Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines
Emiliano Giardina(University of Rome Tor Vergata), Richard J.L.F. Lemmers(Leiden University Medical Center), Nienke van der Stoep(Leiden University Medical Center), Pilar Camaño(Instituto de Salud Carlos III), Piraye Oflazer(Koç University), Patrick J. van der Vliet(Leiden University Medical Center), Victoria Williams(University of Manchester), Valérie Race(Universitair Ziekenhuis Leuven), Steven A. Moore(University of Iowa), Mark R. Davis(Pathwest Laboratory Medicine), Franclo Henning(Western Cape Department of Health), Pedro José Tomaselli(Universidade de São Paulo), Rafaëlle Bernard(Inserm), Ichizo Nishino(National Center of Neurology and Psychiatry), Gianina Ravenscroft(Harry Perkins Institute of Medical Research), Cláudia Ferreira da Rosa Sobreira(Universidade de São Paulo), Venugopalan Y. Vishnu(All India Institute of Medical Sciences), Frédérique Magdinier, Silvère M. van der Maarel(Leiden University Medical Center), Sarah Burton‐Jones(Southmead Hospital), Nicol C. Voermans(Radboud University Nijmegen)
Cited by 43
Related Papers
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1
|Nature Genetics|2010|1.1k
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
|Nature|2000|941
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
|Science Translational Medicine|2017|809
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
|Nature Genetics|2019|592