Items where Author is "Monk, David"

Frew, Edward, Sainty, Rebecca, Chappell-Maor, Louise, Bone, Caitlin, Daskeviciute, Dagne, Russell, Sarah, Buhigas, Claudia, Iglesias-Platas, Isabel, Lartey, Jon and Monk, David (2024) Differential expression of PPP1R12A transcripts, including those harbouring alternatively spliced micro-exons, in placentae from complicated pregnancies. Placenta, 151. pp. 1-9. ISSN 0143-4004

Hernandez Mora, Jose Ramon, Buhigas, Claudia, Clark, Stephen, Del Gallego Bonilla, Raquel, Daskeviciute, Dagne, Monteagudo-Sánchez, Ana, Poo-Llanillo, Maria Eugenia, Medrano, Jose Vicente, Simón, Carlos, Meseguer, Marcos, Kelsey, Gavin and Monk, David (2023) Single-cell multi-omic analysis profiles defective genome activation and epigenetic reprogramming associated with human pre-implantation embryo arrest. Cell Reports, 42 (2). ISSN 2211-1247

Pignata, Laura, Cecere, Francesco, Verma, Ankit, Hay Mele, Bruno, Monticelli, Maria, Acurzio, Basilia, Giaccari, Carlo, Sparago, Angela, Hernandez Mora, Jose Ramon, Monteagudo-Sánchez, Ana, Esteller, Manel, Pereda, Arrate, Tenorio-Castano, Jair, Palumbo, Orazio, Carella, Massimo, Prontera, Paolo, Piscopo, Carmelo, Accadia, Maria, Lapunzina, Pablo, Cubellis, Maria Vittoria, de Nanclares, Guiomar Perez, Monk, David, Riccio, Andrea and Cerrato, Flavia (2022) Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith–Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances. Clinical Epigenetics, 14 (1). ISSN 1868-7075

Eggermann, Thomas, Yapici, Elzem, Bliek, Jet, Pereda, Arrate, Begemann, Matthias, Russo, Silvia, Tannorella, Pierpaola, Calzari, Luciano, de Nanclares, Guiomar Perez, Lombardi, Paola, Temple, I. Karen, Mackay, Deborah, Riccio, Andrea, Kagami, Masayo, Ogata, Tsutomu, Lapunzina, Pablo, Monk, David, Maher, Eamonn R. and Tümer, Zeynep (2022) Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences. Clinical Epigenetics, 14. ISSN 1868-7075

Sabria-Back, Joan, Monteagudo-Sánchez, Ana, Sánchez-Delgado, Marta, Ferguson-Smith, Anne C., Gómez, Olga, Pertierra Cartada, Africa, Tenorio, Jair, Nevado, Julián, Lapunzina, Pablo, Pereda Aguirre, Arrate, Giménez Sevilla, Carles, Toro Toro, Estefanía, Perez de Nanclares, Guiomar and Monk, David (2022) Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome. Journal of Medical Genetics, 59 (3). pp. 253-261. ISSN 0022-2593

Silver, Matt J., Saffari, Ayden, Kessler, Noah J., Chandak, Gririraj R., Fall, Caroline H. D., Issarapu, Prachand, Dedaniya, Akshay, Betts, Modupeh, Moore, Sophie E., Routledge, Michael N., Herceg, Zdenko, Cuenin, Cyrille, Derakhshan, Maria, James, Philip T., Monk, David and Prentice, Andrew M. (2022) Environmentally sensitive hotspots in the methylome of the early human embryo. eLife, 11. ISSN 2050-084X

Coll, C. Molinet, Bach, J. Sabrià, Renau, M. Izquierdo, Alarcón Allen, A., Monk, David, Gómez del Rincón, O., Recasens, M. Milà and Martínez Crespo, J. M. (2021) Prenatal diagnosis of Kagami-Ogata Syndrome. Journal of Clinical Ultrasound, 49 (5). pp. 498-501. ISSN 0091-2751

