Publications: Ms Louise Metherell

Smith CJ, Abdullah MA, Hassan SS, Fauzi LS, Qamar Y, Hall CL, Maitra S, Maharaj AV et al. ( 2024 ) . 8482 Genetic Aetiology Of Primary Adrenal Insufficiency In Sudan . Journal of the Endocrine Society vol. 8 , ( Supplement_1 )

Kidd E, Meimaridou E, Williams J, Metherell LA, Walley AJ, Fairbrother UL ( 2023 ) . Choice of gDNA isolation method has a significant impact on average murine Telomere Length estimates . Preparative Biochemistry & Biotechnology vol. 54 , ( 6 ) 788 - 795 .

Patjamontri S, Lucas-Herald AK, McMillan M, Prasad R, Metherell LA, McGowan R, Tobias ES, Ahmed SF ( 2024 ) . Thioredoxin Reductase 2 Variant as a Cause of Micropenis, Undescended Testis, and Selective Glucocorticoid Deficiency . Hormone Research in Paediatrics . vol. 97 , 509 - 514 .

Smith C, Al-Salihi A, Janecke A, Steichen E, Banka S, Jackson A, Darby D, Griffin L et al. ( 2023 ) . Adrenal insufficiency can be associated with biallelic mutations in porphyria genes . Endocrine Abstracts

Smith C, Abdullah M, Hassan S, Fauzi L, Qamar Y, Hall C, Maitra S, Maharaj A et al. ( 2023 ) . Genetic aetiology of primary adrenal insufficiency in Sudan . Endocrine Abstracts

Smith C, Jackson A, Al-Salihi A, Janecke A, Steichen E, Darby D, Griffin L, Banka S et al. ( 2023 ) . SAT292 Adrenal Insufficiency Associated With Biallelic Mutations In Porphyria Genes . Journal of the Endocrine Society vol. 7 , ( Supplement_1 )

Williams JL, Smith CJ, Mastroianni G, Stewart M, Cutillas P, Tinker A, Metherell L ( 2023 ) . Abstract P2043: Loss Of Full-length Mylk3 Causes Dilated Cardiomyopathy Via A Myl2-independent Mechanism . Circulation Research vol. 133 , ( Suppl_1 )

Williams J, Stewart M, Tinker A, Cutillas P, Metherell L ( 2023 ) . BS18 Loss of full-length MYLK3 causes dilated cardiomyopathy via a MYL2-independent mechanism . Conference: Basic Sciencea258 - a259 .

Smith C, Jackson A, Al-Salihi A, Janecke A, Steichen E, Darby D, Griffin L, Banka S et al. ( 2023 ) . Adrenal Insufficiency Associated with Biallelic Mutations in Porphyria Genes . Endocrine Abstracts

Smith C, Abdullah M, Hassan S, Qamar Y, Hall C, Maitra S, Maharaj A, Mariela MRL et al. ( 2023 ) . Genetic Aetiology of Primary Adrenal Insufficiency in Sudan . Endocrine Abstracts

Smith CJ, Chan L, Metherell LA ( 2023 ) . 769 Reduced expression of PPOX, the variegate porphyria gene, causes intrinsic pathological changes to keratinocytes . Journal of Investigative Dermatology vol. 143 , ( 5 )

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 .

Smith CJ, Williams JL, Hall C, Casas J, Caley MP, O'Toole EA, Prasad R, Metherell LA ( 2023 ) . Ichthyosis linked to sphingosine 1-phosphate lyase insufficiency is due to aberrant sphingolipid and calcium regulation . Journal of Lipid Research vol. 64 , ( 4 )

Williams JL, Smith C, Hall C, Khaled Z, Maharaj A, Kwong R, Pittaway J, Casas J et al. ( 2023 ) . Elevated sphingosine-1-phosphate lyase leads to increased metabolism and reduced survival in adrenocortical carcinoma . European Journal of Endocrinology vol. 188 , ( 1 )

Corkery-Hayward M, Metherell LA ( 2023 ) . Adrenal Dysfunction in Mitochondrial Diseases . International Journal of Molecular Sciences vol. 24 , ( 2 )

Smith CJ, Chan L, Metherell LA ( 2023 ) . Reduced expression of PPOX, the variegate porphyria gene, causes intrinsic pathological changes to keratinocytes . JOURNAL OF INVESTIGATIVE DERMATOLOGY . vol. 143 , S132 - S132 .

Smith CJ, Williams JL, Hall C, Caley MP, O’Toole EA, Prasad R, Metherell LA ( 2022 ) . 181 Sphingosine 1-phosphate lyase insufficiency induced ichthyosis is due to sphingolipid imbalance, increased differentiation, and aberrant intercellular junctions . Journal of Investigative Dermatology vol. 142 , ( 12 )

Chan L, Smith C, Read J, Hall C, Maharaj A, Ramirez LM, Qamar Y, Hughes C et al. ( 2022 ) . RF33 | PSAT69 A Combined Candidate Gene/Whole Exome Sequencing Approach Permits a Rapid Genetic Diagnosis for >81% Individuals with Primary Adrenal Insufficiency . Journal of the Endocrine Society vol. 6 , ( Supplement_2 ) a140 - a141 .

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 .

Ming WKR, Williams J, Maharaj AV, Metherell L, Prasad R ( 2022 ) . SGPL1 deficiency impairs Leydig cell steroidogenesis and should be considered in 46XY individuals with DSD and adrenal insufficiency . Endocrine Abstracts

Maitra S, Smith C, Hall C, Read J, Maharaj AV, Mariela MRL, Qamar Y, Prasad R et al. ( 2022 ) . The lack of genotype: phenotype correlations in rare causes of primary adrenal insufficiency highlights the need for genetic testing . 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

Smith C, Williams J, Hall C, Caley M, O'Toole E, Prasad R, Metherell L ( 2022 ) . ESDR181 - Sphingosine 1-phosphate lyase insufficiency induced ichthyosis is due to sphingolipid imbalance, increased differentiation, and aberrant intercellular junctions .

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 .

Williams JL, Paudyal A, Stewart M, Cutillas P, Tinker A, Metherell L ( 2022 ) . Abstract P2005: Loss Of Full-length Mylk3 Causes Dilated Cardiomyopathy Via A MYL2-independent Mechanism . Circulation Research vol. 131 , ( Suppl_1 ) ap2005 - ap2005 .

