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77 results for Krawitz,+Peter

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Identifying facial phenotypes of genetic disorders using deep learning
Author / Creator:Gurovich, Yaron ; Hanani, Yair ; Bar, Omri ; Nadav, Guy ; Fleischer, Nicole ; Gelbman, Dekel ; Basel-Salmon, Lina ; Krawitz, Peter M. ; Kamphausen, Susanne B. ; Zenker, Martin ; Bird, Lynne M. ; Gripp, Karen W.
Publisher:New York: Nature Publishing Group US
Journal title:Nature medicine, 2019-01, Vol.25 (1), p.60-64
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Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes
Author / Creator:Witzel, Maximilian ; Petersheim, Daniel ; Fan, Yanxin ; Bahrami, Ehsan ; Racek, Tomas ; Rohlfs, Meino ; Puchałka, Jacek ; Mertes, Christian ; Gagneur, Julien ; Ziegenhain, Christoph ; Enard, Wolfgang ; Stray-Pedersen, Asbjørg ; Arkwright, Peter D ; Abboud, Miguel R ; Pazhakh, Vahid ; Lieschke, Graham J ; Krawitz, Peter M ; Dahlhoff, Maik ; Schneider, Marlon R ; Wolf, Eckhard ; Horny, Hans-Peter ; Schmidt, Heinrich ; Schäffer, Alejandro A ; Klein, Christoph
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2017-05, Vol.49 (5), p.742-752
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Acromesomelic Dysplasia With Homozygosity for a Likely Pathogenic BMPR1B Variant: Postaxial Polydactyly as a Novel Clinical Finding
Author / Creator:Abdelrazek, Ibrahim M. ; Knaus, Alexej ; Javanmardi, Behnam ; Krawitz, Peter M. ; Horn, Denise ; Abdalla, Ebtesam M. ; Kumar, Sheetal
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2024-10, Vol.12 (10), p.e70023-n/a
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Complement and inflammasome overactivation mediates paroxysmal nocturnal hemoglobinuria with autoinflammation
Author / Creator:Höchsmann, Britta ; Murakami, Yoshiko ; Osato, Makiko ; Knaus, Alexej ; Kawamoto, Michi ; Inoue, Norimitsu ; Hirata, Tetsuya ; Murata, Shogo ; Anliker, Markus ; Eggermann, Thomas ; Jäger, Marten ; Floettmann, Ricarda ; Höllein, Alexander ; Murase, Sho ; Ueda, Yasutaka ; Nishimura, Jun-ichi ; Kanakura, Yuzuru ; Kohara, Nobuo ; Schrezenmeier, Hubert ; Krawitz, Peter M. ; Kinoshita, Taroh
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2019-12, Vol.129 (12), p.5123-5136
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KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients
Author / Creator:Guo, Lily ; Park, Jiyeon ; Yi, Edward ; Marchi, Elaine ; Hsieh, Tzung-Chien ; Kibalnyk, Yana ; Moreno-Sáez, Yolanda ; Biskup, Saskia ; Puk, Oliver ; Beger, Carmela ; Li, Quan ; Wang, Kai ; Voronova, Anastassia ; Krawitz, Peter M ; Lyon, Gholson J
Publisher:Leiden: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2022-11, Vol.30 (11), p.1244-1254
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PDE3A mutations cause autosomal dominant hypertension with brachydactyly
Author / Creator:Maass, Philipp G ; Aydin, Atakan ; Luft, Friedrich C ; Schächterle, Carolin ; Weise, Anja ; Stricker, Sigmar ; Lindschau, Carsten ; Vaegler, Martin ; Qadri, Fatimunnisa ; Toka, Hakan R ; Schulz, Herbert ; Krawitz, Peter M ; Parkhomchuk, Dmitri ; Hecht, Jochen ; Hollfinger, Irene ; Wefeld-Neuenfeld, Yvette ; Bartels-Klein, Eireen ; Mühl, Astrid ; Kann, Martin ; Schuster, Herbert ; Chitayat, David ; Bialer, Martin G ; Wienker, Thomas F ; Ott, Jürg ; Rittscher, Katharina ; Liehr, Thomas ; Jordan, Jens ; Plessis, Ghislaine ; Tank, Jens ; Mai, Knut ; Naraghi, Ramin ; Hodge, Russell ; Hopp, Maxwell ; Hattenbach, Lars O ; Busjahn, Andreas ; Rauch, Anita ; Vandeput, Fabrice ; Gong, Maolian ; Rüschendorf, Franz ; Hübner, Norbert ; Haller, Hermann ; Mundlos, Stefan ; Bilginturan, Nihat ; Movsesian, Matthew A ; Klussmann, Enno ; Toka, Okan ; Bähring, Sylvia
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2015-06, Vol.47 (6), p.647-653
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Evidence for a transgenerational mutational signature from ionizing radiation exposure in humans
Author / Creator:Brand, Fabian ; Klinkhammer, Hannah ; Knaus, Alexej ; Holtgrewe, Manuel ; Weinhold, Leonie ; Beule, Dieter ; Ludwig, Kerstin ; Kothiyal, Prachi ; Maxwell, George ; Noethen, Markus ; Schmid, Matthias ; Sperling, Karl ; Krawitz, Peter
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2025-06, Vol.15 (1), p.20262-14, Article 20262
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Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism
Author / Creator:Pantel, Jean T. ; Zhao, Max ; Mensah, Martin A. ; Hajjir, Nurulhuda ; Hsieh, Tzung-Chien ; Hanani, Yair ; Fleischer, Nicole ; Kamphans, Tom ; Mundlos, Stefan ; Gurovich, Yaron ; Krawitz, Peter M.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2018-05, Vol.41 (3), p.533-539
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Filtering for Compound Heterozygous Sequence Variants in Non-Consanguineous Pedigrees
Author / Creator:Kamphans, Tom ; Sabri, Peggy ; Zhu, Na ; Heinrich, Verena ; Mundlos, Stefan ; Robinson, Peter N. ; Parkhomchuk, Dmitri ; Krawitz, Peter M.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2013-08, Vol.8 (8), p.e70151
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Assessing the performance of European-derived cardiometabolic polygenic risk scores in South-Asians and their interplay with family history
Author / Creator:Hassanin, Emadeldin ; Maj, Carlo ; Klinkhammer, Hannah ; Krawitz, Peter ; May, Patrick ; Bobbili, Dheeraj Reddy
