Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis.
Plos One
Perne, Claudia C; Peters, Sophia S; Cartolano, Maria M; Horpaopan, Sukanya S; Grimm, Christina C; Altmüller, Janine J; Sommer, Anna K AK; Hillmer, Axel M AM; Thiele, Holger H; Odenthal, Margarete M; Möslein, Gabriela G; Adam, Ronja R; Sivalingam, Sugirthan S; Kirfel, Jutta J; Schweiger, Michal R MR; Peifer, Martin M; Spier, Isabel I; Aretz, Stefan S
Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis.
Plos One
Perne, Claudia C; Peters, Sophia S; Cartolano, Maria M; Horpaopan, Sukanya S; Grimm, Christina C; Altmüller, Janine J; Sommer, Anna K AK; Hillmer, Axel M AM; Thiele, Holger H; Odenthal, Margarete M; Möslein, Gabriela G; Adam, Ronja R; Sivalingam, Sugirthan S; Kirfel, Jutta J; Schweiger, Michal R MR; Peifer, Martin M; Spier, Isabel I; Aretz, Stefan S
Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder.
Plos One
Reis, Viviane Neri de Souza VN; Kitajima, João Paulo JP; Tahira, Ana Carolina AC; Feio-Dos-Santos, Ana Cecília AC; Fock, Rodrigo Ambrósio RA; Lisboa, Bianca Cristina Garcia BC; Simões, Sérgio Nery SN; Krepischi, Ana C V AC; Rosenberg, Carla C; Lourenço, Naila Cristina NC; Passos-Bueno, Maria Rita MR; Brentani, Helena H
Publication Date: 2017
Variant appearance in text: TSHZ3: P585L; rs61747224
A Landscape of Pharmacogenomic Interactions in Cancer.
Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11
Variant appearance in text: TSHZ3: P585L; rs61747224