Concepedia
Statistics
Publications
18
Citations
889
H-Index
14
Active since
2010
Affiliations
University of Chile(Current)
Victorian Clinical Genetics Services
Murdoch Children's Research Institute
The University of Melbourne
University of Manchester
Víctor Faùndes is an author at University of Chile specializing in life sciences, genetics, and molecular genetics.
Publications per year
2010–2024
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders
Víctor Faùndes, William G. Newman, Laura Bernardini et al. · The American Journal of Human Genetics · 2017 · 278 citations · Full text
Life Sciences, Genetics, Molecular Biology +14
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
Anne O’Donnell‐Luria, Lynn Pais, Víctor Faùndes et al. · The American Journal of Human Genetics · 2019 · 99 citations · Full text
Life Sciences, Genetics, Molecular Genetics +16
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome
Sara Cuvertino, Verity Hartill, Alice Colyer et al. · Genetics in Medicine · 2020 · 70 citations · Full text
Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2
Víctor Faùndes, Stephanie Goh, Rhoda Akilapa et al. · Genetics in Medicine · 2021 · 70 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine
Víctor Faùndes, Martin D. Jennings, Siobhan Crilly et al. · Nature Communications · 2021 · 65 citations · Full text
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