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Exploring the benefits, harms, and costs of genomic newborn screening for rare diseases by Baple, EL, Scott, RH, Banka, S, Buchanan, J, Fish, L, Wynn, S, Wilkinson, J, Ellard, S, MacArthur, DG, Stark, Z
Published 2024Journal article -
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A call to action to scale up research and clinical genomic data sharing by Stark, Z, Glazer, D, Hofmann, O, Rendon, A, Marshall, CR, Ginsburg, GS, Lunt, C, Effingham, M, Hastings Ward, J, Hill, SL, Ali, R, Goodhand, P, Page, A, Rehm, HL, North, KN, Allen, N, Scott, RH
Published 2024Journal article -
3
Evaluating the performance of a clinical genome sequencing programme for diagnosis of rare genetic disease, seen through the lens of craniosynostosis by Tooze, RS, Hyder, Z, Calpena, E, Pei, Y, Twigg, SRF, Cilliers, D, Morton, JEV, McCann, E, Weber, A, Wilson, LC, Need, A, Bond, A, Tavares, ALT, Brittain, H, Thomas, E, Hill, SL, Deans, ZC, Boardman-Pretty, F, Caulfield, M, Scott, RH, Wilkie, AOM
Published 2022Conference item -
4
Whole-genome sequencing reveals host factors underlying critical COVID-19 by Kousathanas, A, Pairo-Castineira, E, Rawlik, K, Stuckey, A, Odhams, CA, Walker, S, Russell, CD, Malinauskas, T, Wu, Y, Millar, J, Shen, X, Elliott, KS, Griffiths, F, Oosthuyzen, W, Morrice, K, Keating, S, Wang, B, Rhodes, D, Klaric, L, Zechner, M, Parkinson, N, Siddiq, A, Goddard, P, Donovan, S, Maslove, D, Nichol, A, Semple, MG, Zainy, T, Maleady-Crowe, F, Todd, L, Salehi, S, Knight, J, Elgar, G, Chan, G, Arumugam, P, Patch, C, Rendon, A, Bentley, D, Kingsley, C, Kosmicki, JA, Horowitz, JE, Baras, A, Abecasis, GR, Ferreira, MAR, Justice, A, Mirshahi, T, Oetjens, M, Rader, DJ, Ritchie, MD, Verma, A, Horby, P, Ling, L, McAuley, D, Montgomery, H, Openshaw, PJM, Elliott, P, Walsh, T, Tenesa, A, Fawkes, A, Murphy, L, Rowan, K, Ponting, CP, Vitart, V, Wilson, JF, Yang, J, Bretherick, AD, Scott, RH, Hendry, SC, Moutsianas, L, Law, A, Caulfield, MJ, Baillie, JK
Published 2022Journal article