Publications: Prof Helen Storr

Maharaj AV, Ishida M, Rybak A, Elfeky R, Andrews A, Joshi A, Elmslie F, Joensuu A et al. ( 2024 ) . QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction . Nature Communications vol. 15 , ( 1 )

V. MA, Ishida M, Rybak A, Elfeky R, Andrews A, McGuffin LJ, Hwa V, Storr HL ( 2024 ) . A novel human disorder: QSOX2 deficiency-induced growth restriction, gastrointestinal dysmotility and immune dysfunction highlights a new mechanism of disease . Endocrine Abstracts

Palau H, Kurup U, N. LDB, Ishida M, Maharaj AV, Davies JH, Storr HL ( 2024 ) . Rare causes of silver-russell syndrome frequently present with atypical features highlighting important implications for genetic testing and clinical management . Endocrine Abstracts

Rahman T, Freer J, Cordani I, Papasavva M, Dunkel L, Walton R, Storr HL, Prendergast AJ et al. ( 2024 ) . Parental and healthcare provider attitudes towards the Healthy Child Programme in England: a qualitative analysis . BMC Public Health vol. 24 , ( 1 )

Palau H, Kurup U, Ishida M, Maharaj AV, Davies JH, Storr HL ( 2024 ) . 6890 The standard clinical diagnostic criteria for Silver-Russell Syndrome poorly identifies monogenic cases . Conference: British Society of Paediatric Endocrinology and Diabetesa240.1 - a2a240 .

Kurup U, Lim DBN, Palau H, Maharaj AV, Ishida M, Davies JH, Storr HL ( 2024 ) . Approach to the Patient With Suspected Silver-Russell Syndrome . The Journal of Clinical Endocrinology & Metabolism vol. 109 , ( 10 ) e1889 - e1901 .

Kurup U, Palau H, Lim D, Ishida M, Vickram MA, Massoud A, Davies J, Storr H ( 2024 ) . The expanding phenotypic spectrum of silver-russell syndrome may confound decisions to investigate for (epi)genetic causes . Endocrine Abstracts

Maharaj AV, Cottrell E, Thanasupawat T, Joustra SD, Triggs-Raine B, Fujimoto M, Kant SG, van der Kaay D et al. ( 2024 ) . Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome . JCI Insight vol. 9 , ( 6 )

Korbonits M, Blair JC, Boguslawska A, Ayuk J, Davies JH, Druce MR, Evanson J, Flanagan D et al. ( 2024 ) . Consensus guideline for the diagnosis and management of pituitary adenomas in childhood and adolescence: Part 1, general recommendations . Nature Reviews Endocrinology vol. 20 , ( 5 ) 278 - 289 .

Korbonits M, Blair JC, Boguslawska A, Ayuk J, Davies JH, Druce MR, Evanson J, Flanagan D et al. ( 2024 ) . Consensus guideline for the diagnosis and management of pituitary adenomas in childhood and adolescence: Part 2, specific diseases . Nature Reviews Endocrinology vol. 20 , ( 5 ) 290 - 309 .

Andrews A, Savage MO, Storr H ( 2024 ) . Growth hormone insensitivity . Reference Module in Biomedical Sciences , Elsevier

Savage MO, Storr HL ( 2024 ) . Pediatric Cushing disease . Reference Module in Biomedical Sciences , Elsevier

Ruiz-Babot G, Eceiza A, Abollo-Jiménez F, Malyukov M, Carlone DL, Borges K, Da Costa AR, Qarin S et al. ( 2023 ) . Generation of glucocorticoid-producing cells derived from human pluripotent stem cells . Cell Reports Methods vol. 3 , ( 11 )

Maharaj A, Cottrell E, Massoud A, Hwa V, Storr H ( 2023 ) . Dysregulated pathways reveal NOVEL mechanistic insights underlying HMGA2-related growth failure in Silver Russell Syndrome . Endocrine Abstracts

Ishida M, Vestito L, Maharaj A, Cipriani V, Smedley D, Storr H ( 2023 ) . Novel insights into genetic causes of childhood growth failure from patients recruited to the 100 000 Genomes Project . Endocrine Abstracts

Palau H, Kurup U, Ishida M, Maharaj AV, Davies JH, Storr HL ( 2023 ) . Standard clinical diagnostic criteria for Silver-Russell Syndrome frequently overlooks monogenic causes . Endocrine Abstracts

Orr J, Thaventhiran T, Freer J, Walton R, Morris JK, Dunkel L, Prendergast AJ, Storr HL ( 2023 ) . Testing a screening algorithm for the identification of growth-disorders for use in UK children . Endocrine Abstracts

Backeljauw PF, Andrews M, Bang P, Dalle Molle L, Deal CL, Harvey J, Langham S, Petriczko E et al. ( 2023 ) . Challenges in the care of individuals with severe primary insulin-like growth factor-I deficiency (SPIGFD): an international, multi-stakeholder perspective . Orphanet Journal of Rare Diseases vol. 18 , ( 1 )

Thaventhiran T, Orr J, Morris JK, Hsu A, Martin L, Davies KM, Harding V, Chapple P et al. ( 2023 ) . A Digital Health Solution for Child Growth Monitoring at Home: Testing the Accuracy of a Novel “GrowthMonitor” Smartphone Application to Detect Abnormal Height and Body Mass Indices . Mayo Clinic Proceedings Digital Health vol. 1 , ( 4 ) 498 - 509 .

Aung Y, Kokotsis V, Yin KN, Banerjee K, Butler G, Dattani MT, Dimitri P, Dunkel L et al. ( 2023 ) . Key features of puberty onset and progression can help distinguish self-limited delayed puberty from congenital hypogonadotrophic hypogonadism . Frontiers in Endocrinology vol. 14 ,

Freer J, Orr J, Walton R, Storr HL, Dunkel L, Prendergast AJ ( 2023 ) . Does stunting still matter in high-income countries? . Annals of Human Biology vol. 50 , ( 1 ) 267 - 273 .

Storr HL ( 2023 ) . Author response . British Journal of General Practice vol. 73 , ( 731 ) 255 - 255 .

Savage MO, Donaldson MDC, Davies JH, Storr HL ( 2023 ) . Key Stages in the Development and Establishment of Paediatric Endocrinology: A Template for Future Progress . Hormone Research in Paediatrics vol. 97 , ( 1 ) 22 - 27 .

Storr HL, Freer J, Child J, Davies JH ( 2023 ) . Assessment of childhood short stature: a GP guide . British Journal of General Practice vol. 73 , ( 729 ) 184 - 186 .

Davies JH, Child J, Freer J, Storr HL ( 2023 ) . Inequalities in the assessment of childhood short stature . British Journal of General Practice vol. 73 , ( 729 ) 150 - 151 .

Oleari R, Lettieri A, Manzini S, Paganoni A, André V, Grazioli P, Busnelli M, Duminuco P et al. ( 2023 ) . Combined omic analyses reveal autism-linked NLGN3 gene as a key developmental regulator of GnRH neuron biology and disease . Disease Models & Mechanisms vol. 16 , ( 3 )

Andrews A, Cottrell E, Maharaj A, Ladha T, Williams J, Schilbach K, Kaisinger LR, Perry JRB et al. ( 2023 ) . Characterization of dominant-negative growth hormone receptor variants reveals a potential therapeutic target for short stature . European Journal of Endocrinology vol. 188 , ( 4 ) 353 - 365 .

