VarSome: the human genomic variant search engine

• A graph-based approach to variant description extraction from sequences

  2025 NAR Genomics and Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access

  0

  citations
• Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism

  2025 Annals of Neurology article Medicine Autophagy in Disease and Therapy Open access

  7

  citations
• POT1 genetic testing in melanoma-prone families in Sweden: germline variant prevalence and tumor spectrum in identified carriers

  2025 Acta Oncologica article Medicine Cutaneous Melanoma Detection and Management Open access

  2

  citations
• Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study

  2025 EBioMedicine article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access

  9

  citations
• NR5A1/SF-1 Collaborates with Inhibin α and the Androgen Receptor

  2024 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access

  3

  citations
• Mutations in EPG5 are associated with a wide spectrum of neurodevelopmental and neurodegenerative disorders

  2024 medRxiv preprint Medicine Autophagy in Disease and Therapy Open access

  5

  citations
• Characterization of 35 Novel NR5A1/SF-1 Variants Identified in Individuals With Atypical Sexual Development: The SF1next Study

  2024 The Journal of Clinical Endocrinology & Metabolism article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access

  10

  citations
• Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development

  2024 EBioMedicine article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access

  42

  citations
• Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations

  2023 PLoS ONE article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access

  11

  citations
• The NR5A1/SF-1 variant p.Gly146Ala cannot explain the phenotype of individuals with a difference of sex development

  2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access

  0

  citations
• A Boolean algebra for genetic variants

  2023 Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  1

  citations
• Genetic pain loss disorders

  2022 Nature Reviews Disease Primers review Neuroscience Hereditary Neurological Disorders Open access cited by 2 patents

  60

  citations
• The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

  2022 Human Mutation article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  60

  citations
• AHDC1 missense mutations in Xia-Gibbs syndrome

  2021 Human Genetics and Genomics Advances article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access

  16

  citations

14 results