Essa Alharby

Medina, 42318, Saudi Arabia

Last Updated: 09/26/2026

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Found 21 publications

Recessive PPTC7 deficiency triggers excessive mitophagy to cause a severe inborn error of metabolism with hypomyelinating leukodystrophy.

Recessive PPTC7 deficiency triggers excessive mitophagy to cause a severe inborn error of metabolism with hypomyelinating leukodystrophy.

Journal: Research square

Published: February 27, 2026

The mTOR-Dop1a-Agpat2 axis regulates nuclear phospholipid homeostasis.

The mTOR-Dop1a-Agpat2 axis regulates nuclear phospholipid homeostasis.

Journal: iScience

Published: August 11, 2025

Biallelic Loss of Function Variant in SEC31A Is Associated With Lethal Neurodevelopmental Disorder, Dysmorphic Features, and Skeletal Defects.

Biallelic Loss of Function Variant in SEC31A Is Associated With Lethal Neurodevelopmental Disorder, Dysmorphic Features, and Skeletal Defects.

Journal: Clinical genetics

Published: October 12, 2024

ME2 Deficiency Is Associated With Recessive Neurodevelopmental Disorder.

ME2 Deficiency Is Associated With Recessive Neurodevelopmental Disorder.

Journal: Clinical genetics

Published: September 06, 2024

Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.

Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.

Journal: Human molecular genetics

Published: July 27, 2023

Biallelic loss of function variant in ZNF808 is associated with non-syndromic neonatal diabetes.

Biallelic loss of function variant in ZNF808 is associated with non-syndromic neonatal diabetes.

Journal: Clinical genetics

Published: April 25, 2023

CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans.

CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans.

Journal: American journal of human genetics

Published: April 20, 2023

Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.

Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.

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

Published: April 26, 2022

A Biallelic Variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth Retardation.

A Biallelic Variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth Retardation.

Journal: Neurology. Genetics

Published: February 20, 2022

Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal-onset diabetes.

Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal-onset diabetes.

Journal: Clinical genetics

Published: December 19, 2020

Progressive Ataxia and Neurologic Regression in RFXANK-Associated Bare Lymphocyte Syndrome.

Progressive Ataxia and Neurologic Regression in RFXANK-Associated Bare Lymphocyte Syndrome.

Journal: Neurology. Genetics

Published: December 08, 2020

Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease.

Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease.

Journal: Journal of human genetics

Published: October 11, 2020

Showing 1-12 of 21

Last Updated: 09/26/2026