Dauber A, Jorge AAL, Nilsson O, Dekkers OM, Argente J, Netchine I, Backeljauw P, Baron J, Bertola DR, Clayton P, Davies JH, Edouard T, Eggermann T, Gevers EF, Grigelioniene G, Heath KE, Hee Jee Y, Lapunzina P, Mortier G, Pruhova S,Storr HL, Wakeling E, Ferreira CR, Hasegawa T, Hokken-Koelega A, Linglart A, Luo X, Wang X, Hwa V, Gregory LC, Buonocore F, Dattani M, Cianfarani S, Wit JM. International guideline on genetic testing of children with short stature. Eur J Endocrinol. 2026 Jan 16:lvag013. PMID:41543979
Kurup U, Lim DB, Maharaj AV, Ishida M, Davies JH, Storr HL. Silver-Russell syndrome secondary to rare (epi) genotypes exhibits phenotypic heterogeneity challenging clinical diagnosis. Clinical Epigenetics. 2025 Dec 22;17(1):208. PMID: 41430624
Lim DB, McClelland L, Page S, Connolly M, Owens M, Bowles C, Maharaj AV, Ishida M, Storr HL, Davies JH. Real-world utility of diagnostic gene panels for childhood short stature and pituitary hormone deficiency in the UK. Archives of Disease in Childhood. 2025 Nov 1;110(11):936-7. PMID: 41087042
Chatterjee S, Ishida M, Bertola DR, Agwu JC, Gaston-Massuet C, McGuffin LJ, Storr HL, Maharaj AV. Pathogenesis of Noonan syndrome is modulated by NOC2L, a novel interactor of LZTR1 leading to impaired p53 signalling. The Journal of Clinical Endocrinology & Metabolism. 2025 Nov 1:dgaf602. PMID: 41175093
Kurup U, Lim DB, Palau H, Maharaj AV, Ishida M, Davies JH, Storr HL. Approach to the patient with suspected Silver-Russell syndrome. The Journal of Clinical Endocrinology & Metabolism. 2024 Oct;109(10):e1889-901. PMID: 38888172
Maharaj AV, Ishida M, Rybak A, Elfeky R, Andrews A, Joshi A, Elmslie F, Joensuu A, Kantojärvi K, Jia RY, Perry JR. QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction. Nature Communications. 2024 Sep 28;15(1):8420. PMID: 39341815
Maharaj AV, Cottrell E, Thanasupawat T, Joustra SD, Triggs-Raine B, Fujimoto M, Kant SG, van der Kaay D, Clement-de Boers A, Brooks AS, Aguirre GA. Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome. JCI insight. 2024 Mar 22;9(6):e169425. PMID: 38516887
Rahman T, Freer J, Cordani I, Papasavva M, Dunkel L, Walton R, Storr HL, Prendergast AJ, Orr J. Parental and healthcare provider attitudes towards the Healthy Child Programme in England: a qualitative analysis. BMC Public Health. 2024 Aug 28;24(1):2342. PMID: 39198779
Backeljauw PF, Andrews M, Bang P, Dalle Molle L, Deal CL, Harvey J, Langham S, Petriczko E, Polak M, Storr HL, Dattani MT. Challenges in the care of individuals with severe primary insulin-like growth factor-I deficiency (SPIGFD): an international, multi-stakeholder perspective. Orphanet J Rare Dis. 2023 Oct 7;18(1):312. PMID: 37805563
Andrews A, Cottrell E, Maharaj A, Ladha T, Williams J, Schilbach K, Kaisinger LR, Perry JR, Metherell LA, McCormick PJ, Storr HL. Characterization of dominant-negative growth hormone receptor variants reveals a potential therapeutic target for short stature. European journal of endocrinology. 2023 Apr 4;188(4):353-65. PMID: 36943306
Davies JH, Child J, Freer J, Storr HL. Inequalities in the assessment of childhood short stature. Br J Gen Pract. 2023 Mar 30;73(729):150-151. PMID: 36997213
Storr HL, Freer J, Child J, Davies JH. Assessment of childhood short stature: a GP guide. Br J Gen Pract. 2023 Mar 30;73(729):184-186. PMID: 36997204.
Freer J, Orr J, Walton J, Storr HL, Dunkel L, Prendergast AJ.Does stunting still matter in high-income countries? Annals of Human Biology. 2023 50:1,267-273.PMID: 37358011.
