Skip to main content

Publications

featured publications

  • Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.

    Genetics in medicine : official journal of the American College of Medical Genetics

    Authors: Lucy Loong, Agostina Tardivo, Alexej Knaus, Mona Hashim, Alistair T Pagnamenta, Kerstin Alt, Helena Böhrer-Rabel, Alfonso Caro-Llopis, Trevor Cole, Felix Distelmaier, Patrick Edery, Carlos R Ferreira, Aleksandra Jezela-Stanek, Bronwyn Kerr, Gerhard Kluger, Peter M Krawitz, Marius Kuhn, Johannes R Lemke, Gaetan Lesca, Sally Ann Lynch, Francisco Martinez, Caroline Maxton, Hanna Mierzewska, Sandra Monfort, Joost Nicolai, Carmen Orellana, Deb K Pal, Rafał Płoski, Oliver W Quarrell, Monica Rosello, Małgorzata Rydzanicz, Ataf Sabir, Robert Śmigiel, Alexander P A Stegmann, Helen Stewart, Constance Stumpel, Elżbieta Szczepanik, Andreas Tzschach, Lynne Wolfe, Jenny C Taylor, Yoshiko Murakami, Taroh Kinoshita, Allan Bayat, Usha Kini

  • Top publication

    Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals.

    JAMA dermatology

    Authors: F Buket Basmanav, Nicole Cesarato, Sheetal Kumar, Oleg Borisov, Pavlos Kokordelis, Damian J Ralser, Maria Wehner, Daisy Axt, Xing Xiong, Holger Thiele, Vadim Dolgin, Yasmina Gossmann, Nadine Fricker, Malin Katharina Dewenter, Karsten Weller, Mohnish Suri, Herbert Reichenbach, Vinzenz Oji, Marie-Claude Addor, Karla Ramirez, Helen Stewart, Natalie Garcia Bartels, Lisa Weibel, Nicola Wagner, Susannah George, Arzu Kilic, Iliana Tantcheva-Poor, Alison Stewart, Nicola Dikow, Bettina Blaumeiser, Márta Medvecz, Ulrike Blume-Peytavi, Paul Farrant, Ramon Grimalt, Sara Bertok, Lisa Bradley, Marina Eskin-Schwartz, Ohad Samuel Birk, Anette Bygum, Michel Simon, Peter Krawitz, Christine Fischer, Henning Hamm, Günter Fritz, Regina C Betz

  • [Artificial intelligence in the diagnosis of rare disorders: the development of phenotype analysis].

    Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz

    Authors: Peter M Krawitz

  • Genetics in parkinson's disease: From better disease understanding to machine learning based precision medicine.

    Frontiers in molecular medicine

    Authors: Mohamed Aborageh, Peter Krawitz, Holger Fröhlich

  • Next-generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen-de Vries syndrome.

    Human mutation

    Authors: 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

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

    European journal of human genetics : EJHG

    Authors: Lily Guo, Jiyeon Park, Edward Yi, Elaine Marchi, Tzung-Chien Hsieh, Yana Kibalnyk, Yolanda Moreno-Sáez, Saskia Biskup, Oliver Puk, Carmela Beger, Quan Li, Kai Wang, Anastassia Voronova, Peter M Krawitz, Gholson J Lyon

  • Statistical learning for sparser fine-mapped polygenic models: The prediction of LDL-cholesterol.

    Genetic epidemiology

    Authors: Carlo Maj, Christian Staerk, Oleg Borisov, Hannah Klinkhammer, Ming Wai Yeung, Peter Krawitz, Andreas Mayr

  • Occurrence of a paroxysmal nocturnal hemoglobinuria clone in an essential thrombocythemia: a link between and .

    Haematologica

    Authors: Alexej Knaus, François Vergez, Cédric Garcia, Hartmut Engels, Hela Hundertmark, David Ribes, Laetitia Largeaud, Suzanne Tavitian, Bernard Payrastre, Peter Krawitz, Stanislas Faguer, Agnes Ribes

  • Clinical, Brain, and Multilevel Clustering in Early Psychosis and Affective Stages.

    JAMA psychiatry

    Authors: Dominic B Dwyer, Madalina-Octavia Buciuman, Anne Ruef, Joseph Kambeitz, Mark Sen Dong, Caedyn Stinson, Lana Kambeitz-Ilankovic, Franziska Degenhardt, Rachele Sanfelici, Linda A Antonucci, Paris Alexandros Lalousis, Julian Wenzel, Maria Fernanda Urquijo-Castro, David Popovic, Oemer Faruk Oeztuerk, Shalaila S Haas, Johanna Weiske, Daniel Hauke, Susanne Neufang, Christian Schmidt-Kraepelin, Stephan Ruhrmann, Nora Penzel, Theresa Lichtenstein, Marlene Rosen, Katharine Chisholm, Anita Riecher-Rössler, Laura Egloff, André Schmidt, Christina Andreou, Jarmo Hietala, Timo Schirmer, Georg Romer, Chantal Michel, Wulf Rössler, Carlo Maj, Oleg Borisov, Peter M Krawitz, Peter Falkai, Christos Pantelis, Rebekka Lencer, Alessandro Bertolino, Stefan Borgwardt, Markus Noethen, Paolo Brambilla, Frauke Schultze-Lutter, Eva Meisenzahl, Stephen J Wood, Christos Davatzikos, Rachel Upthegrove, Raimo K R Salokangas, Nikolaos Koutsouleris

  • The GA4GH Phenopacket schema defines a computable representation of clinical data.

    Nature biotechnology

    Authors: Julius O B Jacobsen, Michael Baudis, Gareth S Baynam, Jacques S Beckmann, Sergi Beltran, Orion J Buske, Tiffany J Callahan, Christopher G Chute, Mélanie Courtot, Daniel Danis, Olivier Elemento, Andrea Essenwanger, Robert R Freimuth, Michael A Gargano, Tudor Groza, Ada Hamosh, Nomi L Harris, Rajaram Kaliyaperumal, Kevin C Kent Lloyd, Aly Khalifa, Peter M Krawitz, Sebastian Köhler, Brian J Laraway, Heikki Lehväslaiho, Leslie Matalonga, Julie A McMurry, Alejandro Metke-Jimenez, Christopher J Mungall, Monica C Munoz-Torres, Soichi Ogishima, Anastasios Papakonstantinou, Davide Piscia, Nikolas Pontikos, Núria Queralt-Rosinach, Marco Roos, Julian Sass, Paul N Schofield, Dominik Seelow, Anastasios Siapos, Damian Smedley, Lindsay D Smith, Robin Steinhaus, Jagadish Chandrabose Sundaramurthi, Emilia M Swietlik, Sylvia Thun, Nicole A Vasilevsky, Alex H Wagner, Jeremy L Warner, Claus Weiland, Melissa A Haendel, Peter N Robinson