Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study. Groeneweg S, van Geest FS, Abacı A, Alcantud A, Ambegaonkar GP, Armour CM, Bakhtiani P, Barca D, Bertini ES, van Beynum IM, Brunetti-Pierri N, Bugiani M, Cappa M, Cappuccio G, Castellotti B, Castiglioni C, Chatterjee K, de Coo IFM, Coutant R, Craiu D, Crock P, DeGoede C, Demir K, Dica A, Dimitri P, Dolcetta-Capuzzo A, Dremmen MHG, Dubey R, Enderli A, Fairchild J, Gallichan J, George B, Gevers EF, Hackenberg A, Halász Z, Heinrich B, Huynh T, Kłosowska A, van der Knaap MS, van der Knoop MM, Konrad D, Koolen DA, Krude H, Lawson-Yuen A, Lebl J, Linder-Lucht M, Lorea CF, Lourenço CM, Lunsing RJ, Lyons G, Malikova J, Mancilla EE, McGowan A, Mericq V, Lora FM, Moran C, Müller KE, Oliver-Petit I, Paone L, Paul PG, Polak M, Porta F, Poswar FO, Reinauer C, Rozenkova K, Menevse TS, Simm P, Simon A, Singh Y, Spada M, van der Spek J, Stals MAM, Stoupa A, Subramanian GM, Tonduti D, Turan S, den Uil CA, Vanderniet J, van der Walt A, Wémeau JL, Wierzba J, de Wit MY, Wolf NI, Wurm M, Zibordi F, Zung A, Zwaveling-Soonawala N, Visser WE. Lancet Diabetes Endocrinol. 2020 Jul;8(7):594-605. doi: 10.1016/S2213-8587(20)30153-4. PMID: 32559475
Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation. Klammt J, Neumann D, Gevers EF, Andrew SF (shared first authors), Schwartz ID, Rockstroh D, Colombo R, Sanchez MA, Vokurkova D, Kowalczyk J, Metherell LA, Rosenfeld RG, Pfäffle R, Dattani MT, Dauber A, Hwa V. Nat Commun. 2018 May 29;9(1):2105. doi: 10.1038/s41467-018-04521-0. PMID: 29844444
Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment. Celen C, Chuang JC, Luo X, Nijem N, Walker AK, Chen F, Zhang S, Chung AS, Nguyen LH, Nassour I, Budhipramono A, Sun X, Bok LA, McEntagart M, Gevers EF, Birnbaum SG, Eisch AJ, Powell CM, Ge WP, Santen GW, Chahrour M, Zhu H. Elife. 2017;11:6. pii: e25730. doi: 10.7554/eLife.25730. PMID:28695822
Paediatric pancreatic neuroendocrine tumours in von Hippel-Lindau disease. O'Toole SM, Sahdev A, Bhattacharya S, Feakins R, Gevers EF, Drake WM. Endocr Relat Cancer. 2018 Sep;25(9):L43-L47. doi: 10.1530/ERC-18-0123. PMID: 29752349
Prophylactic thyroidectomy in children with multiple endocrine neoplasia type 2. Prete FP, Abdel-Aziz T, Morkane C, Brain C, Kurzawinski TR; MEN2 in Children UK Collaborative Group. Br J Surg. 2018 Sep;105(10):1319-1327. doi: 10.1002/bjs.10856. Epub 2018 Apr 17. PMID: 29663329
Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells. Ruiz-Babot G, Balyura M, Hadjidemetriou I, Ajodha SJ, Taylor DR, Ghataore L, Taylor NF, Schubert U, Ziegler CG, Storr HL, Druce MR, Gevers EF, Drake WM, Srirangalingam U, Conway GS, King PJ, Metherell LA, Bornstein SR, Guasti L. Cell Rep. 2018 Jan 30;22(5):1236-1249. doi: 10.1016/j.celrep.2018.01.003. PMID: 29386111
Diabetic Ketoacidosis Severity at Diagnosis and Glycaemic Control in the First Year of Childhood Onset Type 1 Diabetes-A Longitudinal Cohort Study. Khanolkar AR, Amin R, Taylor-Robinson D, Viner RM, Warner J, Gevers EF, Stephenson T. Int J Environ Res Public Health. 2017 Dec 25;15(1). pii: E26. doi: 10.3390/ijerph15010026. PMID: 29295580
Ethnic differences in early glycaemic control (HbA1c) in childhood onset type 1 diabetes Khanolkar AR, Amin R, Taylor-Robinson D, Viner R, Warner J, Gevers EF, Stephenson T. BMJ Open Diabetes Res Care. 2017 Aug 7;5(1):e000423. doi: 10.1136/bmjdrc-2017-000423
Cushing Syndrome in a child due to Pro-opiomelanocortin (POMC) secretion from a yolk sac tumor. Gevers E, Meredith S, Shah P, Torpiano J, Peters C, Sebire N, Slater O, White A, Dattani M. Eur J Endocrinol. 2017;176:K1-K7. doi: 10.1530/EJE-16-0776. PMID: 27879325
Comprehensive screening of eight known causative genes in congenital hypothyroidism with gland-in-situ. Nicholas AK, Serra EG, Cangul H, Alyaarubi S, Ullah I, Schoenmakers E, Deeb A, Habeb AM, AlMaghamsi M, Peters C, Nathwani N, Aycan Z, Saglam H, Bober E, Dattani M, Shenoy S, Murray PG, Babiker A, Willemsen R, Thankamony A, Lyons G, Irwin R, Padidela R, Tharian K, Davies JH, Puthi V, Park SM, Massoud AF, Gregory JW, Albanese A, Pease-Gevers E, Martin H, Brugger K, Maher ER, Chatterjee K, Anderson CA, Schoenmakers N. J Clin Endocrinol Metab. 2016;101:4521-4531; PMID:27525530
Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis. Schoenmakers E, Carlson B, Agostini M, Moran C, Rajanayagam O, Bochukova E, Tobe R, Peat R, Gevers E, Muntoni F, Guicheney P, Schoenmakers N, Farooqi S, Lyons G, Hatfield D, Chatterjee K. J Clin Invest. 2016;126:992-6. doi: 10.1172/JCI84747. PMID:26854926