Cottrell E, Maharaj A, Williams J, Chatterjee S, Cirillo G, Miraglia del Giudice E, Festa A, Palumbo S, Capalbo D, Salerno M, Pignata C. Growth hormone receptor (GHR) 6Ω pseudoexon activation: a novel cause of severe growth hormone insensitivity. The Journal of Clinical Endocrinology & Metabolism. 2022 Jan 1;107(1):e401-16. PMID: 34318893
Freer J, Orr J, Morris JK, Walton R, Dunkel L, Storr HL, Prendergast AJ.Short stature and language development in the United Kingdom: a longitudinal analysis of children from the Millennium Cohort Study.BMC Med20, 468 (2022). PMID: 36464678
Andrews A, Maharaj A, Cottrell E, Chatterjee S, Shah P, Denvir L, Dumic K, Bossowski A, Mushtaq T, Vukovic R, Didi M. Genetic characterization of short stature patients with overlapping features of growth hormone insensitivity syndromes. The Journal of Clinical Endocrinology & Metabolism. 2021 Nov 1;106(11):e4716-33. PMID: 34136918
Cottrell E, Ladha T, Borysewicz-Sańczyk H, Sawicka B, Savage MO, Bossowski AT, Storr HL. The value of whole exome sequencing for genetic diagnosis in a patient with Bloom syndrome. Journal of Endocrinological Investigation. 2021 Jun;44(6):1331-4. PMID: 32996068
Savage MO, Storr HL, Backeljauw PF. The continuum between GH deficiency and GH insensitivity in children. Reviews in Endocrine and Metabolic Disorders. 2021 Mar;22(1):91-9. PMID: 33025383
Orr J, Freer J, MorrisJK, Hancock C, WaltonR, Dunkel L, StorrHL, Prendergast AJ. Regional differences in short stature in England between 2006-2019: A cross-sectional analysis from the National Child Measurement Programme. PLOS Medicine. 2021. Sep 28;18(9):e1003760. PMID: 34582440.
Cottrell E, Cabrera CP, Ishida M, Chatterjee S, Greening J, Wright N, Bossowski A, Dunkel L, Deeb A, Basiri IA, Rose SJ. Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity. European journal of endocrinology. 2020 Dec;183(6):581-95. PMID: 33055295
Chatterjee S, Cottrell E, Rose SJ, Mushtaq T, Maharaj AV, Williams J, Savage MO, Metherell LA, Storr HL. GHR gene transcript heterogeneity may explain phenotypic variability in GHR pseudoexon (6Ψ) patients. Endocrine connections. 2020 Mar 1;9(3):211-22. PMID: 32061156
Storr HL, Chatterjee S, Metherell LA, Foley C, Rosenfeld RG, Backeljauw PF, Dauber A, Savage MO, Hwa V. Nonclassical GH insensitivity: characterization of mild abnormalities of GH action. Endocrine Reviews. 2019 Apr;40(2):476-505. PMID: 30265312
Chatterjee S, Shapiro L, Rose SJ, Mushtaq T, Clayton PE, Ten SB, Bhangoo A, Kumbattae U, Dias R, Savage MO, Metherell LA. Phenotypic spectrum and responses to recombinant human IGF1 (rhIGF1) therapy in patients with homozygous intronic pseudoexon growth hormone receptor mutation. European journal of endocrinology. 2018 May;178(5):481-9. PMID: 29500309
Shapiro L, Chatterjee S, Ramadan DG, Davies KM, Savage MO, Metherell LA, Storr HL. Whole-exome sequencing gives additional benefits compared to candidate gene sequencing in the molecular diagnosis of children with growth hormone or IGF-1 insensitivity. European Journal of Endocrinology. 2017 Dec;177(6):485-501. PMID: 28870985
Wacharasindhu S, Panamonta O, Shapiro L, Metherell LA, Savage MO, Storr HL. Young Thai sisters with growth hormone insensitivity or Laron syndrome. Asian Biomedicine. 2017 Aug 31;11(2):169-72. doi: 10.5372/1905-7415.1102.549.
Storr HL, Prasad R, Temple IK, Metherell LA, Savage MO, Walker JM. Heterogeneity of the growth phenotype and birth size in acid-labile subunit (ALS) deficiency. Journal of Endocrinological Investigation. 2015 Apr;38(4):407-12. PMID: 25352235
Bang P, Polak M, Woelfle J, Houchard A, EU IGFD Registry Study Group. Effectiveness and safety of rhIGF-1 therapy in children: the European Increlex® growth forum database experience. Hormone research in paediatrics. 2015 Mar 21;83(5):345-57. PMID: 25824333
Storr HL, Dunkel L, Kowalczyk J, Savage MO, Metherell LA. Genetic characterisation of a cohort of children clinically labelled as GH or IGF1 insensitive: diagnostic value of serum IGF1 and height at presentation. European Journal of Endocrinology. 2015 Feb;172(2):151-61. PMID: 25411237
