Hisham S. Alkuraya

Riyadh, Saudi Arabia

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 28 publications

Biallelic loss-of-function variants in DSCAM cause a neurodevelopmental syndrome with nystagmus and retinal dysfunction.

Biallelic loss-of-function variants in DSCAM cause a neurodevelopmental syndrome with nystagmus and retinal dysfunction.

Journal: HGG advances

Published: January 17, 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

Arab founder variants: Contributions to clinical genomics and precision medicine.

Arab founder variants: Contributions to clinical genomics and precision medicine.

Journal: Med (New York, N.Y.)

Published: June 17, 2024

Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.

Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.

Journal: Genome medicine

Published: July 27, 2023

The morbid genome of ciliopathies: an update.

The morbid genome of ciliopathies: an update.

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

Published: April 08, 2022

Further delineation of HIDEA syndrome.

Further delineation of HIDEA syndrome.

Journal: American journal of medical genetics. Part A

Published: April 10, 2020

The morbid genome of ciliopathies: an update.

The morbid genome of ciliopathies: an update.

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

Published: November 01, 2019

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

Journal: American journal of human genetics

Published: October 05, 2019

Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome.

Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome.

Journal: Clinical genetics

Published: September 16, 2019

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

Journal: American journal of human genetics

Published: December 19, 2018

Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies.

Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies.

Journal: Clinical genetics

Published: May 10, 2018

Correction to: Expanding the genetic heterogeneity of intellectual disability.

Correction to: Expanding the genetic heterogeneity of intellectual disability.

Journal: Human genetics

Published: December 31, 2017

Showing 1-12 of 28

Last Updated: 09/26/2026