Patrick J. van der Vliet
Leiden University Medical Center(NL)
Publications by Year
Research Areas
Muscle Physiology and Disorders, Neurogenetic and Muscular Disorders Research, RNA Research and Splicing, Cardiomyopathy and Myosin Studies, RNA modifications and cancer
Most-Cited Works
- → A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy(2010)763 cited
- → Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2(2012)647 cited
- → Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy(2016)263 cited
- → Specific Sequence Variations within the 4q35 Region Are Associated with Facioscapulohumeral Muscular Dystrophy(2007)234 cited
- → The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1(2013)185 cited
- → Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2(2014)160 cited
- → Worldwide Population Analysis of the 4q and 10q Subtelomeres Identifies Only Four Discrete Interchromosomal Sequence Transfers in Human Evolution(2010)114 cited
- → Adding quantitative muscle MRI to the FSHD clinical trial toolbox(2017)90 cited
- → Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4(2015)69 cited
- → Hemizygosity forSMCHD1in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome(2015)42 cited