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Page 1
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
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 … See abstract for full author list ➔ 100,000 Genomes Project Pilot Investigators, et al. Among authors: broomfield a. N Engl J Med. 2021 Nov 11;385(20):1868-1880. doi: 10.1056/NEJMoa2035790. N Engl J Med. 2021. PMID: 34758253 Free PMC article.
How to use serum ammonia.
Broomfield A, Grunewald S. Broomfield A, et al. Arch Dis Child Educ Pract Ed. 2012 Apr;97(2):72-7; answer to quiz pg 80. doi: 10.1136/archdischild-2011-300194. Epub 2011 Nov 18. Arch Dis Child Educ Pract Ed. 2012. PMID: 22101094
Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy.
Broomfield A, Fletcher J, Davison J, Finnegan N, Fenton M, Chikermane A, Beesley C, Harvey K, Cullen E, Stewart C, Santra S, Vijay S, Champion M, Abulhoul L, Grunewald S, Chakrapani A, Cleary MA, Jones SA, Vellodi A. Broomfield A, et al. J Inherit Metab Dis. 2016 Mar;39(2):261-71. doi: 10.1007/s10545-015-9898-5. Epub 2015 Oct 26. J Inherit Metab Dis. 2016. PMID: 26497565
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.
Oláhová M, Hardy SA, Hall J, Yarham JW, Haack TB, Wilson WC, Alston CL, He L, Aznauryan E, Brown RM, Brown GK, Morris AA, Mundy H, Broomfield A, Barbosa IA, Simpson MA, Deshpande C, Moeslinger D, Koch J, Stettner GM, Bonnen PE, Prokisch H, Lightowlers RN, McFarland R, Chrzanowska-Lightowlers ZM, Taylor RW. Oláhová M, et al. Among authors: broomfield a. Brain. 2015 Dec;138(Pt 12):3503-19. doi: 10.1093/brain/awv291. Epub 2015 Oct 27. Brain. 2015. PMID: 26510951 Free PMC article.
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
Reid ES, Papandreou A, Drury S, Boustred C, Yue WW, Wedatilake Y, Beesley C, Jacques TS, Anderson G, Abulhoul L, Broomfield A, Cleary M, Grunewald S, Varadkar SM, Lench N, Rahman S, Gissen P, Clayton PT, Mills PB. Reid ES, et al. Among authors: broomfield a. Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221. Brain. 2016. PMID: 27604308 Free PMC article.
Expanding the phenotype in argininosuccinic aciduria: need for new therapies.
Baruteau J, Jameson E, Morris AA, Chakrapani A, Santra S, Vijay S, Kocadag H, Beesley CE, Grunewald S, Murphy E, Cleary M, Mundy H, Abulhoul L, Broomfield A, Lachmann R, Rahman Y, Robinson PH, MacPherson L, Foster K, Chong WK, Ridout DA, Bounford KM, Waddington SN, Mills PB, Gissen P, Davison JE. Baruteau J, et al. Among authors: broomfield a. J Inherit Metab Dis. 2017 May;40(3):357-368. doi: 10.1007/s10545-017-0022-x. Epub 2017 Mar 1. J Inherit Metab Dis. 2017. PMID: 28251416 Free PMC article.
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing.
Ghosh A, Schlecht H, Heptinstall LE, Bassett JK, Cartwright E, Bhaskar SS, Urquhart J, Broomfield A, Morris AA, Jameson E, Schwahn BC, Walter JH, Douzgou S, Murphy H, Hendriksz C, Sharma R, Wilcox G, Crushell E, Monavari AA, Martin R, Doolan A, Senniappan S, Ramsden SC, Jones SA, Banka S. Ghosh A, et al. Among authors: broomfield a. Arch Dis Child. 2017 Nov;102(11):1019-1029. doi: 10.1136/archdischild-2017-312738. Epub 2017 May 3. Arch Dis Child. 2017. PMID: 28468868
International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome.
Parini R, Broomfield A, Cleary MA, De Meirleir L, Di Rocco M, Fathalla WM, Guffon N, Lampe C, Lund AM, Scarpa M, Tylki-Szymańska A, Zeman J. Parini R, et al. Among authors: broomfield a. Acta Paediatr. 2018 Dec;107(12):2059-2065. doi: 10.1111/apa.14587. Epub 2018 Oct 23. Acta Paediatr. 2018. PMID: 30242902 Free PMC article. Review.
Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.
Alston CL, Veling MT, Heidler J, Taylor LS, Alaimo JT, Sung AY, He L, Hopton S, Broomfield A, Pavaine J, Diaz J, Leon E, Wolf P, McFarland R, Prokisch H, Wortmann SB, Bonnen PE, Wittig I, Pagliarini DJ, Taylor RW. Alston CL, et al. Among authors: broomfield a. Am J Hum Genet. 2020 Jan 2;106(1):92-101. doi: 10.1016/j.ajhg.2019.12.001. Epub 2019 Dec 19. Am J Hum Genet. 2020. PMID: 31866046 Free PMC article.
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