Choux, Cecile, Petazzi, Paolo, Sanchez-Delago, Marta, Hernandez Mora, Jose R., Monteagudo, Ana, Sagot, Paul, Monk, David and Fauque, Patricia (2020) The hypomethylation of imprinted genes in IVF/ICSI placenta samples is associated with concomitant changes in histone modifications. Epigenetics, 15 (12). pp. 1386-1395. ISSN 1559-2294

Monteagudo Sanchez, Ana, Hernandez Mora, Jose Ramon, Simon, Carlos, Burton, Adam, Tenorio, Jair, Lapunzina, Pablo, Clark, Stephen, Esteller, Manel, Kelsey, Gavin, López-Siguer, Juan Pedro, Perez de Nanclares, Guiomar, Torres-Padilla, Maria-Elena and Monk, David (2020) The role of ZFP57 and additional KRAB-Zinc Finger proteins in the maintenance of human imprinted methylation and multi-locus imprinting disturbances. Nucleic Acids Research, 48 (20). 11394–11407. ISSN 0305-1048

Mantovani, Giovanna, Bastepe, Murat, Monk, David, de Sanctis, Luisa, Thiele, Susanne, Ahmed, S. Faisal, Bufo, Roberto, Choplin, Timothée, De Filippo, Gianpaolo, Devernois, Guillemette, Eggermann, Thomas, Ell, Francesca M., Garcia Ramirez, Aurora, Germain-Lee, Emily L., Groussin, Lionel, Hamdy, Neveen A.T., Hanna, Patrick, Hiort, Olaf, Jüppner, Harald, Kamenický, Peter, Knight, Nina, Le Norcy, Elvire, Lecumberri, Beatriz, Levine, Michael A., Mäkitie, Outi, Martin, Regina, Martos-Moreno, Gabriel Ángel, Minagawa, Manasori, Murray, Philip, Pereda, Arrate, Pignolo, Robert, Rejnmark, Lars, Rodado, Rebeca, Rothenbuhler, Anya, Saraff, Vrinda, Shoemaker, Ashley H., Shore, Eileen M., Silve, Caroline, Turan, Serap, Woods, Philip, Zillikens, M. Carola, Perez de Nanclares, Guiomar and Linglart, Agnès (2020) Recommendations for diagnosis and treatment of pseudohypoparathyroidism and related disorders: an updated practical tool for physicians and patients. Hormone Research in Paediatrics, 93 (3). pp. 182-196. ISSN 1663-2818

Sanchez-Mut, Jose Vicente, Glauser, Liliane, Monk, David and Gräff, Johannes (2020) Comprehensive analysis of PM20D1 QTL in Alzheimer’s disease. Clinical Epigenetics, 12 (1). ISSN 1868-7075

Demond, Hannah, Anvar, Zahra, Jahromi, Bahia Namavar, Sparago, Angela, Verma, Ankit, Davari, Maryam, Calzari, Luciano, Russo, Silvia, Jahromi, Mojgan Akbarzadeh, Monk, David, Andrews, Simon, Riccio, Andrea and Kelsey, Gavin (2019) A KHDC3L mutation resulting in recurrent hydatidiform mole causes genome-wide DNA methylation loss in oocytes and persistent imprinting defects post-fertilisation. Genome Medicine, 11 (1). ISSN 1756-994X

Savage, Philip, Monk, David, Hernandez Mora, Jose R., Van Der Westhuizen, Nick, Rauw, Jennifer, Tinker, Anna, Robinson, Wendy, Song, Qianqian, Seckl, Michael J. and Fisher, Rosemary A. (2019) A case of intraplacental gestational choriocarcinoma; Characterised by the methylation pattern of the early placenta and an absence of driver mutations. BMC Cancer, 19 (1). ISSN 1471-2407

Monk, David, Mackay, Deborah J. G., Eggermann, Thomas, Maher, Eamonn R. and Riccio, Andrea (2019) Genomic imprinting disorders: Lessons on how genome, epigenome and environment interact. Nature Reviews Genetics, 20 (4). pp. 235-248. ISSN 1471-0056