Freer J, Orr J, Morris JK, Walton R, Dunkel L, Storr HL, Prendergast AJ ( 2022 ) . Short stature and language development in the United Kingdom: a longitudinal analysis of children from the Millennium Cohort Study . BMC Medicine vol. 20 , ( 1 )

Chatterjee S, Maharaj A, Storr H, Giri D ( 2022 ) . A rare case of short stature with high total insulin like growth factor 1 (IGF-1) and a novel pregnancy-associated plasma protein A2 (PAPPA2) gene mutation . Endocrine Abstracts

Cottrell E, Andrews A, Williams J, Chatterjee S, Edate S, Metherell LA, Hwa V, Storr HL . A rare heterozygous IGFI variant impairing IGF-I cleavage and causing postnatal growth failure: a novel disease mechanism offering insights into IGF-I physiology . Endocrine Abstracts .

Cottrell E, Maharaj A, Triggs-Raine B, Thanasupawat T, Williams J, Fujimoto M, A. VDH, De BC et al. . Characterisation of the first heterozygous missense HMGA2 variant helps delineate the crucial functional roles of a novel growth gene . Endocrine Abstracts .

Maharaj A, Andrews A, Chatterjee S, Hwa V, Storr H . Defects in QSOX2, a novel regulator of STAT5B nuclear import and transcriptional activity, lead to severe post-natal growth restriction . Endocrine Abstracts .

Thaventhiran T, Orr J, Morris J, Hsu A, Martin L, Davies K, Harding V, Dunkel L et al. ( 2022 ) . Development and testing of a novel 'Growth monitor' Smartphone App for growth monitoring and the detection of growth disorders . Endocrine Abstracts

Maharaj A, Cottrell E, van DH, de BC, Joustra S, Kant S, van DKD, Inmaculada CDCLM et al. ( 2022 ) . Understanding the molecular basis of short stature in six patients with pathogenic variants in HMGA2 . Endocrine Abstracts

A A, A M, E C, S C, P S, L D, K D, A B et al. ( 2022 ) . Genetic characterization of short stature patients with overlapping features of growth hormone insensitivity syndromes .

T S, HR P, K B, G B, MT D, M M, HL S, RH W et al. ( 2022 ) . Genetic evaluation supports differential diagnosis in adolescent patients with delayed puberty .

Maharaj A, Kwong R, Williams J, Smith C, Storr H, Krone R, Braslavsky D, Clemente M et al. ( 2022 ) . A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review . Endocrine Connections vol. 11 , ( 8 )

White G, Cosier S, Andrews A, Martin L, Willemsen R, Savage MO, Storr HL ( 2022 ) . Evaluating the sensitivity and specificity of the UK and Dutch growth referral criteria in predicting the diagnosis of pathological short stature . BMJ Paediatrics Open vol. 6 , ( 1 )

Andrews A, Cottrell E, Maharaj A, Ladha T, Williams J, A ML, J MP, Storr HL ( 2022 ) . Genetic analysis of patients with undiagnosed short stature identified novel dominant negative GH receptor variants which provide important insights into GHR physiology . Endocrine Abstracts

Oleari R, Lettieri A, Manzini S, Paganoni AJJ, Grazioli P, Busnelli M, Storr HL, Massa V et al. ( 2022 ) . A combined omic analysis revealed autism-linked <i>NLGN3</i> as a new candidate gene associated to GnRH neuron development and disease . EUROPEAN JOURNAL OF HUMAN GENETICS . vol. 30 , 34 - 34 .

Martin BS, Howard SR, Hughes CR, Storr HL, Willemsen RH ( 2022 ) . Diagnostic and management practices of girls presenting with polycystic ovary syndrome (PCOS)-like symptoms to a tertiary paediatric endocrine clinic . HORMONE RESEARCH IN PAEDIATRICS . vol. 95 , 379 - 379 .

Savage MO, Storr HL ( 2021 ) . Balanced assessment of growth disorders using clinical, endocrinological, and genetic approaches . Annals of Pediatric Endocrinology & Metabolism vol. 26 , ( 4 ) 218 - 226 .

Savage MO, Storr HL ( 2021 ) . GH Resistance Is a Component of Idiopathic Short Stature: Implications for rhGH Therapy . Frontiers in Endocrinology vol. 12 ,

White G, Cosier S, Andrews A, Willemsen RH, Savage MO, Storr HL ( 2021 ) . Evaluating UK Referral Criteria for Children with Short Stature in a Tertiary Paediatric Endocrinology Centre . Endocrine Abstracts

Andrews A, Cottrell E, Maharaj A, Ladha T, Williams J, Metherell LA, McCormick PJ, Storr HL . Novel dominant negative GH receptor variants provide important insights into GH receptor physiology . Endocrine Abstracts .

Orr J, Freer J, Morris JK, Hancock C, Walton R, Dunkel L, Storr HL, Prendergast AJ ( 2021 ) . 1099 An analysis of stunting in England using national data from the national child measurement programme . Archives of Disease in Childhood . Conference: Abstracts vol. 106 , a227 - a227 .

Thaventhiran T, Harding V, Hsu A, Dunkel L, Chapple P, Storr H ( 2021 ) . Development and testing of a novel 'GrowthMonitor' Smartphone App for growth monitoring and the detection of growth disorders . Endocrine Abstracts

Orr J, Freer J, Morris JK, Hancock C, Walton R, Dunkel L, Storr HL, Prendergast AJ ( 2021 ) . Regional differences in short stature in England between 2006 and 2019: A cross-sectional analysis from the National Child Measurement Programme . PLOS Medicine vol. 18 , ( 9 )

Zhou J, Azizan EAB, Cabrera CP, Fernandes-Rosa FL, Boulkroun S, Argentesi G, Cottrell E, Amar L et al. ( 2021 ) . Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause . Nature Genetics

Argentesi G, Azizan E, Zhou J, Cabrera C, O’Toole S, Wu X, Goodchild E, Cottrell E et al. ( 2021 ) . Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause . Nature Genetics

Cottrell E, Maharaj A, Williams J, Chatterjee S, Cirillo G, Miraglia Del Giudice E, Festa A, Palumbo S et al. ( 2021 ) . Growth Hormone Receptor (GHR) 6Ω Pseudoexon Activation: a Novel Cause of Severe Growth Hormone Insensitivity . J Clin Endocrinol Metab

Cottrell E, Maharaj A, Williams J, Chatterjee S, Cirillo G, Miraglia Del Giudice E, Festa A, Palumbo S et al. ( 2021 ) . Growth Hormone Receptor (Ghr) 6ω Pseudoexon Activation: A Novel Cause Of Severe Growth Hormone Insensitivity (Ghi) . J Clin Endocrinol Metab

Andrews A, Maharaj A, Cottrell E, Chatterjee S, Shah P, Denvir L, Dumic K, Bossowski A et al. ( 2021 ) . Genetic Characterization of Short Stature Patients with Overlapping Features of Growth Hormone Insensitivity Syndromes . Journal of Clinical Endocrinology and Metabolism vol. 106 , ( 11 ) E4716 - E4733 .

Cottrell E, Chatterjee S, Hwa V, Storr HL ( 2021 ) . A rare heterozygous IGFI variant causing postnatal growth failure and offering novel insights into IGF-I physiology . Endocrine Abstracts

Zhou J, Boulkroun S, Cabrera CP, Azizan EAB, Fernandes-Rosa F, Cottrell E, Argentesi G, Wu X et al. ( 2021 ) . CTNNB1-Mutant Aldosterone-Producing Adenomas With Somatic Mutations of GNA11/GNAQ Have Distinct Phenotype and Genotype . Journal of the Endocrine Society vol. 5 , ( Suppl 1 ) a65 - a66 .

