{"doi":"10.1038/s41591-020-0893-5","title":"The effect of LRRK2 loss-of-function variants in humans","abstract":"Human genetic variants predicted to cause loss-of-function of protein-coding genes (pLoF variants) provide natural in vivo models of human gene inactivation and can be valuable indicators of gene function and the potential toxicity of therapeutic inhibitors targeting these genes<sup>1,2</sup>. Gain-of-kinase-function variants in LRRK2 are known to significantly increase the risk of Parkinson's disease<sup>3,4</sup>, suggesting that inhibition of LRRK2 kinase activity is a promising therapeutic strategy. While preclinical studies in model organisms have raised some on-target toxicity concerns<sup>5-8</sup>, the biological consequences of LRRK2 inhibition have not been well characterized in humans. Here, we systematically analyze pLoF variants in LRRK2 observed across 141,456 individuals sequenced in the Genome Aggregation Database (gnomAD)<sup>9</sup>, 49,960 exome-sequenced individuals from the UK Biobank and over 4 million participants in the 23andMe genotyped dataset. After stringent variant curation, we identify 1,455 individuals with high-confidence pLoF variants in LRRK2. Experimental validation of three variants, combined with previous work<sup>10</sup>, confirmed reduced protein levels in 82.5% of our cohort. We show that heterozygous pLoF variants in LRRK2 reduce LRRK2 protein levels but that these are not strongly associated with any specific phenotype or disease state. Our results demonstrate the value of large-scale genomic databases and phenotyping of human loss-of-function carriers for target validation in drug discovery.","journal":"Nature Medicine","year":2020,"id":509,"datarank":0.6995158641168101,"base_score":4.663439094112067,"endowment":4.663439094112067,"self_citation_contribution":0.6995158641168101,"citation_network_contribution":0.0,"self_endowment_contribution":0.6995158641168101,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":105,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.0427,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2020-05-27","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1001,"name":"Irina M. Armean","orcid":"0000-0002-1043-4756","position":1,"is_corresponding":false},{"id":193,"name":"Aaron Kleinman","orcid":null,"position":2,"is_corresponding":false},{"id":2279,"name":"Jamie L. Marshall","orcid":"0000-0002-2364-391X","position":3,"is_corresponding":false},{"id":5010,"name":"Eric V. Minikel","orcid":null,"position":4,"is_corresponding":false},{"id":5011,"name":"Julia K. Goodrich","orcid":"0000-0003-0480-1924","position":5,"is_corresponding":false},{"id":5012,"name":"Nicholas M. Quaife","orcid":"0000-0003-2755-2086","position":6,"is_corresponding":false},{"id":5013,"name":"Joanne B. Cole","orcid":"0000-0001-9520-2788","position":7,"is_corresponding":false},{"id":969,"name":"Qingbo S. Wang","orcid":"0000-0002-9110-5830","position":8,"is_corresponding":false},{"id":47,"name":"Konrad J. Karczewski","orcid":"0000-0003-2878-4671","position":9,"is_corresponding":false},{"id":967,"name":"Beryl B. Cummings","orcid":"0000-0001-6346-1646","position":10,"is_corresponding":false},{"id":965,"name":"Laurent C. Francioli","orcid":"0000-0002-3039-8895","position":11,"is_corresponding":false},{"id":5015,"name":"Anna Guan","orcid":null,"position":13,"is_corresponding":false},{"id":184,"name":"Babak Alipanahi","orcid":"0000-0001-8216-7178","position":14,"is_corresponding":false},{"id":5016,"name":"Peter