Concepedia
Statistics
Publications
17
Citations
822
H-Index
14
Active since
2010
Affiliations
University of Chile(Current)
University of Manchester
Manchester University NHS Foundation Trust
Murdoch Children's Research Institute
The University of Melbourne
Víctor Faúndes is an author at University of Chile specializing in medicine, genetics, and pathology.
Top concepts
MedicineGeneticsPathologyDevelopmental BiologySurgeryChromatinDiagnosisGynecologyEpigeneticsEpigenomics
Publications per year
2010–2024
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders
Víctor Faúndes, William G. Newman, Laura Bernardini et al. · The American Journal of Human Genetics · 2017 · 268 citations · Full text
Histone Modifications, Chromatin, Developmental Biology +11
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
Anne O’Donnell‐Luria, Lynn Pais, Víctor Faúndes et al. · The American Journal of Human Genetics · 2019 · 97 citations · Full text
Neurodevelopmental Disorders, Developmental Biology, Heterozygous Variants +8
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 · 64 citations · Full text
Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine
Víctor Faúndes, Martin D. Jennings, Siobhan Crilly et al. · Nature Communications · 2021 · 63 citations · Full text
Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2
Víctor Faúndes, Stephanie Goh, Rhoda Akilapa et al. · Genetics in Medicine · 2021 · 57 citations · Full text
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