Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment C Tayama, V Romanelli, A Martin-Trujillo, I Iglesias-Platas, K Okamura, ... Genome research 24 (4), 554-569, 2014 | 282 | 2014 |
Absence of Maternal Methylation in Biparental Hydatidiform Moles from Women with NLRP7 Maternal-Effect Mutations Reveals Widespread Placenta-Specific … M Sanchez-Delgado, A Martin-Trujillo, C Tayama, E Vidal, M Esteller, ... PLoS genetics 11 (11), e1005644, 2015 | 102 | 2015 |
Human oocyte-derived methylation differences persist in the placenta revealing widespread transient imprinting M Sanchez-Delgado, F Court, E Vidal, J Medrano, ... PLoS genetics 12 (11), e1006427, 2016 | 101 | 2016 |
Identification of rare de novo epigenetic variations in congenital disorders M Barbosa, RS Joshi, P Garg, A Martin-Trujillo, N Patel, B Jadhav, ... Nature communications 9 (1), 2064, 2018 | 91 | 2018 |
Altered expression of the imprinted transcription factor PLAGL1 deregulates a network of genes in the human IUGR placenta I Iglesias-Platas, A Martin-Trujillo, P Petazzi, A Guillaumet-Adkins, ... Human molecular genetics 23 (23), 6275-6285, 2014 | 89 | 2014 |
Genome‐wide allelic methylation analysis reveals disease‐specific susceptibility to multiple methylation defects in imprinting syndromes F Court, A Martin‐Trujillo, V Romanelli, I Garin, I Iglesias‐Platas, ... Human mutation 34 (4), 595-602, 2013 | 81 | 2013 |
Methylation screening of reciprocal genome-wide UPDs identifies novel human-specific imprinted genes K Nakabayashi, AM Trujillo, C Tayama, C Camprubi, W Yoshida, ... Human molecular genetics 20 (16), 3188-3197, 2011 | 76 | 2011 |
Stability of genomic imprinting and gestational-age dynamic methylation in complicated pregnancies conceived following assisted reproductive technologies C Camprubí, I Iglesias-Platas, A Martin-Trujillo, C Salvador-Alarcon, ... Biology of reproduction 89 (3), 50, 1-9, 2013 | 53 | 2013 |
A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions P Garg, B Jadhav, OL Rodriguez, N Patel, A Martin-Trujillo, M Jain, ... The American Journal of Human Genetics 107 (4), 654-669, 2020 | 50 | 2020 |
Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects A Rochtus, A Martin-Trujillo, B Izzi, F Elli, I Garin, A Linglart, G Mantovani, ... Clinical epigenetics 8 (1), 10, 2016 | 47 | 2016 |
Clinical and molecular analyses of Beckwith–Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques J Tenorio, V Romanelli, A Martin‐Trujillo, GM Fernández, M Segovia, ... American journal of medical genetics Part A 170 (10), 2740-2749, 2016 | 47 | 2016 |
The PEG13-DMR and brain-specific enhancers dictate imprinted expression within the 8q24 intellectual disability risk locus C Camprubi, CV Garcia, A Guillaumet-Adkins, A Sparago, D Seruggia, ... Epigenetics & chromatin 7 (1), 5, 2014 | 43 | 2014 |
A New Overgrowth Syndrome is due to Mutations in RNF125 J Tenorio, A Mansilla, M Valencia, V Martínez‐Glez, V Romanelli, P Arias, ... Human mutation 35 (12), 1436-1441, 2014 | 39 | 2014 |
Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism V Romanelli, J Nevado, M Fraga, AM Trujillo, MÁ Mori, L Fernández, ... Journal of medical genetics 48 (3), 212-216, 2011 | 38 | 2011 |
Copy number rather than epigenetic alterations are the major dictator of imprinted methylation in tumors A Martin-Trujillo, E Vidal, A Monteagudo-Sánchez, M Sanchez-Delgado, ... Nature communications 8 (1), 1-12, 2017 | 32 | 2017 |
Imprinting at the PLAGL1 domain is contained within a 70-kb CTCF/cohesin-mediated non-allelic chromatin loop I Iglesias-Platas, C Camprubi, A Sparago, A Guillaumet-Adkins, ... Nucleic acids research 41 (4), 2171-2179, 2013 | 32 | 2013 |
Characterization of Novel Paternal ncRNAs at the Plagl1 Locus, Including Hymai, Predicted to Interact with Regulators of Active Chromatin I Iglesias-Platas, A Martin-Trujillo, D Cirillo, F Court, A Guillaumet-Adkins, ... PLoS One 7 (6), e38907, 2012 | 32 | 2012 |
Genotype of an individual single nucleotide polymorphism regulates DNA methylation at the TRPC3 alternative promoter A Martin-Trujillo, I Iglesias-Platas, E Coto, M Corral-Juan, H San Nicolás, ... Epigenetics 6 (10), 1236-1241, 2011 | 29 | 2011 |
Pervasive cis effects of variation in copy number of large tandem repeats on local DNA methylation and gene expression P Garg, A Martin-Trujillo, OL Rodriguez, SJ Gies, E Hadelia, B Jadhav, ... The American Journal of Human Genetics 108 (5), 809-824, 2021 | 28 | 2021 |
Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles A Martin-Trujillo, N Patel, F Richter, B Jadhav, P Garg, SU Morton, ... PLoS genetics 16 (11), e1009189, 2020 | 28 | 2020 |