List of works by Richard J L F Lemmers

A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1

scientific article published on 11 July 2018

A unifying genetic model for facioscapulohumeral muscular dystrophy

scientific article

Chromosome 10q-linked FSHD identifies <i>DUX4</i> as principal disease gene

scientific article published in 2021

Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.

scientific article

Corrigendum. Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.

scientific article published on February 2016

Corrigendum: Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome

scientific article

DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle

scientific article

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

scientific article (publication date: 11 November 2012)

Early onset as a marker for disease severity in facioscapulohumeral muscular dystrophy

scientific article published on 19 December 2018

Epigenetic regulation of the X-chromosomal macrosatellite repeat encoding for the cancer/testis gene CT47.

scientific article published on 3 August 2011

Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD).

scientific article

Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene

scientific article

Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome

scientific article published on 20 May 2015

Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy

scientific article published on 28 May 2020

Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.

scientific article published on 17 November 2015

Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2. ⬇️

scientific article

Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing

scientific article published on 01 November 2019

MRI-informed muscle biopsies correlate MRI with pathology and DUX4 target gene expression in FSHD

article

Milder phenotype in facioscapulohumeral dystrophy with 7-10 residual D4Z4 repeats

scientific article

Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.

scientific article published on 21 March 2018

Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome

scientific article published on 28 July 2015

Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.

scientific article published on May 2016

Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity.

scientific article published on 7 October 2011

RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy

scientific article (publication date: 9 April 2009)

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

scientific article published on 26 June 2019

SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes

scientific article published on 6 June 2017

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

scientific article (publication date: October 2013)

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