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genomics, 2023-07, Vol.16 (1), p.164-164, Article 164
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Deeplasia: deep learning for bone age assessment validated on skeletal dysplasias
Author / Creator:Rassmann, Sebastian ; Keller, Alexandra ; Skaf, Kyra ; Hustinx, Alexander ; Gausche, Ruth ; Ibarra-Arrelano, Miguel A. ; Hsieh, Tzung-Chien ; Madajieu, Yolande E. D. ; Nöthen, Markus M. ; Pfäffle, Roland ; Attenberger, Ulrike I. ; Born, Mark ; Mohnike, Klaus ; Krawitz, Peter M. ; Javanmardi, Behnam
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Pediatric radiology, 2024-01, Vol.54 (1), p.82-95
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A CRISPR-Cas9–engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions
Author / Creator:de los Santos, Miguel Rodríguez ; Rivalan, Marion ; David, Friederike S. ; Stumpf, Alexander ; Pitsch, Julika ; Tsortouktzidis, Despina ; Velasquez, Laura Moreno ; Voigt, Anne ; Schilling, Karl ; Mattei, Daniele ; Long, Melissa ; Vogt, Guido ; Knaus, Alexej ; Fischer-Zirnsak, Björn ; Wittler, Lars ; Timmermann, Bernd ; Robinson, Peter N. ; Horn, Denise ; Mundlos, Stefan ; Kornak, Uwe ; Becker, Albert J. ; Schmitz, Dietmar ; Winter, York ; Krawitz, Peter M.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2021-01, Vol.118 (2), p.1-11
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Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes
Author / Creator:Carmody, Leigh C. ; Blau, Hannah ; Danis, Daniel ; Zhang, Xingman A. ; Gourdine, Jean-Philippe ; Vasilevsky, Nicole ; Krawitz, Peter ; Thompson, Miles D. ; Robinson, Peter N.
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2020-02, Vol.15 (1), p.40-13, Article 40
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Enhancing Variant Prioritization in VarFish through On-Premise Computational Facial Analysis
Author / Creator:Bhasin, Meghna Ahuja ; Knaus, Alexej ; Incardona, Pietro ; Schmid, Alexander ; Holtgrewe, Manuel ; Elbracht, Miriam ; Krawitz, Peter M. ; Hsieh, Tzung-Chien
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2024-03, Vol.15 (3), p.370
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TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19
Author / Creator:Schmidt, Axel ; Peters, Sophia ; Knaus Alexej ; Hemmen, Sabir ; Hamsen Frauke ; Maj, Carlo ; Fazaal Julia ; Sivalingam Sugirthan ; Savchenko Oleksandr ; Mantri Aakash ; Holzinger, Dirk ; Neudorf, Ulrich ; Müller, Andreas ; Ludwig, Kerstin U ; Krawitz, Peter M ; Engels Hartmut ; Nöthen, Markus M ; Bagci Soyhan
Publisher:London: Nature Publishing Group
Journal title:Npj genomic medicine, 2021-07, Vol.6 (1)
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Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence
Author / Creator:Hassanin, Emadeldin ; Spier, Isabel ; Bobbili, Dheeraj R. ; Aldisi, Rana ; Klinkhammer, Hannah ; David, Friederike ; Dueñas, Nuria ; Hüneburg, Robert ; Perne, Claudia ; Brunet, Joan ; Capella, Gabriel ; Nöthen, Markus M. ; Forstner, Andreas J. ; Mayr, Andreas ; Krawitz, Peter ; May, Patrick ; Aretz, Stefan ; Maj, Carlo
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genomics, 2023-03, Vol.16 (1), p.42-42, Article 42
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Gene-based burden scores identify rare variant associations for 28 blood biomarkers
Author / Creator:Aldisi, Rana ; Hassanin, Emadeldin ; Sivalingam, Sugirthan ; Buness, Andreas ; Klinkhammer, Hannah ; Mayr, Andreas ; Fröhlich, Holger ; Krawitz, Peter ; Maj, Carlo
Publisher:London: BioMed Central Ltd
Journal title:BMC genetics, 2023-09, Vol.24 (1), p.50-50, Article 50
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Tumor rejection in Cblb−/− mice depends on IL-9 and Th9 cells
Author / Creator:Schanz, Oliver ; Cornez, Isabelle ; Yajnanarayana, Sowmya Parampalli ; David, Friederike Sophie ; Peer, Sebastian ; Gruber, Thomas ; Krawitz, Peter ; Brossart, Peter ; Heine, Annkristin ; Landsberg, Jenny ; Baier, Gottfried ; Wolf, Dominik
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal for immunotherapy of cancer, 2021-07, Vol.9 (7), p.e002889
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Cross-tissue transcriptome-wide association studies identify susceptibility genes shared between schizophrenia and inflammatory bowel disease
Author / Creator:Uellendahl-Werth, Florian ; Maj, Carlo ; Borisov, Oleg ; Juzenas, Simonas ; Wacker, Eike Matthias ; Jørgensen, Isabella Friis ; Steiert, Tim Alexander ; Bej, Saptarshi ; Krawitz, Peter ; Hoffmann, Per ; Schramm, Christoph ; Wolkenhauer, Olaf ; Banasik, Karina ; Brunak, Søren ; Schreiber, Stefan ; Karlsen, Tom Hemming ; Degenhardt, Franziska ; Nöthen, Markus ; Franke, Andre ; Folseraas, Trine ; Ellinghaus, David
Publisher:London: Nature Publishing Group UK
Journal title:Communications biology, 2022-01, Vol.5 (1), p.80-80, Article 80
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Analysis of 72,469 UK Biobank exomes links rare variants to male-pattern hair loss
Author / Creator:Henne, Sabrina Katrin ; Aldisi, Rana ; Sivalingam, Sugirthan ; Hochfeld, Lara Maleen ; Borisov, Oleg ; Krawitz, Peter Michael ; Maj, Carlo ; Nöthen, Markus Maria ; Heilmann-Heimbach, Stefanie
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2023-09, Vol.14 (1), p.5492-13, Article 5492
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Identifying facial phenotypes of genetic disorders using deep learning

