RESEARCHER PROFILE

Grace Rabie

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Bethlehem University

Genomics and Rare DiseasesGenomics and Phylogenetic StudiesBioinformatics and Genomic NetworksHearing, Cochlea, Tinnitus, GeneticsGenetics and Neurodevelopmental Disorders

Grace Rabie works in Genomics and Rare Diseases, Genomics and Phylogenetic Studies, Bioinformatics and Genomic Networks, Hearing, Cochlea, Tinnitus, Genetics, Genetics and Neurodevelopmental Disorders. Recorded institutional associations include Bethlehem University.

12Publications
102Citations
5H-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. Genomic analysis of inherited hearing loss in the Palestinian population

    2020 · 65 citations

  2. Sorting Nexin 10 as a Key Regulator of Membrane Trafficking in Bone-Resorbing Osteoclasts: Lessons Learned From Osteopetrosis

    2021 · 15 citations

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

    2020 · 8 citations

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

    2024 · 7 citations

  5. TP53 missense allele predisposing to high risk of breast cancer but not pediatric cancers

    2024 · 6 citations

  6. A paradoxical genotype-phenotype relationship: Low level of GOSR2 translation from a non-AUG start codon in a family with profound hearing loss

    2023 · 1 citations

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

    2026 · 0 citations

  8. Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome

    2026 · 0 citations

  9. Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking

    2026 · 0 citations

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

    2024 · 0 citations

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