Sarar H. Mohamed

Riyadh, Saudi Arabia

Last Updated: 09/26/2026

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Found 67 publications

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

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

Impact of glycerol phenylbutyrate on biochemistry and outcomes in paediatric patients with urea cycle disorders: a multicentre case series from Saudi Arabia.

Impact of glycerol phenylbutyrate on biochemistry and outcomes in paediatric patients with urea cycle disorders: a multicentre case series from Saudi Arabia.

Journal: Orphanet journal of rare diseases

Published: March 30, 2025

A homozygous variant in FGFR3 causing lethal skeletal dysplasia.

A homozygous variant in FGFR3 causing lethal skeletal dysplasia.

Journal: Sudanese journal of paediatrics

Published: January 01, 2025

Report of DeSanto-Shinawi Syndrome in Three Boys With Two Novel Variants in the WAC Gene and Expansion of the Phenotype.

Report of DeSanto-Shinawi Syndrome in Three Boys With Two Novel Variants in the WAC Gene and Expansion of the Phenotype.

Journal: Cureus

Published: October 04, 2024

Prenatal Diagnosis of c.437-1G>A Mutation in the MAN2B1 Gene in a Family With Alpha-Mannosidosis: Unraveling Clinical Presentation and Treatment Outcomes in a Novel Prenatal Case.

Prenatal Diagnosis of c.437-1G>A Mutation in the MAN2B1 Gene in a Family With Alpha-Mannosidosis: Unraveling Clinical Presentation and Treatment Outcomes in a Novel Prenatal Case.

Journal: Cureus

Published: April 24, 2024

Clinical, biochemical and molecular characteristics of classic homocystinuria in Saudi Arabia and the impact of newborn screening on prevention of the complications: A tertiary center experience.

Clinical, biochemical and molecular characteristics of classic homocystinuria in Saudi Arabia and the impact of newborn screening on prevention of the complications: A tertiary center experience.

Journal: JIMD reports

Published: March 28, 2024

Cystic Lung Changes, Bronchiectasis, and a Heterozygous-Primary Ciliary Dyskinesia-Associated Variant in the DNAH5 Gene: A Diagnostic Challenge.

Cystic Lung Changes, Bronchiectasis, and a Heterozygous-Primary Ciliary Dyskinesia-Associated Variant in the DNAH5 Gene: A Diagnostic Challenge.

Journal: The American journal of case reports

Published: March 24, 2024

A Niemann-Pick Disease Type C2 with Severe Pulmonary Involvement and Limited Therapeutic Options: A Case Report.

A Niemann-Pick Disease Type C2 with Severe Pulmonary Involvement and Limited Therapeutic Options: A Case Report.

Journal: Children (Basel, Switzerland)

Published: November 01, 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

A novel variant of RBCK1 gene causes mild polyglucosan myopathy.

A novel variant of RBCK1 gene causes mild polyglucosan myopathy.

Journal: Neurosciences (Riyadh, Saudi Arabia)

Published: August 24, 2021

Showing 1-12 of 67

Last Updated: 09/26/2026