Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: LDLR: 967G>A; Gly323Ser
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Nature Communications
Goodrich, Julia K JK; Singer-Berk, Moriel M; Son, Rachel R; Sveden, Abigail A; Wood, Jordan J; England, Eleina E; Cole, Joanne B JB; Weisburd, Ben B; Watts, Nick N; Caulkins, Lizz L; Dornbos, Peter P; Koesterer, Ryan R; Zappala, Zachary Z; Zhang, Haichen H; Maloney, Kristin A KA; Dahl, Andy A; Aguilar-Salinas, Carlos A CA; Atzmon, Gil G; Barajas-Olmos, Francisco F; Barzilai, Nir N; Blangero, John J; Boerwinkle, Eric E; Bonnycastle, Lori L LL; Bottinger, Erwin E; Bowden, Donald W DW; Centeno-Cruz, Federico F; Chambers, John C JC; Chami, Nathalie N; Chan, Edmund E; Chan, Juliana J; Cheng, Ching-Yu CY; Cho, Yoon Shin YS; Contreras-Cubas, Cecilia C; Córdova, Emilio E; Correa, Adolfo A; DeFronzo, Ralph A RA; Duggirala, Ravindranath R; Dupuis, Josée J; Garay-Sevilla, Ma Eugenia ME; García-Ortiz, Humberto H; Gieger, Christian C; Glaser, Benjamin B; González-Villalpando, Clicerio C; Gonzalez, Ma Elena ME; Grarup, Niels N; Groop, Leif L; Gross, Myron M; Haiman, Christopher C; Han, Sohee S; Hanis, Craig L CL; Hansen, Torben T; Heard-Costa, Nancy L NL; Henderson, Brian E BE; Hernandez, Juan Manuel Malacara JMM; Hwang, Mi Yeong MY; Islas-Andrade, Sergio S; Jørgensen, Marit E ME; Kang, Hyun Min HM; Kim, Bong-Jo BJ; Kim, Young Jin YJ; Koistinen, Heikki A HA; Kooner, Jaspal Singh JS; Kuusisto, Johanna J; Kwak, Soo-Heon SH; Laakso, Markku M; Lange, Leslie L; Lee, Jong-Young JY; Lee, Juyoung J; Lehman, Donna M DM; Linneberg, Allan A; Liu, Jianjun J; Loos, Ruth J F RJF; Lyssenko, Valeriya V; Ma, Ronald C W RCW; Martínez-Hernández, Angélica A; Meigs, James B JB; Meitinger, Thomas T; Mendoza-Caamal, Elvia E; Mohlke, Karen L KL; Morris, Andrew D AD; Morrison, Alanna C AC; Ng, Maggie C Y MCY; Nilsson, Peter M PM; O'Donnell, Christopher J CJ; Orozco, Lorena L; Palmer, Colin N A CNA; Park, Kyong Soo KS; Post, Wendy S WS; Pedersen, Oluf O; Preuss, Michael M; Psaty, Bruce M BM; Reiner, Alexander P AP; Revilla-Monsalve, Cristina C; Rich, Stephen S SS; Rotter, Jerome I JI; Saleheen, Danish D; Schurmann, Claudia C; Sim, Xueling X; Sladek, Rob R; Small, Kerrin S KS; So, Wing Yee WY; Spector, Timothy D TD; Strauch, Konstantin K; Strom, Tim M TM; Tai, E Shyong ES; Tam, Claudia H T CHT; Teo, Yik Ying YY; Thameem, Farook F; Tomlinson, Brian B; Tracy, Russell P RP; Tuomi, Tiinamaija T; Tuomilehto, Jaakko J; Tusié-Luna, Teresa T; van Dam, Rob M RM; Vasan, Ramachandran S RS; Wilson, James G JG; Witte, Daniel R DR; Wong, Tien-Yin TY; , ; Burtt, Noël P NP; Zaitlen, Noah N; McCarthy, Mark I MI; Boehnke, Michael M; Pollin, Toni I TI; Flannick, Jason J; Mercader, Josep M JM; O'Donnell-Luria, Anne A; Baxter, Samantha S; Florez, Jose C JC; MacArthur, Daniel G DG; Udler, Miriam S MS
Publication Date: 2021-06-09
Variant appearance in text: LDLR: 967G>A; Gly323Ser
Improving Familial Hypercholesterolemia Index Case Detection: Sequential Active Screening from Centralized Analytical Data.
Journal Of Clinical Medicine
Sabatel-Pérez, Fernando F; Sánchez-Prieto, Joaquín J; Becerra-Muñoz, Víctor Manuel VM; Alonso-Briales, Juan Horacio JH; Mata, Pedro P; Rodríguez-Padial, Luis L
Publication Date: 2021-02-13
Variant appearance in text: LDLR: 967G>A; Gly323Ser
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
Genome Research
Amendola, Laura M LM; Dorschner, Michael O MO; Robertson, Peggy D PD; Salama, Joseph S JS; Hart, Ragan R; Shirts, Brian H BH; Murray, Mitzi L ML; Tokita, Mari J MJ; Gallego, Carlos J CJ; Kim, Daniel Seung DS; Bennett, James T JT; Crosslin, David R DR; Ranchalis, Jane J; Jones, Kelly L KL; Rosenthal, Elisabeth A EA; Jarvik, Ella R ER; Itsara, Andy A; Turner, Emily H EH; Herman, Daniel S DS; Schleit, Jennifer J; Burt, Amber A; Jamal, Seema M SM; Abrudan, Jenica L JL; Johnson, Andrew D AD; Conlin, Laura K LK; Dulik, Matthew C MC; Santani, Avni A; Metterville, Danielle R DR; Kelly, Melissa M; Foreman, Ann Katherine M AK; Lee, Kristy K; Taylor, Kent D KD; Guo, Xiuqing X; Crooks, Kristy K; Kiedrowski, Lesli A LA; Raffel, Leslie J LJ; Gordon, Ora O; Machini, Kalotina K; Desnick, Robert J RJ; Biesecker, Leslie G LG; Lubitz, Steven A SA; Mulchandani, Surabhi S; Cooper, Greg M GM; Joffe, Steven S; Richards, C Sue CS; Yang, Yaoping Y; Rotter, Jerome I JI; Rich, Stephen S SS; O'Donnell, Christopher J CJ; Berg, Jonathan S JS; Spinner, Nancy B NB; Evans, James P JP; Fullerton, Stephanie M SM; Leppig, Kathleen A KA; Bennett, Robin L RL; Bird, Thomas T; Sybert, Virginia P VP; Grady, William M WM; Tabor, Holly K HK; Kim, Jerry H JH; Bamshad, Michael J MJ; Wilfond, Benjamin B; Motulsky, Arno G AG; Scott, C Ronald CR; Pritchard, Colin C CC; Walsh, Tom D TD; Burke, Wylie W; Raskind, Wendy H WH; Byers, Peter P; Hisama, Fuki M FM; Rehm, Heidi H; Nickerson, Debbie A DA; Jarvik, Gail P GP
Publication Date: 2015-03
Variant appearance in text: LDLR: 967G>A; Gly323Ser