Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.
Frontiers In Genetics
Aguiar, Talita T; Teixeira, Anne A; Scliar, MarĂlia O MO; Sobral de Barros, Juliana J; Lemes, Renan B RB; Souza, Silvia S; Tolezano, Giovanna G; Santos, Fernanda F; Tojal, Israel I; Cypriano, Monica M; Caminada de Toledo, Silvia Regina SR; Valadares, EugĂȘnia E; Borges Pinto, Raquel R; Pinto Artigalas, Osvaldo Afonso OA; Caetano de Aguirre Neto, Joaquim J; Novak, Estela E; Cristofani, Lilian Maria LM; Miura Sugayama, Sofia M SM; Odone, Vicente V; Cunha, Isabela Werneck IW; Lima da Costa, Cecilia Maria CM; Rosenberg, Carla C; Krepischi, Ana A
Publication Date: 2022
Variant appearance in text: IGHMBP2: 2026G>A; rs149577588
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
Cell Reports
Gonzaga-Jauregui, Claudia C; Harel, Tamar T; Gambin, Tomasz T; Kousi, Maria M; Griffin, Laurie B LB; Francescatto, Ludmila L; Ozes, Burcak B; Karaca, Ender E; Jhangiani, Shalini N SN; Bainbridge, Matthew N MN; Lawson, Kim S KS; Pehlivan, Davut D; Okamoto, Yuji Y; Withers, Marjorie M; Mancias, Pedro P; Slavotinek, Anne A; Reitnauer, Pamela J PJ; Goksungur, Meryem T MT; Shy, Michael M; Crawford, Thomas O TO; Koenig, Michel M; Willer, Jason J; Flores, Brittany N BN; Pediaditrakis, Igor I; Us, Onder O; Wiszniewski, Wojciech W; Parman, Yesim Y; Antonellis, Anthony A; Muzny, Donna M DM; , ; Katsanis, Nicholas N; Battaloglu, Esra E; Boerwinkle, Eric E; Gibbs, Richard A RA; Lupski, James R JR
Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.
Plos Genetics
Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO