go back to reference Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F, Abbs S, Adhya Z, Adlard J, Afzal M, Ahmed I, Ahmed M, Ahmed S, Aitman TJ, Alachkar H, Alamelu J, Alikhan R, Allen CE, Allen L, Allsup DJ, Alvi A, Ambegaonkar G, Anantharachagan A, Ancliff P, Anderson J, Antrobus R, Armstrong R, Arno G, Arumugakani G, Arya R, Ashford S, Astle WJ, Attwood A, Austin S, Aydinok Y, Ayub W, Babbs C, Bacchelli C, Baglin T, Bakchoul T, Bariana TK, Barratt J, Barwell J, Baski J, Bates RW, Batista J, Baxendale HE, Baynam G, Bennett DL, Bethune C, Bhatnagar N, Bibi S, Bierzynska A, Biss T, Bitner-Glindzicz MAK, Bleda M, Blesneac I, Boardman B, Boddana P, Bogaard HJ, Booth C, Boyce S, Bradley JR, Brady A, Breen G, Brennan P, Brewer C, Briley A, Brown M, Brown R, Browning MJ, Brownlie M, Bryson CJ, Buchan RJ, Buck J, Buckland MS, Bueser T, Diz CB, Burns SO, Burren OS, Calleja P, Carmichael J, Carr-White G, Carss KJ, Casey R, Chalmers E, Chambers J, Chambers J, Chan MMY, Chan MV, Chandra A, Cheng F, Chinn IK, Chinnery PF, Chitre M, Chong S, Christian MT, Church C, Clement EM, Brod NC, Clifford H, Clowes VE, Coghlan G, Colby E, Cole TRP, Collins JH, Collins PW, Condliffe R, Cook HT, Cook S, Cookson V, Cooper N, Corris PA, Creaser-Myers A, Crisp-Hihn A, Curry NS, Cutler AJ, Da Costa R, Danesino C, Daniels MJ, Darby D, Daugherty LC, Davies EG, Davies S, Davis J, de Bree GJ, Deacock S, Deegan PB, Deevi SVV, Dempster J, Dent T, Deshpande C, Devlin LA, Dewhurst EF, Dixit AK, Dixon PH, Doffinger R, Dolling H, Dormand N, Downes K, Drazyk AM, Drewe E, Duarte D, Dutt T, Edgar JDM, Edwards KE, Egner W, Ekani MN, El-Shanawany T, Elkhalifa S, Elston T, Emmerson I, Erber WN, Erwood M, Estiu MC, Evans DG, Evans G, Everington T, Eyries M, Farmery JHR, Favier R, Firth HV, Fitzpatrick MM, Fletcher D, Flinter FA, Fox JC, Frary AJ, French CE, Freson K, Frontini M, Furie B, Gale DP, Gall HJ, Gardham A, Gaspar HB, Gattens M, Ghali N, Ghataorhe PK, Ghio S, Ghofrani H-A, Ghurye R, Gibbs JSR, Gilbert RD, Gilmour KC, Girerd B, Girling JC, Gissen P, Gleadall NS, Goddard S, Gordins P, Gorman KM, Gosal D, Graf S, Grassi L, Greene D, Greenhalgh AJ, Greenhalgh L, Greinacher A, Gresele P, Griffiths PG, Griffiths S, Grigoriadou S, Grozeva D, Hackett SJ, Hadden RDM, Hadinnapola C, Hague R, Hague WM, Haimel M, Hall M, Halmagyi C, Hammerton T, Hanson HL, Harkness K, Harper AR, Harper L, Harris C, Harrison C, Hart D, Hassan A, Hayman G, Heemskerk JWM, Hegde S, Henderson A, Henderson RH, Hensiek A, Henskens YMC, Herwadkar A, Hodgson J, Hoffman J, Holden S, Holder M, Horvath R, Houlden H, Houweling AC, Howard LS, Hu F, Hudson G, Hughes S, Hughes S, Huis in ‘t Veld AE, Huissoon AP, Humbert M, Hurles ME, Hurst JA, Irvine V, Izatt L, James R, Jeevaratnam P, Johnson M, Johnson SA, Jolles S, Jolley JD, Jones B, Jones J, Bioresource PICftN, (2020) Whole-genome sequencing of a sporadic primary immunodeficiency cohort. Nature. https://doi.org/10.1038/s41586-020-2265-1CrossRefPubMedPubMedCentral
