Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.
The Lancet. Oncology
Garcia-Pelaez, José J; Barbosa-Matos, Rita R; Lobo, Silvana S; Dias, Alexandre A; Garrido, Luzia L; Castedo, Sérgio S; Sousa, Sónia S; Pinheiro, Hugo H; Sousa, Liliana L; Monteiro, Rita R; Maqueda, Joaquin J JJ; Fernandes, Susana S; Carneiro, Fátima F; Pinto, Nádia N; Lemos, Carolina C; Pinto, Carla C; Teixeira, Manuel R MR; Aretz, Stefan S; Bajalica-Lagercrantz, Svetlana S; Balmaña, Judith J; Blatnik, Ana A; Benusiglio, Patrick R PR; Blanluet, Maud M; Bours, Vicent V; Brems, Hilde H; Brunet, Joan J; Calistri, Daniele D; Capellá, Gabriel G; Carrera, Sergio S; Colas, Chrystelle C; Dahan, Karin K; de Putter, Robin R; Desseignés, Camille C; Domínguez-Garrido, Elena E; Egas, Conceição C; Evans, D Gareth DG; Feret, Damien D; Fewings, Eleanor E; Fitzgerald, Rebecca C RC; Coulet, Florence F; Garcia-Barcina, María M; Genuardi, Maurizio M; Golmard, Lisa L; Hackmann, Karl K; Hanson, Helen H; Holinski-Feder, Elke E; Hüneburg, Robert R; Krajc, Mateja M; Lagerstedt-Robinson, Kristina K; Lázaro, Conxi C; Ligtenberg, Marjolijn J L MJL; Martínez-Bouzas, Cristina C; Merino, Sonia S; Michils, Geneviève G; Novaković, Srdjan S; Patiño-García, Ana A; Ranzani, Guglielmina Nadia GN; Schröck, Evelin E; Silva, Inês I; Silveira, Catarina C; Soto, José L JL; Spier, Isabel I; Steinke-Lange, Verena V; Tedaldi, Gianluca G; Tejada, María-Isabel MI; Woodward, Emma R ER; Tischkowitz, Marc M; Hoogerbrugge, Nicoline N; Oliveira, Carla C
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Validation of Next-Generation Sequencing of Entire Mitochondrial Genomes and the Diversity of Mitochondrial DNA Mutations in Oral Squamous Cell Carcinoma.
Plos One
Kloss-Brandstätter, Anita A; Weissensteiner, Hansi H; Erhart, Gertraud G; Schäfer, Georg G; Forer, Lukas L; Schönherr, Sebastian S; Pacher, Dominic D; Seifarth, Christof C; Stöckl, Andrea A; Fendt, Liane L; Sottsas, Irma I; Klocker, Helmut H; Huck, Christian W CW; Rasse, Michael M; Kronenberg, Florian F; Kloss, Frank R FR