Sateesh Maddirevula

Riyadh, Saudi Arabia

Last Updated: 09/26/2026

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Found 87 publications

A novel MOS variant causes large polar body formation and parthenogenetic activation; case report of an unusual phenomenon leading to female infertility.

A novel MOS variant causes large polar body formation and parthenogenetic activation; case report of an unusual phenomenon leading to female infertility.

Journal: Zygote (Cambridge, England)

Published: May 11, 2026

Human germline biallelic loss-of-function OSMR variants cause severe allergic disease.

Human germline biallelic loss-of-function OSMR variants cause severe allergic disease.

Journal: Journal of human immunity

Published: April 15, 2026

Reducing the burden through early detection: Health-economic impact of gastrointestinal cancers in Saudi Arabia.

Reducing the burden through early detection: Health-economic impact of gastrointestinal cancers in Saudi Arabia.

Journal: Journal of cancer policy

Published: February 17, 2026

Building genomic medicine in Saudi Arabia.

Building genomic medicine in Saudi Arabia.

Journal: Nature genetics

Published: February 10, 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

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

Biallelic STEAP3 Variant in Neonatal Hemophagocytic Lymphohistiocytosis.

Biallelic STEAP3 Variant in Neonatal Hemophagocytic Lymphohistiocytosis.

Journal: Clinical genetics

Published: November 17, 2025

WDR59 Is Mutated in Individuals With Autosomal Recessive Syndromic Dilated Cardiomyopathy.

WDR59 Is Mutated in Individuals With Autosomal Recessive Syndromic Dilated Cardiomyopathy.

Journal: Clinical genetics

Published: November 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

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

Pathogenic homozygous PLCZ1 mutation reduces sperm protein levels with a simulated reduction of PIP2 binding: a case report.

Pathogenic homozygous PLCZ1 mutation reduces sperm protein levels with a simulated reduction of PIP2 binding: a case report.

Journal: Reproduction & fertility

Published: June 17, 2025

Detection of Chromosomal Aneuploidy Using Exome Sequencing.

Detection of Chromosomal Aneuploidy Using Exome Sequencing.

Journal: Genes

Published: June 11, 2025

Showing 1-12 of 87

Last Updated: 09/26/2026