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Publications

Featured publications

  • Understanding recessive disease risk in multi-ethnic populations with different degrees of consanguinity.

    American journal of medical genetics. Part A

    Authors: Luis A La Rocca, Julia Frank, Heidi Beate Bentzen, Jean Tori Pantel, Konrad Gerischer, Peter M Krawitz, Anton Bovier

  • [Next-generation phenotyping in rare diseases with facial dysmorphism].

    Innere Medizin (Heidelberg, Germany)

    Authors: Peter Krawitz

  • Facilitating the Molecular Diagnosis of Rare Genetic Disorders Through Facial Phenotypic Scores.

    Current protocols

    Authors: Tzung-Chien Hsieh, Hellen Lesmann, Peter M Krawitz

  • Prevalence and determinants of subretinal drusenoid deposits in patients' first-degree relatives.

    Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie

    Authors: Matthias M Mauschitz, Benedikt J Hochbein, Hannah Klinkhammer, Marlene Saßmannshausen, Jan H Terheyden, Peter Krawitz, Robert P Finger

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

    BMC genomic data

    Authors: Rana Aldisi, Emadeldin Hassanin, Sugirthan Sivalingam, Andreas Buness, Hannah Klinkhammer, Andreas Mayr, Holger Fröhlich, Peter Krawitz, Carlo Maj

  • Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant.

    American journal of medical genetics. Part C, Seminars in medical genetics

    Authors: Caitlin Forwood, Katie Ashton, Ying Zhu, Futao Zhang, Kerith-Rae Dias, Krystle Standen, Carey-Anne Evans, Louise Carey, Michael Cardamone, Carolyn Shalhoub, Hala Katf, Carlos Riveros, Tzung-Chien Hsieh, Peter Krawitz, Peter N Robinson, Tracy Dudding-Byth, Bekim Sadikovic, Jason Pinner, Michael F Buckley, Tony Roscioli

  • CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.

    European journal of human genetics : EJHG

    Authors: Henry Oppermann, Elia Marcos-Grañeda, Linnea A Weiss, Christina A Gurnett, Anne Marie Jelsig, Susanne H Vineke, Bertrand Isidor, Sandra Mercier, Kari Magnussen, Pia Zacher, Mona Hashim, Alistair T Pagnamenta, Simone Race, Siddharth Srivastava, Zoë Frazier, Robert Maiwald, Matthias Pergande, Donatella Milani, Martina Rinelli, Jonathan Levy, Ilona Krey, Paolo Fontana, Fortunato Lonardo, Stephanie Riley, Jasmine Kretzer, Julia Rankin, Linda M Reis, Elena V Semina, Miriam S Reuter, Stephen W Scherer, Maria Iascone, Denisa Weis, Christina R Fagerberg, Charlotte Brasch-Andersen, Lars Kjaersgaard Hansen, Alma Kuechler, Nathan Noble, Alice Gardham, Jessica Tenney, Geetanjali Rathore, Stefanie Beck-Woedl, Tobias B Haack, Despoina C Pavlidou, Isis Atallah, Julia Vodopiutz, Andreas R Janecke, Tzung-Chien Hsieh, Hellen Lesmann, Hannah Klinkhammer, Peter M Krawitz, Johannes R Lemke, Rami Abou Jamra, Marta Nieto, Zeynep Tümer, Konrad Platzer

  • Computational facial analysis for rare Mendelian disorders.

    American journal of medical genetics. Part C, Seminars in medical genetics

    Authors: Tzung-Chien Hsieh, Peter M Krawitz

  • Corrigendum to "Dissecting the genetic heterogeneity of gastric cancer".

    EBioMedicine

    Authors: Timo Hess, Carlo Maj, Jan Gehlen, Oleg Borisov, Stephan L Haas, Ines Gockel, Michael Vieth, Guillaume Piessen, Hakan Alakus, Yogesh Vashist, Carina Pereira, Michael Knapp, Vitalia Schüller, Alexander Quaas, Heike I Grabsch, Jessica Trautmann, Ewa Malecka-Wojciesko, Anna Mokrowiecka, Jan Speller, Andreas Mayr, Julia Schröder, Axel M Hillmer, Dominik Heider, Florian Lordick, Ángeles Pérez-Aísa, Rafael Campo, Jesús Espinel, Fernando Geijo, Concha Thomson, Luis Bujanda, Federico Sopeña, Ángel Lanas, María Pellisé, Claudia Pauligk, Thorsten Oliver Goetze, Carolin Zelck, Julian Reingruber, Emadeldin Hassanin, Peter Elbe, Sandra Alsabeah, Mats Lindblad, Magnus Nilsson, Nicole Kreuser, René Thieme, Francesca Tavano, Roberta Pastorino, Dario Arzani, Roberto Persiani, Jin-On Jung, Henrik Nienhüser, Katja Ott, Ralf R Schumann, Oliver Kumpf, Susen Burock, Volker Arndt, Anna Jakubowska, Małgorzta Ławniczak, Victor Moreno, Vicente Martín, Manolis Kogevinas, Marina Pollán, Justyna Dąbrowska, Antonio Salas, Olivier Cussenot, Anne Boland-Auge, Delphine Daian, Jean-Francois Deleuze, Erika Salvi, Maris Teder-Laving, Gianluca Tomasello, Margherita Ratti, Chiara Senti, Valli De Re, Agostino Steffan, Arnulf H Hölscher, Katharina Messerle, Christiane Josephine Bruns, Armands Sīviņš, Inga Bogdanova, Jurgita Skieceviciene, Justina Arstikyte, Markus Moehler, Hauke Lang, Peter P Grimminger, Martin Kruschewski, Nikolaos Vassos, Claus Schildberg, Philipp Lingohr, Karsten Ridwelski, Hans Lippert, Nadine Fricker, Peter Krawitz, Per Hoffmann, Markus M Nöthen, Lothar Veits, Jakob R Izbicki, Adrianna Mostowska, Federico Martinón-Torres, Daniele Cusi, Rolf Adolfsson, Geraldine Cancel-Tassin, Aksana Höblinger, Ernst Rodermann, Monika Ludwig, Gisela Keller, Andres Metspalu, Hermann Brenner, Joerg Heller, Markus Neef, Michael Schepke, Franz Ludwig Dumoulin, Lutz Hamann, Renato Cannizzaro, Michele Ghidini, Dominik Plaßmann, Michael Geppert, Peter Malfertheiner, Olivier Glehen, Tomasz Skoczylas, Marek Majewski, Jan Lubiński, Orazio Palmieri, Stefania Boccia, Anna Latiano, Nuria Aragones, Thomas Schmidt, Mário Dinis-Ribeiro, Rui Medeiros, Salah-Eddin Al-Batran, Mārcis Leja, Juozas Kupcinskas, María A García-González, Marino Venerito, Johannes Schumacher

  • Founder variants in KRT5 and POGLUT1 are implicated in Dowling-Degos disease.

    The Journal of investigative dermatology

    Authors: Sheetal Kumar, Oleg Borisov, Carlo Maj, Damian J Ralser, Aytaj Humbatova, Sandra Hanneken, Astrid Schmieder, Janina Groß, Laura Maintz, Andre Heineke, Jana Knuever, Christina Fagerberg, Laurent Parmentier, Waltraud Anemüller, Vinzenz Oji, Iliana Tantcheva-Poór, Regina Fölster-Holst, Joerg Wenzel, Peter M Krawitz, Jorge Frank, Regina C Betz