Grace N. Rabie

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

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

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

Journal: American journal of human genetics

Published: September 26, 2025

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

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

Journal: American journal of human genetics

Published: August 13, 2025

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

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

Journal: Journal of the National Cancer Institute

Published: July 30, 2024

The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.

The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.

Journal: Human genetics

Published: October 18, 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

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

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

Journal: Human molecular genetics

Published: March 25, 2023

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

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

Journal: Frontiers in cell and developmental biology

Published: February 23, 2021

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

Showing 1-10 of 10

Last Updated: 09/26/2026