Morrison","orcid":null,"position":15,"is_corresponding":false},{"id":5017,"name":"Marco A. S. Baptista","orcid":"0000-0002-5915-4894","position":16,"is_corresponding":false},{"id":62020,"name":"Iain Mathieson","orcid":"0000-0002-4256-3982","position":20,"is_corresponding":false},{"id":1002,"name":"Louis Bergelson","orcid":null,"position":21,"is_corresponding":false},{"id":1003,"name":"Kristian Cibulskis","orcid":"0000-0003-1343-1582","position":22,"is_corresponding":false},{"id":970,"name":"Ryan L. Collins","orcid":"0000-0003-1268-9995","position":23,"is_corresponding":false},{"id":1004,"name":"Kristen M. Connolly","orcid":null,"position":24,"is_corresponding":false},{"id":1005,"name":"Miguel Covarrubias","orcid":null,"position":25,"is_corresponding":false},{"id":5020,"name":"Beryl Cummings","orcid":null,"position":26,"is_corresponding":false},{"id":24722,"name":"Coleen Damcott","orcid":"0000-0001-6233-7395","position":27,"is_corresponding":false},{"id":1006,"name":"Stacey Donnelly","orcid":"0000-0001-5732-3300","position":28,"is_corresponding":false},{"id":985,"name":"Yossi Farjoun","orcid":"0000-0002-7002-2868","position":29,"is_corresponding":false},{"id":1007,"name":"Steven Ferriera","orcid":null,"position":30,"is_corresponding":false},{"id":27305,"name":"Anthony Philippakis","orcid":"0000-0001-6953-3794","position":31,"is_corresponding":false},{"id":974,"name":"Laura D. Gauthier","orcid":null,"position":32,"is_corresponding":false},{"id":1009,"name":"Jeff Gentry","orcid":null,"position":33,"is_corresponding":false},{"id":1010,"name":"Namrata Gupta","orcid":"0000-0001-6786-4995","position":34,"is_corresponding":false},{"id":1011,"name":"Thibault Jeandet","orcid":null,"position":35,"is_corresponding":false},{"id":1012,"name":"Diane Kaplan","orcid":null,"position":36,"is_corresponding":false},{"id":971,"name":"Kristen M. Laricchia","orcid":"0000-0002-0733-8341","position":37,"is_corresponding":false},{"id":1013,"name":"Christopher Llanwarne","orcid":null,"position":38,"is_corresponding":false},{"id":1015,"name":"Sam Novod","orcid":null,"position":41,"is_corresponding":false},{"id":995,"name":"Anne H. O’Donnell-Luria","orcid":"0000-0001-6418-9592","position":42,"is_corresponding":false},{"id":1016,"name":"Nikelle Petrillo","orcid":null,"position":43,"is_corresponding":false},{"id":987,"name":"Timothy Poterba","orcid":"0000-0003-1287-3434","position":44,"is_corresponding":false},{"id":1017,"name":"David Roazen","orcid":null,"position":45,"is_corresponding":false},{"id":14828,"name":"Manuel A. Rivas","orcid":"0000-0003-1457-9925","position":46,"is_corresponding":false},{"id":1019,"name":"Andrea Saltzman","orcid":"0000-0002-0335-9196","position":47,"is_corresponding":false},{"id":992,"name":"Kaitlin E. Samocha","orcid":"0000-0002-1704-3352","position":48,"is_corresponding":false},{"id":1020,"name":"Molly Schleicher","orcid":null,"position":49,"is_corresponding":false},{"id":989,"name":"Cotton Seed","orcid":null,"position":50,"is_corresponding":false},{"id":976,"name":"Matthew Solomonson","orcid":"0000-0002-5344-9026","position":51,"is_corresponding":false},{"id":1021,"name":"Jose Soto","orcid":null,"position":52,"is_corresponding":false},{"id":966,"name":"Grace Tiao","orcid":"0000-0001-9864-8275","position":53,"is_corresponding":false},{"id":1022,"name":"Kathleen Tibbetts","orcid":null,"position":54,"is_corresponding":false},{"id":1023,"name":"Charlotte Tolonen","orcid":null,"position":55,"is_corresponding":false},{"id":1000,"name":"Christopher