Azizan EAB, Zhou J, Cabrera CP, Fernandes-Rosa FL, Boulkroun S, Argentesi G, Cottrell E, Amar L et al. ( 2021 ) . Somatic Mutations of GNA11 and GNAQ in CTNNB1-Mutant Aldosterone-Producing Adenomas Increases Aldosterone and Aldosterone Synthase (CYP11B2) . Journal of the Endocrine Society vol. 5 , ( Supplement_1 ) a72 - a72 .

Ueland GÅ, Kellmann R, Davidsen MJ, Viste K, Husebye ES, Almås B, Storr HL, Sagen JV et al. ( 2021 ) . Bedtime Salivary Cortisol as a Screening Test for Cushing Syndrome in Children . Journal of the Endocrine Society vol. 5 , ( 5 )

Ferrigno R, Hasenmajer V, Caiulo S, Minnetti M, Mazzotta P, Storr HL, Isidori AM, Grossman AB et al. ( 2021 ) . Paediatric Cushing's disease: Epidemiology, pathogenesis, clinical management and outcome . Rev Endocr Metab Disord

Argentesi G, Zhou J, Azizan E, Cabrera CP, Cottrell E, Wu X, Goodchild E, Foo R et al. ( 2021 ) . Aldosterone-producing adenomas with dual mutations of GNA11/Q and CTNNB1 lead to hypertension in puberty, pregnancy or menopause, and complete cure by adrenalectomy . JOURNAL OF HUMAN HYPERTENSION . vol. 35 , 5 - 5 .

Polak M, Bang P, Perrot V, Sert C, Storr HL, Woelfle J ( 2021 ) . Assessment of genetic defects, baseline characteristics and adverse events reported in the Increlex® registry . HORMONE RESEARCH IN PAEDIATRICS . vol. 94 , 320 - 321 .

Chatterjee S, Bertola DR, Agwu C, Maharaj A, Williams J, Cottrell E, Shapiro L, Andrews A et al. ( 2021 ) . Novel <i>LZTR1</i> mutations in subjects with features of Noonan Syndrome and GH insensitivity negatively regulate GH-induced IGF-I production and hyperactivate GH-induced ERK1/2 activation in response to GH <i>in</i> <i>vitro</i> . HORMONE RESEARCH IN PAEDIATRICS . vol. 94 , 322 - 323 .

Cottrell E, Cabrera CP, Ishida M, Chatterjee S, Greening J, Wright N, Bossowski A, Dunkel L et al. ( 2020 ) . Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity . European Journal of Endocrinology vol. 183 , ( 6 ) 581 - 595 .

Savage MO, Storr HL, Backeljauw PF ( 2020 ) . The continuum between GH deficiency and GH insensitivity in children . Reviews in Endocrine and Metabolic Disorders

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 . Journal of Endocrinological Investigation vol. 44 , ( 6 ) 1331 - 1334 .

Zhou J, Cabrera CP, Azizan EAB, Fernandes-Rosa F, Cottrell E, Amar L, Argentesi G, Wu X et al. ( 2020 ) . SAT-224 Recurrent Co-Driver Mutation in CTNNB1-Mutant Aldosterone-producing Adenomas (APA), Causing Reversible Hypertension in Puberty, Pregnancy or Menopause . Journal of the Endocrine Society vol. 4 , ( Suppl 1 ) A624 - A624 .

Chatterjee S, Cottrell E, Rose SJ, Mushtaq T, Maharaj AV, Williams J, Savage MO, Metherell LA et al. ( 2020 ) . GHR gene transcript heterogeneity may explain phenotypic variability in GHR pseudoexon (6Ψ) patients . Endocrine Connections vol. -1 , ( aop ) 211 - 222 .

Marques P, Caimari F, Hernández-Ramírez LC, Collier D, Iacovazzo D, Ronaldson A, Magid K, Lim CT et al. ( 2020 ) . Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors . The Journal of Clinical Endocrinology & Metabolism vol. 105 , ( 6 )

Cottrell E, Ladha T, Borysewicz-Sańczyk H, Sawicka B, Bossowski A, Storr HL ( 2019 ) . A rare but very important cause of growth failure . Endocrine Abstracts

Cottrell E, Ishida M, Moore G, Storr HL ( 2019 ) . Novel genetic defects in a cohort of Silver-Russell Syndrome (SRS) and SRS-like patients . Endocrine Abstracts

Chatterjee S, Bertola D, Agwu C, Karantza M, Cottrell E, Shapiro L, Maharaj AV, Williams J et al. ( 2019 ) . Novel variants in the Leucine-zipper-like transcription regulator 1 (LZTR1) gene cause Noonan syndrome phenotype by upregulation of the RAS-MAPKinase pathway . Endocrine Abstracts

Cottrell E, Maharaj A, Ladha T, Chatterjee S, Grandone A, Cirillo G, del GEM, Kostalova L et al. ( 2019 ) . Three novel Growth Hormone Receptor (GHR) splicing mutations causing a spectrum of Growth Hormone Insensitivity . Endocrine Abstracts

Zhou J, Storr H, Cottrell E, Cabrera C, Argentesi G, Wu X, Goodchild E, Azizan E et al. ( 2019 ) . Double somatic mutations of CTNNB1 and GNA11 in aldosterone producing adenomas (APAs) presenting in puberty, pregnancy or menopause . Endocrine Abstracts

Rubinstein G, Osswald A, Hoster E, Losa M, Elenkova A, Zacharieva S, Machado MC, Hanzu FA et al. ( 2019 ) . Time to diagnosis in Cushing's syndrome: A meta-analysis based on 5367 patients . Journal of Clinical Endocrinology and Metabolism

Storr HL, Shah N, Wojna J, Han K, Roughton M, Pierre CF, Pultar P, Savage MO ( 2019 ) . A phase 2 study assessing osilodrostat in children and adolescent patients with Cushing's disease - Rationale and methods . Endocrine Abstracts

Savage M, Shah N, Wojna J, Han K, Roughton M, Combes FP, Pultar P, Storr H ( 2019 ) . SUN-454 Rationale and Methods for a Phase II Trial Evaluating Osilodrostat in Pediatric Patients with Cushing's Disease . Journal of the Endocrine Society vol. 3 , ( Supplement_1 ) sun - 454 .

Tufton N, Shapiro L, Sahdev A, Kumar AV, Martin L, Drake WM, Akker SA, Storr HL ( 2019 ) . An analysis of surveillance screening for SDHB-related disease in childhood and adolescence . Endocrine Connections vol. -1 , ( aop ) 162 - 172 .

Chatterjee S, Rose SJ, Mushtaq T, Cottrell E, Maharaj AV, Williams J, Savage MO, Metherell LA et al. ( 2019 ) . <i>GHR</i> transcript heterogeneity may explain the phenotypic variability in patients with homozygous <i>GHR</i> pseudoexon (6Ψ) mutation . HORMONE RESEARCH IN PAEDIATRICS . vol. 91 , 111 - 111 .

Borysewicz-Sanczyk H, Sawicka B, Cottrell E, Ladha T, Storr H, Bossowski A ( 2019 ) . Bloom Syndrome in 7-year-old girl diagnosed with short stature . HORMONE RESEARCH IN PAEDIATRICS . vol. 91 , 574 - 574 .

