RESEARCHER PROFILE

Christina Canavati

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C

Bethlehem University

Genomics and Rare DiseasesEpilepsy research and treatmentGenetics and Neurodevelopmental DisordersGenomics and Phylogenetic StudiesGenetic Associations and Epidemiology

Christina Canavati works in Genomics and Rare Diseases, Epilepsy research and treatment, Genetics and Neurodevelopmental Disorders, Genomics and Phylogenetic Studies, Genetic Associations and Epidemiology. Recorded institutional associations include Bethlehem University, Hebrew University of Jerusalem.

23Publications
897Citations
8H-index

ORCID

Inclusion identifies researchers whose recorded research contributions may inform their university’s understanding of its research community. It does not rank individual research quality or establish current employment.

Selected research works

Up to 100 highly cited works; DOI links open the original research. Counts reflect the collected record, not real-time citation totals.

  1. Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

    2019 · 297 citations

  2. GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

    2023 · 219 citations

  3. Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects

    2020 · 79 citations

  4. Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

    2024 · 72 citations

  5. Genomic analysis of inherited hearing loss in the Palestinian population

    2020 · 65 citations

  6. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

    2021 · 57 citations

  7. Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

    2023 · 55 citations

  8. Distinct gene-set burden patterns underlie common generalized and focal epilepsies

    2021 · 18 citations

  9. Pathogenic Variants of Scavenger Receptor CD36 Lead to Decreased Efferocytosis and Predispose to Myocarditis Following Vaccination With Pfizer-BioNTech BNT162b2 Against Coronavirus Infection (COVID-19)

    2024 · 8 citations

  10. Helicase-inactivating BRIP1 mutation yields Fanconi anemia with microcephaly and other congenital abnormalities

    2020 · 8 citations

  11. Using multi-scale genomics to associate poorly annotated genes with rare diseases

    2024 · 7 citations

  12. Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

    2024 · 5 citations

  13. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

    2021 · 4 citations

  14. Biallelic SUPT4H1 variants cause a multisystem neurodevelopmental disorder associated with disrupted transcription

    2026 · 1 citations

  15. CladeOScope-GSA: Revealing Evolutionary Associations Across Gene Sets

    2026 · 1 citations

  16. A founder variant in TANGO2 p.(Leu148Trp) in ten Palestinian families: clinical characterization and haplotype analysis of TANGO2 deficiency disorder

    2026 · 0 citations

  17. CladeOScope-GSA: A Tool for Predicting Functional Gene Interactions via Phylogenetic Profiling

    2025 · 0 citations

  18. Additional file 1 of Using multi-scale genomics to associate poorly annotated genes with rare diseases

    2024 · 0 citations

  19. Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

    2024 · 0 citations

  20. GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

    2023 · 0 citations

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