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 )

Smith C, Read J, Hall C, Maharaj A, Marroquin RL, Qamar Y, Hughes C, Clark A et al. ( 2022 ) . A rapid genetic diagnosis for >80% individuals with non-CAH Primary Adrenal Insufficiency is achievable by candidate gene sequencing combined with WES . Endocrine Abstracts

Williams J, Smith C, Hall C, Khaled Z, Maharaj A, Kwong R, Pittaway J, Casas J et al. ( 2022 ) . Elevated SGPL1 expression is associated with increased metabolic rate in cells and reduced survival in individuals with adrenocortical carcinoma . Endocrine Abstracts

Ali N, Maharaj AV, Buonocore F, Achermann JC, Metherell LA ( 2022 ) . Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case Report . Frontiers in Endocrinology vol. 13 ,

Maharaj A, Güran T, Buonocore F, Achermann JC, Metherell L, Prasad R, Çetinkaya S ( 2022 ) . Insights From Long-term Follow-up of a Girl With Adrenal Insufficiency and Sphingosine-1-Phosphate Lyase Deficiency . Journal of the Endocrine Society vol. 6 , ( 5 )

Musa SA, Abdullah MA, Hassan SS, Qamar Y, Hall C, Maitra S, Maharaj AV, Ramirez LMM et al. ( 2022 ) . Clinical and Genetic characterization of primary adrenal insufficiency in Sudanese children . HORMONE RESEARCH IN PAEDIATRICS . vol. 95 , 114 - 115 .

Smith CJ, Williams JL, Hall C, Caley MP, O'Toole EA, Prasad R, Metherell LA ( 2022 ) . Sphingosine 1-phosphate lyase insufficiency induced ichthyosis is due to sphingolipid imbalance, increased differentiation, and aberrant intercellular junctions . JOURNAL OF INVESTIGATIVE DERMATOLOGY . vol. 142 , S211 - S211 .

Farooqi N, Metherell LA, Schrauwen I, Acharya A, Khan Q, Nouel Saied LM, Ali Y, El-Serehy HA et al. ( 2021 ) . Exome sequencing identifies a novel fbn1 variant in a pakistani family with marfan syndrome that includes left ventricle diastolic dysfunction . Genes vol. 12 , ( 12 )

Williams J, paudyal A, Stewart M, Cutillas P, Cox RD, Tinker A, Metherell L ( 2021 ) . Abstract 14037: A Shorter Myosin Light Chain Kinase 3 Isoform Maintains Myosin Light Chain 2 Phosphorylation but Does Not Attenuate the Dilated Cardiomyopathy Seen in C57BL/6N Mice . Circulation vol. 144 , ( Suppl_1 ) a14037 - a14037 .

Cottrell E, Maharaj A, Williams J, Chatterjee S, Cirillo G, del GEM, Festa A, Palumbo S et al. ( 2021 ) . Growth hormone receptor 6Ω pseudoexon activation: a novel cause of severe growth hormone insensitivity . 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 .

Smith C, Maharaj A, Qamar Y, Read J, Williams J, Marimuthu V, Chan L, Metherell L ( 2021 ) . In vitro splicing assay proves the pathogenicity of intronic variants in MRAP . Endocrine Abstracts

Williams J, Smith C, Maharaj A, Kwong R, Hall C, Metherell L, Prasad R ( 2021 ) . SGPL1 regulates expression of electron transport chain components to modulate cellular metabolism in the adrenal gland . Endocrine Abstracts

Smith CJ, Williams JL, Caley MP, O’Toole EA, Prasad R, Metherell LA ( 2021 ) . 099 Ichthyosis associated with sphingosine 1-phosphate lyase deficiency is due to aberrant calcium and sphingolipid regulation . Journal of Investigative Dermatology vol. 141 , ( 10 ) s165 - s165 .

Maudhoo A, Maharaj A, Buonocore F, Martos-Moreno GA, Argente J, Achermann JC, Chan LF, Metherell LA ( 2021 ) . Missplicing due to a synonymous, T96= exonic substitution in the T-box transcription factor TBX19 resulting in isolated ACTH deficiency . Endocrinology Diabetes and Metabolism Case Reports vol. 2021 , 21 - 0128 .

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

Buonocore F, Maharaj A, Qamar Y, Koehler K, Suntharalingham JP, Chan LF, Ferraz-De-Souza B, Hughes CR et al. ( 2021 ) . Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK . Journal of the Endocrine Society vol. 5 , ( 8 )

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 .

Williams JL, Hall CL, Meimaridou E, Metherell LA ( 2021 ) . Loss of Nnt Increases Expression of Oxidative Phosphorylation Complexes in C57BL/6J Hearts . International Journal of Molecular Sciences vol. 22 , ( 11 )

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 .

Smith C, Maharaj AV, Qamar Y, Read J, Williams J, Chan L, Marimuthu V, Metherell L ( 2021 ) . In Vitro Splicing Assay Proves the Pathogenicity of Intronic Variants in MRAP . Journal of the Endocrine Society vol. 5 , ( Suppl 1 ) a85 - a86 .

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 .

Kwong RMW, Maharaj AV, Metherell L, Prasad R ( 2021 ) . Sphingosine 1- Phosphate Lyase Insufficiency Syndrome (SPLIS); A Role in Multiple Endocrinopathies . Journal of the Endocrine Society vol. 5 , ( Suppl 1 ) a662 - a662 .

Buonocore F, Maharaj A, Qamar Y, Koehler K, Suntharalingham JP, Chan LF, Ferraz-de-Souza B, Hughes CR et al. ( 2021 ) . Genetic analysis of paediatric primary adrenal insufficiency of unknown aetiology over 25 years . HORMONE RESEARCH IN PAEDIATRICS . vol. 94 , 187 - 188 .

Smith CJ, Williams JL, Caley MP, O'Toole EA, Prasad R, Metherell LA ( 2021 ) . Ichthyosis associated with sphingosine 1-phosphate lyase deficiency is due to aberrant calcium and sphingolipid regulation . JOURNAL OF INVESTIGATIVE DERMATOLOGY . vol. 141 , S165 - S165 .

