Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing

Genome Biology

Volumn 18, Issue 1, 2017, Pages

  Jansen, Iris E ^a,b,ad   Ye, Hui ^c   Heetveld, Sasja ^a   Lechler, Marie C ^a,d   Michels, Helen ^e   Seinstra, Renée I ^e   Lubbe, Steven J ^f,g   Drouet, Valérie ^h   Lesage, Suzanne ^h   Majounie, Elisa ^i,j   Gibbs, J Raphael ^j   Nalls, Mike A ^j   Ryten, Mina ^f,k   Botia, Juan A ^f   Vandrovcova, Jana ^f   Simon Sanchez, Javier ^a,l   Castillo Lizardo, Melissa ^a   Rizzu, Patrizia ^a,ab   Blauwendraat, Cornelis ^a   Chouhan, Amit K ^c   Li, Yarong ^c   Yogi, Puja ^c   Amin, Najaf ^m   van Duijn, Cornelia M ^m   Morris, Huw R ^f,ay,az   Brice, Alexis ^h,n   Singleton, Andrew B ^j   David, Della C ^a   Nollen, Ellen A ^e   Jain, Shushant ^a   Shulman, Joshua M ^c,o   Heutink, Peter ^a,b,l,ab   Hernandez, Dena G ^j   Arepalli, Sampath ^j   Brooks, Janet ^j   Price, Ryan ^j   Nicolas, Aude ^j   Chong, Sean ^j   Cookson, Mark R ^j   Dillman, Allissa ^j   Moore, Matthew ^j   Traynor, Bryan J ^j   Plagnol, Vincent ^p   Nicholas W Wood, ^p   Sheerin, Una Marie ^f   Jose M Bras, ^f   Charlesworth, Gavin ^f   Gardner, Michelle ^f   Guerreiro, Rita ^f   Trabzuni, Daniah ^f   Hardy, John ^f   Sharma, Manu ^l   Saad, Mohamad ^q,r   Javier Simon Sanchez ^l   Schulte, Claudia ^l   Corvol, Jean Christophe ^h   Dürr, Alexandra ^h   Vidailhet, Marie ^h   Sveinbjörnsdóttir, Sigurlaug ^s,t,u   Barker, Roger ^v   Caroline H Williams Gray, ^v   Ben Shlomo, Yoav ^w   Berendse, Henk W ^b   van Dijk, Karin D ^b   Berg, Daniela ^a   Brockmann, Kathrin ^a   Wurster, Isabel ^a   Mätzler, Walter ^a   Gasser, Thomas ^a   Martinez, Maria ^f   de Bie, Rob M A ^v   Biffi, Alessandro ^y,z   Velseboer, Daan ^aa   Bloem, Bas ^b   Post, Bart ^b   Wickremaratchi, Mirdhu ^b   van de Warrenburg, Bart ^b   Bochdanovits, Zoltan ^ab   Bonin, Michael ^ac   Pétursson, Hjörvar ^ac   Riess, Olaf ^ac   Burn, David J ^f   Lubbe, Steven ^b   Cooper, J Mark ^b   McNeill, Alisdair ^b   Schapira, Anthony ^b   Lungu, Codrin ^ae   Chen, Honglei ^af   Dong, Jing ^af   Chinnery, Patrick F ^ag   Hudson, Gavin ^ag   Clarke, Carl E ^ah,ai   Moorby, Catriona ^ah   Counsell, Carl ^aj   Damier, Philippe ^q   Dartigues, Jean François ^ak   Deloukas, Panos ^al   Gray, Emma ^al   Edkins, Sarah ^al   Hunt, Sarah E ^al   Potter, Simon ^al   Tashakkori Ghanbaria, Avazeh ^al   Deuschl, Günther ^am   Lorenz, Delia ^am   Dexter, David T ^an   Durif, Frank ^ao   Evans, Jonathan R ^f   Langford, Cordelia ^f   Foltynie, Thomas ^ap   Goate, Alison ^ai   Harris, Clare ^aq   van Hilten, Jacobus J ^m   Hofman, Albert ^ar   Hollenbeck, Albert ^f   Holton, Janice ^as   Hu, Michele ^at   Huang, Xuemei ^au   Illig, Thomas ^s   Jónsson, Pálmi V ^q   Lambert, Jean Charles ^av,aw   O'Sullivan, Sean S ^au   Revesz, Tamas ^au   Shaw, Karen ^au   Lees, Andrew ^au   Lichtner, Peter ^f   Limousin, Patricia ^ad   Lopez, Grisel ^ax   Escott Price, Valentina ^ax   Pearson, Justin ^ax   Williams, Nigel ^ax   Mudanohwo, Ese ^ba   Perlmutter, Joel S ^bb   Pollak, Pierre ^m,bc   Rivadeneira, Fernando ^bd   Uitterlinden, André G ^bd   Sawcer, Stephen ^aa   Scheffer, Hans ^be   Shoulson, Ira ^c   Shulman, Joshua ^bf   Smith, Colin ^bg   Walker, Robert ^bg   Spencer, Chris C A ^bh   Strange, Amy ^bh   Stefánsson, Hreinn ^bi   Bettella, Francesco ^bi   Stefánsson, Kári ^bi   Stockton, Joanna D ^bj   Talbot, Kevin ^bk   Tanner, Carlie M ^bl   Tison, François ^i,bl   Winder Rhodes, Sophie ^y   Bhatia, Kailash ^x   more..

