Identification of New Copy Number Variation and the Evaluation of a CNV Detection Tool for NGS Panel Data in Polish Familial Hypercholesterolemia Patients.
Genes
Rutkowska, Lena L; Pinkier, Iwona I; Sałacińska, Kinga K; Kępczyński, Łukasz Ł; Salachna, Dominik D; Lewek, Joanna J; Banach, Maciej M; Matusik, Paweł P; Starostecka, Ewa E; Lewiński, Andrzej A; Płoski, Rafał R; Stawiński, Piotr P; Gach, Agnieszka A
Integrated molecular drivers coordinate biological and clinical states in melanoma.
Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Systematic discovery of complex insertions and deletions in human cancers.
Nature Medicine
Ye, Kai K; Wang, Jiayin J; Jayasinghe, Reyka R; Lameijer, Eric-Wubbo EW; McMichael, Joshua F JF; Ning, Jie J; McLellan, Michael D MD; Xie, Mingchao M; Cao, Song S; Yellapantula, Venkata V; Huang, Kuan-lin KL; Scott, Adam A; Foltz, Steven S; Niu, Beifang B; Johnson, Kimberly J KJ; Moed, Matthijs M; Slagboom, P Eline PE; Chen, Feng F; Wendl, Michael C MC; Ding, Li L
Recurrent inactivating RASA2 mutations in melanoma.
Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Association of two common polymorphisms of apolipoprotein A5 gene with metabolic syndrome indicators in a North Iranian population, a cross-sectional study.
Influence of genetic variants in the apolipoprotein A5 and C3 gene on lipids, lipoproteins, and its association with coronary artery disease in Indians.
Effects of variations in the APOA1/C3/A4/A5 gene cluster on different parameters of postprandial lipid metabolism in healthy young men.
Journal Of Lipid Research
Delgado-Lista, Javier J; Perez-Jimenez, Francisco F; Ruano, Juan J; Perez-Martinez, Pablo P; Fuentes, Francisco F; Criado-Garcia, Juan J; Parnell, Laurence D LD; Garcia-Rios, Antonio A; Ordovas, Jose M JM; Lopez-Miranda, Jose J