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 .

Kwong R, Maharaj A, Metherell L, Prasad R ( 2021 ) . Sphingosine 1-phosphate lyase insufficiency syndrome (SPLIS) as a cause of primary adrenal insufficiency and primary hypogonadism . HORMONE RESEARCH IN PAEDIATRICS . vol. 94 , 108 - 108 .

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 .

Maharaj A, Williams J, Bradshaw T, Güran T, Braslavsky D, Casas J, Chan LF, Metherell LA et al. ( 2020 ) . Sphingosine-1-phosphate lyase (SGPL1) deficiency is associated with mitochondrial dysfunction . The Journal of Steroid Biochemistry and Molecular Biology vol. 202 ,

Maharaj A, Theodorou D, Banerjee I, Metherell LA, Prasad R, Wallace D ( 2020 ) . A Sphingosine-1-Phosphate Lyase Mutation Associated With Congenital Nephrotic Syndrome and Multiple Endocrinopathy . Frontiers in Pediatrics vol. 8 ,

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 .

Williams JL, Paudyal A, Awad S, Nicholson J, Grzesik D, Botta J, Meimaridou E, Maharaj AV et al. ( 2020 ) . Mylk3 null C57BL/6N mice develop cardiomyopathy, whereas Nnt null C57BL/6J mice do not . Life Science Alliance vol. 3 , ( 4 )

Kallali W, Gray E, Mehdi MZ, Lindsay R, Metherell LA, Buonocore F, Suntharalingham JP, Achermann JC et al. ( 2020 ) . Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: The importance of early diagnosis . European Journal of Endocrinology vol. 182 , ( 3 ) K15 - K24 .

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 .

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

Qamar Y, Maharaj A, Chan L, AbdulBagi S, Abdullah M, Metherell L ( 2019 ) . Rare causes of primary adrenal insufficiency (PAI) in children from Sudan . Endocrine Abstracts

Maharaj A, Williams J, Guran T, Braslavsky D, Casas J, Metherell L, Prasad R ( 2019 ) . SGPL1 deficiency leads to accumulation of sphingolipid species and downregulation of key enzymes within the steroidogenic 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

Qamar Y, Maharaj A, Chan L, Deeb A, Metherell L ( 2019 ) . Splice-site mutations in the melanocortin-2 receptor accessory protein that lead to early-onset familial glucocorticoid deficiency type 2 . Endocrine Abstracts

Smith C, Maharaj A, Prasad R, Hughes C, Qamar Y, Clark A, Chan L, Metherell L ( 2019 ) . Twenty-five years of familial glucocorticoid deficiency: genotypic and phenotypic variability . Endocrine Abstracts

SR H, R O, A P, V C, A F, G R-B, LA M, CP C et al. ( 2019 ) . HS6ST1 insufficiency causes self-limited delayed puberty in contrast with other GnRH deficiency genes .

Maharaj A, Meimaridou E, Williams J, Guran T, Braslavsky D, Metherell L, Prasad R ( 2019 ) . SGPL1 deficiency leads to downregulation of key enzymes within the steroidogenic pathway . HORMONE RESEARCH IN PAEDIATRICS . Conference: The 58th Annual ESPE Meeting vol. 91 , 61 - 61 .

Novoselova TV, King PJ, Guasti L, Metherell LA, Clark AJL, Chan LF ( 2019 ) . ACTH signalling and adrenal development: lessons from mouse models . Endocrine Connections vol. -1 , ( aop ) r122 - r130 .

Maharaj A, Maudhoo A, Chan LF, Novoselova T, Prasad R, Metherell LA, Guasti L ( 2019 ) . Isolated glucocorticoid deficiency: Genetic causes and animal models . Journal of Steroid Biochemistry and Molecular Biology vol. 189 , 73 - 80 .

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 .

Kallali W, Gray E, Mehdi MZ, Lindsay R, Metherell L, Buonocore F, Achermann J, Donaldson M ( 2019 ) . CYP11A1 (side-chain cleavage enzyme) defect in three brothers causing glucocorticoid and mineralocorticoid deficiency and development of testicular adrenal rest testicular tumour . HORMONE RESEARCH IN PAEDIATRICS . vol. 91 , 360 - 360 .

Smith CJ, Maharaj AV, Prasad R, Hughes CR, Clark AJL, Chan LF, Metherell LA ( 2019 ) . Genetics of Familial Glucocorticoid Deficiency over the Decades: Phenotypic Variability and Associated Features . HORMONE RESEARCH IN PAEDIATRICS . vol. 91 , 108 - 109 .

Settas N, Persky R, Faucz FR, Sheanon N, Voutetakis A, Lodish M, Metherell LA, Stratakis CA ( 2018 ) . SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency . The Journal of Clinical Endocrinology & Metabolism vol. 104 , ( 5 ) 1484 - 1490 .

Maudhoo A, Maharaj A, Buonocore F, Martos-Moreno GA, Argente J, Achermann J, Chan L, Metherell L ( 2018 ) . Missplicing due to a silent exonic substitution in the T-box transcription factor TBX19 resulting in Isolated ACTH deficiency . Endocrine Abstracts

Maharaj A, Buonocore F, Meimaridou E, Ruiz-Babot G, Guasti L, Peng H-M, Capper CP, Burgos-Tirado N et al. ( 2018 ) . Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing . Journal of the Endocrine Society vol. 3 , ( 1 ) 201 - 221 .

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

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

Prasad R, Maharaj A, Bradshaw T, Williams J, Guran T, Braslavsky D, Brugger B, Metherell L ( 2018 ) . Sphingosine-1-phosphate lyase (SGPL1) deficiency is associated with mitochondrial dysfunction . 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 .

Maharaj A, Wallace D, Banerjee I, Prasad R, Metherell L ( 2018 ) . SGPL1 Missense Mutation in an Infant with Primary Adrenal Insufficiency (PAI), Congenital Nephrotic Syndrome, Primary Hypothyroidism and Gonadal Failure . HORMONE RESEARCH IN PAEDIATRICS . Conference: 57th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE) from: 27/09/2018 to: 29/09/2018 , vol. 90 , 477 - 478 .

