Publications

Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes.

04/02/2020 Orphanet journal of rare diseases

Authors: Leigh C Carmody, Hannah Blau, Daniel Danis, Xingman A Zhang, Jean-Philippe Gourdine, Nicole Vasilevsky, Peter Krawitz, Miles D Thompson, Peter N Robinson

A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder.

02/12/2019 European journal of medical genetics

Authors: Miles D Thompson, Alexej A Knaus, Bruce A Barshop, Almuth Caliebe, Hiltrud Muhle, Thi Tuyet Mai Nguyen, Nissan V Baratang, Taroh Kinoshita, Maire E Percy, Philippe M Campeau, Yoshiko Murakami, David E Cole, Peter M Krawitz, C Charlton Mabry

Complement and inflammasome overactivation mediates paroxysmal nocturnal hemoglobinuria with autoinflammation.

02/12/2019 The Journal of clinical investigation

Authors: Britta Höchsmann, Yoshiko Murakami, Makiko Osato, Alexej Knaus, Michi Kawamoto, Norimitsu Inoue, Tetsuya Hirata, Shogo Murata, Markus Anliker, Thomas Eggermann, Marten Jäger, Ricarda Floettmann, Alexander Höllein, Sho Murase, Yasutaka Ueda, Jun-Ichi Nishimura, Yuzuru Kanakura, Nobuo Kohara, Hubert Schrezenmeier, Peter M Krawitz, Taroh Kinoshita

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.

29/07/2019 Frontiers in genetics

Authors: Christoffer Nellåker, Fowzan S Alkuraya, Gareth Baynam, Raphael A Bernier, Francois P J Bernier, Vanessa Boulanger, Michael Brudno, Han G Brunner, Jill Clayton-Smith, Benjamin Cogné, Hugh J S Dawkins, Bert B A deVries, Sofia Douzgou, Tracy Dudding-Byth, Evan E Eichler, Michael Ferlaino, Karen Fieggen, Helen V Firth, David R FitzPatrick, Dylan Gration, Tudor Groza, Melissa Haendel, Nina Hallowell, Ada Hamosh, Jayne Hehir-Kwa, Marc-Phillip Hitz, Mark Hughes, Usha Kini, Tjitske Kleefstra, R Frank Kooy, Peter Krawitz, Sébastien Küry, Melissa Lees, Gholson J Lyon, Stanislas Lyonnet, Julien L Marcadier, Stephen Meyn, Veronika Moslerová, Juan M Politei, Cathryn C Poulton, F Lucy Raymond, Margot R F Reijnders, Peter N Robinson, Corrado Romano, Catherine M Rose, David C G Sainsbury, Lyn Schofield, Vernon R Sutton, Marek Turnovec, Anke Van Dijck, Hilde Van Esch, Andrew O M Wilkie

Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies.

25/07/2019 American journal of human genetics

Authors: Alexej Knaus, Fanny Kortüm, Tjitske Kleefstra, Asbjørg Stray-Pedersen, Dejan Đukić, Yoshiko Murakami, Thorsten Gerstner, Hans van Bokhoven, Zafar Iqbal, Denise Horn, Taroh Kinoshita, Maja Hempel, Peter M Krawitz

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.

27/06/2019 American journal of human genetics

Authors: Yoshiko Murakami, Thi Tuyet Mai Nguyen, Nissan Baratang, Praveen K Raju, Alexej Knaus, Sian Ellard, Gabriela Jones, Baiba Lace, Justine Rousseau, Norbert Fonya Ajeawung, Atsushi Kamei, Gaku Minase, Manami Akasaka, Nami Araya, Eriko Koshimizu, Jenneke van den Ende, Florian Erger, Janine Altmüller, Zita Krumina, Jurgis Strautmanis, Inna Inashkina, Janis Stavusis, Areeg El-Gharbawy, Jessica Sebastian, Ratna Dua Puri, Samarth Kulshrestha, Ishwar C Verma, Esther M Maier, Tobias B Haack, Anil Israni, Julia Baptista, Adam Gunning, Jill A Rosenfeld, Pengfei Liu, Marieke Joosten, María Eugenia Rocha, Mais O Hashem, Hesham M Aldhalaan, Fowzan S Alkuraya, Satoko Miyatake, Naomichi Matsumoto, Peter M Krawitz, Elsa Rossignol, Taroh Kinoshita, Philippe M Campeau

PEDIA: prioritization of exome data by image analysis.

