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, Marília 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, Eugênia 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
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10
Variant appearance in text: GCKR: 701A>C; Gln234Pro
Evaluation of Polygenic Determinants of Non-Alcoholic Fatty Liver Disease (NAFLD) By a Candidate Genes Resequencing Strategy.
Scientific Reports
Di Costanzo, Alessia A; Belardinilli, Francesca F; Bailetti, Diego D; Sponziello, Marialuisa M; D'Erasmo, Laura L; Polimeni, Licia L; Baratta, Francesco F; Pastori, Daniele D; Ceci, Fabrizio F; Montali, Anna A; Girelli, Gabriella G; De Masi, Bruna B; Angeloni, Antonio A; Giannini, Giuseppe G; Del Ben, Maria M; Angelico, Francesco F; Arca, Marcello M
Publication Date: 2018-02-27
Variant appearance in text: GCKR: Gln234Pro; rs147073127
The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.
Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26
Variant appearance in text: GCKR: 701A>C; Q234P; rs147073127
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Inheritance of rare functional GCKR variants and their contribution to triglyceride levels in families.
Human Molecular Genetics
Rees, Matthew G MG; Raimondo, Anne A; Wang, Jian J; Ban, Matthew R MR; Davis, Mindy I MI; Barrett, Amy A; Ranft, Jessica J; Jagdhuhn, David D; Waterstradt, Rica R; Baltrusch, Simone S; Simeonov, Anton A; Collins, Francis S FS; Hegele, Robert A RA; Gloyn, Anna L AL
Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes.
The Journal Of Clinical Investigation
Rees, Matthew G MG; Ng, David D; Ruppert, Sarah S; Turner, Clesson C; Beer, Nicola L NL; Swift, Amy J AJ; Morken, Mario A MA; Below, Jennifer E JE; Blech, Ilana I; , ; Mullikin, James C JC; McCarthy, Mark I MI; Biesecker, Leslie G LG; Gloyn, Anna L AL; Collins, Francis S FS
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.
Nature Genetics
Rivas, Manuel A MA; Beaudoin, Mélissa M; Gardet, Agnes A; Stevens, Christine C; Sharma, Yashoda Y; Zhang, Clarence K CK; Boucher, Gabrielle G; Ripke, Stephan S; Ellinghaus, David D; Burtt, Noel N; Fennell, Tim T; Kirby, Andrew A; Latiano, Anna A; Goyette, Philippe P; Green, Todd T; Halfvarson, Jonas J; Haritunians, Talin T; Korn, Joshua M JM; Kuruvilla, Finny F; Lagacé, Caroline C; Neale, Benjamin B; Lo, Ken Sin KS; Schumm, Phil P; Törkvist, Leif L; , ; , ; , ; Dubinsky, Marla C MC; Brant, Steven R SR; Silverberg, Mark S MS; Duerr, Richard H RH; Altshuler, David D; Gabriel, Stacey S; Lettre, Guillaume G; Franke, Andre A; D'Amato, Mauro M; McGovern, Dermot P B DP; Cho, Judy H JH; Rioux, John D JD; Xavier, Ramnik J RJ; Daly, Mark J MJ