MutationTaster evaluates disease-causing potential of sequence alterations

• Investigating genetic susceptibility to concussion through rare variants in ion channel and neurotransmission genes

  2026 Journal of Neurology article Medicine Traumatic Brain Injury Research Open access

  0

  citations
• Investigating vulnerability to concussion through rare ion channel and neurotransmitter genetic variants

  2026 Research Square preprint Medicine Traumatic Brain Injury Research Open access

  0

  citations
• Dominant-negative PSMB10 disrupts immunoproteasome assembly and leads to transient T lymphopenia

  2026 Journal of Human Immunity article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access

  2

  citations
• Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients

  2024 Investigative Ophthalmology & Visual Science article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access

  28

  citations
• PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

  2023 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access cited by 1 patent

  82

  citations
• Deep structured learning for variant prioritization in Mendelian diseases

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

  46

  citations
• Genome-wide association study reveals loci with sex-specific effects on plasma bile acids

  2022 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access

  0

  citations
• PhenoScore: AI-based phenomics to quantify rare disease and genetic variation

  2022 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  6

  citations
• Genetic pain loss disorders

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

  60

  citations
• Coding and regulatory variants are associated with serum protein levels and disease

  2022 Nature Communications article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access

  55

  citations
• Delineating the molecular and phenotypic spectrum of the SETD1B -related syndrome

  2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access

  0

  citations
• A new gene associated with a β-thalassemia phenotype: the observation of variants in SUPT5H

  2020 Blood article Medicine Hemoglobinopathies and Related Disorders Open access

  28

  citations
• Coding and regulatory variants affect serum protein levels and common disease

  2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access

  9

  citations

13 results