Wilkinson ICE, Savage MO, Storr HL ( 2019 ) . Pediatric Cushing's Disease . Encyclopedia of Endocrine Diseases , Elsevier

Cottrell E, Maharaj A, Chatterjee S, Grandone A, Cirillo G, Miraglia DGE, Metherell LA, Storr HL ( 2018 ) . A novel GHR pseudoexon mutation causing frameshift and severe postnatal growth failure . Endocrine Abstracts

Costa ARD, Qarin S, Bradshaw T, Watson D, Prasad R, Metherell LA, Barnes MR, Skarnes W et al. ( 2018 ) . Can novel stem cell models help unpick the pathogenesis of the Triple A syndrome? . Endocrine Abstracts

Chatterjee S, Rose SJ, Mushtaq T, Cottrell E, Maharaj AV, Williams J, Savage MO, Metherell LA et al. ( 2018 ) . Genotype-phenotype correlation in patients with homozygous GHR pseudoexon (6Ψ) mutation . Endocrine Abstracts

Wilkinson IC, Riddoch F, Perry LA, Martin L, Grossman AB, Monson JP, Akker S, Savage MO et al. . New insights into the low dose dexamethasone suppression test in paediatric Cushing's syndrome (CS) . Endocrine Abstracts .

Cottrell E, Chatterjee S, Moore G, Ishida M, Greening J, Wright N, Bossowski A, Deeb A et al. ( 2018 ) . Patients with short stature and GH/IGF-1 insensitivity harbour copy number variants causing a Silver-Russell-like phenotype . Endocrine Abstracts

Storr HL, Chatterjee S, Metherell LA, Foley C, Rosenfeld RG, Backeljauw PF, Dauber A, Savage MO et al. ( 2018 ) . Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action . Endocrine Reviews vol. 40 , ( 2 ) 476 - 505 .

Da Costa AR, Qarin S, Bradshaw TY, Watson D, Prasad R, Barnes MR, Metherell LA, Chapple JP et al. ( 2018 ) . A Novel Stem Cell Model for the Triple a Syndrome . HORMONE RESEARCH IN PAEDIATRICS . Conference: 57th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE) ( Athens, Greece ) from: 27/09/2018 to: 29/09/2018 , vol. 90 , 29 - 29 .

Cottrell E, Maharaj A, Chatterjee S, Grandone A, Cirillo G, Miraglia del Giudice E, Metherell LA, Storr HL ( 2018 ) . A Second Growth Hormone Receptor Pseudoexon Mutation Causing Frameshift and Severe Postnatal Growth Failure . HORMONE RESEARCH IN PAEDIATRICS . Conference: European Society for Paediatric Endocrinology vol. 90 , 637 - 638 .

Cottrell E, Chatterjee S, Moore G, Ishida M, Greening J, Wright N, Bossowski A, Deeb A et al. ( 2018 ) . Patients with GH Insensitivity and IGF-1 Resistance Harbour Copy Number Variants Causing a Silver-Russell-Like Phenotype . HORMONE RESEARCH IN PAEDIATRICS . Conference: European Society for Paediatric Endocrinology vol. 90 , 105 - 105 .

G R-B, M B, I H, SJ A, DR T, L G, NF T, U S et al. ( 2018 ) . Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells .

Prete FP, Abdel-Aziz T, Morkane C, Brain C, Kurzawinski TR, Hindmarsh P, Dattani M, Spoudeas H et al. ( 2018 ) . Prophylactic thyroidectomy in children with multiple endocrine neoplasia type 2 . British Journal of Surgery vol. 105 , ( 10 ) 1319 - 1327 .

Marques P, Barry S, Ronaldson A, Ogilvie A, Storr HL, Goadsby PJ, Powell M, Dang MN et al. ( 2018 ) . Emergence of Pituitary Adenoma in a Child during Surveillance: Clinical Challenges and the Family Members' View in an AIP Mutation-Positive Family . Int J Endocrinol vol. 2018 , 8581626 - 8581626 .

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 .

Ruiz-Babot G, Balyura M, Hadjidemetriou I, Ajodha SJ, Taylor DR, Ghataore L, Taylor NF, Schubert U et al. ( 2018 ) . Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells . Cell Reports vol. 22 , ( 5 ) 1236 - 1249 .

Savage MO, Chatterjee S, Hwa V, Storr HL ( 2018 ) . Growth Hormone Insensitivity☆ . Encyclopedia of Endocrine Diseases , Elsevier

Wilkinson ICE, Evanson J, Matson M, Miszkiel K, Grieve J, Sabin I, Afshar F, Martin L et al. ( 2017 ) . New insights into the preoperative localisation of corticotroph adenomas in paediatric Cushing's disease (CD) . Endocrine Abstracts

Da CAR, Meimaridou E, Prasad R, Metherell LA, Chapple JP, Storr HL ( 2017 ) . Novel evidence implies that ALADIN, the triple A syndrome gene product is involved in mitochondrial physiology . Endocrine Abstracts

Chatterjee S, Rose S, Mushtaq T, Clayton P, Ten S, Bhangoo A, Kumbattae U, Dias R et al. ( 2017 ) . Phenotypic spectrum and response to recombinant human IGF1(rhIGF1) therapy in patients with homozygous intronic pseudoexon (6Ψ)GH receptor mutations . Endocrine Abstracts

Wilkinson ICEW, Meso M, Rowse V, Joel E, Morris E, Price L, Storr HL, Drake WM ( 2017 ) . Radioactive Iodine therapy for the management of hyperthyroidism in children and adolescents . Endocrine Abstracts

Yordanova G, Martin L, Afshar F, Sabin I, Alusi G, Plowman NP, Riddoch F, Evanson J et al. ( 2017 ) . Long-term outcomes of children treated for Cushing's disease: a single center experience . Pituitary vol. 19 , ( 6 ) 612 - 624 .

Shapiro L, Chatterjee S, Ramadan DG, Davies KM, Savage MO, Metherell LA, Storr HL ( 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 . European Journal of Endocrinology vol. 177 , ( 6 ) 485 - 501 .

Katugampola H, King PJ, Chatterjee S, Meso M, Duncan AJ, Achermann JC, Guasti L, Ghataore L et al. ( 2017 ) . Kisspeptin is a novel regulator of human fetal adrenocortical development and function – a finding with important implications for the human feto-placental unit . The Journal of Clinical Endocrinology & Metabolism

Marques P, Dang M, Ogilvie A, Storr H, Powell M, Grieve J, Evason J, Kumar A et al. ( 2017 ) . Long-term follow-up of a family with a large AIP gene deletion: variable phenotypes and challenges in the management . Endocrine Abstracts

Wacharasindhu S, Panamonta O, Shapiro L, Metherell LA, Savage MO, Storr HL ( 2017 ) . Young Thai sisters with growth hormone insensitivity or Laron syndrome . Asian Biomedicine vol. 11 , ( 2 ) 167 - 170 .

METHERELL LA, Prasad R, Storr HL, Guasti L, Maharaj A, Meimaridou E, Hadjidemetriou I ( 2017 ) . Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome . Journal of Clinical Investigation

Alkandari HMA, Al Tararwa A, Al Shallal FM, Al Otaibi SA, Storr H ( 2017 ) . ACTH SECRETING PITUITARY ADENOMA IN A CHILD WITH ROHHAD SYNDROME . HORMONE RESEARCH IN PAEDIATRICS . vol. 88 , 512 - 512 .

