman, Kelly Averill, Theresa Brunet, Judith Haasters, Melissa T Carter, Matthew Osmond, Patricia G Wheeler, Francesca Forzano, Shehla Mohammed, Yannis Trakadis, Andrea Accogli, Rachel Harrison, Yiran Guo, Hakon H Hakonarson, Sophie Rondeau, Geneviève Baujat, Giulia Barcia, René Günther Feichtinger, Johannes Adalbert Mayr, Martin Preisel, Frederic Laumonnier, Tilmann Kallinich, Alexej Knaus, Bertrand Isidor, Peter M Krawitz, Uwe Völker, Elke Hammer, Arnaud Droit, Evan E Eichler, Ype Elgersma, Peter W Hildebrand, Francois V Bolduc, Elke Krüger, Stéphane Bézieau
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production. Science translational medicine 15 (698) (2023)
Dat Duong, Anna Rose Johny, Suzanna Ledgister Hanchard, Chris Fortney, Fabio Hellmann, Ping Hu, Behnam Javanmardi, Shahida Moosa, Tanviben Patel, Susan Persky, Ömer Sümer, Cedrik Tekendo-Ngongang, Tzung-Chien Hsieh, Rebekah L Waikel, Elisabeth André, Peter M Krawitz, Benjamin D Solomon
Human and computer attention in assessing genetic conditions. medRxiv : the preprint server for health sciences (2023)
Sebastian Rassmann, Alexandra Keller, Kyra Skaf, Alexander Hustinx, Ruth Gausche, Miguel A Ibarra-Arrelano, Tzung-Chien Hsieh, Yolande E D Madajieu, Markus Maria Nöthen, Roland Pfäffle, Ulrike I Attenberger, Mark Born, Klaus Mohnike, Peter M Krawitz, Behnam Javanmardi
Deeplasia: deep learning for bone age assessment validated on skeletal dysplasias. Pediatric radiology (2023)
Luis A La Rocca, Julia Frank, Heidi Beate Bentzen, Jean Tori Pantel, Konrad Gerischer, Peter M Krawitz, Anton Bovier
Understanding recessive disease risk in multi-ethnic populations with different degrees of consanguinity. American journal of medical genetics. Part A (2023)
Fabian Brand, Aswinkumar Vijayananth, Tzung-Chien Hsieh, Axel Schmidt, Sophia Peters, Elisabeth Mangold, Kirsten Cremer, Tim Bender, Sugirthan Sivalingam, Hela Hundertmark, Alexej Knaus, Hartmut Engels, Peter M Krawitz, Claudia Perne
Next-generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen-de Vries syndrome. Human mutation 43 (11) (2022)
Florian Uellendahl-Werth, Carlo Maj, Oleg Borisov, Simonas Juzenas, Eike Matthias Wacker, Isabella Friis Jørgensen, Tim Alexander Steiert, Saptarshi Bej, Peter M Krawitz, Per Hoffmann, Christoph Schramm, Olaf Wolkenhauer, Karina Banasik, Soren Brunak, Stefan Schreiber, Tom Hemming Karlsen, Franziska Degenhardt, Markus Maria Nöthen, Andre Franke, Trine Folseraas, David Ellinghaus
Cross-tissue transcriptome-wide association studies identify susceptibility genes shared between schizophrenia and inflammatory bowel disease. Communications biology 5 (1) (2022)
Rana Aldisi, Emadeldin Hassanin, Sugirthan Sivalingam, Andreas Buness, Hannah Klinkhammer, Andreas Mayr, Holger Fröhlich, Peter M Krawitz, Carlo Maj
GenRisk: a tool for comprehensive genetic risk modeling. Bioinformatics (Oxford, England) 38 (9) (2022)
Benjamin D Solomon, Margaret P Adam, Chin-To Fong, Katta Mohan Girisha, Judith G Hall, Anna C E Hurst, Peter M Krawitz, Shahida Moosa, Shubha Rao Phadke, Cedrik Tekendo-Ngongang, Tara L Wenger
Perspectives on the future of dysmorphology. American journal of medical genetics. Part A (2022)
