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Víctor Faúndes | Researchclopedia

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Víctor Faúndes

Universidad de Santiago de Chile ORCID

55

Works

1,060

Citations

15

h-index

20

i10-index

Research Topics

Genetics and Neurodevelopmental Disorders Genomics and Rare Diseases Genomic variations and chromosomal abnormalities

Affiliations

Universidad de Santiago de Chile2024–2025

Universidad del Desarrollo2023–2024

Pontificia Universidad Católica de Chile2023–2023

University of Southern Denmark2022–2022

Baylor College of Medicine2023–2023

Top Works

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

Víctor Faúndes,William G. Newman,et al.

2017272 citations

Autism Spectrum Disorder Research

Congenital heart defects research

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Anne O’Donnell‐Luria,Lynn Pais,et al.

201998 citations

Ibero–American Consensus on Low- and No-Calorie Sweeteners: Safety, Nutritional Aspects and Benefits in Food and Beverages

Lluís Serra‐Majem,António Raposo,et al.

201871 citations

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome

Sara Cuvertino,Verity Hartill,et al.

202066 citations

Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

Víctor Faúndes,Stephanie Goh,et al.

202166 citations

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

Víctor Faúndes,Martin D. Jennings,et al.

202163 citations

Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome

Emma K. Baker,Marta Arpone,et al.

201953 citations

Raine syndrome: An overview

Víctor Faúndes,Silvia Castillo‐Taucher,et al.

201453 citations

A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population

Víctor Faúndes,Geraldine Malone,et al.

201847 citations