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: 1733T>C; Val578Ala
Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE
Publication Date: 2022-11-15
Variant appearance in text: LDLR: 1733T>C; Val578Ala
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers.
Nature Genetics
Sidore, Carlo C; Busonero, Fabio F; Maschio, Andrea A; Porcu, Eleonora E; Naitza, Silvia S; Zoledziewska, Magdalena M; Mulas, Antonella A; Pistis, Giorgio G; Steri, Maristella M; Danjou, Fabrice F; Kwong, Alan A; Ortega Del Vecchyo, Vicente Diego VD; Chiang, Charleston W K CWK; Bragg-Gresham, Jennifer J; Pitzalis, Maristella M; Nagaraja, Ramaiah R; Tarrier, Brendan B; Brennan, Christine C; Uzzau, Sergio S; Fuchsberger, Christian C; Atzeni, Rossano R; Reinier, Frederic F; Berutti, Riccardo R; Huang, Jie J; Timpson, Nicholas J NJ; Toniolo, Daniela D; Gasparini, Paolo P; Malerba, Giovanni G; Dedoussis, George G; Zeggini, Eleftheria E; Soranzo, Nicole N; Jones, Chris C; Lyons, Robert R; Angius, Andrea A; Kang, Hyun M HM; Novembre, John J; Sanna, Serena S; Schlessinger, David D; Cucca, Francesco F; Abecasis, Gonçalo R GR
Publication Date: 2015-11
Variant appearance in text: LDLR: V578A; rs72658864
Methods for association analysis and meta-analysis of rare variants in families.
Genetic Epidemiology
Feng, Shuang S; Pistis, Giorgio G; Zhang, He H; Zawistowski, Matthew M; Mulas, Antonella A; Zoledziewska, Magdalena M; Holmen, Oddgeir L OL; Busonero, Fabio F; Sanna, Serena S; Hveem, Kristian K; Willer, Cristen C; Cucca, Francesco F; Liu, Dajiang J DJ; Abecasis, Gonçalo R GR
Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability.
Plos Genetics
Sanna, Serena S; Li, Bingshan B; Mulas, Antonella A; Sidore, Carlo C; Kang, Hyun M HM; Jackson, Anne U AU; Piras, Maria Grazia MG; Usala, Gianluca G; Maninchedda, Giuseppe G; Sassu, Alessandro A; Serra, Fabrizio F; Palmas, Maria Antonietta MA; Wood, William H WH; Njølstad, Inger I; Laakso, Markku M; Hveem, Kristian K; Tuomilehto, Jaakko J; Lakka, Timo A TA; Rauramaa, Rainer R; Boehnke, Michael M; Cucca, Francesco F; Uda, Manuela M; Schlessinger, David D; Nagaraja, Ramaiah R; Abecasis, Gonçalo R GR
Publication Date: 2011-07
Variant appearance in text: LDLR: V578A; rs72658864