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

• Resolution of the D4Z4 repeat responsible for facioscapulohumeral muscular dystrophy with HiFi sequencing

  2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  0

  citations
• Double trouble: a comprehensive study into unrelated genetic comorbidities in adult patients with Facioscapulohumeral Muscular Dystrophy Type I

  2025 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access

  15

  citations
• Double Trouble: A Comprehensive Study Into Unrelated Genetic Comorbidities in Adult Patients with Facioscapuluhumeral Muscular Dystrophy Type I

  2024 Research Square preprint Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access

  0

  citations
• Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines

  2024 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access

  48

  citations
• The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India

  2024 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access

  11

  citations
• Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges

  2023 Biomolecules article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access

  23

  citations
• Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy

  2023 Brain article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access cited by 1 patent

  19

  citations
• DUX4 expression in cancer induces a metastable early embryonic totipotent program

  2023 Cell Reports article Biochemistry, Genetics and Molecular Biology Pluripotent Stem Cells Research Open access cited by 1 patent

  19

  citations
• SMCHD1 and LRIF1 converge at the FSHD-associated D4Z4 repeat and LRIF1 promoter yet display different modes of action

  2023 Communications Biology article Biochemistry, Genetics and Molecular Biology Genomics and Chromatin Dynamics Open access

  9

  citations
• 268th ENMC workshop - Genetic diagnosis, clinical classification, outcome measures, and biomarkers in Facioscapulohumeral Muscular Dystrophy (FSHD): Relevance for clinical trials

  2023 Neuromuscular Disorders article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access

  19

  citations
• Facioscapulohumeral muscular dystrophy: the road to targeted therapies

  2023 Nature Reviews Neurology review Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access

  68

  citations
• High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect

  2021 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access cited by 1 patent

  17

  citations
• Adenine base editing of the DUX4 polyadenylation signal for targeted genetic therapy in facioscapulohumeral muscular dystrophy

  2021 Molecular Therapy — Nucleic Acids article Biochemistry, Genetics and Molecular Biology CRISPR and Genetic Engineering Open access cited by 2 patents

  23

  citations
• Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene

  2021 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access cited by 7 patents

  44

  citations
• Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy

  2020 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access cited by 1 patent

  75

  citations

15 results