October 19, 2007 article Open access Specific Sequence Variations within the 4q35 Region Are Associated with Facioscapulohumeral Muscular Dystrophy The American Journal of Human Genetics DOI: 10.1086/521986 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 12 stored of 247 Search Sort Most cited Newest Oldest Patent citations Title Any typearticle review book-chapter conference-paper preprint dissertation book dataset other Any fieldAgricultural and Biological Sciences Arts and Humanities Biochemistry, Genetics and Molecular Biology Business, Management and Accounting Chemical Engineering Chemistry Computer Science Decision Sciences Dentistry Earth and Planetary Sciences Economics, Econometrics and Finance Energy Engineering Environmental Science Health Professions Immunology and Microbiology Materials Science Mathematics Medicine Neuroscience Nursing Pharmacology, Toxicology and Pharmaceutics Physics and Astronomy Psychology Social Sciences Veterinary Open access 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 Facioscapulohumeral Dystrophy: Molecular Basis and Therapeutic Opportunities 2024 Cold Spring Harbor Perspectives in Biology preprint Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access 9 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 Regional and bilateral MRI and gene signatures in facioscapulohumeral dystrophy: implications for clinical trial design and mechanisms of disease progression 2024 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access cited by 2 patents 21 citations Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome Mapping 2023 Neurology Genetics 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 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 Facioscapulohumeral muscular dystrophy—Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease 2021 Clinical Genetics article Medicine Prenatal Screening and Diagnostics Open access 16 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 12 results Cited by imported patents 1 (EPO, DOI in their cited literature) AGENTS FOR USE IN TREATING FACIOSCAPULOHUMERAL DYSTROPHY (FSHD) 2020 EP3636778A1 +3 publications Chemistry & metallurgy 2 offices References 0