Vittal","orcid":null,"position":56,"is_corresponding":false},{"id":1024,"name":"Gordon Wade","orcid":null,"position":57,"is_corresponding":false},{"id":988,"name":"Arcturus Wang","orcid":null,"position":58,"is_corresponding":false},{"id":977,"name":"Nicholas A. Watts","orcid":null,"position":59,"is_corresponding":false},{"id":997,"name":"Ben Weisburd","orcid":"0000-0001-9898-9109","position":60,"is_corresponding":false},{"id":1026,"name":"Genome Aggregation Database Consortium","orcid":null,"position":61,"is_corresponding":false},{"id":5021,"name":"Carlos A. Aguilar-Salinas","orcid":null,"position":62,"is_corresponding":false},{"id":1029,"name":"Christine M. Albert","orcid":"0000-0002-2081-1121","position":64,"is_corresponding":false},{"id":1030,"name":"Diego Ardissino","orcid":"0000-0003-0410-3528","position":65,"is_corresponding":false},{"id":1031,"name":"Gil Atzmon","orcid":"0000-0001-6895-3607","position":66,"is_corresponding":false},{"id":1032,"name":"John Barnard","orcid":"0000-0003-2403-8268","position":67,"is_corresponding":false},{"id":1034,"name":"Emelia J. Benjamin","orcid":"0000-0003-4076-2336","position":69,"is_corresponding":false},{"id":1035,"name":"Michael Boehnke","orcid":"0000-0002-6442-7754","position":70,"is_corresponding":false},{"id":7147,"name":"Themistocles L. Assimes","orcid":"0000-0003-2349-0009","position":71,"is_corresponding":false},{"id":1037,"name":"Erwin P. Bottinger","orcid":null,"position":72,"is_corresponding":false},{"id":1038,"name":"Donald W. Bowden","orcid":"0000-0003-4861-8005","position":73,"is_corresponding":false},{"id":1039,"name":"Matthew J. Bown","orcid":"0000-0002-6180-3611","position":74,"is_corresponding":false},{"id":24714,"name":"Lee-Ming Chuang","orcid":null,"position":78,"is_corresponding":false},{"id":1044,"name":"Mina K. Chung","orcid":"0000-0002-7835-6045","position":79,"is_corresponding":false},{"id":1045,"name":"Bruce Cohen","orcid":null,"position":80,"is_corresponding":false},{"id":1046,"name":"Adolfo Correa","orcid":"0000-0002-9501-600X","position":81,"is_corresponding":false},{"id":5363,"name":"Anders D. Børglum","orcid":"0000-0001-8627-7219","position":82,"is_corresponding":false},{"id":1049,"name":"Dawood Darbar","orcid":"0000-0002-4103-5977","position":83,"is_corresponding":false},{"id":1050,"name":"Ravindranath Duggirala","orcid":"0000-0003-4761-597X","position":84,"is_corresponding":false},{"id":1051,"name":"Josée Dupuis","orcid":"0000-0003-2871-3603","position":85,"is_corresponding":false},{"id":896,"name":"Patrick T. Ellinor","orcid":"0000-0002-2067-0533","position":86,"is_corresponding":false},{"id":21866,"name":"John Danesh","orcid":"0000-0003-1158-6791","position":87,"is_corresponding":false},{"id":5328,"name":"Katharina Domschke","orcid":"0000-0002-2550-9132","position":88,"is_corresponding":false},{"id":1055,"name":"Martti Färkkilä","orcid":null,"position":89,"is_corresponding":false},{"id":95063,"name":"Simon J. Foote","orcid":"0000-0002-9142-2107","position":90,"is_corresponding":false},{"id":29295,"name":"Ellen Todres","orcid":"0000-0001-9289-4432","position":91,"is_corresponding":false},{"id":1058,"name":"Gad Getz","orcid":"0000-0002-0936-0753","position":92,"is_corresponding":false},{"id":1059,"name":"Benjamin Glaser","orcid":null,"position":93,"is_corresponding":false},{"id":1060,"name":"Stephen J. Glatt","orcid":"0000-0002-0360-7567","position":94,"is_corresponding":false},{"id":1061,"name":"David Goldstein","orcid":null,"position":95,"is_corresponding":false},{"id":1062,"name":"Clicerio