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  • 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

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  • Glycolytic activity in human immune cells: inter-individual variation and functional implications during health and diabetes.

    Immunometabolism (Cobham, Surrey)

    Authors: Frank Vrieling, Xanthe A M H van Dierendonck, Martin Jaeger, Anna W M Janssen, Anneke Hijmans, Mihai G Netea, Cees J Tack, Rinke Stienstra

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  • Correction: Tagger-A Swiss army knife for multiomics to dissect cell type-specific mechanisms of gene expression in mice.

    PLoS biology

    Authors: Lech Kaczmarczyk, Vikas Bansal, Ashish Rajput, Raza-Ur Rahman, Wiesław Krzyżak, Joachim Degen, Stefanie Poll, Martin Fuhrmann, Stefan Bonn, Walker Scot Jackson

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  • Publication categories: 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

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  • Exploratory analysis of interleukin-38 in hospitalized COVID-19 patients.

    Immunity, inflammation and disease

    Authors: Dennis M de Graaf, Lisa U Teufel, Aline H de Nooijer, Adriaan J van Gammeren, Antonius A M Ermens, Ildikó O Gaál, Tania O Crișan, Frank L van de Veerdonk, Mihai G Netea, Charles A Dinarello, Leo A B Joosten, Rob J W Arts

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  • Publication categories: Top publication

    P38 kinases mediate NLRP1 inflammasome activation after ribotoxic stress response and virus infection.

    The Journal of experimental medicine

    Authors: Lea-Marie Jenster, Karl-Elmar Lange, Sabine Normann, Anja vom Hemdt, Jennifer D Wuerth, Lisa D J Schiffelers, Yonas M Tesfamariam, Florian N Gohr, Laura Klein, Ines H Kaltheuner, Stefan Ebner, Dorothee J Lapp, Jacob Mayer, Jonas Moecking, Hidde L Ploegh, Eicke Latz, Felix Meissner, Matthias Geyer, Beate M Kümmerer, Florian I Schmidt

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  • Description of Antimicrobial Resistance Patterns at the National Institute of Hygiene in Lome, Togo.

    Japanese journal of infectious diseases

    Authors: Gnatoulma Katawa, Adodo Sadji, Gérard Akouétévi Toudji, Kossi Touglo, Pélagie Edlom Tchadié, Manuel Ritter, Wemboo Halatoko, Christèle Nguepou Tchopba, Marthe Oukoé Amessoudji, Marijo Parcina, Achim Hoerauf, Damintoti Simplice Karou, Yaovi Ameyapoh

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  • Eosinophils in filarial infections: Inducers of protection or pathology?

    Frontiers in immunology

    Authors: Alexandra Ehrens, Achim Hoerauf, Marc P Hübner

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  • No serological evidence for neuronal damage or reactive gliosis in neuro-COVID-19 patients with long-term persistent headache.

    Neurological research and practice

    Authors: Laura de Boni, Alexandru Odainic, Natalie Gancarczyk, Luisa Kaluza, Christian P Strassburg, Xenia A K Kersting, Joseph M Johnson, Ullrich Wüllner, Susanne V Schmidt, Jacob Nattermann, Gabor C Petzold

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  • Intravenous thrombolysis upon flow restoration improves outcome in endovascular thrombectomy.

    Journal of neurointerventional surgery

    Authors: Johannes M Weller, Franziska Dorn, Gabor C Petzold, Felix J Bode

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