Künstliche Intelligenz bei der Diagnose Seltener Erkrankungen: die Entwicklung der Phänotyp-Analyse

por Krawitz, Peter M.
Publicado 2022

GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes

por Kamphans, Tom, Krawitz, Peter M.
Publicado 2012

A likelihood ratio-based method to predict exact pedigrees for complex families from next-generation sequencing data

por Heinrich, Verena, Kamphans, Tom, Mundlos, Stefan, Robinson, Peter N, Krawitz, Peter M
Publicado 2017

Filtering for Compound Heterozygous Sequence Variants in Non-Consanguineous Pedigrees

por Kamphans, Tom, Sabri, Peggy, Zhu, Na, Heinrich, Verena, Mundlos, Stefan, Robinson, Peter N., Parkhomchuk, Dmitri, Krawitz, Peter M.
Publicado 2013

Estimating exome genotyping accuracy by comparing to data from large scale sequencing projects

por Heinrich, Verena, Kamphans, Tom, Stange, Jens, Parkhomchuk, Dmitri, Hecht, Jochen, Dickhaus, Thorsten, Robinson, Peter N, Krawitz, Peter M
Publicado 2013

AI-based multi-PRS models outperform classical single-PRS models

por Klau, Jan Henric, Maj, Carlo, Klinkhammer, Hannah, Krawitz, Peter M., Mayr, Andreas, Hillmer, Axel M., Schumacher, Johannes, Heider, Dominik
Publicado 2023

Reduced cell surface levels of GPI‐linked markers in a new case with PIGG loss of function

por Zhao, Jin James, Halvardson, Jonatan, Knaus, Alexej, Georgii‐Hemming, Patrik, Baeck, Peter, Krawitz, Peter M., Thuresson, Ann‐Charlotte, Feuk, Lars
Publicado 2017

The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process

por Heinrich, Verena, Stange, Jens, Dickhaus, Thorsten, Imkeller, Peter, Krüger, Ulrike, Bauer, Sebastian, Mundlos, Stefan, Robinson, Peter N., Hecht, Jochen, Krawitz, Peter M.
Publicado 2012

Factors in Color Fundus Photographs That Can Be Used by Humans to Determine Sex of Individuals

por Dieck, Simon, Ibarra, Miguel, Moghul, Ismail, Yeung, Ming Wai, Pantel, Jean Tori, Thiele, Sarah, Pfau, Maximilian, Fleckenstein, Monika, Pontikos, Nikolas, Krawitz, Peter M.
Publicado 2020

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

por 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.
Publicado 2018

Knowledge transfer to enhance the performance of deep learning models for automated classification of B cell neoplasms

por Mallesh, Nanditha, Zhao, Max, Meintker, Lisa, Höllein, Alexander, Elsner, Franz, Lüling, Hannes, Haferlach, Torsten, Kern, Wolfgang, Westermann, Jörg, Brossart, Peter, Krause, Stefan W., Krawitz, Peter M.
Publicado 2021

Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome

por Krawitz, Peter M, Schiska, Daniela, Krüger, Ulrike, Appelt, Sandra, Heinrich, Verena, Parkhomchuk, Dmitri, Timmermann, Bernd, Millan, Jose M, Robinson, Peter N, Mundlos, Stefan, Hecht, Jochen, Gross, Manfred
Publicado 2014

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

por 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.
Publicado 2022

Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of de novo mutations

por Zieger, Hanna K., Weinhold, Leonie, Schmidt, Axel, Holtgrewe, Manuel, Juranek, Stefan A., Siewert, Anna, Scheer, Annika B., Thieme, Frederic, Mangold, Elisabeth, Ishorst, Nina, Brand, Fabian U., Welzenbach, Julia, Beule, Dieter, Paeschke, Katrin, Krawitz, Peter M., Ludwig, Kerstin U.
Publicado 2022

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

por Schmidt, Axel, Peters, Sophia, Knaus, Alexej, Sabir, Hemmen, 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
Publicado 2021

Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome

por Knaus, Alexej, Awaya, Tomonari, Helbig, Ingo, Afawi, Zaid, Pendziwiat, Manuela, Abu‐Rachma, Jubran, Thompson, Miles D., Cole, David E., Skinner, Steve, Annese, Fran, Canham, Natalie, Schweiger, Michal R., Robinson, Peter N., Mundlos, Stefan, Kinoshita, Taroh, Munnich, Arnold, Murakami, Yoshiko, Horn, Denise, Krawitz, Peter M.
Publicado 2016

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

por Rodríguez de los Santos, Miguel, 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.
Publicado 2021

Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome

por Kotlarz, Daniel, Ziętara, Natalia, Uzel, Gulbu, Weidemann, Thomas, Braun, Christian J., Diestelhorst, Jana, Krawitz, Peter M., Robinson, Peter N., Hecht, Jochen, Puchałka, Jacek, Gertz, E. Michael, Schäffer, Alejandro A., Lawrence, Monica G., Kardava, Lela, Pfeifer, Dietmar, Baumann, Ulrich, Pfister, Eva-Doreen, Hanson, Eric P., Schambach, Axel, Jacobs, Roland, Kreipe, Hans, Moir, Susan, Milner, Joshua D., Schwille, Petra, Mundlos, Stefan, Klein, Christoph
Publicado 2013

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

por Knaus, Alexej, Pantel, Jean Tori, Pendziwiat, Manuela, Hajjir, Nurulhuda, Zhao, Max, Hsieh, Tzung-Chien, Schubach, Max, Gurovich, Yaron, Fleischer, Nicole, Jäger, Marten, Köhler, Sebastian, Muhle, Hiltrud, Korff, Christian, Møller, Rikke S., Bayat, Allan, Calvas, Patrick, Chassaing, Nicolas, Warren, Hannah, Skinner, Steven, Louie, Raymond, Evers, Christina, Bohn, Marc, Christen, Hans-Jürgen, van den Born, Myrthe, Obersztyn, Ewa, Charzewska, Agnieszka, Endziniene, Milda, Kortüm, Fanny, Brown, Natasha, Robinson, Peter N., Schelhaas, Helenius J., Weber, Yvonne, Helbig, Ingo, Mundlos, Stefan, Horn, Denise, Krawitz, Peter M.
Publicado 2018

Multimodal Machine Learning Workflows for Prediction of Psychosis in Patients With Clinical High-Risk Syndromes and Recent-Onset Depression

por Koutsouleris, Nikolaos, Dwyer, Dominic B., Degenhardt, Franziska, Maj, Carlo, Urquijo-Castro, Maria Fernanda, Sanfelici, Rachele, Popovic, David, Oeztuerk, Oemer, Haas, Shalaila S., Weiske, Johanna, Ruef, Anne, Kambeitz-Ilankovic, Lana, Antonucci, Linda A., Neufang, Susanne, Schmidt-Kraepelin, Christian, Ruhrmann, Stephan, Penzel, Nora, Kambeitz, Joseph, Haidl, Theresa K., Rosen, Marlene, Chisholm, Katharine, Riecher-Rössler, Anita, Egloff, Laura, Schmidt, André, Andreou, Christina, Hietala, Jarmo, Schirmer, Timo, Romer, Georg, Walger, Petra, Franscini, Maurizia, Traber-Walker, Nina, Schimmelmann, Benno G., Flückiger, Rahel, Michel, Chantal, Rössler, Wulf, Borisov, Oleg, Krawitz, Peter M., Heekeren, Karsten, Buechler, Roman, Pantelis, Christos, Falkai, Peter, Salokangas, Raimo K. R., Lencer, Rebekka, Bertolino, Alessandro, Borgwardt, Stefan, Noethen, Markus, Brambilla, Paolo, Wood, Stephen J., Upthegrove, Rachel, Schultze-Lutter, Frauke, Theodoridou, Anastasia, Meisenzahl, Eva
Publicado 2020