Time to make rare disease diagnosis accessible to all.
Time to make rare disease diagnosis accessible to all.
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DOI:
10.1038/s41591-021-01657-3
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发表时间:
2022-03
期刊:
影响因子:
82.9
通讯作者:
Rehm HL
中科院分区:
文献类型:
--
作者:
Rehm HL
Studies have demonstrated the utility of genomic analysis for rare disease diagnosis, yet accessibility is still in its infancy; global data sharing will be needed to further advance our knowledge of all causes of rare disease.
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影响因子:
13.8
作者:
Costain G;Walker S;Marano M;Veenma D;Snell M;Curtis M;Luca S;Buera J;Arje D;Reuter MS;Thiruvahindrapuram B;Trost B;Sung WWL;Yuen RKC;Chitayat D;Mendoza-Londono R;Stavropoulos DJ;Scherer SW;Marshall CR;Cohn RD;Cohen E;Orkin J;Meyn MS;Hayeems RZ
通讯作者:
Hayeems RZ
影响因子:
12.3
作者:
Stranneheim H;Lagerstedt-Robinson K;Magnusson M;Kvarnung M;Nilsson D;Lesko N;Engvall M;Anderlid BM;Arnell H;Johansson CB;Barbaro M;Björck E;Bruhn H;Eisfeldt J;Freyer C;Grigelioniene G;Gustavsson P;Hammarsjö A;Hellström-Pigg M;Iwarsson E;Jemt A;Laaksonen M;Enoksson SL;Malmgren H;Naess K;Nordenskjöld M;Oscarson M;Pettersson M;Rasi C;Rosenbaum A;Sahlin E;Sardh E;Stödberg T;Tesi B;Tham E;Thonberg H;Töhönen V;von Döbeln U;Vassiliou D;Vonlanthen S;Wikström AC;Wincent J;Winqvist O;Wredenberg A;Ygberg S;Zetterström RH;Marits P;Soller MJ;Nordgren A;Wirta V;Lindstrand A;Wedell A
通讯作者:
Wedell A
DOI:
10.1038/s41431-020-00713-9
发表时间:
2021-01
期刊:
European journal of human genetics : EJHG
影响因子:
--
作者:
Bertoli-Avella AM;Beetz C;Ameziane N;Rocha ME;Guatibonza P;Pereira C;Calvo M;Herrera-Ordonez N;Segura-Castel M;Diego-Alvarez D;Zawada M;Kandaswamy KK;Werber M;Paknia O;Zielske S;Ugrinovski D;Warnack G;Kampe K;Iurașcu MI;Cozma C;Vogel F;Alhashem A;Hertecant J;Al-Shamsi AM;Alswaid AF;Eyaid W;Al Mutairi F;Alfares A;Albalwi MA;Alfadhel M;Al-Sannaa NA;Reardon W;Alanay Y;Rolfs A;Bauer P
通讯作者:
Bauer P
影响因子:
8.8
作者:
Rehder, Catherine;Bean, Lora J. H.;Vincent, Lisa M.
通讯作者:
Vincent, Lisa M.
DOI:
10.1056/nejmoa2035790
发表时间:
2021-11-11
期刊:
The New England journal of medicine
影响因子:
--
作者:
100,000 Genomes Project Pilot Investigators;Smedley D;Smith KR;Martin A;Thomas EA;McDonagh EM;Cipriani V;Ellingford JM;Arno G;Tucci A;Vandrovcova J;Chan G;Williams HJ;Ratnaike T;Wei W;Stirrups K;Ibanez K;Moutsianas L;Wielscher M;Need A;Barnes MR;Vestito L;Buchanan J;Wordsworth S;Ashford S;Rehmström K;Li E;Fuller G;Twiss P;Spasic-Boskovic O;Halsall S;Floto RA;Poole K;Wagner A;Mehta SG;Gurnell M;Burrows N;James R;Penkett C;Dewhurst E;Gräf S;Mapeta R;Kasanicki M;Haworth A;Savage H;Babcock M;Reese MG;Bale M;Baple E;Boustred C;Brittain H;de Burca A;Bleda M;Devereau A;Halai D;Haraldsdottir E;Hyder Z;Kasperaviciute D;Patch C;Polychronopoulos D;Matchan A;Sultana R;Ryten M;Tavares ALT;Tregidgo C;Turnbull C;Welland M;Wood S;Snow C;Williams E;Leigh S;Foulger RE;Daugherty LC;Niblock O;Leong IUS;Wright CF;Davies J;Crichton C;Welch J;Woods K;Abulhoul L;Aurora P;Bockenhauer D;Broomfield A;Cleary MA;Lam T;Dattani M;Footitt E;Ganesan V;Grunewald S;Compeyrot-Lacassagne S;Muntoni F;Pilkington C;Quinlivan R;Thapar N;Wallis C;Wedderburn LR;Worth A;Bueser T;Compton C;Deshpande C;Fassihi H;Haque E;Izatt L;Josifova D;Mohammed S;Robert L;Rose S;Ruddy D;Sarkany R;Say G;Shaw AC;Wolejko A;Habib B;Burns G;Hunter S;Grocock RJ;Humphray SJ;Robinson PN;Haendel M;Simpson MA;Banka S;Clayton-Smith J;Douzgou S;Hall G;Thomas HB;O'Keefe RT;Michaelides M;Moore AT;Malka S;Pontikos N;Browning AC;Straub V;Gorman GS;Horvath R;Quinton R;Schaefer AM;Yu-Wai-Man P;Turnbull DM;McFarland R;Taylor RW;O'Connor E;Yip J;Newland K;Morris HR;Polke J;Wood NW;Campbell C;Camps C;Gibson K;Koelling N;Lester T;Németh AH;Palles C;Patel S;Roy NBA;Sen A;Taylor J;Cacheiro P;Jacobsen JO;Seaby EG;Davison V;Chitty L;Douglas A;Naresh K;McMullan D;Ellard S;Temple IK;Mumford AD;Wilson G;Beales P;Bitner-Glindzicz M;Black G;Bradley JR;Brennan P;Burn J;Chinnery PF;Elliott P;Flinter F;Houlden H;Irving M;Newman W;Rahman S;Sayer JA;Taylor JC;Webster AR;Wilkie AOM;Ouwehand WH;Raymond FL;Chisholm J;Hill S;Bentley D;Scott RH;Fowler T;Rendon A;Caulfield M
通讯作者:
Caulfield M