Víctor Faundes

Víctor Faundes

Universidad de Chile - Santiago / Chile
Medical and Health Sciences / Nutrition and Dietetics
AD Scientific Index ID: 844179
University of Chile
person_outline Víctor Faundes's MOST POPULAR ARTICLES
1-) Histone lysine methylases and demethylases in the landscape of human developmental disordersV Faundes, WG Newman, L Bernardini, N Canham, J Clayton-Smith, ...The American Journal of Human Genetics 102 (1), 175-187, 20181522018
2-) Ibero–American consensus on low-and no-calorie sweeteners: safety, nutritional aspects and benefits in food and beveragesL Serra-Majem, A Raposo, J Aranceta-Bartrina, G Varela-Moreiras, ...Nutrients 10 (7), 818, 2018822018
3-) Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsyAH O’Donnell-Luria, LS Pais, V Faundes, JC Wood, A Sveden, V Luria, ...The American Journal of Human Genetics 104 (6), 1210-1222, 2019402019
4-) A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndromeS Cuvertino, V Hartill, A Colyer, T Garner, N Nair, L Al-Gazali, N Canham, ...Genetics in Medicine 22 (5), 867-877, 2020572020
5-) Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidineV Faundes, MD Jennings, S Crilly, S Legraie, SE Withers, S Cuvertino, ...Nature communications 12 (1), 833, 2021532021