Below is a selection of papers that have been published as a result of our research on short stature:
Cottrell E, Maharaj A, Williams J, Chatterjee S, Cirillo G, Miraglia del Giudice E, Festa A, Palumbo S, Capalbo D, Salerno M, Pignata C, Savage MO, Schilbach K, Bidlingmaier M, Hwa V, Metherell LA, Grandone A, Storr HL. Growth hormone receptor (GHR) 6ω Pseudoexon activation: A novel cause of severe growth hormone insensitivity (GHI). J Clin Endocrinol Metab. 2021 Jul 28. Online ahead of print. British Endocrine Society 2019 - best abstract prize.
Andrews A, Maharaj A, Cottrell E, Chatterjee S, Shah P, Denvir L, Dumic K, Bossowski A, Mushtaq T, Vukovic R, Didi M, Shaw N, Metherell LA, Savage MO, Storr HL. Genetic characterization of short stature patients with overlapping features of growth hormone insensitivity syndromes. J Clin Endocrinol Metab. 2021 Jun 16. Online ahead of print.
Cottrell E, Ladha T, Borysewicz-Sańczyk H, Sawicka B, Savage MO, Bossowski AT, Storr HL (2020). The value of whole exome sequencing for genetic diagnosis in a patient with Bloom syndrome. J Endocrinol Invest. 2020 Sep 29. doi: 10.1007/s40618-020-01433-z. Online ahead of print. PMID: 32996068.
Savage MO, Storr HL, Backeljauw PF (2020). The continuum between GH deficiency and GH insensitivity in children. Rev Endocr Metab Disord. 2020 (In press).
Cottrell E, Cabrera CP, Ishida M, Chatterjee S, Greening J, Wright N, Bossowski A, Dunkel L, Deeb A, Al Basiri I, Rose S, Mason A, Bint S, Ahn JW, Hwa V, Metherell LA, Moore GE, Storr HL (2020). Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 Insensitivity. Eur J Endocrinol. 2020 (In press).
Chatterjee S, Cottrell E, Rose SJ, Mushtaq T, Maharaj AV, Williams J, Savage MO, Metherell LA, Storr HL (2020). GHR gene transcript heterogeneity may explain phenotypic variability in GHR pseudoexon (6Ψ) patients. Endocr Connect. 2020 Feb 1;9(3):211-22. doi: 10.1530/EC-20-0026. Online ahead of print. PMID: 32061156.
Storr HL, Chatterjee S, Metherell LA, Foley C, Rosenfeld RG, Backeljauw PF, Dauber A, Savage MO et al.(2019). Nonclassical GH insensitivity: Characterization of mild abnormalities of GH action. Endocrine Reviews vol. 40, (2) 476-505. 10.1210/er.2018-00146
Chatterjee S, Shapiro L, Rose SJ, Mushtaq T, Clayton PE, Ten SB, Bhangoo A, Kumbattae U et al.(2018). Phenotypic spectrum and responses to recombinant human IGF1 (rhIGF1) therapy in patients with homozygous intronic pseudoexon growth hormone receptor mutation. European Journal of Endocrinology vol. 178, (5) 481-489. 10.1530/EJE-18-0042
Shapiro L, Chatterjee S, Ramadan DG et al. (2017). Whole-exome sequencing gives additional benefits compared to candidate gene sequencing in the molecular diagnosis of children with growth hormone or IGF-1 insensitivity. Eur J Endocrinol vol. 177, (6) 485-501. 10.1530/EJE-17-0453
Wacharasindhu S, Panamonta O, Shapiro L et al. (2017). Young Thai sisters with growth hormone insensitivity or Laron syndrome. Asian Biomedicine vol. 11, (2) 167-170. 10.5372/1905-7415.1102.549
HL Storr, L Dunkel, J Kowalczyk, MO Savage, LA Metherell (2015). Genetic characterisation of a selected cohort of children with short stature and features of growth hormone insensitivity: diagnostic value of serum IGF-1 and height at presentation. Eur J Endocrinol. 2015; Nov 1;27(11-12):1029-31. 10.1530/EJE-14-0541
Bang P, Polak M, Woelfle J et al. (2015). Effectiveness and Safety of rhIGF-1 Therapy in Children: The European Increlex Growth Forum Database Experience. Hormone Research in Paediatrics vol. 83, (5) 345-357. 10.1159/000371798
Storr HL, Prasad R, Temple IK et al. (2015) . Heterogeneity of the growth phenotype and birth size in acid-labile subunit (ALS) deficiency.J Endocrinol Invest vol. 38, (4) 407-412. 10.1007/s40618-014-0195-1