Basamat M. Almoallem

Riyadh, 12372, Saudi Arabia

Last Updated: 09/26/2026

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Found 15 publications

Heimler Syndrome Caused by Novel PEX6 Variants: Clinical and Genetic Characterization in a Saudi Cohort.

Heimler Syndrome Caused by Novel PEX6 Variants: Clinical and Genetic Characterization in a Saudi Cohort.

Journal: Genes

Published: March 05, 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

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

Clinical Practice, Challenges, and the Future of Ophthalmic Genetics in Saudi Arabia.

Clinical Practice, Challenges, and the Future of Ophthalmic Genetics in Saudi Arabia.

Journal: Journal of ophthalmic & vision research

Published: March 27, 2024

Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform.

Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform.

Journal: Clinical genetics

Published: December 20, 2023

Identification of AIRE pathogenic variants ends diagnostic odyssey for Saudi child with infantile-onset keratoconjunctivitis as an early sign of autoimmune polyglandular syndrome type1; a case report.

Identification of AIRE pathogenic variants ends diagnostic odyssey for Saudi child with infantile-onset keratoconjunctivitis as an early sign of autoimmune polyglandular syndrome type1; a case report.

Journal: Ophthalmic genetics

Published: April 05, 2023

Unique Roberts syndrome with bilateral congenital glaucoma: A case report.

Unique Roberts syndrome with bilateral congenital glaucoma: A case report.

Journal: World journal of clinical cases

Published: December 29, 2022

Unique phenotypic-genotypic correlation in Saudi patients with ALMS1 mutations.

Unique phenotypic-genotypic correlation in Saudi patients with ALMS1 mutations.

Journal: Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society

Published: August 04, 2022

Novel biallelic AHR splice site mutation cause isolated foveal hypoplasia in Saudi patient: a case report.

Novel biallelic AHR splice site mutation cause isolated foveal hypoplasia in Saudi patient: a case report.

Journal: Ophthalmic genetics

Published: February 21, 2022

Oculocerebrocutaneous syndrome (Delleman Oorthuys syndrome) associated with congenital glaucoma: A case report.

Oculocerebrocutaneous syndrome (Delleman Oorthuys syndrome) associated with congenital glaucoma: A case report.

Journal: European journal of ophthalmology

Published: November 05, 2020

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.

Journal: American journal of human genetics

Published: September 05, 2020

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.

Journal: American journal of human genetics

Published: March 06, 2020

Showing 1-12 of 15

Last Updated: 09/26/2026