Hakutulokset - Krawitz, Peter

GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes Tekijä Kamphans, Tom, Krawitz, Peter M.

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A likelihood ratio-based method to predict exact pedigrees for complex families from next-generation sequencing data Tekijä Heinrich, Verena, Kamphans, Tom, Mundlos, Stefan, Robinson, Peter N, Krawitz, Peter M

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VZV meningitis following varicella vaccine Tekijä Fusco, Dahlene, Krawitz, Peter, LaRussa, Philip, Steinberg, Sharon, Gershon, Anne, Jacobs, Jonathan

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Integrative analysis of key candidate genes and signaling pathways in autoimmune thyroid dysfunction related to anti-CTLA-4 therapy by bioinformatics Tekijä Zhang, Ying, Garofano, Francesca, Wu, Xiaolong, Schmid, Matthias, Krawitz, Peter, Essler, Markus, Schmidt-Wolf, Ingo G. H.

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Filtering for Compound Heterozygous Sequence Variants in Non-Consanguineous Pedigrees Tekijä Kamphans, Tom, Sabri, Peggy, Zhu, Na, Heinrich, Verena, Mundlos, Stefan, Robinson, Peter N., Parkhomchuk, Dmitri, Krawitz, Peter M.

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Estimating exome genotyping accuracy by comparing to data from large scale sequencing projects Tekijä Heinrich, Verena, Kamphans, Tom, Stange, Jens, Parkhomchuk, Dmitri, Hecht, Jochen, Dickhaus, Thorsten, Robinson, Peter N, Krawitz, Peter M

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GenRisk: a tool for comprehensive genetic risk modeling Tekijä Aldisi, Rana, Hassanin, Emadeldin, Sivalingam, Sugirthan, Buness, Andreas, Klinkhammer, Hannah, Mayr, Andreas, Fröhlich, Holger, Krawitz, Peter, Maj, Carlo

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Juvenile arthritis caused by a novel FAMIN (LACC1) mutation in two children with systemic and extended oligoarticular course Tekijä Kallinich, Tilmann, Thorwarth, Anne, von Stuckrad, Sae-Lim, Rösen-Wolff, Angela, Luksch, Hella, Hundsdoerfer, Patrick, Minden, Kirsten, Krawitz, Peter

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Mechanism for Release of Alkaline Phosphatase Caused by Glycosylphosphatidylinositol Deficiency in Patients with Hyperphosphatasia Mental Retardation Syndrome Tekijä Murakami, Yoshiko, Kanzawa, Noriyuki, Saito, Kazunobu, Krawitz, Peter M., Mundlos, Stefan, Robinson, Peter N., Karadimitris, Anastasios, Maeda, Yusuke, Kinoshita, Taroh

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Reduced cell surface levels of GPI‐linked markers in a new case with PIGG loss of function Tekijä Zhao, Jin James, Halvardson, Jonatan, Knaus, Alexej, Georgii‐Hemming, Patrik, Baeck, Peter, Krawitz, Peter M., Thuresson, Ann‐Charlotte, Feuk, Lars

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Combining callers improves the detection of copy number variants from whole-genome sequencing Tekijä Coutelier, Marie, Holtgrewe, Manuel, Jäger, Marten, Flöttman, Ricarda, Mensah, Martin A., Spielmann, Malte, Krawitz, Peter, Horn, Denise, Beule, Dieter, Mundlos, Stefan

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The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process Tekijä Heinrich, Verena, Stange, Jens, Dickhaus, Thorsten, Imkeller, Peter, Krüger, Ulrike, Bauer, Sebastian, Mundlos, Stefan, Robinson, Peter N., Hecht, Jochen, Krawitz, Peter M.

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DeepCNV: a deep learning approach for authenticating copy number variations Tekijä Glessner, Joseph T, Hou, Xiurui, Zhong, Cheng, Zhang, Jie, Khan, Munir, Brand, Fabian, Krawitz, Peter, Sleiman, Patrick M A, Hakonarson, Hakon, Wei, Zhi

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Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies Tekijä Köhler, Sebastian, Schulz, Marcel H., Krawitz, Peter, Bauer, Sebastian, Dölken, Sandra, Ott, Claus E., Mundlos, Christine, Horn, Denise, Mundlos, Stefan, Robinson, Peter N.

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Identity-by-descent filtering of exome sequence data for disease–gene identification in autosomal recessive disorders Tekijä Rödelsperger, Christian, Krawitz, Peter, Bauer, Sebastian, Hecht, Jochen, Bigham, Abigail W., Bamshad, Michael, de Condor, Birgit Jonske, Schweiger, Michal R., Robinson, Peter N.

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Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes Tekijä Carmody, Leigh C., Blau, Hannah, Danis, Daniel, Zhang, Xingman A., Gourdine, Jean-Philippe, Vasilevsky, Nicole, Krawitz, Peter, Thompson, Miles D., Robinson, Peter N.

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Factors in Color Fundus Photographs That Can Be Used by Humans to Determine Sex of Individuals Tekijä Dieck, Simon, Ibarra, Miguel, Moghul, Ismail, Yeung, Ming Wai, Pantel, Jean Tori, Thiele, Sarah, Pfau, Maximilian, Fleckenstein, Monika, Pontikos, Nikolas, Krawitz, Peter M.

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PGAP2 Mutations, Affecting the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation Syndrome Tekijä Krawitz, Peter M., Murakami, Yoshiko, Rieß, Angelika, Hietala, Marja, Krüger, Ulrike, Zhu, Na, Kinoshita, Taroh, Mundlos, Stefan, Hecht, Jochen, Robinson, Peter N., Horn, Denise

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Reconstruction of the origin of the first major SARS-CoV-2 outbreak in Germany Tekijä Korencak, Marek, Sivalingam, Sugirthan, Sahu, Anshupa, Dressen, Dietmar, Schmidt, Axel, Brand, Fabian, Krawitz, Peter, Hart, Libor, Maria Eis-Hübinger, Anna, Buness, Andreas, Streeck, Hendrik

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Occurrence of a paroxysmal nocturnal hemoglobinuria clone in an essential thrombocythemia: a link between PIGV and MPL Tekijä Knaus, Alexej, Vergez, François, Garcia, Cédric, Engels, Hartmut, Hundertmark, Hela, Ribes, David, Largeaud, Laetitia, Tavitian, Suzanne, Payrastre, Bernard, Krawitz, Peter, Faguer, Stanislas, Ribes, Agnes

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