Chatterjee S, Shapiro L, Rose S, Mushtaq T, Clayton P, Ten S, Bhangoo APS, Kumbattae U et al. ( 2017 ) . PHENOTYPIC SPECTRUM AND RESPONSES TO RECOMBINANT HUMAN IGF-I (RHIGF-I) THERAPY IN PATIENTS WITH HOMOZYGOUS GH RECEPTOR PSEUDOEXON DEFECTS . HORMONE RESEARCH IN PAEDIATRICS . vol. 88 , 290 - 290 .

Monti E, Man E, Torpiano J, Rumsby G, Carmichael P, Storr H, Brain C, Buchanan C et al. ( 2016 ) . 5-alpha reductase deficiency: insights into the diagnosis and management of a rare condition . Endocrine Abstracts

Storr H ( 2016 ) . GH deficiency vs GH insensitivity . Endocrine Abstracts

METHERELL LA ( 2016 ) . Predictive factors of an underlying genetic defect in children with short stature and suspected growth hormone insensitivity (GHI) . Conference: 44th Meeting of the British Society for Paediatric Endocrinology and Diabetes

Tufton N, Shapiro L, Srirangalingam U, Richards P, Sahdev A, Kumar AV, McAndrew L, Martin L et al. ( 2016 ) . Outcomes of annual surveillance imaging in an adult and paediatric cohort of succinate dehydrogenase B mutation carriers . Clinical Endocrinology vol. 86 , ( 2 ) 286 - 296 .

METHERELL LA ( 2016 ) . Mutations in SGPL1, encoding sphingosine-1-phosphate lyase, cause a novel form of primary adrenal insufficiency with steroid resistant nephrotic syndrome . Conference: Society for Endocrinology BES 2016 ( Brighton )

Tufton N, Shapiro L, Srirangalingam U, Richards P, Sahdev A, Kumar VKA, Chew SL, Drake WM et al. ( 2016 ) . Outcomes of annual surveillance imaging in an adult and paediatric cohort of succinate dehydrogenase B mutation carriers . Endocrine Abstracts

Shapiro L, Elahi S, Riddoch F, Perry LA, Martin L, Akker SA, Monson JP, Drake WM et al. ( 2016 ) . Investigation for Paediatric Cushing's Syndrome Using Twenty-Four-Hour Urinary Free Cortisol Determination . Horm Res Paediatr vol. 86 , ( 1 ) 21 - 26 .

Cavlan D, Evagora C, Berney D, Storr H, Drake W, King P ( 2016 ) . Adrenal pigmentation in PPNAD is a result of melanin deposition and associated with upregulation of the melanocortin 1 receptor . Endocrine Abstracts

HOWARD SR, Guasti L, Ruiz-Babot G, Mancini A, David A, Storr H, Metherell LA, Sternberg MJE et al. ( 2016 ) . IGSF10 mutations dysregulate gonadotropin‐releasing hormone neuronal migration resulting in delayed puberty . EMBO Molecular Medicine vol. 8 , ( 6 ) 626 - 42 .

Howard S, Guasti L, Ruiz-Babot G, Mancini A, David A, Storr H, Metherell L, Sternberg M et al. ( 2016 ) . Role of IGSF10 mutations in self-limited delayed puberty . The Lancet . vol. 387 ,

Yordanova G, Iotova V, Zheleva E, Bachvarov C, Bocheva Y, Galcheva S, Enchev Y, Ivanov K et al. ( 2016 ) . Paediatric Cushing Disease: One Patient's Path to Cure . HORMONE RESEARCH IN PAEDIATRICS . vol. 86 , 430 - 430 .

Shapiro L, Savage M, Davies K, Metherell L, Storr H ( 2016 ) . Whole Exome Sequencing can Identify Defects not Detected by Candidate Gene Sequencing in Patients with Short Stature and Features of Growth Hormone Insensitivity (GHI) . HORMONE RESEARCH IN PAEDIATRICS . vol. 86 , 47 - 47 .

Shapiro L, Savage M, Metherell L, Storr H ( 2015 ) . Genetic characterisation of children with short stature and GH or IGF1 insensitivity by single gene and whole exome sequencing . Endocrine Abstracts

Arya VB, Irvine V, Rowlands H, Sykes K, Nicolin G, Drake W, Storr H, Davies JH ( 2015 ) . Intravenous Etomidate in the management of hypercortisolaemia due to ectopic ACTH producing thymic neuroendocrine tumor . Endocrine Abstracts

Howard S, Poliandre A, Storr HL, Metherell LA, Cabrera C, Warren H, Barnes M, Wehkalampi K et al. ( 2015 ) . Mutations in HS6ST1 cause self-limited delayed puberty (DP) in addition to idiopathic hypogonadotropic hypogonadism (IHH) . Endocrine Abstracts

Howard S, Guasti L, Ruiz-Babot G, Mancini A, David A, Storr H, Metherell L, Cabrera C et al. ( 2015 ) . Mutations in IGSF10 cause self-limited delayed puberty . Endocrine Abstracts

Howard S, Poliandri A, Storr H, Metherell L, Cabrera C, Barnes M, Warren H, Wehkalampi K et al. ( 2015 ) . Mutations in HS6ST1 are causal in self-limited delayed puberty as well as idiopathic hypogonadotropic hypogonadism . Endocrine Abstracts

Howard S, Guasti L, Ruiz-Babot G, Mancini A, David A, Storr H, Metherell L, Sternberg M et al. ( 2015 ) . Mutations in IGSF10 cause self-limited delayed puberty, via disturbance of GnRH neuronal migration . Endocrine Abstracts

Hernández-Ramírez LC, Gabrovska P, Dénes J, Stals K, Trivellin G, Tilley D, Ferraù F, Evanson J et al. ( 2015 ) . Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers . The Journal of Clinical Endocrinology & Metabolism vol. 100 , ( 9 ) e1242 - e1254 .

Storr HL, Savage MO ( 2015 ) . MANAGEMENT OF ENDOCRINE DISEASE: Paediatric Cushing's disease . European Journal of Endocrinology vol. 173 , ( 1 ) r35 - r45 .

Le Quesne Stabej P, Williams HJ, James C, Tekman M, Stanescu HC, Kleta R, Ocaka L, Lescai F et al. ( 2015 ) . STAG3 truncating variant as the cause of primary ovarian insufficiency . European Journal of Human Genetics vol. 24 , ( 1 ) 135 - 138 .

Storr HL, Prasad R, Temple IK, Metherell LA, Savage MO, Walker JM ( 2015 ) . Heterogeneity of the growth phenotype and birth size in acid-labile subunit (ALS) deficiency . J Endocrinol Invest vol. 38 , ( 4 ) 407 - 412 .

Bang P, Polak M, Woelfle J, Houchard A ( 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 .

Perchard R, Say J, Pitts J, Storr HL, Amin R ( 2014 ) . Use of Continuous Glucose Monitoring to Identify Glucose Dysregulation in Growth Hormone Insensitivity Syndrome . Hormone Research in Paediatrics vol. 82 , ( 6 ) 394 - 398 .

Storr HL, Dunkel L, Kowalczyk J, Savage MO, Metherell LA ( 2014 ) . 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 vol. 172 , ( 2 ) 151 - 161 .

Savage MO, Storr HL ( 2014 ) . Fundamental principles of clinical and biochemical evaluation underlie the diagnosis and therapy of Cushing’s syndrome . Journal of Pediatric Endocrinology and Metabolism vol. 27 , ( 11-12 ) 1029 - 1031 .