Gonzalez","orcid":null,"position":96,"is_corresponding":false},{"id":1063,"name":"Leif Groop","orcid":"0000-0002-0187-3263","position":97,"is_corresponding":false},{"id":1064,"name":"Craig Hanis","orcid":null,"position":99,"is_corresponding":false},{"id":1065,"name":"Matthew Harms","orcid":"0000-0002-3395-1633","position":100,"is_corresponding":false},{"id":1066,"name":"Mikko Hiltunen","orcid":"0000-0003-3566-4096","position":101,"is_corresponding":false},{"id":1068,"name":"Christina M. Hultman","orcid":"0000-0002-0327-2410","position":103,"is_corresponding":false},{"id":1070,"name":"Jaakko Kaprio","orcid":"0000-0002-3716-2455","position":105,"is_corresponding":false},{"id":1071,"name":"Sekar Kathiresan","orcid":"0000-0002-6724-032X","position":106,"is_corresponding":false},{"id":1072,"name":"Bong-Jo Kim","orcid":null,"position":107,"is_corresponding":false},{"id":5333,"name":"Kenneth S. Kendler","orcid":"0000-0001-8689-6570","position":108,"is_corresponding":false},{"id":21900,"name":"Manfred Kayser","orcid":"0000-0002-4958-847X","position":109,"is_corresponding":false},{"id":21902,"name":"Sirkka M Keinanen-Kiukaanniemi","orcid":null,"position":110,"is_corresponding":false},{"id":1076,"name":"Seppo Koskinen","orcid":"0000-0003-1572-1735","position":111,"is_corresponding":false},{"id":1077,"name":"Harlan M. Krumholz","orcid":"0000-0003-2046-127X","position":112,"is_corresponding":false},{"id":1078,"name":"Subra Kugathasan","orcid":"0000-0002-8686-4189","position":113,"is_corresponding":false},{"id":21963,"name":"J. Wouter Jukema","orcid":"0000-0002-3246-8359","position":114,"is_corresponding":false},{"id":21907,"name":"Johanna Kuusisto","orcid":"0000-0001-6550-3176","position":115,"is_corresponding":false},{"id":1081,"name":"Terho Lehtimäki","orcid":"0000-0002-2555-4427","position":116,"is_corresponding":false},{"id":1082,"name":"Ruth J. F. Loos","orcid":"0000-0002-8532-5087","position":117,"is_corresponding":false},{"id":1083,"name":"Steven A. Lubitz","orcid":"0000-0002-9599-4866","position":118,"is_corresponding":false},{"id":52736,"name":"Stuart A. Cook","orcid":"0000-0001-6628-194X","position":119,"is_corresponding":false},{"id":1085,"name":"Daniel G. MacArthur","orcid":"0000-0002-5771-2290","position":120,"is_corresponding":false},{"id":1086,"name":"Jaume Marrugat","orcid":"0000-0003-3320-554X","position":121,"is_corresponding":false},{"id":21998,"name":"Jacques S Beckmann","orcid":null,"position":123,"is_corresponding":false},{"id":1089,"name":"Mark I. McCarthy","orcid":"0000-0002-4393-0510","position":124,"is_corresponding":false},{"id":1090,"name":"Dermot McGovern","orcid":"0000-0001-5621-759X","position":125,"is_corresponding":false},{"id":1091,"name":"Ruth McPherson","orcid":"0000-0002-9087-6107","position":126,"is_corresponding":false},{"id":1092,"name":"James B. Meigs","orcid":"0000-0002-2439-2657","position":127,"is_corresponding":false},{"id":14700,"name":"Matthew B. McQueen","orcid":"0000-0002-7035-6112","position":128,"is_corresponding":false},{"id":1097,"name":"Michael C. O’Donovan","orcid":null,"position":131,"is_corresponding":false},{"id":1098,"name":"Dost Ongur","orcid":null,"position":132,"is_corresponding":false},{"id":1099,"name":"Lorena Orozco","orcid":"0000-0002-5801-9180","position":133,"is_corresponding":false},{"id":1100,"name":"Michael J. Owen","orcid":"0000-0003-4798-0862","position":134,"is_corresponding":false},{"id":1102,"name":"Aarno Palotie","orcid":"0000-0002-2527-5874","position":136,"is_corresponding":false},{"id":1103,"name":"Kyong Soo