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Improving Harmonization and Standardization of Expanded Newborn Screening Results by Optimization of the Legacy Flow Injection Analysis Tandem Mass Spectrometry Methods and Application of a Standardized Calibration Approach.
Carling RS, Whyte E, John C, Garstone R, Goddard P, Greenfield T, Hogg SL, Le Masurier C, Cowen S, Moat SJ, Hopley C. Carling RS, et al. Among authors: goddard p. Clin Chem. 2022 Jul 27;68(8):1075-1083. doi: 10.1093/clinchem/hvac070. Clin Chem. 2022. PMID: 35699503
Evaluation of a Common Internal Standard Material to Reduce Inter-Laboratory Variation and Ensure the Quality, Safety and Efficacy of Expanded Newborn Screening Results When Using Flow Injection Analysis Tandem Mass Spectrometry with Internal Calibration.
Carling RS, John C, Goddard P, Griffith C, Cowen S, Hopley C, Moat SJ. Carling RS, et al. Among authors: goddard p. Int J Neonatal Screen. 2020 Nov 19;6(4):92. doi: 10.3390/ijns6040092. Int J Neonatal Screen. 2020. PMID: 33228114 Free PMC article.
Cross-sectional audit assessing the quality of dried bloodspot specimens received by UK metabolic biochemistry laboratories for the biochemical monitoring of individuals with Phenylketonuria.
Hogg SL, Carling RS, Cantley NW, Hamilton G, Goddard P, Aitkenhead H, Barski R, Collingwood C, Moat SJ, Kemp HJ. Hogg SL, et al. Among authors: goddard p. Ann Clin Biochem. 2023 May;60(3):208-211. doi: 10.1177/00045632231156035. Epub 2023 Feb 10. Ann Clin Biochem. 2023. PMID: 36762708
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans.
Rael VE, Yano JA, Huizar JP, Slayden LC, Weiss MA, Turcotte EA, Terry JM, Zuo W, Thiffault I, Pastinen T, Farrow EG, Jenkins JL, Becker ML, Wong SC, Stevens AM, Otten C, Allenspach EJ, Bonner DE, Bernstein JA, Wheeler MT, Saxton RA; Undiagnosed Diseases Network; Liu B, Majer O, Barton GM. Rael VE, et al. J Exp Med. 2024 Aug 5;221(8):e20232005. doi: 10.1084/jem.20232005. Epub 2024 May 23. J Exp Med. 2024. PMID: 38780621 Free PMC article.
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
Kohler JN, Legro NR, Baldridge D, Shin J, Bowman A, Ugur B, Jackstadt MM, Shriver LP, Patti GJ, Zhang B, Feng W, McAdow AR, Goddard P, Ungar RA, Jensen T, Smith KS, Fresard L, Alvarez R, Bonner D, Reuter CM, McCormack C, Kravets E, Marwaha S, Holt JM; Undiagnosed Diseases Network; Worthey E, Ashley EA, Montgomery SB, Fisher P, Postlethwait J, De Camilli P, Solnica-Krezel L, Bernstein JA, Wheeler MT. Kohler JN, et al. Among authors: goddard p. Genet Med. 2024 May 16:101166. doi: 10.1016/j.gim.2024.101166. Online ahead of print. Genet Med. 2024. PMID: 38767059
336 results