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Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing

Title: Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing
Authors: Macken, William L.Aff1, Aff2; Falabella, MicolAff1; McKittrick, CarolineAff1; Pizzamiglio, ChiaraAff1, Aff2; Ellmers, RebeccaAff3; Eggleton, KellyAff3; Woodward, Cathy E.Aff2, Aff3; Patel, YogenAff3; Labrum, RobynAff2, Aff3; Phadke, RahulAff4; Reilly, Mary M.Aff1; DeVile, CatherineAff5; Sarkozy, AnnaAff4; Footitt, EmmaAff6; Davison, JamesAff6, Aff7; Rahman, ShamimaAff6, Aff8; Houlden, HenryAff1; Bugiardini, EnricoAff1, Aff2; Quinlivan, RosalineAff1, Aff2, Aff4; Hanna, Michael G.Aff1, Aff2; Vandrovcova, JanaAff1, IDs41467022329087_cor22; Pitceathly, Robert D. S.Aff1, Aff2, IDs41467022329087_cor23; Ambrose, J. C.Aff9; Arumugam, P.Aff9; Bevers, R.Aff9; Bleda, M.Aff9; Boardman-Pretty, F.Aff9, Aff10; Boustred, C. R.Aff9; Brittain, H.Aff9; Brown, M. A.Aff9; Caulfield, M. J.Aff9, Aff10; Chan, G. C.Aff9; Giess, A.Aff9; Griffin, J. N.Aff9; Hamblin, A.Aff9; Henderson, S.Aff9, Aff10; Hubbard, T. J. P.Aff9; Jackson, R.Aff9; Jones, L. J.Aff9, Aff10; Kasperaviciute, D.Aff9, Aff10; Kayikci, M.Aff9; Kousathanas, A.Aff9; Lahnstein, L.Aff9; Lakey, A.Aff9; Leigh, S. E. A.Aff9; Leong, I. U. S.Aff9; Lopez, F. J.Aff9; Maleady-Crowe, F.Aff9; McEntagart, M.Aff9; Minneci, F.Aff9; Mitchell, J.Aff9; Moutsianas, L.Aff9, Aff10; Mueller, M.Aff9, Aff10; Murugaesu, N.Aff9; Need, A. C.Aff9, Aff10; O’Donovan, P.Aff9; Odhams, C. A.Aff9; Patch, C.Aff9, Aff10; Perez-Gil, D.Aff9; Pereira, M. B.Aff9; Pullinger, J.Aff9; Rahim, T.Aff9; Rendon, A.Aff9; Rogers, T.Aff9; Savage, K.Aff9; Sawant, K.Aff9; Scott, R. H.Aff9; Siddiq, A.Aff9; Sieghart, A.Aff9; Smith, S. C.Aff9; Sosinsky, A.Aff9, Aff10; Stuckey, A.Aff9; Tanguy, M.Aff9; Taylor Tavares, A. L.Aff9; Thomas, E. R. A.Aff9, Aff10; Thompson, S. R.Aff9; Tucci, A.Aff9, Aff10; Welland, M. J.Aff9; Williams, E.Aff9; Witkowska, K.Aff9, Aff10; Wood, S. M.Aff9, Aff10; Zarowiecki, M.Aff9
Source: Nature Communications. 13(1)
Database: Springer Nature Journals