A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly by Rasmus Ree, Anni Sofie Geithus, Pernille Mathiesen Tørring, Kristina Pilekær Sørensen, Mads Damkjær, DDD study, Sally Ann Lynch, Thomas Arnesen

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Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations by Carla S. D'Angelo, Azure Hermes, Christopher R. McMaster, Elissa Prichep, Étienne Richer, Francois H. van der Westhuizen, Gabriela M. Repetto, Gong Mengchun, Helen Malherbe, Helen Malherbe, Juergen K. V. Reichardt, Laura Arbour, Maui Hudson, Kelly du Plessis, Melissa Haendel, Phillip Wilcox, Sally Ann Lynch, Sally Ann Lynch, Shamir Rind, Simon Easteal, Xavier Estivill, Yarlalu Thomas, Gareth Baynam, Gareth Baynam, Gareth Baynam, Gareth Baynam, Gareth Baynam, Gareth Baynam, Gareth Baynam, Gareth Baynam

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Rare Disease Research Partnership (RAinDRoP): a collaborative approach to identify research priorities for rare diseases in Ireland [version 2; peer review: 2 approved] by Suja Somanadhan, Emma Nicholson, Emma Dorris, Aoife Brinkley, Avril Kennan, Eileen Treacy, Awan Atif, Sean Ennis, Vicky McGrath, Derick Mitchell, Grace O’Sullivan, Julie Power, Anne Lawlor, Paul Harkin, Sally Ann Lynch, Philip Watt, Avril Daly, Susie Donnelly, Thilo Kroll

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The Role of the European Society of Human Genetics in Delivering Genomic Education by Edward S. Tobias, Edward S. Tobias, Edward S. Tobias, Elena Avram, Elena Avram, Patricia Calapod, Christophe Cordier, Johan T. den Dunnen, Johan T. den Dunnen, Can Ding, Vita Dolzan, Sofia Douzgou Houge, Sofia Douzgou Houge, Sofia Douzgou Houge, Sally Ann Lynch, James O’Byrne, Philippos Patsalis, Philippos Patsalis, Inga Prokopenko, Inga Prokopenko, Celia A. Soares, Celia A. Soares, Adam P. Tobias, William G. Newman, William G. Newman, William G. Newman

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ARF1 prevents aberrant type I interferon induction by regulating STING activation and recycling by Maximilian Hirschenberger, Alice Lepelley, Ulrich Rupp, Susanne Klute, Victoria Hunszinger, Lennart Koepke, Veronika Merold, Blaise Didry-Barca, Fanny Wondany, Tim Bergner, Tatiana Moreau, Mathieu P. Rodero, Reinhild Rösler, Sebastian Wiese, Stefano Volpi, Marco Gattorno, Riccardo Papa, Sally-Ann Lynch, Marte G. Haug, Gunnar Houge, Kristen M. Wigby, Jessica Sprague, Jerica Lenberg, Clarissa Read, Paul Walther, Jens Michaelis, Frank Kirchhoff, Carina C. de Oliveira Mann, Yanick J. Crow, Konstantin M. J. Sparrer

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