Maharaj A, Bradshaw T, Williams J, Guran T, Braslavsky D, Bruegger B, Metherell L, Prasad R ( 2018 ) . Sphingosine-1-Phosphate Lyase (SGPL1) Deficiency Is Associated with Mitochondrial Dysfunction . 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 , 78 - 78 .

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 .

Howard SR, Oleari R, Poliandri A, Chantzara V, Fantin A, Ruiz-Babot G, Metherell LA, Cabrera CP et al. ( 2018 ) . HS6ST1 Insufficiency Causes Self-Limited Delayed Puberty in Contrast With Other GnRH Deficiency Genes . The Journal of Clinical Endocrinology & Metabolism vol. 103 , ( 9 ) 3420 - 3429 .

Novoselova TV, Hussain M, King PJ, Guasti L, Metherell LA, Charalambous M, Clark AJL, Chan LF ( 2018 ) . MRAP deficiency impairs adrenal progenitor cell differentiation and gland zonation . The FASEB Journal vol. 32 , ( 11 ) 6186 - 6196 .

Klammt J, Neumann D, Gevers EF, Andrew SF, Schwartz ID, Rockstroh D, Colombo R, Sanchez MA et al. ( 2018 ) . Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation . Nature Communications vol. 9 , ( 1 )

Chortis V, Taylor A, Doig C, Walsh M, Meimaridou E, Jenkinson C, Rodriguez-Blanco G, Ronchi C et al. ( 2018 ) . Nicotinamide Nucleotide Transhydrogenase as a novel treatment target in adrenocortical carcinoma . Endocrine Abstracts

Chortis V, Taylor AE, Doig CL, Walsh MD, Meimaridou E, Jenkinson C, Rodriguez-Blanco G, Ronchi CL et al. ( 2018 ) . Nicotinamide Nucleotide Transhydrogenase as a Novel Treatment Target in Adrenocortical Carcinoma . Endocrinology vol. 159 , ( 8 ) 2836 - 2849 .

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 .

Andrews E, Taylor C, Metherell L, Buonocore F, Achermann J, Maharaj A ( 2017 ) . An unusual presentation of congenital lipoid adrenal hyperplasia and novel STAR mutation in two siblings . 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

Chortis V, Taylor AE, Doig CL, Meimaridou E, Walsh M, Jenkinson C, Rodriguez-Blanco G, Jafri A et al. ( 2017 ) . Antioxidant pathway targeting as a therapeutic approach in adrenocortical carcinoma . Endocrine Abstracts

Maharaj A, Buonocore F, Meimaridou E, Ruiz-Babot G, Guasti L, Peng H-M, Capper C, Prasad R et al. ( 2017 ) . Predicted benign and silent SNPs in CYP11A1 cause primary adrenal insufficiency through missplicing . Endocrine Abstracts

Meimaridou E, Goldsworthy M, Chortis V, Fragouli E, Foster PA, Arlt W, Cox R, Metherell LA ( 2017 ) . NNT is a key regulator of adrenal redox homeostasis and steroidogenesis in male mice . Journal of Endocrinology vol. 236 , ( 1 ) 13 - 28 .

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 .

Salvatori R, Radian S, Diekmann Y, Iacovazzo D, David A, Gabrovska P, Grassi G, Bussell A-M et al. ( 2017 ) . In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism . Eur J Endocrinol vol. 177 , ( 3 ) 257 - 266 .

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 .

Vairamani K, Merjaneh L, Casano-Sancho P, Sanli ME, David A, Metherell LA, Savage MO, Del Pozo JS et al. ( 2017 ) . Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency . J Endocr Soc vol. 1 , ( 4 ) 345 - 358 .

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

Vairamani K, Merjaneh L, Casano-Sancho P, Sanli ME, David A, Metherell LA, Savage MO, Del Pozo JS et al. ( 2017 ) . NOVEL DOMINANT-NEGATIVE GH RECEPTOR MUTATIONS EXPANDS THE SPECTRUM OF GHI AND IGF-I DEFICIENCY . HORMONE RESEARCH IN PAEDIATRICS . vol. 88 , 32 - 32 .

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 .

METHERELL LA ( 2016 ) . Cytochrome p450 side chain cleavage enzyme (CYP11A1) mutations: Phenotypic variability and identification of p.E314K as a recurrent, pathogenic variant . Conference: 44th Meeting of the British Society for Paediatric Endocrinology and Diabetes

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

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 )

Metherell L, Guerra-Assuncao JA, Sternberg M, David A . Structural analysis of nicotinamide nucleotide transhydrogenase (NNT) genetic variants causing adrenal disorders . Endocrine Abstracts .

Metherell LA, Guerra‐Assunção JA, Sternberg MJ, David A ( 2016 ) . Three‐Dimensional Model of Human Nicotinamide Nucleotide Transhydrogenase (NNT) and Sequence‐Structure Analysis of its Disease‐Causing Variations . Human Mutation vol. 37 , ( 10 ) 1074 - 1084 .

Chortis V, Taylor AE, Doig CL, Meimaridou E, Metherell LA, Arlt W, Foster PA . Stressed to death - antioxidant pathway targeting as a novel therapeutic approach in adrenocortical carcinoma . 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 ,

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 .

Tsai SL, Green J, Metherell LA, Curtis F, Fernandez B, Healey A, Curtis J ( 2015 ) . Primary Adrenocortical Insufficiency Case Series: Genetic Etiologies More Common than Expected . Hormone Research in Paediatrics vol. 85 , ( 1 ) 35 - 42 .

Pease-Gevers E, Klammt J, Andrew S, Kowalczyk J, Metherell L, Neumann D, Dattani M, Hwa V ( 2015 ) . Dominant negative STAT5B variants in two families with mild GH insensitivity and eczema . Endocrine Abstracts

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

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

Buonocore F, Chan L, Achermann J, Metherell L ( 2015 ) . Molecular diagnosis of patients with adrenal insufficiency using a targeted custom Haloplex next-generation sequencing panel . 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

Chortis V, Taylor A, Doig C, Meimaridou E, Metherell L, Arlt W, Foster P ( 2015 ) . Nicotinamide nucleotide transhydrogenase (NNT) as a novel molecular target in adrenocortical carcinoma - impact of NNT knockdown on adrenocortical cell proliferation, redox balance and steroidogenesis . Endocrine Abstracts

Meimaridou E, Goldsworthy M, Chortis V, Foster P, Arlt W, Cox R, Metherell L ( 2015 ) . RNA-sequencing of mouse adrenals reveals the pathways perturbed by loss of nicotinamide nucleotide transhydrogenase . Endocrine Abstracts

Chan LF, Campbell DC, Novoselova TV, Clark AJL, Metherell LA ( 2015 ) . Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children . Frontiers in Endocrinology vol. 6 ,

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 .

