Facioscapulohumeral Muscular Dystrophy

• 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
• 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
• 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
• Validation of the association between MRI and gene signatures in facioscapulohumeral dystrophy muscle: implications for clinical trial design

  2023 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access

  2

  citations
• Meeting report: the 2021 FSHD International Research Congress

  2022 Skeletal Muscle article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access cited by 2 patents

  23

  citations
• Elevated plasma complement components in facioscapulohumeral dystrophy

  2021 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access

  21

  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

7 results