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Human Variome Project country nodes: documenting genetic information within a country.
Patrinos GP, Smith TD, Howard H, Al-Mulla F, Chouchane L, Hadjisavvas A, Hamed SA, Li XT, Marafie M, Ramesar RS, Ramos FJ, de Ravel T, El-Ruby MO, Shrestha TR, Sobrido MJ, Tadmouri G, Witsch-Baumgartner M, Zilfalil BA, Auerbach AD, Carpenter K, Cutting GR, Dung VC, Grody W, Hasler J, Jorde L, Kaput J, Macek M, Matsubara Y, Padilla C, Robinson H, Rojas-Martinez A, Taylor GR, Vihinen M, Weber T, Burn J, Qi M, Cotton RG, Rimoin D; International Confederation of Countries Advisory Council. Patrinos GP, et al. Among authors: ramos fj. Hum Mutat. 2012 Nov;33(11):1513-9. doi: 10.1002/humu.22147. Epub 2012 Jul 18. Hum Mutat. 2012. PMID: 22753370
A crowdsourcing database for the copy-number variation of the Spanish population.
López-López D, Roldán G, Fernández-Rueda JL, Bostelmann G, Carmona R, Aquino V, Perez-Florido J, Ortuño F, Pita G, Núñez-Torres R, González-Neira A; CSVS Crowdsourcing Group; Peña-Chilet M, Dopazo J. López-López D, et al. Hum Genomics. 2023 Mar 9;17(1):20. doi: 10.1186/s40246-023-00466-8. Hum Genomics. 2023. PMID: 36894999 Free PMC article.
An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype.
Lucia-Campos C, Parenti I, Latorre-Pellicer A, Gil-Salvador M, Bestetti I, Finelli P, Larizza L, Arnedo M, Ayerza-Casas A, Del Rincón J, Trujillano L, Morte B, Pérez-Jurado LA, Lapunzina P, Leitão E, Beygo J, Lich C, Kilpert F, Kaya S, Depienne C, Kaiser FJ, Ramos FJ, Puisac B, Pié J. Lucia-Campos C, et al. Among authors: ramos fj. Front Genet. 2024 Nov 1;15:1472543. doi: 10.3389/fgene.2024.1472543. eCollection 2024. Front Genet. 2024. PMID: 39553472 Free PMC article.
Lamotrigine for cognitive deficits associated with neurofibromatosis type 1: A phase II randomized placebo-controlled trial.
Ottenhoff MJ, Mous SE, Castricum J, Rietman AB, Oostenbrink R, van der Vaart T, Tulen JHM, Parra A, Ramos FJ, Legius E, Moll HA, Elgersma Y, de Wit MY; ENCORE Expertise Center for NF1. Ottenhoff MJ, et al. Among authors: ramos fj. Dev Med Child Neurol. 2024 Sep 28. doi: 10.1111/dmcn.16094. Online ahead of print. Dev Med Child Neurol. 2024. PMID: 39340758
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Jurgens JA, Barry BJ, Chan WM, MacKinnon S, Whitman MC, Matos Ruiz PM, Pratt BM, England EM, Pais L, Lemire G, Groopman E, Glaze C, Russell KA, Singer-Berk M, Di Gioia SA, Lee AS, Andrews C, Shaaban S, Wirth MM, Bekele S, Toffoloni M, Bradford VR, Foster EE, Berube L, Rivera-Quiles C, Mensching FM, Sanchis-Juan A, Fu JM, Wong I, Zhao X, Wilson MW, Weisburd B, Lek M; Ocular CCDD Phenotyping Consortium; Brand H, Talkowski ME, MacArthur DG, O'Donnell-Luria A, Robson CD, Hunter DG, Engle EC. Jurgens JA, et al. Genet Med. 2024 Jul 17:101216. doi: 10.1016/j.gim.2024.101216. Online ahead of print. Genet Med. 2024. PMID: 39033378 Free article.
Cornelia de Lange Spectrum.
Ascaso Á, Arnedo M, Puisac B, Latorre-Pellicer A, Del Rincón J, Bueno-Lozano G, Pié J, Ramos FJ. Ascaso Á, et al. Among authors: ramos fj. An Pediatr (Engl Ed). 2024 May;100(5):352-362. doi: 10.1016/j.anpede.2024.04.012. Epub 2024 May 11. An Pediatr (Engl Ed). 2024. PMID: 38735830 Free article.
170 results