Tzung-Chien Hsieh, Aviram Bar-Haim, Shahida Moosa, Nadja Ehmke, Karen W Gripp, Jean Tori Pantel, Magdalena Danyel, Martin Atta Mensah, Denise Horn, Stanislav Rosnev, Nicole Fleischer, Guilherme Bonini, Alexander Hustinx, Alexander Schmid, Alexej Knaus, Behnam Javanmardi, Hannah Klinkhammer, Hellen Lesmann, Sugirthan Sivalingam, Tom Kamphans, Wolfgang Meiswinkel, Frédéric Ebstein, Elke Krüger, Sébastien Küry, Stéphane Bézieau, Axel Schmidt, Sophia Peters, Hartmut Engels, Elisabeth Mangold, Martina Kreiß, Kirsten Cremer, Claudia Perne, Regina C Betz, Tim Bender, Kathrin Grundmann-Hauser, Tobias B Haack, Matias Wagner, Theresa Brunet, Heidi Beate Bentzen, Luisa Averdunk, Kimberly Christine Coetzer, Gholson J Lyon, Malte Spielmann, Christian P Schaaf, Stefan Mundlos, Markus Maria Nöthen, Peter M Krawitz
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors. Nature genetics 54 (3) (2022)
Chengyao Peng, Simon Dieck, Alexander Schmid, Ashar Ahmad, Alexej Knaus, Maren Wenzel, Laura Mehnert, Birgit Zirn, Tobias Haack, Stephan Ossowski, Matias Wagner, Theresa Brunet, Nadja Ehmke, Magdalena Danyel, Stanislav Rosnev, Tom Kamphans, Guy Nadav, Nicole Fleischer, Holger Fröhlich, Peter M Krawitz
CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graph. NAR genomics and bioinformatics 3 (3) (2021)
Axel Schmidt, Sophia Peters, Alexej Knaus, Hemmen Sabir, Frauke Hamsen, Carlo Maj, Julia Fazaal, Sugirthan Sivalingam, Oleksandr Savchenko, Aakash Mantri, Dirk Holzinger, Ulrich Neudorf, Andreas Müller, Kerstin U Ludwig, Peter M Krawitz, Hartmut Engels, Markus Maria Nöthen, Soyhan Bagci
TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19. NPJ genomic medicine 6 (1) (2021)
Miguel Rodríguez de Los Santos, Marion Rivalan, Friederike S David, Alexander Stumpf, Julika Pitsch, Despina Tsortouktzidis, Laura Moreno Velasquez, Anne Voigt, Karl Schilling, Daniele Mattei, Melissa Long, Guido Vogt, Alexej Knaus, Björn Fischer-Zirnsak, Lars Wittler, Bernd Timmermann, Peter N Robinson, Denise Horn, Stefan Mundlos, Uwe Kornak, Albert J Becker, Dietmar Schmitz, York Winter, Peter M Krawitz
A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions. Proceedings of the National Academy of Sciences of the United States of America 118 (2) (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)
Max Zhao, Nanditha Mallesh, Alexander Höllein, Richard Schabath, Claudia Haferlach, Torsten Haferlach, Franz Elsner, Hannes Lüling, Peter M Krawitz, Wolfgang Kern
Hematologist-Level Classification of Mature B-Cell Neoplasm Using Deep Learning on Multiparameter Flow Cytometry Data. Cytometry. Part A : the journal of the International Society for Analytical Cytology 97 (10) (2020)
Yaron Gurovich, Yair Hanani, Omri Bar, Guy Nadav, Nicole Fleischer, Dekel Gelbman, Lina Basel-Salmon, Peter M Krawitz, Susanne B Kamphausen, Martin Zenker, Lynne M Bird, Karen W Gripp
Identifying facial phenotypes of genetic disorders using deep learning. Nature medicine 25 (1) (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)
Jean T Pantel, Max Zhao, Martin A Mensah, Nurulhuda Hajjir, Tzung-Chien Hsieh, Yair Hanani, Nicole Fleischer, Tom Kamphans, Stefan Mundlos, Yaron Gurovich, Peter M Krawitz
Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism. Journal of inherited metabolic disease 41 (3) (2018)

Peter M Krawitz.css-eqlu8i{font-size:small;padding-left:4px;} (Peter Krawitz)

Publication Activity (10 Years)

Top Topics

Top Venues

Peter M Krawitz (Peter Krawitz)