Pease-Gevers E, Kowalczyk J, Storr H, Metherell L, Dattani M ( 2014 ) . A heterozygous STAT5B variant in a family with short stature and transient hyperprolactinaemia: a possible dominant negative effect . Endocrine Abstracts

Katugampola H, Halder W, Ganatra R, Dunkel L, Storr H, Guasti L, King P ( 2014 ) . Expression of Sonic hedgehog signalling components in the developing human adrenal cortex . Endocrine Abstracts

Shapiro L, Elahi S, Bailey J, Martin L, Drake WM, Savage MO, Storr HL ( 2014 ) . The accuracy of 24-h urinary free cortisol as a screening test in the diagnosis of Cushing's syndrome in children . Endocrine Abstracts

Prasad R, Chan LF, Hughes CR, Kaski JP, Kowalczyk JC, Savage MO, Peters CJ, Nathwani N et al. ( 2014 ) . Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD) . J Clin Endocrinol Metab vol. 99 , ( 8 ) E1556 - E1563 .

Prasad R, Kowalczyk JC, Meimaridou E, Storr HL, Metherell LA ( 2014 ) . Oxidative stress and adrenocortical insufficiency . J Endocrinol vol. 221 , ( 3 ) R63 - R73 .

Meimaridou E, Prasad R, Kowalczyk J, Clark A, Storr H, Metherell L ( 2014 ) . Mitochondrial thiol systems are important players in antioxidant defence for the human adrenal cortex . Endocrine Abstracts

Korbonits M, Storr H, Kumar AV, Cozzi R ( 2014 ) . Gli adenomi ipofisari familiari: chi dovrebbe essere testato per le mutazioni AIP? . L'Endocrinologo vol. 14 , ( 1 ) 43 - 43 .

Alexandraki KI, Kaltsas GA, Isidori AM, Storr HL, Afshar F, Sabin I, Akker SA, Chew SL et al. ( 2014 ) . Remissione a lungo termine e recidiva nella malattia di Cushing: fattori predittivi valutati in un singolo centro . L'Endocrinologo vol. 14 , ( 4 ) 181 - 181 .

Howard S, Guasti L, Storr H, Metherell L, Cariboni A, Barnes M, Cabrera C, Wehkalampi K et al. ( 2014 ) . A novel gene affecting the timing of puberty . Endocrine Abstracts

Storr HL, Drake WM, Evanson J, Matson M, Berney DM, Grossman AB, Akker SA, Monson JP et al. ( 2014 ) . Endonasal endoscopic transsphenoidal pituitary surgery: Early experience and outcome in paediatric Cushing's disease . Clinical Endocrinology vol. 80 , ( 2 ) 270 - 276 .

Storr HL, Drake WM, Evanson J, Matson M, Berney DM, Grossman AB, Akker SA, Monson JP et al. ( 2014 ) . Endonasal endoscopic transsphenoidal pituitary surgery: early experience and outcome in paediatric Cushing's disease . Clin Endocrinol (Oxf) vol. 80 , ( 2 ) 270 - 276 .

Prasad R, Metherell LA, Clark AJ, Storr HL ( 2013 ) . Deficiency of ALADIN impairs redox homeostasis in human adrenal cells and inhibits steroidogenesis . Endocrinology vol. 154 , ( 9 ) 3209 - 3218 .

Meimaridou E, Prasad R, Kowalczyk JC, Clark AJL, Storr HL, Metherell LA ( 2013 ) . PP43 Genome sequencing reveals mitochondrial thiol systems are essential for antioxidant defence in human adrenal glands . Free Radical Biology and Medicine vol. 65 ,

Clayton P, Bonnemaire M, Dutailly P, Maisonobe P, Naudin L, Pham E, Zhang Z, Grupe A et al. ( 2013 ) . Characterizing Short Stature by Insulin-like Growth Factor Axis Status and Genetic Associations: Results From the Prospective, Cross-sectional, Epidemiogenetic EPIGROW Study . The Journal of Clinical Endocrinology & Metabolism vol. 98 , ( 6 ) e1122 - e1130 .

Alexandraki KI, Kaltsas GA, Isidori AM, Storr HL, Afshar F, Sabin I, Akker SA, Chew SL et al. ( 2013 ) . Long-term remission and recurrence rates in Cushing's disease: predictive factors in a single-centre study . Eur J Endocrinol vol. 168 , ( 4 ) 639 - 648 .

Prasad R, Hughes C, Chan L, Peters C, Nathwani N, Clark A, Storr H, Metherell L ( 2013 ) . A mutation in thioredoxin reductase 2 (TXNRD2) is associated with a predominantly adrenal phenotype in humans . Endocrine Abstracts1 - 1 .

Howard S, Barnes M, Storr H, Wehkalampi K, Metherell L, Dunkel L ( 2013 ) . Familial constitutional delay in growth and puberty is a condition with significant genetic heterogeneity and limited overlap with the timing of puberty in the general population . Endocrine Abstracts1 - 1 .

Cowell C, Storr H, Savage M ( 2013 ) . Adrenal disorders . Growth Disorders 2E , Taylor & Francis

Williams F, Hunter S, Bradley L, Chahal HS, STORR HL, Akker SA, Kumar AV, Orme SM et al. ( 2013 ) . Clinical experience in the screening and management of a large kindred with familial isolated pituitary adenoma due to an aryl hydrocarbon receptor interacting protein (AIP) mutation . Journal of Clinical Endocrinology and Metabolism vol. 99 , ( 4 ) 1122 - 1131 .

Guaraldi F, STORR HL, Ghizzoni L, Ghigo E, Savage MO ( 2013 ) . Paediatric pituitary adenomas: a decade of change . Hormone Research in Paediatrics: from developmental endocrinology to clinical research vol. 81 , ( 3 ) 145 - 155 .

Savage MO, Storr HL ( 2012 ) . Pediatric Cushing's disease: Management Issues . Indian J Endocrinol Metab vol. 16 , ( Suppl 2 ) S171 - S175 .

Prasad⁎ R, Clark AJ, Storr HL ( 2012 ) . Deficiency of ALADIN, the AAAS gene product, renders human adrenal and neuronal cells susceptible to oxidative stress . Free Radical Biology and Medicine vol. 53 ,

Korbonits M, Storr H, Kumar AV ( 2012 ) . Familial pituitary adenomas - who should be tested for AIP mutations? . Clin Endocrinol (Oxf) vol. 77 , ( 3 ) 351 - 356 .

Clark AJL, Storr HL, Meimaridou E, Metherell AL ( 2012 ) . Oxidative Stress as a Disease Mechanism in Inherited Adrenal Failure . JOURNAL OF PATHOLOGY . vol. 226 ,

Clark AJL, STORR HL, Meimaridou E, Metherell LA ( 2012 ) . Oxidative Stress as a Disease Mechanism in Inherited Adrenal Failure . Journal of Pathology vol. 226 ,

Hughes CR, STORR HL, Grossman AB, Savage MO ( 2011 ) . Diagnosis and treatment of paediatric Cushing’s disease . Cushing's Disease , Editors: Swearingen, B, Biller, BMK , Springer

Metherell LA, STORR HL, Savage MO ( 2011 ) . Genetic defects of the human somatotrophic axis . Oxford Textbook of Endocrinology and Diabetes , Editors: Wass, JAH, Stewart, PM , Oxford University Press

Storr HL, Alexandraki KI, Martin L, Isidori AM, Kaltsas GA, Monson JP, Besser GM, Matson M et al. ( 2011 ) . Comparisons in the epidemiology, diagnostic features and cure rate by transsphenoidal surgery between paediatric and adult-onset Cushing's disease . Eur J Endocrinol vol. 164 , ( 5 ) 667 - 674 .

