Fatema Alzahrani

Riyadh, 11211, Saudi Arabia

Last Updated: 09/26/2026

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Found 37 publications

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

Genomic analysis of multiplex consanguineous families reveals causes of neurodevelopmental disorders with epilepsy.

Genomic analysis of multiplex consanguineous families reveals causes of neurodevelopmental disorders with epilepsy.

Journal: Gene

Published: March 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

A null founder variant in NPNT, encoding nephronectin, causes autosomal recessive renal agenesis.

A null founder variant in NPNT, encoding nephronectin, causes autosomal recessive renal agenesis.

Journal: Clinical genetics

Published: December 16, 2021

Lethal variants in humans: lessons learned from a large molecular autopsy cohort.

Lethal variants in humans: lessons learned from a large molecular autopsy cohort.

Journal: Genome medicine

Published: May 21, 2021

Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish.

Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish.

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

Published: February 11, 2021

Further delineation of SMG9-related heart and brain malformation syndrome.

Further delineation of SMG9-related heart and brain malformation syndrome.

Journal: American journal of medical genetics. Part A

Published: January 11, 2021

A de novo ATXN2L variant in a child with developmental delay and macrocephaly.

A de novo ATXN2L variant in a child with developmental delay and macrocephaly.

Journal: American journal of medical genetics. Part A

Published: November 11, 2020

Generation of iPSC lines (KAUSTi011-A, KAUSTi011-B) from a Saudi patient with epileptic encephalopathy carrying homozygous mutation in the GLP1R gene.

Generation of iPSC lines (KAUSTi011-A, KAUSTi011-B) from a Saudi patient with epileptic encephalopathy carrying homozygous mutation in the GLP1R gene.

Journal: Stem cell research

Published: November 02, 2020

Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans.

Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans.

Journal: American journal of human genetics

Published: June 07, 2020

Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.

Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.

Journal: Genome biology

Published: October 10, 2019

Showing 1-12 of 37

Last Updated: 09/26/2026