Storr HL, Dunkel L, Kowalczyk J, Savage MO, Metherell LA ( 2015 ) . Genetic characterisation of a cohort of children clinically labelled as GH or IGF1 insensitive: diagnostic value of serum IGF1 and height at presentation . Eur J Endocrinol vol. 172 , ( 2 ) 151 - 161 .

Novoselova TV, Rath SR, Carpenter K, Pachter N, Dickinson JE, Price G, Chan LF, Choong CS et al. ( 2015 ) . NNT Pseudoexon Activation as a Novel Mechanism for Disease in Two Siblings With Familial Glucocorticoid Deficiency . JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM vol. 100 , ( 2 ) E350 - E354 .

Meimaridou E, Kowalczyk J, Metherell LA ( 2014 ) . Molecular Genetics of Inherited Glucocorticoid Deficiency . Encyclopedia of Life Sciences , Wiley

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

Novoselova T, Spoudeas H, Huebner A, Cheetham T, Chan L, Metherell L ( 2014 ) . Varied clinical presentations of six patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc . Endocrine Abstracts

Chan L, Novoselova T, Rath S, Carpenter K, Pachter N, Price G, Dickinson J, Choong C et al. ( 2014 ) . cDNA analysis reveals NNT pseudoexon activation in two siblings with familial glucocorticoid deficiency . 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

Högler W, Martin DD, Crabtree N, Nightingale P, Tomlinson J, Metherell L, Rosenfeld R, Hwa V et al. ( 2014 ) . IGFALS gene dosage effects on serum IGF-I and glucose metabolism, body composition, bone growth in length and width, and the pharmacokinetics of recombinant human IGF-I administration . J Clin Endocrinol Metab vol. 99 , ( 4 ) E703 - E712 .

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

Poukoulidou T, Kowalczyk J, Metherell L, De Schepper J, Maes M ( 2014 ) . A Novel Homozygous Mutation of the IGFALS Gene in a Female Adolescent: Indirect Evidence for a Contributing Role of the Circulating IGF-I Pool in the Pubertal Growth Spurt . HORMONE RESEARCH IN PAEDIATRICS vol. 81 , ( 6 ) 422 - 427 .

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 ,

Meimaridou E, Hughes CR, Kowalczyk J, Guasti L, Chapple JP, King PJ, Chan LF, Clark AJL et al. ( 2013 ) . Familial glucocorticoid deficiency: New genes and mechanisms . Molecular and Cellular Endocrinology vol. 371 , ( 1-2 ) 195 - 200 .

Meimaridou E, Hughes CR, Kowalczyk J, Guasti L, Chapple JP, King PJ, Chan LF, Clark AJL et al. ( 2013 ) . Familial glucocorticoid deficiency: New genes and mechanisms . Mol Cell Endocrinol vol. 371 , ( 1-2 ) 195 - 200 .

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 .

Meimaridou E, Hughes CR, Kowalczyk J, Chan LF, Clark AJL, Metherell LA ( 2013 ) . ACTH resistance: genes and mechanisms . Endocr Dev vol. 24 , 57 - 66 .

Yates R, Katugampola H, Cavlan D, Cogger K, Meimaridou E, Hughes C, Metherell L, Guasti L et al. ( 2013 ) . Adrenocortical development, maintenance, and disease . Curr Top Dev Biol vol. 106 , 239 - 312 .

Habeb AM, Hughes CR, Al-Arabi R, Al-Muhamadi A, Clark AJL, Metherell LA ( 2013 ) . Familial glucocorticoid deficiency: a diagnostic challenge during acute illness . EUROPEAN JOURNAL OF PEDIATRICS vol. 172 , ( 10 ) 1407 - 1410 .

Kowalczyk⁎ J, Meimaridou E, Guasti L, Lei XG, Clark AJL, Metherell et al LA ( 2012 ) . A homozygous glutathione peroxidase 1 mutation, p. Arg130-Leu133del, in a patient with familial glucocorticoid deficiency . Free Radical Biology and Medicine . vol. 53 , s220 - s221 .

Meimaridou E, Kowalczyk J, Guasti L, Hughes CR, Wagner F, Frommolt P, Nürnberg P, Mann NP et al. ( 2012 ) . Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency . Nat Genet vol. 44 , ( 7 ) 740 - 742 .

Turan S, Hughes C, Atay Z, Guran T, Haliloglu B, Clark AJL, Bereket A, Metherell LA ( 2012 ) . An atypical case of familial glucocorticoid deficiency without pigmentation caused by coexistent homozygous mutations in MC2R (T152K) and MC1R (R160W) . J Clin Endocrinol Metab vol. 97 , ( 5 ) E771 - E774 .

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

Hughes CR, Guasti L, Meimaridou E, Chuang C-H, Schimenti JC, King PJ, Costigan C, Clark AJL et al. ( 2012 ) . <i>MCM4</i> mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans . JOURNAL OF CLINICAL INVESTIGATION vol. 122 , ( 3 ) 814 - 820 .

Jain V, Metherell LA, David A, Sharma R, Sharma PK, Clark AJL, Chan LF ( 2011 ) . Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein . Eur J Endocrinol vol. 165 , ( 6 ) 987 - 991 .

McEachern R, Drouin J, Metherell L, Huot C, Van Vliet G, Deal C ( 2011 ) . Severe cortisol deficiency associated with reversible growth hormone deficiency in two infants: what is the link? . J Clin Endocrinol Metab vol. 96 , ( 9 ) 2670 - 2674 .

David A, Hwa V, Metherell LA, Netchine I, Camacho-Hübner C, Clark AJL, Rosenfeld RG, Savage MO ( 2011 ) . Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity . Endocr Rev vol. 32 , ( 4 ) 472 - 497 .

