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Year Number of Results
2008 1
2010 1
2011 1
2012 1
2014 2
2015 3
2016 5
2017 2
2018 3
2019 4
2020 3
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Page 1
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.
Faundes V, Newman WG, Bernardini L, Canham N, Clayton-Smith J, Dallapiccola B, Davies SJ, Demos MK, Goldman A, Gill H, Horton R, Kerr B, Kumar D, Lehman A, McKee S, Morton J, Parker MJ, Rankin J, Robertson L, Temple IK; Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Study; Deciphering Developmental Disorders (DDD) Study, Banka S. Faundes V, et al. Am J Hum Genet. 2018 Jan 4;102(1):175-187. doi: 10.1016/j.ajhg.2017.11.013. Epub 2017 Dec 21. Am J Hum Genet. 2018. PMID: 29276005 Free PMC article.
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A; Deciphering Developmental Disorders (DDD) Study, Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH. O'Donnell-Luria AH, et al. Among authors: faundes v. Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9. Am J Hum Genet. 2019. PMID: 31079897 Free PMC article.
Ibero⁻American Consensus on Low- and No-Calorie Sweeteners: Safety, Nutritional Aspects and Benefits in Food and Beverages.
Serra-Majem L, Raposo A, Aranceta-Bartrina J, Varela-Moreiras G, Logue C, Laviada H, Socolovsky S, Pérez-Rodrigo C, Aldrete-Velasco JA, Meneses Sierra E, López-García R, Ortiz-Andrellucchi A, Gómez-Candela C, Abreu R, Alexanderson E, Álvarez-Álvarez RJ, Álvarez Falcón AL, Anadón A, Bellisle F, Beristain-Navarrete IA, Blasco Redondo R, Bochicchio T, Camolas J, Cardini FG, Carocho M, Costa MDC, Drewnowski A, Durán S, Faundes V, Fernández-Condori R, García-Luna PP, Garnica JC, González-Gross M, La Vecchia C, Leis R, López-Sobaler AM, Madero MA, Marcos A, Mariscal Ramírez LA, Martyn DM, Mistura L, Moreno Rojas R, Moreno Villares JM, Niño-Cruz JA, Oliveira MBPP, Palacios Gil-Antuñano N, Pérez-Castells L, Ribas-Barba L, Rincón Pedrero R, Riobó P, Rivera Medina J, Tinoco de Faria C, Valdés-Ramos R, Vasco E, Wac SN, Wakida G, Wanden-Berghe C, Xóchihua Díaz L, Zúñiga-Guajardo S, Pyrogianni V, Cunha Velho de Sousa S. Serra-Majem L, et al. Among authors: faundes v. Nutrients. 2018 Jun 25;10(7):818. doi: 10.3390/nu10070818. Nutrients. 2018. PMID: 29941818 Free PMC article. Review.
Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome.
Baker EK, Arpone M, Vera SA, Bretherton L, Ure A, Kraan CM, Bui M, Ling L, Francis D, Hunter MF, Elliott J, Rogers C, Field MJ, Cohen J, Maria LS, Faundes V, Curotto B, Morales P, Trigo C, Salas I, Alliende AM, Amor DJ, Godler DE. Baker EK, et al. Among authors: faundes v. J Neurodev Disord. 2019 Dec 26;11(1):41. doi: 10.1186/s11689-019-9288-7. J Neurodev Disord. 2019. PMID: 31878865 Free PMC article. Clinical Trial.
[Congenital anomalies of poor prognosis. Genetics Consensus Committee].
Pardo Vargas RA, Aracena M, Aravena T, Cares C, Cortés F, Faundes V, Mellado C, Passalacqua C, Sanz P, Castillo Taucher S. Pardo Vargas RA, et al. Among authors: faundes v. Rev Chil Pediatr. 2016 Sep-Oct;87(5):422-431. doi: 10.1016/j.rchipe.2016.04.005. Epub 2016 May 24. Rev Chil Pediatr. 2016. PMID: 27234469 Free article. Spanish.
Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features.
Baker EK, Arpone M, Aliaga SM, Bretherton L, Kraan CM, Bui M, Slater HR, Ling L, Francis D, Hunter MF, Elliott J, Rogers C, Field M, Cohen J, Cornish K, Santa Maria L, Faundes V, Curotto B, Morales P, Trigo C, Salas I, Alliende AM, Amor DJ, Godler DE. Baker EK, et al. Among authors: faundes v. Mol Autism. 2019 May 3;10:21. doi: 10.1186/s13229-019-0271-7. eCollection 2019. Mol Autism. 2019. PMID: 31073396 Free PMC article.
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.
Cuvertino S, Hartill V, Colyer A, Garner T, Nair N, Al-Gazali L, Canham N, Faundes V, Flinter F, Hertecant J, Holder-Espinasse M, Jackson B, Lynch SA, Nadat F, Narasimhan VM, Peckham M, Sellers R, Seri M, Montanari F, Southgate L, Squeo GM, Trembath R, van Heel D, Venuto S, Weisberg D, Stals K, Ellard S; Genomics England Research Consortium, Barton A, Kimber SJ, Sheridan E, Merla G, Stevens A, Johnson CA, Banka S. Cuvertino S, et al. Among authors: faundes v. Genet Med. 2020 May;22(5):867-877. doi: 10.1038/s41436-019-0743-3. Epub 2020 Jan 17. Genet Med. 2020. PMID: 31949313 Free PMC article.
Raine syndrome: an overview.
Faundes V, Castillo-Taucher S, Gonzalez-Hormazabal P, Chandler K, Crosby A, Chioza B. Faundes V, et al. Eur J Med Genet. 2014 Sep;57(9):536-42. doi: 10.1016/j.ejmg.2014.07.001. Epub 2014 Jul 12. Eur J Med Genet. 2014. PMID: 25019372 Review.
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