^a GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d UNIVERSITY OF TÜBINGEN   (Germany)

^e UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

^g NORTHWESTERN UNIVERSITY   (United States)

^h SORBONNE UNIVERSITÉ   (France)

ⁱ CARDIFF UNIVERSITY   (United Kingdom)

^j NATIONAL INSTITUTE ON AGING   (United States)

^k KING'S COLLEGE LONDON   (United Kingdom)

^l UNIVERSITY OF TÜBINGEN   (Germany)

^m ERASMUS MEDICAL CENTER   (Netherlands)

ⁿ PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^o TEXAS CHILDREN S HOSPITAL   (United States)

^p UNIVERSITY COLLEGE LONDON   (United Kingdom)

^q INSERM   (France)

^r UNIVERSITÉ PAUL SABATIER   (France)

^s LANDSPITALI UNIVERSITY HOSPITAL   (Iceland)

^t BROOMFIELD HOSPITAL   (United Kingdom)

^u QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^v UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^w UNIVERSITY OF BRISTOL   (United Kingdom)

^x UNIVERSITY OF AMSTERDAM   (Netherlands)

^y MASSACHUSETTS GENERAL HOSPITAL   (United States)

^z BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^aa RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^ab UNIVERSITY OF TÜBINGEN   (Germany)

^ac NEWCASTLE UNIVERSITY   (United Kingdom)

^ad NATIONAL INSTITUTES OF HEALTH   (United States)

^ae NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES   (United States)

^af NEWCASTLE UNIVERSITY   (United Kingdom)

^ag UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^ah CITY HOSPITAL   (United Kingdom)

^ai UNIVERSITY OF ABERDEEN   (United Kingdom)

^aj NANTES UNIVERSITY HOSPITAL   (France)

^ak WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^al UNIVERSITY OF KIEL   (Germany)

^am IMPERIAL COLLEGE LONDON   (United Kingdom)

^an SERVICE DE RHUMATOLOGIE   (France)

^ao UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^ap WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^aq LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^ar AARP   (United States)

^as JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^at PENN STATE MILTON S HERSHEY MEDICAL CENTER   (United States)

^au INSTITUTE OF EPIDEMIOLOGY   (Germany)

^av UNIV LILLE   (France)

^aw ChristianAlbrechts Universität Kiel ^*  (United Kingdom)

^ax NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^ay QUEEN ELIZABETH HOSPITAL   (United Kingdom)

^az CARDIFF UNIVERSITY SCHOOL OF MEDICINE   (United Kingdom)

^ba WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^bb GRENOBLE UNIVERSITY HOSPITAL   (France)

^bc BIOGEN   (United States)

^bd UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^be UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^bf UNIVERSITY OF EDINBURGH   (United Kingdom)

^bg UNIVERSITY OF OXFORD   (United Kingdom)

^bh DECODE GENETICS   (Iceland)

^bi School of Clinical and Experimental Medicine   (United Kingdom)

^bj UNIVERSITY OF OXFORD   (United Kingdom)

^bk PARKINSON S INSTITUTE   (United States)

^bl HAUT LÉVÊQUE HOSPITAL   (France)

more..

Author keywords

Animal model; Functional screening; Genomics; Loss of function; Mitochondria; Parkin; Parkinson's disease; Rare variants; Whole exome sequencing; synuclein

Indexed keywords

ALPHA SYNUCLEIN; RNA;

ADOLESCENT; ADULT; ALLELE; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARSB GENE; ARTICLE; CAENORHABDITIS ELEGANS; CHILD; CONTROLLED STUDY; DROSOPHILA; FEMALE; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENE REPLICATION; GENE SILENCING; GENETIC VARIABILITY; GPATCH2L GENE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MITOCHONDRIAL DYNAMICS; NERVE CELL CULTURE; NONHUMAN; PARKINSON DISEASE; PATHOGENESIS; PTPRH GENE; RNA INTERFERENCE; UHRF1BP1L GENE; VPS13C GENE; WHOLE EXOME SEQUENCING; ANIMAL; CASE CONTROL STUDY; CELL CULTURE; DISEASE MODEL; DNA SEQUENCE; DROSOPHILA MELANOGASTER; EXOME; GENETIC PREDISPOSITION; GENETICS; HIGH THROUGHPUT SEQUENCING; MIDDLE AGED; PROCEDURES; TRANSGENIC ANIMAL; YOUNG ADULT;

ADOLESCENT; ADULT; ALPHA-SYNUCLEIN; ANIMALS; ANIMALS, GENETICALLY MODIFIED; CAENORHABDITIS ELEGANS; CASE-CONTROL STUDIES; CELLS, CULTURED; CHILD; DISEASE MODELS, ANIMAL; DROSOPHILA MELANOGASTER; EXOME; GENETIC PREDISPOSITION TO DISEASE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MIDDLE AGED; PARKINSON DISEASE; RNA INTERFERENCE; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 85011019247     PISSN: 14747596     EISSN: 1474760X     Source Type: Journal    
DOI: 10.1186/s13059-017-1147-9     Document Type: Article

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