Park","orcid":"0000-0003-3597-342X","position":137,"is_corresponding":false},{"id":1104,"name":"Carlos Pato","orcid":null,"position":138,"is_corresponding":false},{"id":1105,"name":"Ann E. Pulver","orcid":"0000-0002-5929-9161","position":139,"is_corresponding":false},{"id":1106,"name":"Nazneen Rahman","orcid":"0000-0003-4376-0440","position":140,"is_corresponding":false},{"id":95112,"name":"Richard Reynolds","orcid":"0000-0003-4622-4694","position":141,"is_corresponding":false},{"id":1109,"name":"Samuli Ripatti","orcid":"0000-0002-0504-1202","position":143,"is_corresponding":false},{"id":1110,"name":"Dan M. Roden","orcid":"0000-0002-6302-0389","position":144,"is_corresponding":false},{"id":3816,"name":"Douglas M. Ruderfer","orcid":"0000-0002-2365-386X","position":145,"is_corresponding":false},{"id":1112,"name":"Veikko Salomaa","orcid":"0000-0001-7563-5324","position":146,"is_corresponding":false},{"id":1113,"name":"Nilesh J. Samani","orcid":"0000-0002-3286-8133","position":147,"is_corresponding":false},{"id":21821,"name":"Serena Sanna","orcid":"0000-0002-3768-1749","position":148,"is_corresponding":false},{"id":1115,"name":"Heribert Schunkert","orcid":"0000-0001-6428-3001","position":149,"is_corresponding":false},{"id":1118,"name":"Hilkka Soininen","orcid":"0000-0002-2785-9937","position":152,"is_corresponding":false},{"id":1119,"name":"Harry Sokol","orcid":"0000-0002-2914-1822","position":153,"is_corresponding":false},{"id":213,"name":"Patrick F. Sullivan","orcid":"0000-0002-6619-873X","position":155,"is_corresponding":false},{"id":1121,"name":"Jaana Suvisaari","orcid":"0000-0001-7167-0990","position":156,"is_corresponding":false},{"id":1122,"name":"E. Shyong Tai","orcid":"0000-0003-2929-8966","position":157,"is_corresponding":false},{"id":21983,"name":"Harold Snieder","orcid":"0000-0003-1949-2298","position":158,"is_corresponding":false},{"id":1124,"name":"Tuomi Tiinamaija","orcid":null,"position":159,"is_corresponding":false},{"id":1125,"name":"Ming Tsuang","orcid":null,"position":160,"is_corresponding":false},{"id":1126,"name":"Dan Turner","orcid":"0000-0002-3704-3325","position":161,"is_corresponding":false},{"id":1127,"name":"Teresa Tusie-Luna","orcid":null,"position":162,"is_corresponding":false},{"id":1128,"name":"Erkki Vartiainen","orcid":"0000-0001-7498-4389","position":163,"is_corresponding":false},{"id":1129,"name":"Marquis P. Vawter","orcid":"0000-0002-7987-6309","position":164,"is_corresponding":false},{"id":1130,"name":"Hugh Watkins","orcid":"0000-0002-5287-9016","position":166,"is_corresponding":false},{"id":1131,"name":"Rinse K. Weersma","orcid":"0000-0001-7928-7371","position":167,"is_corresponding":false},{"id":63161,"name":"Hugh C. Watkins","orcid":null,"position":168,"is_corresponding":false},{"id":1133,"name":"James G. Wilson","orcid":"0009-0002-0283-2970","position":169,"is_corresponding":false},{"id":5342,"name":"Preben Bo Mortensen","orcid":"0000-0002-5230-9865","position":170,"is_corresponding":false},{"id":5023,"name":"Aki S. Havulinna","orcid":"0000-0002-4787-8959","position":172,"is_corresponding":false},{"id":5024,"name":"Bozenna Iliadou","orcid":null,"position":173,"is_corresponding":false},{"id":5025,"name":"Jung-Jin Lee","orcid":null,"position":174,"is_corresponding":false},{"id":5026,"name":"Girish N. Nadkarni","orcid":"0000-0001-6319-4314","position":175,"is_corresponding":false},{"id":74673,"name":"GWAS and Sequencing Consortium of Alcohol and Nicotine Use (GSCAN)","orcid":null,"position":177,"is_corresponding":false},{"id":183,"name":"Michelle