Prasad R, Johnston LB, Savage MO, Martin L, Perry LA, Storr HL ( 2011 ) . Pediatric endocrine screening for von Hippel-Lindau disease: benefits and the challenge of compliance . J Endocrinol Invest vol. 34 , ( 4 ) 296 - 299 .

Prasad R, Johnston LB, Savage MO, Martin L, Perry LA, Storr HL ( 2011 ) . Pediatric endocrine screening for von Hippel-Lindau disease: benefits and the challenge of compliance . J Endocrinol Invest vol. 34 , ( 4 ) 296 - 299 .

Savage MO, Afshar F, Plowman PN, Dias RP, Grossman AB, STORR HL ( 2011 ) . Special aspects of Cushing's syndrome: Childhood . Cushing's Syndrome: Pathophysiology, Diagnosis and Treatment , Editors: Bronstein, MD, Bronstein, M , Humana Press ( London ),

Chan LF, Vaidya M, Westphal B, Allgrove J, Martin L, Afshar F, Hindmarsh PC, Savage MO et al. ( 2011 ) . Use of intravenous etomidate to control acute psychosis induced by the hypercortisolaemia in severe paediatric Cushing's disease . Horm Res Paediatr vol. 75 , ( 6 ) 441 - 446 .

Chan LF, Hughes CR, Allgrove JA, Martin L, Afshar F, Hindmarsh PC, Savage MO, Grossman AB et al. ( 2010 ) . Use of Intravenous Etomidate in a Child To Control Acute Psychosis Induced by the Hypercortisolemia Secondary to Severe Cushing's Disease . ENDOCRINE REVIEWS . vol. 31 ,

Dias RP, Kumaran A, Chan LF, Martin L, Afshar F, Matson M, Plowman PN, Monson JP et al. ( 2010 ) . Diagnosis, management and therapeutic outcome in prepubertal Cushing's disease . Eur J Endocrinol vol. 162 , ( 3 ) 603 - 609 .

Savage MO, Dias RP, Chan LF, Afshar F, Plowman PN, Matson M, Grossman AB, STORR HL ( 2010 ) . Diagnosis and Treatment of Cushing’s Disease in Children . Pediatric Neuroendocrinology , Editors: Loche, S, Cappa, M, Ghizzoni, L, Maghnie, M et al. , Karger Publishers

Savage MO, Dias RP, Chan LF, Afshar F, Plowman NP, Matson M, Grossman AB, Storr HL ( 2010 ) . Diagnosis and treatment of Cushing's disease in children . Endocr Dev vol. 17 , 134 - 145 .

Storr HL, Metherell LA, Dias R, Savage MO, Rasmussen AK, Clark AJL, Main KM ( 2010 ) . Familial Isolated Primary Pigmented Nodular Adrenocortical Disease Associated with a Novel Low Penetrance PRKAR1A Gene Splice Site Mutation . HORM RES PAEDIAT vol. 73 , ( 2 ) 115 - 119 .

Storr HL, Metherell LA, Dias R, Savage MO, Rasmussen AK, Clark AJL, Main KM ( 2010 ) . Familial isolated primary pigmented nodular adrenocortical disease associated with a novel low penetrance PRKAR1A gene splice site mutation . Horm Res Paediatr vol. 73 , ( 2 ) 115 - 119 .

Storr HL, Kind B, Parfitt DA, Chapple JP, Lorenz M, Koehler K, Huebner A, Clark AJL ( 2009 ) . Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism . Mol Endocrinol vol. 23 , ( 12 ) 2086 - 2094 .

Storr HL, Kind B, Parfitt DA, Chapple JP, Lorenz M, Koehler K, Huebner A, Clark AJL ( 2009 ) . Deficiency of Ferritin Heavy-Chain Nuclear Import in Triple A Syndrome Implies Nuclear Oxidative Damage as the Primary Disease Mechanism . The Journal of Clinical Endocrinology & Metabolism vol. 94 , ( 11 ) 4626 - 4626 .

Savage MO, Storr HL ( 2009 ) . Growth and body composition at diagnosis and postcure in children with Cushing's syndrome . Pediatric Health vol. 3 , ( 1 ) 13 - 18 .

Dias RP, Kumaran A, Chan LF, Martin L, Afshar F, Matson M, Plowman PN, Monson JP et al. ( 2009 ) . Prepubertal Cushing's disease: diagnosis, management and therapeutic outcome . HORM RES vol. 72 , 72 - 72 .

Savage MO, Chan LF, Grossman AB, Storr HL ( 2008 ) . Work-up and management of paediatric Cushing's syndrome . Curr Opin Endocrinol Diabetes Obes vol. 15 , ( 4 ) 346 - 351 .

Cooray SN, Chan L, Metherell L, STORR HL, Clark AJ ( 2008 ) . Adrenocorticotropin resistance syndromes . Endocrine developmentD vol. 13 , 99 - 116 .

Savage MO, Chan LF, Afshar F, Plowman PN, Grossman AB, Storr HL ( 2008 ) . Advances in the management of paediatric Cushing's disease . HORM RES vol. 69 , ( 6 ) 327 - 333 .

Storr H, Alexandraki K, Chan L, Martin L, Monson J, Besser M, Grossman A, Savage M ( 2008 ) . Comparisons in the epidemiology and diagnostic features between paediatric and adult Cushing's disease . HORM RES vol. 70 , 24 - 25 .

Dias R, Chaplin T, Jones J, Hall C, Ston H, Patton M, Savage M, Clark A ( 2008 ) . Homozygosity mapping of possible genetic locus in small for gestational age siblings with a previously undescribed severe short stature syndrome . HORM RES vol. 70 , 110 - 110 .

Doufexis M, Storr HL, King PJ, Clark AJL ( 2007 ) . Interaction of the melanocortin 2 receptor with nucleoporin 50: evidence for a novel pathway between a G-protein-coupled receptor and the nucleus . FASEB J vol. 21 , ( 14 ) 4095 - 4100 .

Chan LF, Storr HL, Grossman AB, Savage MO ( 2007 ) . Pediatric Cushing's syndrome: Clinical features, diagnosis, and treatment . ARQ BRAS ENDOCRINOL vol. 51 , ( 8 ) 1261 - 1271 .

Storr HL, Savage MO ( 2007 ) . Adrenal disorders . Growth Disorders 2E , Taylor & Francis

Savage MO, STORR HL ( 2007 ) . Linear Growth in Adrenal Disease . Growth Disorders 2E , Editors: Kelnar, C, Savage, M, Saenger, P, Cowell, C et al. , CRC Press

Dupuis CC, Storr HL, Perry LA, Ho JTF, Ahmed L, Ong KK, Dunger DB, Monson JP et al. ( 2007 ) . Abnormal puberty in paediatric Cushing's disease: relationship with adrenal androgen, sex hormone binding globulin and gonadotrophin concentrations . CLIN ENDOCRINOL vol. 66 , ( 6 ) 838 - 843 .

Storr HL, Chan LF, Grossman AB, Savage MO ( 2007 ) . Paediatric Cushing's syndrome: epidemiology, investigation and therapeutic advances . TRENDS ENDOCRIN MET vol. 18 , ( 4 ) 167 - 174 .

