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Recommendations for reporting results of diagnostic genomic testing.
Deans ZC, Ahn JW, Carreira IM, Dequeker E, Henderson M, Lovrecic L, Õunap K, Tabiner M, Treacy R, van Asperen CJ. Deans ZC, et al. Among authors: henderson m. Eur J Hum Genet. 2022 Sep;30(9):1011-1016. doi: 10.1038/s41431-022-01091-0. Epub 2022 Apr 1. Eur J Hum Genet. 2022. PMID: 35361922 Free PMC article.
Regulatory landscape of providing information on newborn screening to parents across Europe.
Franková V, Driscoll RO, Jansen ME, Loeber JG, Kožich V, Bonham J, Borde P, Brincat I, Cheillan D, Dekkers E, Fingerhut R, Kuš IB, Girginoudis P, Groselj U, Hougaard D, Knapková M, la Marca G, Malniece I, Nanu MI, Nennstiel U, Olkhovych N, Oltarzewski M, Pettersen RD, Racz G, Reinson K, Salimbayeva D, Songailiene J, Vilarinho L, Vogazianos M, Zetterström RH, Zeyda M; Members of the European Society of Human Genetics (ESHG)-EuroGentest Quality Sub-Committee. Franková V, et al. Eur J Hum Genet. 2021 Jan;29(1):67-78. doi: 10.1038/s41431-020-00716-6. Epub 2020 Oct 10. Eur J Hum Genet. 2021. PMID: 33040093 Free PMC article.
Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment.
Wu THY, Brown HA, Church HJ, Kershaw CJ, Hutton R, Egerton C, Cooper J, Tylee K, Cohen RN, Gokhale D, Ram D, Morton G, Henderson M, Bigger BW, Jones SA. Wu THY, et al. Among authors: henderson m. Mol Genet Metab. 2024 May;142(1):108349. doi: 10.1016/j.ymgme.2024.108349. Epub 2024 Feb 20. Mol Genet Metab. 2024. PMID: 38458124 Free article.
Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies.
Oerton J, Khalid JM, Besley G, Dalton RN, Downing M, Green A, Henderson M, Krywawych S, Leonard J, Andresen BS, Dezateux C. Oerton J, et al. Among authors: henderson m. J Med Screen. 2011;18(4):173-81. doi: 10.1258/jms.2011.011086. Epub 2011 Dec 13. J Med Screen. 2011. PMID: 22166308 Free PMC article.
Delayed diagnosis of phenylketonuria - a case report of two siblings.
Narayanan D, Barski R, Henderson MJ, Luvai A, Chandrajay D, Stainforth C, Bradley J, Rogozinski H, Sharma R. Narayanan D, et al. Ann Clin Biochem. 2014 May;51(Pt 3):406-8. doi: 10.1177/0004563213503818. Epub 2013 Oct 4. Ann Clin Biochem. 2014. PMID: 24097808
Ethnicity of children with homozygous c.985A>G medium-chain acyl-CoA dehydrogenase deficiency: findings from screening approximately 1.1 million newborn infants.
Khalid JM, Oerton J, Cortina-Borja M, Andresen BS, Besley G, Dalton RN, Downing M, Green A, Henderson M, Leonard J, Dezateux C; UK Collaborative Study of Newborn Screening for MCADD. Khalid JM, et al. Among authors: henderson m. J Med Screen. 2008;15(3):112-7. doi: 10.1258/jms.2008.008043. J Med Screen. 2008. PMID: 18927092
1,907 results