Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.
Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
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: 152G>A; Arg51Gln
NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
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