Mutation in Prkra results in cerebellar abnormality and reduced eIF2α phosphorylation in a model of DYT-PRKRA by Samuel B. Burnett, Allison M. Culver, Tricia A. Simon, Taylor Rowson, Kenneth Frederick, Kristina Palmer, Stephen A. Murray, Shannon W. Davis, Rekha C. Patel

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Caspase-11 drives macrophage hyperinflammation in models of Polg-related mitochondrial disease by Jordyn J. VanPortfliet, Yuanjiu Lei, Muthumeena Ramanathan, Camila Guerra Martinez, Jessica Wong, Tim J. Stodola, Brian R. Hoffmann, Kathryn Pflug, Raquel Sitcheran, Stephen C. Kneeland, Stephen A. Murray, Peter. J. McGuire, Carolyn L. Cannon, A. Phillip West

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Alternating hemiplegia of childhood associated mutations in Atp1a3 reveal diverse neurological alterations in mice by Markus Terrey, Georgii Krivoshein, Scott I. Adamson, Elena Arystarkhova, Laura Anderson, John Szwec, Shelby McKee, Holly Jones, Sara Perkins, Vijay Selvam, Pierre-Alexandre Piec, Dweet Chhaya, Ari Dehn, Aamir Zuberi, Stephen A. Murray, Natalia S. Morsci, Kathleen J. Sweadner, David A. Knowles, Else A. Tolner, Arn M.J.M. van den Maagdenberg, Cathleen M. Lutz

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Mouse mutant phenotyping at scale reveals novel genes controlling bone mineral density. by Anna L Swan, Christine Schütt, Jan Rozman, Maria Del Mar Muñiz Moreno, Stefan Brandmaier, Michelle Simon, Stefanie Leuchtenberger, Mark Griffiths, Robert Brommage, Piia Keskivali-Bond, Harald Grallert, Thomas Werner, Raffaele Teperino, Lore Becker, Gregor Miller, Ala Moshiri, John R Seavitt, Derek D Cissell, Terrence F Meehan, Elif F Acar, Christopher J Lelliott, Ann M Flenniken, Marie-France Champy, Tania Sorg, Abdel Ayadi, Robert E Braun, Heather Cater, Mary E Dickinson, Paul Flicek, Juan Gallegos, Elena J Ghirardello, Jason D Heaney, Sylvie Jacquot, Connor Lally, John G Logan, Lydia Teboul, Jeremy Mason, Nadine Spielmann, Colin McKerlie, Stephen A Murray, Lauryl M J Nutter, Kristian F Odfalk, Helen Parkinson, Jan Prochazka, Corey L Reynolds, Mohammed Selloum, Frantisek Spoutil, Karen L Svenson, Taylor S Vales, Sara E Wells, Jacqueline K White, Radislav Sedlacek, Wolfgang Wurst, K C Kent Lloyd, Peter I Croucher, Helmut Fuchs, Graham R Williams, J H Duncan Bassett, Valerie Gailus-Durner, Yann Herault, Ann-Marie Mallon, Steve D M Brown, Philipp Mayer-Kuckuk, Martin Hrabe de Angelis, IMPC Consortium

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The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships by Eleanor C. Broeren, Vanessa N. Gitau, Alicia B. Byrne, Pamela Ajuyah, Marie B. Balzotti, Jonathan S. Berg, Krista Bluske, B. Monica Bowen, Matthew P. Brown, Amanda Buchanan, Brendan T. Burns, Nicole J. Burns, Anjana Chandrasekhar, Aditi Chawla, Jessica X. Chong, Maya Chopra, Amanda R. Clause, Marina T. DiStefano, Stephanie DiTroia, Marwa A. Elnagheeb, Amanda N. Girod, Himanshu Goel, Katie L. Golden-Grant, Thuong Ha, Ada Hamosh, Jennifer M. Huang, Madeline Y. Hughes, Saumya S. Jamuar, Sylvia Kam, Akanchha Kesari, Ai Ling Koh, Rhonda N.T. Lassiter, Sarah E. Leigh, Gabrielle Lemire, Jiin Ying Lim, Alka Malhotra, Hannah R. McCurry, Becky Milewski, Shahida Moosa, Stephen A. Murray, Emma H. Owens, Elizabeth E. Palmer, Brooke C. Palus, Mayher J. Patel, Revathi Rajkumar, Julie C. Ratliff, F. Lucy Raymond, Bruno Della Ripa Rodrigues Assis, Samin A. Sajan, Zinayida Schlachetzki, Sarah A. Schmidt, Zornitza Stark, Samuel P. Strom, Julie P. Taylor, Courtney Thaxton, Devon L. Thrush, Sabrina Toro, Kezang C. Tshering, Nicole A. Vasilevsky, Bess Wayburn, Ryan F. Webb, Anne O’Donnell-Luria, Alison J. Coffey

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