Saoud Tahsin Swafiri

Statistics

Publications

Citations

765

H-Index

Active since

2012

Affiliations

Hospital Universitario Fundación Jiménez Díaz(Current)

Centre for Biomedical Network Research on Rare Diseases

Instituto de Salud Carlos III

Universidad Autónoma de Madrid

Children's Hospital of Philadelphia

Saoud Tahsin Swafiri is an author at Hospital Universitario Fundación Jiménez Díaz specializing in medical genetics, genetics, and molecular genetics.

ORCID

Publications per year

2012–2023

Publications

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

Irene Perea‐Romero, Gema Gordo, Ionut-Florin Iancu et al. · Scientific Reports · 2021 · 160 citations · Full text

Life Sciences, Genetics, Ophthalmology +16

Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes

Ana Arteche‐López, Raquel Escutia Romero, Rosa Riveiro-Álvarez et al. · Scientific Reports · 2021 · 69 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Genomic Landscape of Sporadic Retinitis Pigmentosa

Inmaculada Martín-Mérida, Almudena Ávila‐Fernández, Marta Del Pozo‐Valero et al. · Ophthalmology · 2019 · 67 citations

Medicine, Genetics, Molecular Genetics +13

Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders

Francisco Martínez‐Granero, Fiona Blanco‐Kelly, C. Sánchez-Jimeno et al. · npj Genomic Medicine · 2021 · 58 citations · Full text

Medicine, Molecular Genetics, Pediatrics +17

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

Nicola Ragge, Bertrand Isidor, Pierre Bitoun et al. · Human Genetics · 2018 · 53 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

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