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  • Hematologist-Level Classification of Mature B-Cell Neoplasm Using Deep Learning on Multiparameter Flow Cytometry Data.

    Cytometry. Part A : the journal of the International Society for Analytical Cytology

    Authors: Max Zhao, Nanditha Mallesh, Alexander Höllein, Richard Schabath, Claudia Haferlach, Torsten Haferlach, Franz Elsner, Hannes Lüling, Peter Krawitz, Wolfgang Kern

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

    Translational vision science & technology

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

  • Integrative analysis of key candidate genes and signaling pathways in autoimmune thyroid dysfunction related to anti-CTLA-4 therapy by bioinformatics.

    Investigational new drugs

    Authors: Ying Zhang, Francesca Garofano, Xiaolong Wu, Matthias Schmid, Peter Krawitz, Markus Essler, Ingo G H Schmidt-Wolf

  • Lessons learned from 40 novel PIGA patients and a review of the literature.

    Epilepsia

    Authors: Allan Bayat, Alexej Knaus, Manuela Pendziwiat, Alexandra Afenjar, Tahsin Stefan Barakat, Friedrich Bosch, Bert Callewaert, Patrick Calvas, Berten Ceulemans, Nicolas Chassaing, Christel Depienne, Milda Endziniene, Carlos R Ferreira, Carolina Fischinger Moura de Souza, Cécile Freihuber, Shiva Ganesan, Svetlana Gataullina, Renzo Guerrini, Anne-Marie Guerrot, Lars Hansen, Aleksandra Jezela-Stanek, Caroline Karsenty, Anneke Kievit, Frank R Kooy, Christian M Korff, Johanne Kragh Hansen, Martin Larsen, Valérie Layet, Gaetan Lesca, Kim L McBride, Marije Meuwissen, Cyril Mignot, Martino Montomoli, Hannah Moore, Sophie Naudion, Caroline Nava, Marie-Christine Nougues, Elena Parrini, Matthew Pastore, Jurgen H Schelhaas, Steven Skinner, Krzysztoł Szczałuba, Ashley Thomas, Mads Thomassen, Lisbeth Tranebjaerg, Marjon van Slegtenhorst, Lynne A Wolfe, Dennis Lal, Elena Gardella, Lilian Bomme Ousager, Tobias Brünger, Ingo Helbig, Peter Krawitz, Rikke S Møller

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

    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.

    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.

    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.

    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.

    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.

    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