Firdous M. Abdulwahab

Riyadh, Saudi Arabia

Last Updated: 09/26/2026

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Found 79 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

MORF4L1, encoding a chromatin remodeler, is mutated in a recognizable dysmorphic neurodevelopmental disorder.

MORF4L1, encoding a chromatin remodeler, is mutated in a recognizable dysmorphic neurodevelopmental disorder.

Journal: Scientific reports

Published: January 29, 2026

Linkage disequilibrium and allelic heterogeneity explain variation in coronary artery disease risk at 9p21 across populations and reduced effect in Africans.

Linkage disequilibrium and allelic heterogeneity explain variation in coronary artery disease risk at 9p21 across populations and reduced effect in Africans.

Journal: American journal of human genetics

Published: November 24, 2025

RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort.

RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort.

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

Published: October 13, 2025

RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort.

RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort.

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

Published: October 13, 2025

Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder.

Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder.

Journal: The Journal of clinical investigation

Published: July 23, 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

NUBP2 deficiency disrupts the centrosome-check point in the brain and causes primary microcephaly.

NUBP2 deficiency disrupts the centrosome-check point in the brain and causes primary microcephaly.

Journal: medRxiv : the preprint server for health sciences

Published: January 27, 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

Structure-Activity Analysis Reveals Perturbed Cilia-Jun N-Terminal Kinase Signaling in MAPKBP1-Associated Kidney Disease.

Structure-Activity Analysis Reveals Perturbed Cilia-Jun N-Terminal Kinase Signaling in MAPKBP1-Associated Kidney Disease.

Journal: Kidney international reports

Published: November 01, 2024

Showing 1-12 of 79

Last Updated: 09/26/2026