Abdulrahman F. Alswaid

Riyadh, Saudi Arabia

Last Updated: 09/26/2026

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Found 37 publications

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

Truncated SPAG9 as a novel candidate gene for a new syndrome: Coarse facial features, albinism, cataract and developmental delay (CACD syndrome).

Truncated SPAG9 as a novel candidate gene for a new syndrome: Coarse facial features, albinism, cataract and developmental delay (CACD syndrome).

Journal: Genetics and molecular biology

Published: May 14, 2024

Consanguinity and Occurrence of Monogenic Diseases in a Single Tertiary Centre in Riyadh, Saudi Arabia: A 2 Years Cross-Sectional Study.

Consanguinity and Occurrence of Monogenic Diseases in a Single Tertiary Centre in Riyadh, Saudi Arabia: A 2 Years Cross-Sectional Study.

Journal: The application of clinical genetics

Published: April 30, 2024

Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia.

Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia.

Journal: American journal of human genetics

Published: May 28, 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

AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia.

AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia.

Journal: American journal of human genetics

Published: April 07, 2023

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.

Journal: Brain : a journal of neurology

Published: May 18, 2022

The variant artificial intelligence easy scoring (VARIES) system.

The variant artificial intelligence easy scoring (VARIES) system.

Journal: Computers in biology and medicine

Published: October 07, 2021

Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial.

Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial.

Journal: Orphanet journal of rare diseases

Published: May 27, 2021

Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.

Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.

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

Published: January 05, 2021

The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data.

The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data.

Journal: Frontiers in pediatrics

Published: November 25, 2020

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Last Updated: 09/26/2026