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

Hughes C, Metherell L, Clark AJL ( 2011 ) . Familial glucocorticoid deficiency . Oxford Textbook of Endocrinology and Diabetes , Oxford University Press (OUP)

Chan LF, Metherell LA, Clark AJL ( 2011 ) . Effects of melanocortins on adrenal gland physiology . EUR J PHARMACOL vol. 660 , ( 1 ) 171 - 180 .

Savage MO, Hwa V, David A, Rosenfeld RG, Metherell LA ( 2011 ) . Genetic Defects in the Growth Hormone-IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear Growth . Front Endocrinol (Lausanne) vol. 2 ,

Hughes CR, Chung TT, Habeb AM, Kelestimur F, Clark AJL, Metherell LA ( 2010 ) . Missense mutations in the melanocortin 2 receptor accessory protein that lead to late onset familial glucocorticoid deficiency type 2 . J Clin Endocrinol Metab vol. 95 , ( 7 ) 3497 - 3501 .

David A, Srirangalingam U, Metherell LA, Khoo B, Clark AJL ( 2010 ) . Repair of aberrant splicing in growth hormone receptor by antisense oligonucleotides targeting the splice sites of a pseudoexon . J Clin Endocrinol Metab vol. 95 , ( 7 ) 3542 - 3546 .

Hughes C, Chung TT, Clark AJ, Metherell L ( 2010 ) . FUNCTIONAL CHARACTERISATION OF A MISSENSE MUTATION OF MRAP LEADING TO FAMILIAL GLUCOCORTICOID DEFICIENCY . IRISH J MED SCI vol. 179 , S263 - S263 .

David A, Srirangalingam U, Metherell LA, Khoo B, Clark AJL ( 2010 ) . Repair of Aberrant Splicing in Growth Hormone Receptor by Antisense Oligonucleotides Targeting the Splice Sites of a Pseudoexon . Endocrinology vol. 24 , ( 6 ) 1305 - 1305 .

Moyes VJ, Walker DM, Owusu-Antwi S, Maher KT, Metherell L, Akker SA, Monson JP, Clark AJL et al. ( 2010 ) . d3-GHR genotype does not explain heterogeneity in GH responsiveness in hypopituitary adults . Clin Endocrinol (Oxf) vol. 72 , ( 6 ) 807 - 813 .

Chung T-TLL, Chan LF, Metherell LA, Clark AJL ( 2010 ) . Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2 . Clin Endocrinol (Oxf) vol. 72 , ( 5 ) 589 - 594 .

Hughes CR, Chung TT, Habeb AM, Kelestimur F, Clark AJL, Metherell LA ( 2010 ) . Missense Mutations in the Melanocortin 2 Receptor Accessory Protein That Lead to Late Onset Familial Glucocorticoid Deficiency Type 2 . Endocrinology vol. 151 , ( 6 ) 2957 - 2958 .

Dias RP, Chan LF, Metherell LA, Pearce SHS, Clark AJL ( 2010 ) . Isolated Addison's disease is unlikely to be caused by mutations in MC2R, MRAP or STAR, three genes responsible for familial glucocorticoid deficiency . Eur J Endocrinol vol. 162 , ( 2 ) 357 - 359 .

David A, Rose SJ, Miraki-Moud F, Metherell LA, Savage MO, Clark AJL, Camacho-Hübner C ( 2010 ) . Acid-labile subunit deficiency and growth failure: description of two novel cases . Horm Res Paediatr vol. 73 , ( 5 ) 328 - 334 .

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 .

David A, Miraki-Moud F, Shaw NJ, Savage MO, Clark AJL, Metherell LA ( 2010 ) . Identification and characterisation of a novel GHR defect disrupting the polypyrimidine tract and resulting in GH insensitivity . Eur J Endocrinol vol. 162 , ( 1 ) 37 - 42 .

Metherell LA, Naville D, Halaby G, Begeot M, Huebner A, Nürnberg G, Nürnberg P, Green J et al. ( 2009 ) . Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency . J Clin Endocrinol Metab vol. 94 , ( 10 ) 3865 - 3871 .

Chan LF, Metherell LA, Krude H, Ball C, O'Riordan SMP, Costigan C, Lynch SA, Savage MO et al. ( 2009 ) . Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency . Clin Endocrinol (Oxf) vol. 71 , ( 2 ) 171 - 175 .

Milward A, Metherell L, Maamra M, Barahona MJ, Wilkinson IR, Camacho-Hübner C, Savage MO, Bidlingmaier CM et al. ( 2009 ) . Growth hormone (GH) insensitivity syndrome due to a GH receptor truncated after box1, resulting in isolated failure of STAT 5 signal transduction (Journal of Clinical Endocrinology and Metabolism (2004) 89 (1259-1266)) . Journal of Clinical Endocrinology and Metabolism vol. 94 , ( 7 )

Chan LF, Webb TR, Chung T-T, Meimaridou E, Cooray SN, Guasti L, Chapple JP, Egertová M et al. ( 2009 ) . MRAP and MRAP2 are bidirectional regulators of the melanocortin receptor family . Proc Natl Acad Sci U S A vol. 106 , ( 15 ) 6146 - 6151 .

Chan LF, Chung T-T, Massoud AF, Metherell LA, Clark AJL ( 2009 ) . Functional consequence of a novel Y129C mutation in a patient with two contradictory melanocortin-2-receptor mutations . Eur J Endocrinol vol. 160 , ( 4 ) 705 - 710 .

Clark AJL, Chan LF, Chung T-T, Metherell LA ( 2009 ) . The genetics of familial glucocorticoid deficiency . Best Pract Res Clin Endocrinol Metab vol. 23 , ( 2 ) 159 - 165 .

Cooray SN, Chan L, Webb TR, Metherell L, Clark AJL ( 2009 ) . Accessory proteins are vital for the functional expression of certain G protein-coupled receptors . Mol Cell Endocrinol vol. 300 , ( 1-2 ) 17 - 24 .

Chan LF, David A, Jain V, Clark AJL, Metherell LA ( 2009 ) . A novel splice mutation (IVSds3+3insTA) in the melanocortin 2 receptor accessory protein that leads to skipping of exon 3 . HORM RES vol. 72 , 70 - 70 .

