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
Pignata, Laura L; Cecere, Francesco F; Verma, Ankit A; Hay Mele, Bruno B; Monticelli, Maria M; Acurzio, Basilia B; Giaccari, Carlo C; Sparago, Angela A; Hernandez Mora, Jose Ramon JR; Monteagudo-Sánchez, Ana A; Esteller, Manel M; Pereda, Arrate A; Tenorio-Castano, Jair J; Palumbo, Orazio O; Carella, Massimo M; Prontera, Paolo P; Piscopo, Carmelo C; Accadia, Maria M; Lapunzina, Pablo P; Cubellis, Maria Vittoria MV; de Nanclares, Guiomar Perez GP; Monk, David D; Riccio, Andrea A; Cerrato, Flavia F
NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y