Manchester University NHS Foundation Trust (MFT)

Report from the HarmoSter study: Different LC-MS/MS androstenedione, DHEAS and testosterone methods compare well; however, unifying calibration is a double-edged sword (2024) Fanelli F, Peitzsch M, Bruce S, Cantù M, Temchenko A, Mezzullo M, Lindner JM, et al. Journal article The journal of cardiovascular computed tomography: A year in review: 2022 (2023) Pontone G, Mushtaq S, Al'Aref SJ, Andreini D, Baggiano A, Canan A, Cavalcante JL, et al. Journal article Electroretinographic responses to luminance and cone-isolating white noise stimuli in macaques (2022) Kremers J, Aher A, Parry NRA, Patel NB, Frishman LJ Journal article Breast cancer risks associated with missense variants in breast cancer susceptibility genes (2022) Dorling L, Carvalho S, Allen J, Parsons MT, Fortuno C, Gonzalez-Neira A, Heijl SM, et al. Journal article Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group (2022) Bakhuizen JJ, Hanson H, Van De Tuin K, Lalloo F, Tischkowitz M, Wadt K, Doergeloh BB, et al. Conference contribution Report from the HarmoSter study: impact of calibration on comparability of LC-MS/MS measurement of circulating cortisol, 17OH-progesterone and aldosterone (2022) Fanelli F, Cantu M, Temchenko A, Mezzullo M, Lindner JM, Peitzsch M, Hawley JM, et al. Journal article SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile (2022) Al-Jawahiri R, Foroutan A, Kerkhof J, McConkey H, Levy M, Haghshenas S, Rooney K, et al. Journal article Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders (2021) Mannucci I, Dang NDP, Huber H, Murry JB, Abramson J, Althoff T, Banka S, et al. Journal article EULAR points to consider for the management of difficult-to-treat rheumatoid arthritis (2021) Nagy G, Roodenrijs NMT, Welsing PMJ, Kedves M, Hamar A, Van Der Goes MC, Kent A, et al. Journal article The genomic architecture of bladder exstrophy epispadias complex (2021) Beaman GM, Cervellione RM, Keene D, Reutter HM, Newman WG Journal article, Review article