Khadijah H. Bakur

Riyadh, Saudi Arabia

Last Updated: 09/26/2026

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Found 16 publications

Further Support of Autosomal Recessive CSF3-Related Severe Congenital Neutropenia.

Further Support of Autosomal Recessive CSF3-Related Severe Congenital Neutropenia.

Journal: Clinical genetics

Published: May 03, 2026

Expanding the ABCA2-associated neurodevelopmental phenotype.

Expanding the ABCA2-associated neurodevelopmental phenotype.

Journal: HGG advances

Published: February 19, 2026

High Throughput Evidence Generation to Support Tentative Gene Disease Relationship from A Cohort Enriched for Autozygosity and Founder Effect.

High Throughput Evidence Generation to Support Tentative Gene Disease Relationship from A Cohort Enriched for Autozygosity and Founder Effect.

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

Published: November 24, 2025

Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.

Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.

Journal: medRxiv : the preprint server for health sciences

Published: November 24, 2025

Bi-allelic RNU6ATAC variants cause a minor spliceopathy characterized by transcriptome-wide minor intron retention and multisystem manifestations.

Bi-allelic RNU6ATAC variants cause a minor spliceopathy characterized by transcriptome-wide minor intron retention and multisystem manifestations.

Journal: HGG advances

Published: November 19, 2025

RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort.

RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort.

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

Published: October 13, 2025

RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort.

RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort.

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

Published: October 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

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

Journal: Nature genetics

Published: September 02, 2025

MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy.

MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy.

Journal: American journal of human genetics

Published: July 14, 2025

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Journal: Genome medicine

Published: April 24, 2025

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

Showing 1-12 of 16

Last Updated: 09/26/2026