Publications

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

17/07/2023 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

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

12/07/2023 BMC medical genomics

Authors: Emadeldin Hassanin, Carlo Maj, Hannah Klinkhammer, Peter Krawitz, Patrick May, Dheeraj Reddy Bobbili

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

27/06/2023 Frontiers in genetics

Authors: Jan Henric Klau, Carlo Maj, Hannah Klinkhammer, Peter M Krawitz, Andreas Mayr, Axel M Hillmer, Johannes Schumacher, Dominik Heider

Episignature analysis of moderate effects and mosaics.

26/06/2023 European journal of human genetics : EJHG

Authors: Konrad Oexle, Michael Zech, Lara G Stühn, Sandy Siegert, Theresa Brunet, Wolfgang M Schmidt, Matias Wagner, Axel Schmidt, Hartmut Engels, Erik Tilch, Olivier Monestier, Anne Destrėe, Britta Hanker, Sylvia Boesch, Robert Jech, Riccardo Berutti, Frank Kaiser, Bernhard Haslinger, Tobias B Haack, Barbara Garavaglia, Peter Krawitz, Juliane Winkelmann, Nazanin Mirza-Schreiber

Editorial - Diagnostic genome sequencing in rare disorders.

13/06/2023 Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V

Authors: Peter Krawitz, Tobias B Haack

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.

31/05/2023 Science translational medicine

Authors: Frédéric Ebstein, Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie-Pier Scott-Boyer, Geeske M van Woerden, Thomas Besnard, Jonas Johannes Papendorf, Maja Studencka-Turski, Tianyun Wang, Tzung-Chien Hsieh, Richard Golnik, Dustin Baldridge, Cara Forster, Charlotte de Konink, Selina M W Teurlings, Virginie Vignard, Richard H van Jaarsveld, Lesley Ades, Benjamin Cogné, Cyril Mignot, Wallid Deb, Marjolijn C J Jongmans, F Sessions Cole, Marie-José H van den Boogaard, Jennifer A Wambach, Daniel J Wegner, Sandra Yang, Vickie Hannig, Jennifer Ann Brault, Neda Zadeh, Bruce Bennetts, Boris Keren, Anne-Claire Gélineau, Zöe Powis, Meghan Towne, Kristine Bachman, Andrea Seeley, Anita E Beck, Jennifer Morrison, Rachel Westman, Kelly Averill, Theresa Brunet, Judith Haasters, Melissa T Carter, Matthew Osmond, Patricia G Wheeler, Francesca Forzano, Shehla Mohammed, Yannis Trakadis, Andrea Accogli, Rachel Harrison, Yiran Guo, Hakon Hakonarson, Sophie Rondeau, Geneviève Baujat, Giulia Barcia, René Günther Feichtinger, Johannes Adalbert Mayr, Martin Preisel, Frédéric Laumonnier, Tilmann Kallinich, Alexej Knaus, Bertrand Isidor, Peter Krawitz, Uwe Völker, Elke Hammer, Arnaud Droit, Evan E Eichler, Ype Elgersma, Peter W Hildebrand, François Bolduc, Elke Krüger, Stéphane Bézieau

Dissecting the genetic heterogeneity of gastric cancer.

18/05/2023 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 Gehlen, 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

Few-Shot Meta-Learning for Recognizing Facial Phenotypes of Genetic Disorders.

18/05/2023 Studies in health technology and informatics

Authors: Ömer Sümer, Fabio Hellmann, Alexander Hustinx, Tzung-Chien Hsieh, Elisabeth André, Peter Krawitz

Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome.

02/05/2023 European journal of human genetics : EJHG

Authors: Gholson J Lyon, Marall Vedaie, Travis Beisheim, Agnes Park, Elaine Marchi, Leah Gottlieb, Tzung-Chien Hsieh, Hannah Klinkhammer, Katherine Sandomirsky, Hanyin Cheng, Lois J Starr, Isabelle Preddy, Marcellus Tseng, Quan Li, Yu Hu, Kai Wang, Ana Carvalho, Francisco Martinez, Alfonso Caro-Llopis, Maureen Gavin, Karen Amble, Peter Krawitz, Ronen Marmorstein, Ellen Herr-Israel

Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.

31/03/2023 Genetics in medicine : official journal of the American College of Medical Genetics

Authors: Luisa Averdunk, Maxim A Huetzen, Daniel Moreno-Andrés, Reinhard Kalb, Shane McKee, Tzung-Chien Hsieh, Annette Seibt, Marten Schouwink, Seema Lalani, Eissa Ali Faqeih, Theresa Brunet, Peter Boor, Kornelia Neveling, Alexander Hoischen, Barbara Hildebrandt, Elisabeth Graf, Linchao Lu, Weidong Jin, Joerg Schaper, Jamal A Omer, Tanguy Demaret, Nicole Fleischer, Detlev Schindler, Peter Krawitz, Ertan Mayatepek, Dagmar Wieczorek, Lisa L Wang, Wolfram Antonin, Ron D Jachimowicz, Verena von Felbert, Felix Distelmaier