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: 970G>A; Gly324Ser
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: LDLR: 970G>A; Gly324Ser
Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels.
Journal Of Medical Genetics
van Leeuwen, Elisabeth M EM; Sabo, Aniko A; Bis, Joshua C JC; Huffman, Jennifer E JE; Manichaikul, Ani A; Smith, Albert V AV; Feitosa, Mary F MF; Demissie, Serkalem S; Joshi, Peter K PK; Duan, Qing Q; Marten, Jonathan J; van Klinken, Jan B JB; Surakka, Ida I; Nolte, Ilja M IM; Zhang, Weihua W; Mbarek, Hamdi H; Li-Gao, Ruifang R; Trompet, Stella S; Verweij, Niek N; Evangelou, Evangelos E; Lyytikäinen, Leo-Pekka LP; Tayo, Bamidele O BO; Deelen, Joris J; van der Most, Peter J PJ; van der Laan, Sander W SW; Arking, Dan E DE; Morrison, Alanna A; Dehghan, Abbas A; Franco, Oscar H OH; Hofman, Albert A; Rivadeneira, Fernando F; Sijbrands, Eric J EJ; Uitterlinden, Andre G AG; Mychaleckyj, Josyf C JC; Campbell, Archie A; Hocking, Lynne J LJ; Padmanabhan, Sandosh S; Brody, Jennifer A JA; Rice, Kenneth M KM; White, Charles C CC; Harris, Tamara T; Isaacs, Aaron A; Campbell, Harry H; Lange, Leslie A LA; Rudan, Igor I; Kolcic, Ivana I; Navarro, Pau P; Zemunik, Tatijana T; Salomaa, Veikko V; , ; Kooner, Angad S AS; Kooner, Jaspal S JS; Lehne, Benjamin B; Scott, William R WR; Tan, Sian-Tsung ST; de Geus, Eco J EJ; Milaneschi, Yuri Y; Penninx, Brenda W J H BW; Willemsen, Gonneke G; de Mutsert, Renée R; Ford, Ian I; Gansevoort, Ron T RT; Segura-Lepe, Marcelo P MP; Raitakari, Olli T OT; Viikari, Jorma S JS; Nikus, Kjell K; Forrester, Terrence T; McKenzie, Colin A CA; de Craen, Anton J M AJ; de Ruijter, Hester M HM; , ; Pasterkamp, Gerard G; Snieder, Harold H; Oldehinkel, Albertine J AJ; Slagboom, P Eline PE; Cooper, Richard S RS; Kähönen, Mika M; Lehtimäki, Terho T; Elliott, Paul P; van der Harst, Pim P; Jukema, J Wouter JW; Mook-Kanamori, Dennis O DO; Boomsma, Dorret I DI; Chambers, John C JC; Swertz, Morris M; Ripatti, Samuli S; Willems van Dijk, Ko K; Vitart, Veronique V; Polasek, Ozren O; Hayward, Caroline C; Wilson, James G JG; Wilson, James F JF; Gudnason, Vilmundur V; Rich, Stephen S SS; Psaty, Bruce M BM; Borecki, Ingrid B IB; Boerwinkle, Eric E; Rotter, Jerome I JI; Cupples, L Adrienne LA; van Duijn, Cornelia M CM
The UK10K project identifies rare variants in health and disease.
Nature
, ; Walter, Klaudia K; Min, Josine L JL; Huang, Jie J; Crooks, Lucy L; Memari, Yasin Y; McCarthy, Shane S; Perry, John R B JR; Xu, ChangJiang C; Futema, Marta M; Lawson, Daniel D; Iotchkova, Valentina V; Schiffels, Stephan S; Hendricks, Audrey E AE; Danecek, Petr P; Li, Rui R; Floyd, James J; Wain, Louise V LV; Barroso, Inês I; Humphries, Steve E SE; Hurles, Matthew E ME; Zeggini, Eleftheria E; Barrett, Jeffrey C JC; Plagnol, Vincent V; Richards, J Brent JB; Greenwood, Celia M T CM; Timpson, Nicholas J NJ; Durbin, Richard R; Soranzo, Nicole N
Publication Date: 2015-10-01
Variant appearance in text: LDLR: G324S; rs72658860
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Plos One
Olfson, Emily E; Cottrell, Catherine E CE; Davidson, Nicholas O NO; Gurnett, Christina A CA; Heusel, Jonathan W JW; Stitziel, Nathan O NO; Chen, Li-Shiun LS; Hartz, Sarah S; Nagarajan, Rakesh R; Saccone, Nancy L NL; Bierut, Laura J LJ
Publication Date: 2015
Variant appearance in text: LDLR: 970G>A; Gly324Ser; rs72658860