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Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes

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Acromesomelic Dysplasia With Homozygosity for a Likely Pathogenic BMPR1B Variant: Postaxial Polydactyly as a Novel Clinical Finding

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Complement and inflammasome overactivation mediates paroxysmal nocturnal hemoglobinuria with autoinflammation

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KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients

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PDE3A mutations cause autosomal dominant hypertension with brachydactyly

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Evidence for a transgenerational mutational signature from ionizing radiation exposure in humans

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Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism

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Filtering for Compound Heterozygous Sequence Variants in Non-Consanguineous Pedigrees

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Assessing the performance of European-derived cardiometabolic polygenic risk scores in South-Asians and their interplay with family history

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Deeplasia: deep learning for bone age assessment validated on skeletal dysplasias

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A CRISPR-Cas9–engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions

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Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes

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Enhancing Variant Prioritization in VarFish through On-Premise Computational Facial Analysis

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TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19

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Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence

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Gene-based burden scores identify rare variant associations for 28 blood biomarkers

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Tumor rejection in Cblb−/− mice depends on IL-9 and Th9 cells

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Cross-tissue transcriptome-wide association studies identify susceptibility genes shared between schizophrenia and inflammatory bowel disease

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Analysis of 72,469 UK Biobank exomes links rare variants to male-pattern hair loss

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