Visual interpretation, not SUV ratios, is the ideal method to interpret 18F-DOPA PET scans to aid in the cure of patients with focal congenital hyperinsulinism.
Plos One
Garg, Pradeep K PK; Putegnat, Burton B; Truong, Lisa L; Reynolds, Courtney C; Sanchez, Irene I; Nedrelow, Jonathan K JK; Uffman, John J; Lokitz, Stephen J SJ; Nazih, Rachid R; Garg, Sudha S; Thornton, Paul S PS
Publication Date: 2020
Variant appearance in text: ABCC8: 1252T>C; Cys418Arg
Characterization of Exome Variants and Their Metabolic Impact in 6,716 American Indians from the Southwest US.
American Journal Of Human Genetics
Kim, Hye In HI; Ye, Bin B; Gosalia, Nehal N; , ; Köroğlu, Çiğdem Ç; Hanson, Robert L RL; Hsueh, Wen-Chi WC; Knowler, William C WC; Baier, Leslie J LJ; Bogardus, Clifton C; Shuldiner, Alan R AR; Van Hout, Cristopher V CV
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: ABCC8: 1252T>C; Cys418Arg
Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.
Frontiers In Genetics
Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS
Publication Date: 2019
Variant appearance in text: ABCC8: C418R; rs67254669
Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps.
Nature Genetics
Mahajan, Anubha A; Taliun, Daniel D; Thurner, Matthias M; Robertson, Neil R NR; Torres, Jason M JM; Rayner, N William NW; Payne, Anthony J AJ; Steinthorsdottir, Valgerdur V; Scott, Robert A RA; Grarup, Niels N; Cook, James P JP; Schmidt, Ellen M EM; Wuttke, Matthias M; Sarnowski, Chloé C; Mägi, Reedik R; Nano, Jana J; Gieger, Christian C; Trompet, Stella S; Lecoeur, Cécile C; Preuss, Michael H MH; Prins, Bram Peter BP; Guo, Xiuqing X; Bielak, Lawrence F LF; Below, Jennifer E JE; Bowden, Donald W DW; Chambers, John Campbell JC; Kim, Young Jin YJ; Ng, Maggie C Y MCY; Petty, Lauren E LE; Sim, Xueling X; Zhang, Weihua W; Bennett, Amanda J AJ; Bork-Jensen, Jette J; Brummett, Chad M CM; Canouil, Mickaël M; Ec Kardt, Kai-Uwe KU; Fischer, Krista K; Kardia, Sharon L R SLR; Kronenberg, Florian F; Läll, Kristi K; Liu, Ching-Ti CT; Locke, Adam E AE; Luan, Jian'an J; Ntalla, Ioanna I; Nylander, Vibe V; Schönherr, Sebastian S; Schurmann, Claudia C; Yengo, Loïc L; Bottinger, Erwin P EP; Brandslund, Ivan I; Christensen, Cramer C; Dedoussis, George G; Florez, Jose C JC; Ford, Ian I; Franco, Oscar H OH; Frayling, Timothy M TM; Giedraitis, Vilmantas V; Hackinger, Sophie S; Hattersley, Andrew T AT; Herder, Christian C; Ikram, M Arfan MA; Ingelsson, Martin M; Jørgensen, Marit E ME; Jørgensen, Torben T; Kriebel, Jennifer J; Kuusisto, Johanna J; Ligthart, Symen S; Lindgren, Cecilia M CM; Linneberg, Allan A; Lyssenko, Valeriya V; Mamakou, Vasiliki V; Meitinger, Thomas T; Mohlke, Karen L KL; Morris, Andrew D AD; Nadkarni, Girish G; Pankow, James S JS; Peters, Annette A; Sattar, Naveed N; Stančáková, Alena A; Strauch, Konstantin K; Taylor, Kent D KD; Thorand, Barbara B; Thorleifsson, Gudmar G; Thorsteinsdottir, Unnur U; Tuomilehto, Jaakko J; Witte, Daniel R DR; Dupuis, Josée J; Peyser, Patricia A PA; Zeggini, Eleftheria E; Loos, Ruth J F RJF; Froguel, Philippe P; Ingelsson, Erik E; Lind, Lars L; Groop, Leif L; Laakso, Markku M; Collins, Francis S FS; Jukema, J Wouter JW; Palmer, Colin N A CNA; Grallert, Harald H; Metspalu, Andres A; Dehghan, Abbas A; Köttgen, Anna A; Abecasis, Goncalo R GR; Meigs, James B JB; Rotter, Jerome I JI; Marchini, Jonathan J; Pedersen, Oluf O; Hansen, Torben T; Langenberg, Claudia C; Wareham, Nicholas J NJ; Stefansson, Kari K; Gloyn, Anna L AL; Morris, Andrew P AP; Boehnke, Michael M; McCarthy, Mark I MI
Publication Date: 2018-11
Variant appearance in text: ABCC8: Cys418Arg; rs67254669
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: ABCC8: 1252T>C; C418R; rs67254669
Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.
Plos One
Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E
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
Publication Date: 2014
Variant appearance in text: ABCC8: C418R; rs67254669