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List of works by Patrick J van der Vliet

A unifying genetic model for facioscapulohumeral muscular dystrophy

scientific article

Adding quantitative muscle MRI to the FSHD clinical trial toolbox

scientific article published on 13 October 2017

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

scientific article published in 2021

Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2

scientific article published on 01 October 2018

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

scientific article published on February 2016

Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2.

scientific article published on 21 November 2017

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)

Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2.

scientific article published on 18 March 2015

FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation

scientific article published on 06 July 2018

Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study

scientific article published on 16 October 2018

Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients

scientific article published on 28 August 2019

Genome-wide analysis of macrosatellite repeat copy number variation in worldwide populations: evidence for differences and commonalities in size distributions and size restrictions

scientific article

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

scientific article published on 20 May 2015

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

Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.

scientific article published on 21 March 2018

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

scientific article published on May 2016

Phenotype-genotype relations in facioscapulohumeral muscular dystrophy type 1

scientific article published on 08 October 2018

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

Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy

scientific article

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

scientific article (publication date: October 2013)

Worldwide population analysis of the 4q and 10q subtelomeres identifies only four discrete interchromosomal sequence transfers in human evolution

scientific article published on 4 March 2010

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