Agee","orcid":null,"position":178,"is_corresponding":false},{"id":51085,"name":"Joanna M. M. Howson","orcid":"0000-0001-7618-0050","position":179,"is_corresponding":false},{"id":186,"name":"Robert K. Bell","orcid":null,"position":180,"is_corresponding":false},{"id":187,"name":"Katarzyna Bryc","orcid":"0009-0006-7659-1056","position":181,"is_corresponding":false},{"id":188,"name":"Sarah L. Elson","orcid":"0000-0002-3211-3750","position":182,"is_corresponding":false},{"id":189,"name":"Pierre Fontanillas","orcid":"0000-0002-8944-4454","position":183,"is_corresponding":false},{"id":190,"name":"Nicholas A. Furlotte","orcid":"0000-0002-9096-6276","position":184,"is_corresponding":false},{"id":5028,"name":"Barry Hicks","orcid":null,"position":185,"is_corresponding":false},{"id":21895,"name":"Kevin B. Jacobs","orcid":"0000-0002-4657-6473","position":186,"is_corresponding":false},{"id":192,"name":"Karen E. Huber","orcid":null,"position":187,"is_corresponding":false},{"id":5029,"name":"Ethan M. Jewett","orcid":"0000-0002-4857-5431","position":188,"is_corresponding":false},{"id":5030,"name":"Yunxuan Jiang","orcid":"0000-0001-8690-4008","position":189,"is_corresponding":false},{"id":5031,"name":"Keng-Han Lin","orcid":null,"position":190,"is_corresponding":false},{"id":194,"name":"Nadia K. Litterman","orcid":"0000-0002-2734-8010","position":191,"is_corresponding":false},{"id":196,"name":"Matthew H. McIntyre","orcid":null,"position":192,"is_corresponding":false},{"id":5032,"name":"Kimberly F. McManus","orcid":"0000-0002-3970-8204","position":193,"is_corresponding":false},{"id":197,"name":"Joanna L. Mountain","orcid":"0000-0002-5984-5521","position":194,"is_corresponding":false},{"id":198,"name":"Elizabeth S. Noblin","orcid":null,"position":195,"is_corresponding":false},{"id":29156,"name":"Pamela Sankar","orcid":"0000-0002-7780-9655","position":196,"is_corresponding":false},{"id":202,"name":"Olga V. Sazonova","orcid":"0000-0002-4130-492X","position":197,"is_corresponding":false},{"id":5033,"name":"G. David Poznik","orcid":"0000-0003-4427-3556","position":198,"is_corresponding":false},{"id":201,"name":"J. Fah Sathirapongsasuti","orcid":"0000-0002-8157-3665","position":199,"is_corresponding":false},{"id":203,"name":"Janie F. Shelton","orcid":null,"position":200,"is_corresponding":false},{"id":204,"name":"Suyash Shringarpure","orcid":"0000-0001-6464-2668","position":201,"is_corresponding":false},{"id":205,"name":"Chao Tian","orcid":"0000-0001-7605-7175","position":202,"is_corresponding":false},{"id":206,"name":"Joyce Y. Tung","orcid":"0000-0001-9267-208X","position":203,"is_corresponding":false},{"id":207,"name":"Vladimir Vacic","orcid":"0000-0001-6571-2293","position":204,"is_corresponding":false},{"id":4138,"name":"Xin Wang","orcid":"0000-0003-1142-3562","position":205,"is_corresponding":false},{"id":208,"name":"Catherine H. Wilson","orcid":"0000-0002-5333-0295","position":206,"is_corresponding":false},{"id":1148,"name":"Tōnu Esko","orcid":"0000-0003-1982-6569","position":208,"is_corresponding":false},{"id":5036,"name":"Lili Milani","orcid":"0000-0002-5323-3102","position":211,"is_corresponding":false},{"id":968,"name":"Jessica Alföldi","orcid":"0000-0001-9713-6200","position":217,"is_corresponding":false},{"id":5038,"name":"Paul Cannon","orcid":null,"position":218,"is_corresponding":false},{"id":996,"name":"Eric Vallabh Minikel","orcid":"0000-0003-2206-1608","position":220,"is_corresponding":false},{"id":1143,"name":"Juliana