Common and rare variants in patients with early onset drusen maculopathy.
Clinical Genetics
de Breuk, Anita A; Lechanteur, Yara T E YTE; Astuti, Galuh G; Galbany, Jordi Corominas JC; Klaver, Caroline C W CCW; Hoyng, Carel B CB; den Hollander, Anneke I AI
Publication Date: 2022-11
Variant appearance in text: PLIN1: 269T>C; Leu90Pro
Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes.
Nature Communications
Akbari, Parsa P; Sosina, Olukayode A OA; Bovijn, Jonas J; Landheer, Karl K; Nielsen, Jonas B JB; Kim, Minhee M; Aykul, Senem S; De, Tanima T; Haas, Mary E ME; Hindy, George G; Lin, Nan N; Dinsmore, Ian R IR; Luo, Jonathan Z JZ; Hectors, Stefanie S; Geraghty, Benjamin B; Germino, Mary M; Panagis, Lampros L; Parasoglou, Prodromos P; Walls, Johnathon R JR; Halasz, Gabor G; Atwal, Gurinder S GS; , ; , ; Jones, Marcus M; LeBlanc, Michelle G MG; Still, Christopher D CD; Carey, David J DJ; Giontella, Alice A; Orho-Melander, Marju M; Berumen, Jaime J; Kuri-Morales, Pablo P; Alegre-Díaz, Jesus J; Torres, Jason M JM; Emberson, Jonathan R JR; Collins, Rory R; Rader, Daniel J DJ; Zambrowicz, Brian B; Murphy, Andrew J AJ; Balasubramanian, Suganthi S; Overton, John D JD; Reid, Jeffrey G JG; Shuldiner, Alan R AR; Cantor, Michael M; Abecasis, Goncalo R GR; Ferreira, Manuel A R MAR; Sleeman, Mark W MW; Gusarova, Viktoria V; Altarejos, Judith J; Harris, Charles C; Economides, Aris N AN; Idone, Vincent V; Karalis, Katia K; Della Gatta, Giusy G; Mirshahi, Tooraj T; Yancopoulos, George D GD; Melander, Olle O; Marchini, Jonathan J; Tapia-Conyer, Roberto R; Locke, Adam E AE; Baras, Aris A; Verweij, Niek N; Lotta, Luca A LA
Publication Date: 2022-08-23
Variant appearance in text: PLIN1: Leu90Pro; rs139271800
Identification of Rare Loss-of-Function Genetic Variation Regulating Body Fat Distribution.
The Journal Of Clinical Endocrinology And Metabolism
Koprulu, Mine M; Zhao, Yajie Y; Wheeler, Eleanor E; Dong, Liang L; Rocha, Nuno N; Li, Chen C; Griffin, John D JD; Patel, Satish S; Van de Streek, Marcel M; Glastonbury, Craig A CA; Stewart, Isobel D ID; Day, Felix R FR; Luan, Jian'an J; Bowker, Nicholas N; Wittemans, Laura B L LBL; Kerrison, Nicola D ND; Cai, Lina L; Lucarelli, Debora M E DME; Barroso, Inês I; McCarthy, Mark I MI; Scott, Robert A RA; Saudek, Vladimir V; Small, Kerrin S KS; Wareham, Nicholas J NJ; Semple, Robert K RK; Perry, John R B JRB; O'Rahilly, Stephen S; Lotta, Luca A LA; Langenberg, Claudia C; Savage, David B DB
Publication Date: 2022-03-24
Variant appearance in text: PLIN1: L90P; rs139271800
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: PLIN1: 269T>C; Leu90Pro
Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
Nature Genetics
Klarin, Derek D; Damrauer, Scott M SM; Cho, Kelly K; Sun, Yan V YV; Teslovich, Tanya M TM; Honerlaw, Jacqueline J; Gagnon, David R DR; DuVall, Scott L SL; Li, Jin J; Peloso, Gina M GM; Chaffin, Mark M; Small, Aeron M AM; Huang, Jie J; Tang, Hua H; Lynch, Julie A JA; Ho, Yuk-Lam YL; Liu, Dajiang J DJ; Emdin, Connor A CA; Li, Alexander H AH; Huffman, Jennifer E JE; Lee, Jennifer S JS; Natarajan, Pradeep P; Chowdhury, Rajiv R; Saleheen, Danish D; Vujkovic, Marijana M; Baras, Aris A; Pyarajan, Saiju S; Di Angelantonio, Emanuele E; Neale, Benjamin M BM; Naheed, Aliya A; Khera, Amit V AV; Danesh, John J; Chang, Kyong-Mi KM; Abecasis, Gonçalo G; Willer, Cristen C; Dewey, Frederick E FE; Carey, David J DJ; , ; , ; , ; , ; Concato, John J; Gaziano, J Michael JM; O'Donnell, Christopher J CJ; Tsao, Philip S PS; Kathiresan, Sekar S; Rader, Daniel J DJ; Wilson, Peter W F PWF; Assimes, Themistocles L TL