Richard J.L.F. Lemmers

Autosomal dominant <i>in cis</i> D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy

Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation

SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain

Intronic <i>SMCHD1</i> variants in FSHD: testing the potential for CRISPR-Cas9 genome editing

Monosomy 18p is a risk factor for facioscapulohumeral dystrophy

The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2