Chan LF, Storr HL, Plowman PN, Perry LA, Besser GM, Grossman AB, Savage MO ( 2007 ) . Long-term anterior pituitary function in patients with paediatric Cushing's disease treated with pituitary radiotherapy . EUR J ENDOCRINOL vol. 156 , ( 4 ) 477 - 482 .

Savage MO, Storr HL, Chan LF, Grossman AB ( 2007 ) . Diagnosis and treatment of pediatric Cushing's disease . Pituitary vol. 10 , ( 4 ) 365 - 371 .

Peters CJ, Ahmed ML, Storr HL, Davies KM, Martin LJ, Allgrove J, Grossman AB, Savage MO ( 2007 ) . Factors influencing skeletal maturation at diagnosis of paediatric Cushing's disease . HORM RES vol. 68 , ( 5 ) 231 - 235 .

Greening JE, Storr HL, McKenzie SA, Davies KM, Martin L, Grossman AB, Savage MO ( 2006 ) . Linear growth and body mass index in pediatric patients with Cushing's disease or simple obesity . J ENDOCRINOL INVEST vol. 29 , ( 10 ) 885 - 887 .

Peters CJ, Storr HL, Grossman AB, Savage MO ( 2006 ) . The role of corticotrophin-releasing hormone in the diagnosis of Cushing's syndrome . EUROPEAN JOURNAL OF ENDOCRINOLOGY vol. 155 , S93 - S98 .

Camacho-Hübner C, Rose S, Preece MA, Sleevi M, Storr HL, Miraki-Moud F, Minuto F, Frystyk J et al. ( 2006 ) . Pharmacokinetic studies of recombinant human insulin-like growth factor I (rhIGF-I)/rhIGF-binding protein-3 complex administered to patients with growth hormone insensitivity syndrome . J Clin Endocrinol Metab vol. 91 , ( 4 ) 1246 - 1253 .

Storr H, Koehler K, Huebner A, Chapple JP, Clark AJL ( 2006 ) . A candidate interacting protein for the nuclear pore protein ALADIN: a potential pathogenic mechanism for the triple A syndrome . HORM RES vol. 65 , 16 - 16 .

Chan L, Storr H, Plowman PN, Perry L, Monson J, Besser GM, Grossman A, Savage M ( 2006 ) . Anterior pituitary function in the long-term follow-up of five paediatric Cushing's disease patients treated with pituitary radiotherapy . HORM RES vol. 65 , 186 - 186 .

Peters CJ, Ahmed ML, Storr HL, Davies K, Martin L, Grossman AB, Allgrove J, Savage MO ( 2006 ) . Factors influencing skeletal maturation at diagnosis of paediatric Cushing's disease . HORM RES vol. 65 , 117 - 118 .

Grossman AB, SAVAGE MO, Storr HL, Dias R, Isidori AM, Perry LA ( 2006 ) . The Discriminatory Value of the Low Dose Dexamethasone Suppression Test in Paediatric Cushing’s Syndrome . Hormone Research vol. 65 , 159 - 162 .

Dias R, Storr HL, Perry LA, Isidori AM, Grossman AB, Savage MO ( 2006 ) . The discriminatory value of the low-dose dexamethasone suppression test in the investigation of paediatric Cushing's syndrome . HORM RES vol. 65 , ( 3 ) 159 - 162 .

CLARK AJL, Storr HL, Priestley JV, Michael GJ ( 2005 ) . Identification of the sites of expression of triple a syndrome mRNA in the rat using hybridisation . Neuroscience vol. 131 , ( 1 ) 113 - 123 .

Joshi SM, Hewitt RJD, Storr HL, Rezajooi K, Ellamushi H, Grossman AB, Savage MO, Afshar F ( 2005 ) . Cushing's disease in children and adolescents: 20 years of experience in a single neurosurgical center . NEUROSURGERY vol. 57 , ( 2 ) 281 - 285 .

Storr HL, Afshar F, Matson M, Sabin I, Davies KM, Evanson J, Plowman PN, Besser GM et al. ( 2005 ) . Factors influencing cure by transsphenoidal selective adenomectomy in paediatric Cushing's disease . EUR J ENDOCRINOL vol. 152 , ( 6 ) 825 - 833 .

Davies JH, Storr HL, Davies K, Monson JP, Besser GM, Afshar F, Plowman PN, Grossman AB et al. ( 2005 ) . Final adult height and body mass index after cure of paediatric Cushing's disease . CLIN ENDOCRINOL vol. 62 , ( 4 ) 466 - 472 .

Scommegna S, Greening JP, Storr HL, Davies KM, Shaw NJ, Monson JP, Grossman AB, Savage MO ( 2005 ) . Bone mineral density at diagnosis and following successful treatment of pediatric Cushing's disease . J ENDOCRINOL INVEST vol. 28 , ( 3 ) 231 - 235 .

Storr HL, Clark AJL, Priestley JV, Michael GJ ( 2005 ) . Identification of the sites of expression of triple a syndrome mRNA in the rat using in situ hybridisation . NEUROSCIENCE vol. 131 , ( 1 ) 113 - 123 .

Storr HL, Mitchell H, Swords FM, Main KM, Hindmarsh PC, Betts PR, Shaw NJ, Johnston DI et al. ( 2004 ) . Clinical features, diagnosis, treatment and molecular studies in paediatric Cushing's syndrome due to primary nodular adrenocortical hyperplasia . CLIN ENDOCRINOL vol. 61 , ( 5 ) 553 - 559 .

Storr HL, Isidori AM, Monson JP, Besser GM, Grossman AB, Savage MO ( 2004 ) . Prepubertal Cushing's disease is more common in males, but there is no increase in severity at diagnosis . J CLIN ENDOCR METAB vol. 89 , ( 8 ) 3818 - 3820 .

Chan LF, Storr HL, Scheimberg I, Perry LA, Banerjee K, Miraki-Moud F, Camacho-Hubner C, Savage MO ( 2004 ) . Pseudo-precocious puberty caused by a juvenile granulosa cell tumor secreting androstenedione, inhibin and insulin-like growth factor-I . J PEDIATR ENDOCR MET vol. 17 , ( 4 ) 679 - 684 .

Storr HL, Plowman PN, Carroll PV, François I, Krassas GE, Afshar F, Besser GM, Grossman AB et al. ( 2003 ) . Clinical and endocrine responses to pituitary radiotherapy in pediatric Cushing's disease: an effective second-line treatment . J Clin Endocrinol Metab vol. 88 , ( 1 ) 34 - 37 .

Savage MO, Storr HL, Grossman AB, Krassas GE ( 2003 ) . Growth and growth hormone secretion in paediatric Cushing's disease . Hormones (Athens) vol. 2 , ( 2 ) 93 - 97 .

Storr HL, Barwick TD, Snodgrass GAI, Booy R, Morel Y, Reznek RH, Savage MO ( 2003 ) . Hyperplasia of adrenal rest tissue causing a retroperitoneal mass in a child with 11 beta-hydroxylase deficiency . HORM RES vol. 60 , ( 2 ) 99 - 102 .

Storr HL, Savage MO, Clark AJL ( 2002 ) . Advances in the understanding of the genetic basis of adrenal insufficiency . J Pediatr Endocrinol Metab vol. 15 Suppl 5 , 1323 - 1328 .

Holness MJ, STORR HL ( 1993 ) . Altered interactions between lipogenesis and glycogenesis in liver during fructose feeding . Biochemical Society Transactions vol. 21 , Article 2 ,