05/06/2019 Genetics in medicine : official journal of the American College of Medical Genetics

Authors: Tzung-Chien Hsieh, Martin A Mensah, Jean T Pantel, Dione Aguilar, Omri Bar, Allan Bayat, Luis Becerra-Solano, Heidi B Bentzen, Saskia Biskup, Oleg Borisov, Oivind Braaten, Claudia Ciaccio, Marie Coutelier, Kirsten Cremer, Magdalena Danyel, Svenja Daschkey, Hilda David Eden, Koenraad Devriendt, Sandra Wilson, Sofia Douzgou, Dejan Đukić, Nadja Ehmke, Christine Fauth, Björn Fischer-Zirnsak, Nicole Fleischer, Heinz Gabriel, Luitgard Graul-Neumann, Karen W Gripp, Yaron Gurovich, Asya Gusina, Nechama Haddad, Nurulhuda Hajjir, Yair Hanani, Jakob Hertzberg, Konstanze Hoertnagel, Janelle Howell, Ivan Ivanovski, Angela Kaindl, Tom Kamphans, Susanne Kamphausen, Catherine Karimov, Hadil Kathom, Anna Keryan, Alexej Knaus, Sebastian Köhler, Uwe Kornak, Alexander Lavrov, Maximilian Leitheiser, Gholson J Lyon, Elisabeth Mangold, Purificación Marín Reina, Antonio Martinez Carrascal, Diana Mitter, Laura Morlan Herrador, Guy Nadav, Markus Nöthen, Alfredo Orrico, Claus-Eric Ott, Kristen Park, Borut Peterlin, Laura Pölsler, Annick Raas-Rothschild, Linda Randolph, Nicole Revencu, Christina Ringmann Fagerberg, Peter Nick Robinson, Stanislav Rosnev, Sabine Rudnik, Gorazd Rudolf, Ulrich Schatz, Anna Schossig, Max Schubach, Or Shanoon, Eamonn Sheridan, Pola Smirin-Yosef, Malte Spielmann, Eun-Kyung Suk, Yves Sznajer, Christian T Thiel, Gundula Thiel, Alain Verloes, Irena Vrecar, Dagmar Wahl, Ingrid Weber, Korina Winter, Marzena Wiśniewska, Bernd Wollnik, Ming W Yeung, Max Zhao, Na Zhu, Johannes Zschocke, Stefan Mundlos, Denise Horn, Peter M Krawitz

PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics.

12/04/2019 Genetics in medicine : official journal of the American College of Medical Genetics

Authors: Allan Bayat, Alexej Knaus, Annika Wollenberg Juul, Dejan Dukic, Elena Gardella, Agnieszka Charzewska, Emma Clement, Helle Hjalgrim, Dorota Hoffman-Zacharska, Denise Horn, Rachel Horton, Jane A Hurst, Dragana Josifova, Line H G Larsen, Karine Lascelles, Ewa Obersztyn, Alistair Pagnamenta, Deb K Pal, Manuela Pendziwiat, Mina Ryten, Jenny Taylor, Julie Vogt, Yvonne Weber, Peter M Krawitz, Ingo Helbig, Usha Kini, Rikke S Møller

The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping.

21/03/2019 American journal of human genetics

Authors: Felix Marbach, Cecilie F Rustad, Angelika Riess, Dejan Đukić, Tzung-Chien Hsieh, Itamar Jobani, Trine Prescott, Andrea Bevot, Florian Erger, Gunnar Houge, Maria Redfors, Janine Altmueller, Tomasz Stokowy, Christian Gilissen, Christian Kubisch, Emanuela Scarano, Laura Mazzanti, Torunn Fiskerstrand, Peter M Krawitz, Davor Lessel, Christian Netzer

Identifying facial phenotypes of genetic disorders using deep learning.

07/01/2019 Nature medicine

Authors: Yaron Gurovich, Yair Hanani, Omri Bar, Guy Nadav, Nicole Fleischer, Dekel Gelbman, Lina Basel-Salmon, Peter M Krawitz, Susanne B Kamphausen, Martin Zenker, Lynne M Bird, Karen W Gripp