Christina Canavati

Bethlehem, WBK, Palestine

Last Updated: 09/26/2026

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Found 10 publications

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

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

Journal: BMC medical genomics

Published: February 02, 2026

CladeOScope-GSA: Revealing Evolutionary Associations Across Gene Sets.

CladeOScope-GSA: Revealing Evolutionary Associations Across Gene Sets.

Journal: International journal of molecular sciences

Published: November 24, 2025

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

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

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: July 15, 2025

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).

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).

Journal: Circulation

Published: January 16, 2024

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

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

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 07, 2023

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

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

Journal: Genome medicine

Published: April 29, 2023

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

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

Journal: medRxiv : the preprint server for health sciences

Published: March 03, 2023

Genomic analysis of inherited hearing loss in the Palestinian population.

Genomic analysis of inherited hearing loss in the Palestinian population.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: August 05, 2020

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

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

Journal: Cold Spring Harbor molecular case studies

Published: June 10, 2020

Inclusion of hemimegalencephaly into the phenotypic spectrum of NPRL3 pathogenic variants in familial focal epilepsy with variable foci.

Inclusion of hemimegalencephaly into the phenotypic spectrum of NPRL3 pathogenic variants in familial focal epilepsy with variable foci.

Journal: Epilepsia

Published: January 29, 2019

Showing 1-10 of 10

Last Updated: 09/26/2026