Rana Helaby

Riyadh, Saudi Arabia

Last Updated: 09/26/2026

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Found 16 publications

WDR59 Is Mutated in Individuals With Autosomal Recessive Syndromic Dilated Cardiomyopathy.

WDR59 Is Mutated in Individuals With Autosomal Recessive Syndromic Dilated Cardiomyopathy.

Journal: Clinical genetics

Published: November 13, 2025

Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility.

Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility.

Journal: American journal of human genetics

Published: September 16, 2025

SLK is mutated in individuals with a neurodevelopmental disorder.

SLK is mutated in individuals with a neurodevelopmental disorder.

Journal: EBioMedicine

Published: March 12, 2024

A founder variant expands the phenotype of WNT7B-related PDAC syndrome.

A founder variant expands the phenotype of WNT7B-related PDAC syndrome.

Journal: Clinical genetics

Published: December 27, 2023

Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.

Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.

Journal: Genome medicine

Published: July 27, 2023

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

Journal: Nature communications

Published: December 04, 2022

PMEL is mutated in oculocutaneous albinism.

PMEL is mutated in oculocutaneous albinism.

Journal: Human genetics

Published: August 01, 2022

Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement.

Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement.

Journal: Journal of medical genetics

Published: July 19, 2022

Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.

Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.

Journal: Brain : a journal of neurology

Published: December 05, 2021

Residual risk for additional recessive diseases in consanguineous couples.

Residual risk for additional recessive diseases in consanguineous couples.

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

Published: April 19, 2021

Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination.

Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination.

Journal: Molecular genetics & genomic medicine

Published: July 11, 2020

Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits.

Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits.

Journal: Human molecular genetics

Published: June 15, 2020

Showing 1-12 of 16

Last Updated: 09/26/2026