Saoud T. Swafiri

Madrid, MD 28040, Spain

Last Updated: 09/26/2026

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Found 15 publications

Germline pathogenic variants associated with prostate cancer susceptibility in a Spanish cohort: emergence of new key players.

Germline pathogenic variants associated with prostate cancer susceptibility in a Spanish cohort: emergence of new key players.

Journal: Scientific reports

Published: March 04, 2026

Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis.

Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis.

Journal: medRxiv : the preprint server for health sciences

Published: February 06, 2026

Prenatal Deep Phenotyping in Genetic Syndromes Diagnosed in the First Trimester of Pregnancy.

Prenatal Deep Phenotyping in Genetic Syndromes Diagnosed in the First Trimester of Pregnancy.

Journal: Prenatal diagnosis

Published: December 04, 2025

Identification of new families and variants in autosomal dominant macular dystrophy associated with THRB.

Identification of new families and variants in autosomal dominant macular dystrophy associated with THRB.

Journal: Scientific reports

Published: November 08, 2024

A unique missense mutation in the RING domain impairs MID1 E3 ubiquitin ligase activity and localisation and is associated with uncommon Opitz Syndrome-like signs.

A unique missense mutation in the RING domain impairs MID1 E3 ubiquitin ligase activity and localisation and is associated with uncommon Opitz Syndrome-like signs.

Journal: Biochimica et biophysica acta. Molecular basis of disease

Published: February 17, 2024

PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.

PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.

Journal: International journal of molecular sciences

Published: February 01, 2024

Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review.

Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review.

Journal: Genes

Published: June 22, 2023

Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.

Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.

Journal: American journal of ophthalmology

Published: January 27, 2023

Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.

Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.

Journal: Journal of medical genetics

Published: April 12, 2022

Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.

Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.

Journal: NPJ genomic medicine

Published: March 28, 2022

Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.

Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.

Journal: Investigative ophthalmology & visual science

Published: February 04, 2022

RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patients.

RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patients.

Journal: Experimental eye research

Published: April 26, 2021

Showing 1-12 of 15

Last Updated: 09/26/2026