Mais O. Hashem

Riyadh, Saudi Arabia

Last Updated: 09/26/2026

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Found 119 publications

An Ancient Founder GDF2 Variant Potentially Causes Semi-Dominant Non-Syndromic Pulmonary Arterial Hypertension.

An Ancient Founder GDF2 Variant Potentially Causes Semi-Dominant Non-Syndromic Pulmonary Arterial Hypertension.

Journal: Clinical genetics

Published: February 14, 2026

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype.

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype.

Journal: medRxiv : the preprint server for health sciences

Published: December 03, 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

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.

Journal: Nature communications

Published: October 17, 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

Succinate supplementation ameliorates musculoskeletal defects caused by PLOD3 mutations in a BCARD syndrome model.

Succinate supplementation ameliorates musculoskeletal defects caused by PLOD3 mutations in a BCARD syndrome model.

Journal: Genome medicine

Published: August 22, 2025

Distinct pathophysiological mechanisms of CEP152 variants in microcephaly and brain abnormalities.

Distinct pathophysiological mechanisms of CEP152 variants in microcephaly and brain abnormalities.

Journal: EMBO molecular medicine

Published: May 11, 2025

Recessive loss of DIAPH1 function causes a progressive neurodevelopmental syndrome with variable immunological involvement.

Recessive loss of DIAPH1 function causes a progressive neurodevelopmental syndrome with variable immunological involvement.

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

Published: May 05, 2025

Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological Involvement.

Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological Involvement.

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

Published: May 05, 2025

Disease characteristics of SEPSECS deficiency: an international, retrospective, multicenter cohort study.

Disease characteristics of SEPSECS deficiency: an international, retrospective, multicenter cohort study.

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

Published: April 02, 2025

ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration.

ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration.

Journal: Brain : a journal of neurology

Published: November 06, 2024

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

Showing 1-12 of 119

Last Updated: 09/26/2026