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Year Number of Results
1974 1
1977 2
1989 1
1994 1
2001 1
2009 1
2010 1
2011 2
2012 1
2013 3
2014 5
2015 2
2016 4
2017 3
2018 1
2020 2
2021 1
2022 3
2023 3
2024 1

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37 results

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Page 1
A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 as a significant cause of intellectual disability.
Jadhav B, Garg P, van Vugt JJFA, Ibanez K, Gagliardi D, Lee W, Shadrina M, Mokveld T, Dolzhenko E, Martin-Trujillo A, Gies SL, Rocca C, Barbosa M, Jain M, Lahiri N, Lachlan K, Houlden H, Paten B; Genomics England Research Consortium; Project MinE ALS Sequencing Consortium; Veldink J, Tucci A, Sharp AJ. Jadhav B, et al. Among authors: martin trujillo a. medRxiv [Preprint]. 2023 Dec 12:2023.05.03.23289461. doi: 10.1101/2023.05.03.23289461. medRxiv. 2023. PMID: 37205357 Free PMC article. Preprint.
POPULATION FREQUENCY OF REPEAT EXPANSIONS INDICATES INCREASED DISEASE PREVALENCE ESTIMATES ACROSS DIFFERENT POPULATIONS.
Ibañez K, Jadhav B, Facchini S, Garg P, Zanovello M, Martin-Trujillo A, Gies SJ, Deforie VG, Gagliardi D, Hensman D, Moutsianas L, Shoai M; Genomics England Research Consortium; EUROSCA network; Caulfield MJ, Cortese A, Escott-Price V, Hardy J, Houlden H, Sharp AJ, Tucci A. Ibañez K, et al. Among authors: martin trujillo a. medRxiv [Preprint]. 2023 Jul 6:2023.07.03.23292162. doi: 10.1101/2023.07.03.23292162. medRxiv. 2023. PMID: 37461547 Free PMC article. Preprint.
Identification of rare de novo epigenetic variations in congenital disorders.
Barbosa M, Joshi RS, Garg P, Martin-Trujillo A, Patel N, Jadhav B, Watson CT, Gibson W, Chetnik K, Tessereau C, Mei H, De Rubeis S, Reichert J, Lopes F, Vissers LELM, Kleefstra T, Grice DE, Edelmann L, Soares G, Maciel P, Brunner HG, Buxbaum JD, Gelb BD, Sharp AJ. Barbosa M, et al. Among authors: martin trujillo a. Nat Commun. 2018 May 25;9(1):2064. doi: 10.1038/s41467-018-04540-x. Nat Commun. 2018. PMID: 29802345 Free PMC article.
A randomized, double-blind phase I clinical trial of two recombinant dimeric RBD COVID-19 vaccine candidates: Safety, reactogenicity and immunogenicity.
Pérez-Rodríguez S, de la Caridad Rodríguez-González M, Ochoa-Azze R, Climent-Ruiz Y, Alberto González-Delgado C, Paredes-Moreno B, Valenzuela-Silva C, Rodríguez-Noda L, Perez-Nicado R, González-Mugica R, Martínez-Pérez M, Sánchez-Ramírez B, Hernández-García T, Díaz-Machado A, Tamayo-Rodríguez M, Martín-Trujillo A, Rubino-Moreno J, Suárez-Batista A, Dubed-Echevarría M, Teresa Pérez-Guevara M, Amoroto-Roig M, Chappi-Estévez Y, Bergado-Báez G, Pi-Estopiñán F, Chen GW, Valdés-Balbín Y, García-Rivera D, Verez-Bencomo V. Pérez-Rodríguez S, et al. Among authors: martin trujillo a. Vaccine. 2022 Mar 18;40(13):2068-2075. doi: 10.1016/j.vaccine.2022.02.029. Epub 2022 Feb 8. Vaccine. 2022. PMID: 35164986 Free PMC article. Clinical Trial.
A new overgrowth syndrome is due to mutations in RNF125.
Tenorio J, Mansilla A, Valencia M, Martínez-Glez V, Romanelli V, Arias P, Castrejón N, Poletta F, Guillén-Navarro E, Gordo G, Mansilla E, García-Santiago F, González-Casado I, Vallespín E, Palomares M, Mori MA, Santos-Simarro F, García-Miñaur S, Fernández L, Mena R, Benito-Sanz S, del Pozo Á, Silla JC, Ibañez K, López-Granados E, Martín-Trujillo A, Montaner D; SOGRI Consortium; Heath KE, Campos-Barros Á, Dopazo J, Nevado J, Monk D, Ruiz-Pérez VL, Lapunzina P. Tenorio J, et al. Among authors: martin trujillo a. Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689. Hum Mutat. 2014. PMID: 25196541
Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles.
Martin-Trujillo A, Patel N, Richter F, Jadhav B, Garg P, Morton SU, McKean DM, DePalma SR, Goldmuntz E, Gruber D, Kim R, Newburger JW, Porter GA Jr, Giardini A, Bernstein D, Tristani-Firouzi M, Seidman JG, Seidman CE, Chung WK, Gelb BD, Sharp AJ. Martin-Trujillo A, et al. PLoS Genet. 2020 Nov 20;16(11):e1009189. doi: 10.1371/journal.pgen.1009189. eCollection 2020 Nov. PLoS Genet. 2020. PMID: 33216750 Free PMC article.
Human Amniocytes Are Receptive to Chemically Induced Reprogramming to Pluripotency.
Hawkins KE, Moschidou D, Faccenda D, Wruck W, Martin-Trujillo A, Hau KL, Ranzoni AM, Sanchez-Freire V, Tommasini F, Eaton S, De Coppi P, Monk D, Campanella M, Thrasher AJ, Adjaye J, Guillot PV. Hawkins KE, et al. Among authors: martin trujillo a. Mol Ther. 2017 Feb 1;25(2):427-442. doi: 10.1016/j.ymthe.2016.11.014. Mol Ther. 2017. PMID: 28153093 Free PMC article.
37 results