Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1)

by Meredith, Christopher, Herrmann, Ralf, Parry, Cheryl, Liyanage, Khema, Dye, Danielle E., Durling, Hayley J., Duff, Rachael M., Beckman, Kaye, DeVisser, Marianne, Vander Graaff, Maaike M., Hedera, Peter, Fink, John K., Petty, Elizabeth M., Lamont, Phillipa, Fabian, Vicki, Bridges, Leslie, Voit, Thomas, Mastaglia, Frank L., Laing, Nigel G.
Published 2004

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

by Cummings, Beryl, Marshall, Jamie L., Tukiainen, Taru, Lek, Monkol, Donkervoort, Sandra, Foley, A. Reghan, Bolduc, Veronique, Waddell, Leigh B., Sandaradura, Sarah A., O'Grady, Gina L., Estrella, Elicia, Reddy, Hemakumar M., Zhao, Fengmei, Weisburd, Ben, Karczewski, Konrad, O'Donnell-Luria, Anne H., Birnbaum, Daniel, Sarkozy, Anna, Hu, Ying, Gonorazky, Hernan, Claeys, Kristl, Joshi, Himanshu, Bournazos, Adam, Oates, Emily C., Ghaoui, Roula, Davis, Mark R., Laing, Nigel G., Topf, Ana, Kang, Peter B., Beggs, Alan H., North, Kathryn N., Straub, Volker, Dowling, James J., Muntoni, Francesco, Clarke, Nigel F., Cooper, Sandra T., Bönnemann, Carsten G., MacArthur, Daniel G.
Published 2020