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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.
Pignata L, Cecere F, Verma A, Hay Mele B, Monticelli M, Acurzio B, Giaccari C, Sparago A, Hernandez Mora JR, Monteagudo-Sánchez A, Esteller M, Pereda A, Tenorio-Castano J, Palumbo O, Carella M, Prontera P, Piscopo C, Accadia M, Lapunzina P, Cubellis MV, de Nanclares GP, Monk D, Riccio A, Cerrato F. Pignata L, et al. Among authors: monk d. Clin Epigenetics. 2022 May 28;14(1):71. doi: 10.1186/s13148-022-01292-w. Clin Epigenetics. 2022. PMID: 35643636 Free PMC article.
Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism.
Romanelli V, Nevado J, Fraga M, Trujillo AM, Mori MÁ, Fernández L, Pérez de Nanclares G, Martínez-Glez V, Pita G, Meneses H, Gracia R, García-Miñaur S, García de Miguel P, Lecumberri B, Rodríguez JI, González Neira A, Monk D, Lapunzina P. Romanelli V, et al. Among authors: monk d. J Med Genet. 2011 Mar;48(3):212-6. doi: 10.1136/jmg.2010.081919. Epub 2010 Nov 19. J Med Genet. 2011. PMID: 21097775
DNA methylation contributes to natural human variation.
Heyn H, Moran S, Hernando-Herraez I, Sayols S, Gomez A, Sandoval J, Monk D, Hata K, Marques-Bonet T, Wang L, Esteller M. Heyn H, et al. Among authors: monk d. Genome Res. 2013 Sep;23(9):1363-72. doi: 10.1101/gr.154187.112. Epub 2013 Aug 1. Genome Res. 2013. PMID: 23908385 Free PMC article.
Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment.
Court F, Tayama C, Romanelli V, Martin-Trujillo A, Iglesias-Platas I, Okamura K, Sugahara N, Simón C, Moore H, Harness JV, Keirstead H, Sanchez-Mut JV, Kaneki E, Lapunzina P, Soejima H, Wake N, Esteller M, Ogata T, Hata K, Nakabayashi K, Monk D. Court F, et al. Among authors: monk d. Genome Res. 2014 Apr;24(4):554-69. doi: 10.1101/gr.164913.113. Epub 2014 Jan 8. Genome Res. 2014. PMID: 24402520 Free PMC article.
202 results