C.N. Chan","orcid":"0000-0003-1325-1194","position":221,"is_corresponding":false},{"id":1139,"name":"Valentín Ruano-Rubio","orcid":null,"position":223,"is_corresponding":false},{"id":1140,"name":"José Soto","orcid":"0000-0002-0317-6664","position":224,"is_corresponding":false},{"id":1141,"name":"Carlos A. Aguilar‐Salinas","orcid":"0000-0001-8517-0241","position":225,"is_corresponding":false},{"id":1142,"name":"Erwin P. Böttinger","orcid":"0000-0001-6868-6676","position":226,"is_corresponding":false},{"id":16114,"name":"Timothy M. Frayling","orcid":"0000-0001-8362-2603","position":227,"is_corresponding":false},{"id":18447,"name":"Sameer Chavan","orcid":"0000-0002-0220-0845","position":228,"is_corresponding":false},{"id":1146,"name":"Bruce M. Cohen","orcid":null,"position":229,"is_corresponding":false},{"id":1147,"name":"Roberto Elosúa","orcid":"0000-0001-8235-0095","position":230,"is_corresponding":false},{"id":1149,"name":"Martti Färkkilâ","orcid":"0000-0002-0250-8559","position":231,"is_corresponding":false},{"id":1150,"name":"José C. Florez","orcid":"0000-0002-1730-9325","position":232,"is_corresponding":false},{"id":1151,"name":"André Franke","orcid":"0000-0003-1530-5811","position":233,"is_corresponding":false},{"id":1152,"name":"Benjamin Gläser","orcid":"0000-0003-4711-5000","position":234,"is_corresponding":false},{"id":1153,"name":"Clicerio González","orcid":"0000-0003-2419-1086","position":235,"is_corresponding":false},{"id":731,"name":"Bogdan Paşaniuc","orcid":"0000-0002-0227-2056","position":236,"is_corresponding":false},{"id":5039,"name":"Matthew B. Harms","orcid":null,"position":237,"is_corresponding":false},{"id":1155,"name":"Matti Holi","orcid":"0000-0003-3568-7407","position":238,"is_corresponding":false},{"id":1156,"name":"Jaspal S. Kooner","orcid":"0000-0003-2086-4837","position":239,"is_corresponding":false},{"id":1157,"name":"Ronald C.W.","orcid":"0000-0002-1227-803X","position":240,"is_corresponding":false},{"id":1158,"name":"Steven A. McCarroll","orcid":"0000-0002-6954-8184","position":241,"is_corresponding":false},{"id":1159,"name":"Michael C O'Donovan","orcid":"0000-0001-7073-2379","position":242,"is_corresponding":false},{"id":1160,"name":"Döst Öngür","orcid":"0000-0001-8151-5759","position":243,"is_corresponding":false},{"id":1161,"name":"Carlos N. Pato","orcid":"0000-0002-5858-266X","position":244,"is_corresponding":false},{"id":1162,"name":"Jeremiah M. Scharf","orcid":"0000-0002-4742-5896","position":245,"is_corresponding":false},{"id":21985,"name":"Matti Uusitupa","orcid":"0000-0001-6052-2001","position":246,"is_corresponding":false},{"id":1165,"name":"Jaakko Tuomilehto","orcid":"0000-0002-8306-6202","position":247,"is_corresponding":false},{"id":21986,"name":"Pim van der Harst","orcid":"0000-0002-2713-686X","position":248,"is_corresponding":false},{"id":1167,"name":"Teresa Tusié‐Luna","orcid":null,"position":249,"is_corresponding":false},{"id":5040,"name":"Jung‐Jin Lee","orcid":"0000-0002-7381-5230","position":250,"is_corresponding":false},{"id":5041,"name":"Keng‐Han Lin","orcid":null,"position":251,"is_corresponding":false},{"id":5042,"name":"Michele T. Pato","orcid":"0000-0002-4589-7398","position":252,"is_corresponding":false},{"id":5043,"name":"Paul J. Cannon","orcid":"0000-0001-8721-1481","position":253,"is_corresponding":false},{"id":990,"name":"Nicola Whiffin","orcid":"0000-0003-1554-6594","position":0,"is_corresponding":true}],"reference_count":54,"raw_metadata":null,"created_at":"2026-03-01T18:20:47.508186Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}