Hughes CR, Chung TT, Habeb AM, Clark AJ, Metherell LA ( 2009 ) . Functional characterisation of a missense mutation (p.Y59D) of MRAP which leads to familial glucocorticoid deficiency type 2 . HORM RES vol. 72 , 42 - 42 .

Metherell LA, Chung TT, Chan LF, Clark AJL ( 2009 ) . Genotype:phenotype relationships in familial glucocorticoid deficiency types 1 and 2 . HORM RES vol. 72 , 211 - 211 .

Milward A, Metherell L, Maamra M, Barahona MJ, Wilkinson IR, Camacho-Huebner C, Savage MO, Bidlingmaier CM et al. ( 2009 ) . Growth Hormone (GH) Insensitivity Syndrome due to a GH Receptor Truncated after Box1, Resulting in Isolated Failure of STAT 5 Signal Transduction (vol 89, pg 1259, 2004) . JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM vol. 94 , ( 7 ) 2674 - 2674 .

Savage MO, David A, Camacho-Hubner C, Metherell LA, Clark AJL ( 2009 ) . Phenotypic aspects of growth hormone- and IGF-I-resistant syndromes . Endocr Dev vol. 14 , 143 - 150 .

Chung TT, Webb TR, Chan LF, Cooray SN, Metherell LA, King PJ, Chapple JP, Clark AJL ( 2008 ) . The majority of adrenocorticotropin receptor (melanocortin 2 receptor) mutations found in familial glucocorticoid deficiency type 1 lead to defective trafficking of the receptor to the cell surface . J Clin Endocrinol Metab vol. 93 , ( 12 ) 4948 - 4954 .

Camacho-Hübner C, David A, Rose S, Metherell L, Clark A, Savage MO ( 2008 ) . OR9,3 Acid-labile subunit gene mutations: clinical, biochemical and molecular study in two unrelated families . Growth Hormone & IGF Research vol. 18 ,

David A, Rose S, Miraki-Moud F, Metherell L, Clark A, Savage M, Camacho-Hubner C ( 2008 ) . Acid-labile subunit gene mutations: Clinical, biochemical and molecular study in two unrelated families . HORM RES vol. 70 , 31 - 31 .

Cooray SN, Chan L, Metherell L, Storr H, Clark AJL ( 2008 ) . Adrenocorticotropin resistance syndromes . Endocr Dev vol. 13 , 99 - 116 .

Chan LF, Clark AJL, Metherell LA ( 2008 ) . Familial glucocorticoid deficiency: advances in the molecular understanding of ACTH action . Horm Res vol. 69 , ( 2 ) 75 - 82 .

Chan L, Chung TT, Massoud A, Metherell L, Clark A ( 2008 ) . Functional consequence of two opposing MC2R mutations in a child with severe FGD phenotype . HORM RES vol. 70 , 23 - 23 .

Rumié H, Metherell LA, Clark AJL, Beauloye V, Maes M ( 2007 ) . Clinical and biological phenotype of a patient with familial glucocorticoid deficiency type 2 caused by a mutation of melanocortin 2 receptor accessory protein . Eur J Endocrinol vol. 157 , ( 4 ) 539 - 542 .

Vallette-Kasic S, Couture C, Balsalobre A, Gauthier Y, Metherell L, Dattani M, Drouin J ( 2007 ) . The TPIT gene mutation M86R associated with isolated adrenocorticotropin deficiency interferes with protein: Protein interactions . J CLIN ENDOCR METAB vol. 92 , ( 10 ) 3991 - 3999 .

Savage MO, Camacho-Hübner C, David A, Metherell LA, Hwa V, Rosenfeld RG, Clark AJL ( 2007 ) . Idiopathic short stature: will genetics influence the choice between GH and IGF-I therapy? . Eur J Endocrinol vol. 157 Suppl 1 , S33 - S37 .

Keegan CE, Hutz JE, Krause AS, Koehler K, Metherell LA, Boikos S, Stergiopoulos S, Clark AJL et al. ( 2007 ) . Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes . CLIN ENDOCRINOL vol. 67 , ( 2 ) 168 - 174 .

David A, Camacho-Hübner C, Bhangoo A, Rose SJ, Miraki-Moud F, Akker SA, Butler GE, Ten S et al. ( 2007 ) . An intronic growth hormone receptor mutation causing activation of a pseudoexon is associated with a broad spectrum of growth hormone insensitivity phenotypes . J Clin Endocrinol Metab vol. 92 , ( 2 ) 655 - 659 .

Lin L, Hindmarsh PC, Metherell LA, Alzyoud M, Al-Ali M, Brain CE, Clark AJL, Dattani MT et al. ( 2007 ) . Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia . Clin Endocrinol (Oxf) vol. 66 , ( 2 ) 205 - 210 .

Hwa V, Camacho-Hübner C, Little BM, David A, Metherell LA, El-Khatib N, Savage MO, Rosenfeld RG ( 2007 ) . Growth hormone insensitivity and severe short stature in siblings: a novel mutation at the exon 13-intron 13 junction of the STAT5b gene . Horm Res vol. 68 , ( 5 ) 218 - 224 .

Metherell LA, Chan LF, Clark AJL ( 2006 ) . The genetics of ACTH resistance syndromes . Best Pract Res Clin Endocrinol Metab vol. 20 , ( 4 ) 547 - 560 .

Savage MO, Attie KM, David A, Metherell LA, Clark AJL, Camacho-Hübner C ( 2006 ) . Endocrine assessment, molecular characterization and treatment of growth hormone insensitivity disorders . Nat Clin Pract Endocrinol Metab vol. 2 , ( 7 ) 395 - 407 .

Clark AJL, Metherell LA ( 2006 ) . Mechanisms of disease: the adrenocorticotropin receptor and disease . Nat Clin Pract Endocrinol Metab vol. 2 , ( 5 ) 282 - 290 .

Maamra M, Milward A, Esfahani HZ, Abbott LP, Metherell LA, Savage MO, Clark AJL, Ross RJM ( 2006 ) . A 36 residues insertion in the dimerization domain of the growth hormone receptor results in defective trafficking rather than impaired signaling . J ENDOCRINOL vol. 188 , ( 2 ) 251 - 261 .

