Jumana Y. Aama-Al

7393 Al Malae'b St
Jeddah, 22252, Saudi Arabia

Last Updated: 09/26/2026

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Found 96 publications

Combined RNA Splicing and Patch-Clamp Analysis Reveal Pathogenicity of Splice-Altering Variants in KCNH2-Related LQTS.

Combined RNA Splicing and Patch-Clamp Analysis Reveal Pathogenicity of Splice-Altering Variants in KCNH2-Related LQTS.

Journal: Circulation. Genomic and precision medicine

Published: March 25, 2025

Identification of a de novo LRP1 mutation in a Saudi family with Tetralogy of Fallot.

Identification of a de novo LRP1 mutation in a Saudi family with Tetralogy of Fallot.

Journal: Gene

Published: May 27, 2022

Discordance Between Germline and Blood Mosaicism in Calmodulinopathy.

Discordance Between Germline and Blood Mosaicism in Calmodulinopathy.

Journal: Circulation. Genomic and precision medicine

Published: May 11, 2022

Retinal pigment epithelium extracellular vesicles are potent inducers of age-related macular degeneration disease phenotype in the outer retina.

Retinal pigment epithelium extracellular vesicles are potent inducers of age-related macular degeneration disease phenotype in the outer retina.

Journal: Journal of extracellular vesicles

Published: March 04, 2022

Genome-Wide Association Study-Guided Exome Rare Variant Burden Analysis Identifies IL1R1 and CD3E as Potential Autoimmunity Risk Genes for Celiac Disease.

Genome-Wide Association Study-Guided Exome Rare Variant Burden Analysis Identifies IL1R1 and CD3E as Potential Autoimmunity Risk Genes for Celiac Disease.

Journal: Frontiers in pediatrics

Published: December 17, 2021

Activation of autophagy reverses progressive and deleterious protein aggregation in PRPF31 patient-induced pluripotent stem cell-derived retinal pigment epithelium cells.

Activation of autophagy reverses progressive and deleterious protein aggregation in PRPF31 patient-induced pluripotent stem cell-derived retinal pigment epithelium cells.

Journal: Clinical and translational medicine

Published: October 17, 2021

Exploring the role of Islam on the lived experience of patients with Long QT Syndrome in Saudi Arabia.

Exploring the role of Islam on the lived experience of patients with Long QT Syndrome in Saudi Arabia.

Journal: Journal of genetic counseling

Published: October 04, 2021

pRB-Depleted Pluripotent Stem Cell Retinal Organoids Recapitulate Cell State Transitions of Retinoblastoma Development and Suggest an Important Role for pRB in Retinal Cell Differentiation.

pRB-Depleted Pluripotent Stem Cell Retinal Organoids Recapitulate Cell State Transitions of Retinoblastoma Development and Suggest an Important Role for pRB in Retinal Cell Differentiation.

Journal: Stem cells translational medicine

Published: September 20, 2021

Novel MYO1D Missense Variant Identified Through Whole Exome Sequencing and Computational Biology Analysis Expands the Spectrum of Causal Genes of Laterality Defects.

Novel MYO1D Missense Variant Identified Through Whole Exome Sequencing and Computational Biology Analysis Expands the Spectrum of Causal Genes of Laterality Defects.

Journal: Frontiers in medicine

Published: June 14, 2021

Pre-mRNA Processing Factors and Retinitis Pigmentosa: RNA Splicing and Beyond.

Pre-mRNA Processing Factors and Retinitis Pigmentosa: RNA Splicing and Beyond.

Journal: Frontiers in cell and developmental biology

Published: April 25, 2021

Saudi Familial Hypercholesterolemia Patients With Rare LDLR Stop Gain Variant Showed Variable Clinical Phenotype and Resistance to Multiple Drug Regimen.

Saudi Familial Hypercholesterolemia Patients With Rare LDLR Stop Gain Variant Showed Variable Clinical Phenotype and Resistance to Multiple Drug Regimen.

Journal: Frontiers in medicine

Published: April 13, 2021

TagSNP approach for HLA risk allele genotyping of Saudi celiac disease patients: effectiveness and pitfalls.

TagSNP approach for HLA risk allele genotyping of Saudi celiac disease patients: effectiveness and pitfalls.

Journal: Bioscience reports

Published: February 28, 2021

Showing 1-12 of 96

Last Updated: 09/26/2026