Heterozygous Variants in the DNA-binding Domain of c-Myb May Affect Normal B/T Cell Development by Bas M. Smits, Taila Hartley, Ester Dünnebach, Marije Bartels, Kim M. Boycott, Kirstin D. Kernohan, David A. Dyment, Jacques C. Giltay, Elie Haddad, Olga Jarinova, Joris van Montfrans, Annet van Royen-Kerkhof, Lars T. van der Veken, Moniek de Witte, Stefan Nierkens, Anne Pham-Huy, Helen L. Leavis

Get full text

The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile by Michelle M. Lee, Graeme S. V. McDowell, Darryl C. De Vivo, Daniel Friedman, Samuel F. Berkovic, Maria Spanou, Argirios Dinopoulos, Katheryn Grand, Pedro A. Sanchez‐Lara, Michelle Allen‐Sharpley, Jodi Warman‐Chardon, Alexander Solyom, Thierry Levade, Edward H. Schuchman, Steffany A. L. Bennett, David A. Dyment, Toni S. Pearson

Get full text

Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy by Sandra Donkervoort, Payam Mohassel, Melanie O'Leary, Devon E. Bonner, Taila Hartley, Nicole Acquaye, Astrid Brull, Tahseen Mozaffar, Mario A. Saporta, David A. Dyment, Jacinda B. Sampson, Sander Pajusalu, Christina Austin‐Tse, Kyle Hurth, Julie S. Cohen, Kirsty McWalter, Jodi Warman‐Chardon, Amy Crunk, A. Reghan Foley, Undiagnosed Diseases Network, Andrew L. Mammen, Matthew T. Wheeler, Anne O'Donnell‐Luria, Carsten G. Bönnemann

Get full text