| Histone lysine methylases and demethylases in the landscape of human developmental disorders V Faundes, WG Newman, L Bernardini, N Canham, J Clayton-Smith, ... The American Journal of Human Genetics 102 (1), 175-187, 2018 | 227* | 2018 |
| Ibero–American consensus on low-and no-calorie sweeteners: Safety, nutritional aspects and benefits in food and beverages L Serra-Majem, A Raposo, J Aranceta-Bartrina, G Varela-Moreiras, ... Nutrients 10 (7), 818, 2018 | 102 | 2018 |
| Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy AH O’Donnell-Luria, LS Pais, V Faundes, JC Wood, A Sveden, V Luria, ... The American Journal of Human Genetics 104 (6), 1210-1222, 2019 | 74 | 2019 |
| A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome S Cuvertino, V Hartill, A Colyer, T Garner, N Nair, L Al-Gazali, N Canham, ... Genetics in Medicine 22 (5), 867-877, 2020 | 55 | 2020 |
| Raine syndrome: an overview V Faundes, S Castillo-Taucher, P Gonzalez-Hormazabal, K Chandler, ... European journal of medical genetics 57 (9), 536-542, 2014 | 50 | 2014 |
| Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine V Faundes, MD Jennings, S Crilly, S Legraie, SE Withers, S Cuvertino, ... Nature communications 12 (1), 833, 2021 | 49 | 2021 |
| Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2 V Faundes, S Goh, R Akilapa, H Bezuidenhout, HT Bjornsson, L Bradley, ... Genetics in medicine 23 (7), 1202-1210, 2021 | 42 | 2021 |
| A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population V Faundes, G Malone, WG Newman, S Banka Journal of human genetics 64 (2), 161-170, 2019 | 39 | 2019 |
| Genética de la sordera congénita V Faundes, RA Pardo, SC Taucher Medicina clínica 139 (10), 446-451, 2012 | 35* | 2012 |
| Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome EK Baker, M Arpone, SA Vera, L Bretherton, A Ure, CM Kraan, M Bui, ... Journal of neurodevelopmental disorders 11, 1-15, 2019 | 32 | 2019 |
| Identification of males with cryptic fragile X alleles by methylation-specific quantitative melt analysis SM Aliaga, HR Slater, D Francis, D Du Sart, X Li, DJ Amor, AM Alliende, ... Clinical Chemistry 62 (2), 343-352, 2016 | 28 | 2016 |
| Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features EK Baker, M Arpone, SM Aliaga, L Bretherton, CM Kraan, M Bui, ... Molecular autism 10, 1-13, 2019 | 27 | 2019 |
| Consenso de la Rama de Genética de la Sociedad Chilena de Pediatría sobre las anomalías congénitas de mal pronóstico vital (ACMPV) RAP Vargas, M Aracena, T Aravena, C Cares, F Cortés, V Faundes, ... Revista chilena de pediatría 87 (5), 422-431, 2016 | 25* | 2016 |
| Clinical, molecular, and pharmacological aspects of FMR1-related disorders A Pugin, V Faundes, L Santa María, B Curotto, S Aliaga, I Salas, P Soto, ... Neurología (English Edition) 32 (4), 241-252, 2017 | 20* | 2017 |
| Evaluación de la composición corporal en pacientes con insuficiencia renal crónica M Cano, J Camousseigt, F Carrasco, P Rojas, J Inostroza, A Pardo, ... Nutrición hospitalaria 25 (4), 682-687, 2010 | 19* | 2010 |
| Comparison of two subtelomeric assays for the screening of chromosomal rearrangements: analysis of 383 patients, literature review and further recommendations L Santa María, V Faundes, B Curotto, P Morales, K Morales, S Aliaga, ... Journal of applied genetics 57, 63-69, 2016 | 17 | 2016 |
| Appendiceal endometriosis differentially diagnosed from acute appendicitis G Astroza, V Faundes, R Nanjarí, M Fleiderman, C Rodríguez Chinese medical journal 122 (12), 1610-1611, 2009 | 17 | 2009 |
| FMR1 mRNA from full mutation alleles is associated with ABC-CFX scores in males with fragile X syndrome EK Baker, M Arpone, C Kraan, M Bui, C Rogers, M Field, L Bretherton, ... Scientific Reports 10 (1), 11701, 2020 | 13 | 2020 |
| Maple syrup urine disease: Characteristics of diagnosis and treatment in 45 patients in Chile MF Medina, G Castro, F Falcon, JF Cabello, V Faundes, D Ruffato, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2021 | 8 | 2021 |
| Consenso de la Rama de Genética de la Sociedad Chilena de Pediatría sobre priorización de personas con Síndrome de Down y otras condiciones poco frecuentes en la Campaña de … V Faundes, R Pardo, F Cammarata-Scalisi, P Alarcon, G Lay-Son, ... Andes pediatrica 92 (2), 309-315, 2021 | 8* | 2021 |