Monteagudo-Sánchez, Ana, Sánchez-Delgado, Marta, Mora, Jose Ramon Hernandez, Santamaría, Nuria Tubío, Gratacós, Eduard, Esteller, Manel, De Heredia, Miguel López, Nunes, Virgina, Choux, Cecile, Fauque, Patricia, De Nanclares, Guiomar Perez, Anton, Lauren, Elovitz, Michal A., Iglesias-Platas, Isabel and Monk, David (2019) Differences in expression rather than methylation at placenta-specific imprinted loci is associated with intrauterine growth restriction. Clinical Epigenetics, 11 (1). ISSN 1868-7075

Theka, Ilda, Sottile, Francesco, Cammisa, Marco, Bonnin, Sarah, Sanchez-Delgado, Marta, Di Vicino, Umberto, Neguembor, Maria Victoria, Arumugam, Karthik, Aulicino, Francesco, Monk, David, Riccio, Andrea and Cosma, Maria Pia (2019) Wnt/β-catenin signaling pathway safeguards epigenetic stability and homeostasis of mouse embryonic stem cells. Scientific Reports, 9. ISSN 2045-2322

Sanchez-Mut, Jose V., Heyn, Holger, Silva, Bianca A., Dixsaut, Lucie, Garcia-Esparcia, Paula, Vidal, Enrique, Sayols, Sergi, Glauser, Liliane, Monteagudo-Sánchez, Ana, Perez-Tur, Jordi, Ferrer, Isidre, Monk, David, Schneider, Bernard, Esteller, Manel and Gräff, Johannes (2018) PM20D1 is a quantitative trait locus associated with Alzheimer’s disease. Nature Medicine, 24 (5). pp. 598-603. ISSN 1078-8956

Martin-Trujillo, Alex, Vidal, Enrique, Monteagudo-Sánchez, Ana, Sanchez-Delgado, Marta, Moran, Sebastian, Hernandez Mora, Jose Ramon, Heyn, Holger, Guitart, Miriam, Esteller, Manel and Monk, David (2017) Copy number rather than epigenetic alterations are the major dictator of imprinted methylation in tumors. Nature Communications, 8 (1). ISSN 2041-1723

Sanchez-Delgado, Marta, Court, Franck, Vidal, Enrique, Medrano, Jose, Monteagudo-Sánchez, Ana, Martin-Trujillo, Alex, Tayama, Chiharu, Iglesias-Platas, Isabel, Kondova, Ivanela, Bontrop, Ronald, Poo-Llanillo, Maria Eugenia, Marques-Bonet, Tomas, Nakabayashi, Kazuhiko, Simón, Carlos and Monk, David (2016) Human oocyte-derived methylation differences persist in the placenta revealing widespread transient imprinting. PLoS Genetics, 12 (11). ISSN 1553-7390

Sanchez-Delgado, Marta, Martin-Trujillo, Alejandro, Tayama, Chiharu, Vidal, Enrique, Esteller, Manel, Iglesias-Platas, Isabel, Deo, Nandita, Barney, Olivia, Maclean, Ken, Hata, Kenichiro, Nakabayashi, Kazuhiko, Fisher, Rosemary, Monk, David and Eggermann, Thomas (2015) Absence of maternal methylation in biparental hydatidiform moles from women with NLRP7 maternal-effect mutations reveals widespread placenta-specific imprinting. PLoS Genetics, 11 (11). ISSN 1553-7390

Court, F., Tayama, C., Romanelli, V., Martin-Trujillo, A., Iglesias-Platas, I., Okamura, K., Sugahara, N., Simon, C., Moore, H., Harness, J. V., Keirstead, H., Sanchez-Mut, J. V., Kaneki, E., Lapunzina, P., Soejima, H., Wake, N., Esteller, M., Ogata, T., Hata, K., Nakabayashi, K. and Monk, D. (2014) Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment. Genome Research, 24 (4). pp. 554-569. ISSN 1088-9051