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F, Abbs S, Adhya Z, Adlard J, Afzal M, Ahmed I, Ahmed M, Ahmed S, Aitman TJ, Alachkar H, Alamelu J, Alikhan R, Allen CE, Allen L, Allsup DJ, Alvi A, Ambegaonkar G, Anantharachagan A, Ancliff P, Anderson J, Antrobus R, Armstrong R, Arno G, Arumugakani G, Arya R, Ashford S, Astle WJ, Attwood A, Austin S, Aydinok Y, Ayub W, Babbs C, Bacchelli C, Baglin T, Bakchoul T, Bariana TK, Barratt J, Barwell J, Baski J, Bates RW, Batista J, Baxendale HE, Baynam G, Bennett DL, Bethune C, Bhatnagar N, Bibi S, Bierzynska A, Biss T, Bitner-Glindzicz MAK, Bleda M, Blesneac I, Boardman B, Boddana P, Bogaard HJ, Booth C, Boyce S, Bradley JR, Brady A, Breen G, Brennan P, Brewer C, Briley A, Brown M, Brown R, Browning MJ, Brownlie M, Bryson CJ, Buchan RJ, Buck J, Buckland MS, Bueser T, Diz CB, Burns SO, Burren OS, Calleja P, Carmichael J, Carr-White G, Carss KJ, Casey R, Chalmers E, Chambers J, Chambers J, Chan MMY, Chan MV, Chandra A, Cheng F, Chinn IK, Chinnery PF, Chitre M, Chong S, Christian MT, Church C, Clement EM, Brod NC, Clifford H, Clowes VE, Coghlan G, Colby E, Cole TRP, Collins JH, Collins PW, Condliffe R, Cook HT, Cook S, Cookson V, Cooper N, Corris PA, Creaser-Myers A, Crisp-Hihn A, Curry NS, Cutler AJ, Da Costa R, Danesino C, Daniels MJ, Darby D, Daugherty LC, Davies EG, Davies S, Davis J, de Bree GJ, Deacock S, Deegan PB, Deevi SVV, Dempster J, Dent T, Deshpande C, Devlin LA, Dewhurst EF, Dixit AK, Dixon PH, Doffinger R, Dolling H, Dormand N, Downes K, Drazyk AM, Drewe E, Duarte D, Dutt T, Edgar JDM, Edwards KE, Egner W, Ekani MN, El-Shanawany T, Elkhalifa S, Elston T, Emmerson I, Erber WN, Erwood M, Estiu MC, Evans DG, Evans G, Everington T, Eyries M, Farmery JHR, Favier R, Firth HV, Fitzpatrick MM, Fletcher D, Flinter FA, Fox JC, Frary AJ, French CE, Freson K, Frontini M, Furie B, Gale DP, Gall HJ, Gardham A, Gaspar HB, Gattens M, Ghali N, Ghataorhe PK, Ghio S, Ghofrani H-A, Ghurye R, Gibbs JSR, Gilbert RD, Gilmour KC, Girerd B, Girling JC, Gissen P, Gleadall NS, Goddard S, Gordins P, Gorman KM, Gosal D, Graf S, Grassi L, Greene D, Greenhalgh AJ, Greenhalgh L, Greinacher A, Gresele P, Griffiths PG, Griffiths S, Grigoriadou S, Grozeva D, Hackett SJ, Hadden RDM, Hadinnapola C, Hague R, Hague WM, Haimel M, Hall M, Halmagyi C, Hammerton T, Hanson HL, Harkness K, Harper AR, Harper L, Harris C, Harrison C, Hart D, Hassan A, Hayman G, Heemskerk JWM, Hegde S, Henderson A, Henderson RH, Hensiek A, Henskens YMC, Herwadkar A, Hodgson J, Hoffman J, Holden S, Holder M, Horvath R, Houlden H, Houweling AC, Howard LS, Hu F, Hudson G, Hughes S, Hughes S, Huis in ‘t Veld AE, Huissoon AP, Humbert M, Hurles ME, Hurst JA, Irvine V, Izatt L, James R, Jeevaratnam P, Johnson M, Johnson SA, Jolles S, Jolley JD, Jones B, Jones J, Bioresource PICftN, (2020) Whole-genome sequencing of a sporadic primary immunodeficiency cohort. Nature.
https://doi.org/10.1038/s41586-020-2265-1CrossRefPubMedPubMedCentral