Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era

by Ataf H. Sabir, Elizabeth Morley, Jameela Sheikh, Alistair D. Calder, Ana Beleza-Meireles, Moira S. Cheung, Alessandra Cocca, Mattias Jansson, Suzanne Lillis, Yogen Patel, Shu Yau, Christine M. Hall, Amaka C. Offiah, Melita Irving
Published 2021-06-01

Osteocyte transcriptome mapping identifies a molecular landscape controlling skeletal homeostasis and susceptibility to skeletal disease

by Scott E. Youlten, John P. Kemp, John G. Logan, Elena J. Ghirardello, Claudio M. Sergio, Michael R. G. Dack, Siobhan E. Guilfoyle, Victoria D. Leitch, Natalie C. Butterfield, Davide Komla-Ebri, Ryan C. Chai, Alexander P. Corr, James T. Smith, Sindhu T. Mohanty, John A. Morris, Michelle M. McDonald, Julian M. W. Quinn, Amelia R. McGlade, Nenad Bartonicek, Matt Jansson, Konstantinos Hatzikotoulas, Melita D. Irving, Ana Beleza-Meireles, Fernando Rivadeneira, Emma Duncan, J. Brent Richards, David J. Adams, Christopher J. Lelliott, Robert Brink, Tri Giang Phan, John A. Eisman, David M. Evans, Eleftheria Zeggini, Paul A. Baldock, J. H. Duncan Bassett, Graham R. Williams, Peter I. Croucher
Published 2021-05-01

Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

by Ilaria Mannucci, Nghi D. P. Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff, Siddharth Banka, Gareth Baynam, David Bearden, Ana Beleza-Meireles, Paul J. Benke, Siren Berland, Tatjana Bierhals, Frederic Bilan, Laurence A. Bindoff, Geir Julius Braathen, Øyvind L. Busk, Jirat Chenbhanich, Jonas Denecke, Luis F. Escobar, Caroline Estes, Julie Fleischer, Daniel Groepper, Charlotte A. Haaxma, Maja Hempel, Yolanda Holler-Managan, Gunnar Houge, Adam Jackson, Laura Kellogg, Boris Keren, Catherine Kiraly-Borri, Cornelia Kraus, Christian Kubisch, Gwenael Le Guyader, Ulf W. Ljungblad, Leslie Manace Brenman, Julian A. Martinez-Agosto, Matthew Might, David T. Miller, Kelly Q. Minks, Billur Moghaddam, Caroline Nava, Stanley F. Nelson, John M. Parant, Trine Prescott, Farrah Rajabi, Hanitra Randrianaivo, Simone F. Reiter, Janneke Schuurs-Hoeijmakers, Perry B. Shieh, Anne Slavotinek, Sarah Smithson, Alexander P. A. Stegmann, Kinga Tomczak, Kristian Tveten, Jun Wang, Jordan H. Whitlock, Christiane Zweier, Kirsty McWalter, Jane Juusola, Fabiola Quintero-Rivera, Utz Fischer, Nan Cher Yeo, Hans-Jürgen Kreienkamp, Davor Lessel
Published 2021-05-01