Clark AJL, Metherell LA, Cheetham ME, Huebner A ( 2005 ) . Inherited ACTH insensitivity illuminates the mechanisms of ACTH action . Trends Endocrinol Metab vol. 16 , ( 10 ) 451 - 457 .

David A, Metherell LA, Clark AJL, Camacho-Hubner C, Savage MO ( 2005 ) . Diagnostic and therapeutic advances in growth hormone insensitivity . ENDOCRIN METAB CLIN vol. 34 , ( 3 ) 581 - + .

Clark JLA, Metherell LA, Naville D, Begeot M, Huebner A ( 2005 ) . Genetics of ACTH insensitivity syndromes . Ann Endocrinol (Paris) . vol. 66 , 247 - 249 .

Metherell LA, Chapple JP, Cooray S, David A, Becker C, Rüschendorf F, Naville D, Begeot M et al. ( 2005 ) . Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2 . Nat Genet vol. 37 , ( 2 ) 166 - 170 .

Hui HNT, Metherell LA, Ng KL, Savage MO, Camacho-Hubner C, Clark AJL ( 2005 ) . Novel growth hormone receptor mutation in a Chinese patient with Laron syndrome . J PEDIATR ENDOCR MET vol. 18 , ( 2 ) 209 - 213 .

CLARK AJL, Metherell LA, Huebner A, Begeot M, Naville D ( 2005 ) . Genetics of ACTH insensitivity syndromes . Annals of Endocrinology vol. 66 , 247 - 249 .

Savage MO, Camacho-Hubner C, Walenkamp MJ, Metherell LA, David A, Pereira LA, Denley A, Clark AJL et al. ( 2005 ) . IGF-I deficiency: Lessons from human mutations . Deciphering Growth . Editors: Carel, JC, Kelly, PA, Christen, Y , 95 - 105 .

Metherell LA, Savage MO, Dattani M, Walker J, Clayton PE, Farooqi IS, Clark AJL ( 2004 ) . TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency . Eur J Endocrinol vol. 151 , ( 4 ) 463 - 465 .

Milward A, Metherell L, Maamra M, Barahona MJ, Wilkinson IR, Camacho-Hubner C, Savage MO, Bidlingmaier CM et al. ( 2004 ) . Growth hormone (GH) insensitivity syndrome due to a GH receptor truncated after box1, resulting in isolated failure of STAT 5 signal transduction . J CLIN ENDOCR METAB vol. 89 , ( 3 ) 1259 - 1266 .

Metherell LA, Cooray S, Huebner A, Ruschendorf F, Naville D, Begeot M, Clark AJL ( 2004 ) . Mutations in a novel gene, encoding a single transmembrane domain protein are associated with familial glucocorticoid deficiency type 2 . ENDOCRINE RESEARCH . vol. 30 , 889 - 890 .

Kola B, Korbonits M, Diaz-Cano S, Kaltsas G, Morris DG, Jordan S, Metherell L, Powell M et al. ( 2003 ) . Reduced expression of the growth hormone and type 1 insulin-like growth factor receptors in human somatotroph tumours and an analysis of possible mutations of the growth hormone receptor . Clin Endocrinol (Oxf) vol. 59 , ( 3 ) 328 - 338 .

Swords F, Metherell L, Arola J, Clark A ( 2003 ) . No Evidence for a Role for Mutations in the cAMP-Dependent Protein Kinase a Regulatory Subunit in Hyperfunctioning Adrenocortical Adenomas . Clinical Science vol. 104 , ( s49 ) 20p - 20p .

Savage MO, Blair JC, Burren CP, Camacho-Hübner C, Woods KA, Metherell L, Clark AJL ( 2002 ) . Phenotypic variability in growth hormone insensitivity . J Pediatr Endocrinol Metab . vol. 15 Suppl 5 , 1449 - 1450 .

Bjarnason R, Banerjee K, Rose SJ, Rosberg S, Metherell L, Clark AJL, Albertsson-Wikland K, Savage MO ( 2002 ) . Spontaneous growth hormone secretory characteristics in children with partial growth hormone insensitivity . CLIN ENDOCRINOL vol. 57 , ( 3 ) 357 - 361 .

Elias LLK, Huebner A, Metherell LA, Canas A, Warne GL, Bitti MLM, Cianfarani S, Clayton PE et al. ( 2001 ) . Tall stature in familial glucocorticoid deficiency . Clinical Endocrinology vol. 53 , ( 4 ) 423 - 430 .

Edwards KJ, Metherell LA, Yates M, Saunders NA ( 2001 ) . Detection of rpoB mutations in Mycobacterium tuberculosis by biprobe analysis . J CLIN MICROBIOL vol. 39 , ( 9 ) 3350 - 3352 .

Metherell LA, Akker SA, Munroe PB, Rose SJ, Caulfield M, Savage MO, Chew SL, Clark AJ ( 2001 ) . Pseudoexon activation as a novel mechanism for disease resulting in atypical growth-hormone insensitivity . Am J Hum Genet vol. 69 , ( 3 ) 641 - 646 .

Clark AJ, Metherell L, Swords FM, Elias LL ( 2001 ) . The molecular pathogenesis of ACTH insensitivity syndromes . Ann Endocrinol (Paris) vol. 62 , ( 2 ) 207 - 211 .

Savage MO, Burren CP, Blair JC, Woods KA, Metherell L, Clark AJ, Camacho-Hübner C ( 2001 ) . Growth hormone insensitivity: pathophysiology, diagnosis, clinical variation and future perspectives . Horm Res . vol. 55 Suppl 2 , 32 - 35 .

Clark AJ, Metherell L, Swords FM, Elias LL ( 2001 ) . The molecular pathogenesis of ACTH insensitivity syndromes . Annales d'endocrinologie vol. 62 , ( 2 ) 207 - 211 .

CLODE FE, METHERELL LA, PITT TL ( 1999 ) . NOSOCOMIAL ACQUISITION OF BURKHOLDERIA GLADIOLI IN PATIENTS WITH CYSTIC FIBROSIS . American Journal of Respiratory and Critical Care Medicine vol. 160 , ( 1 ) 374 - 375 .

Arnold C, Metherell L, Willshaw G, Maggs A, Stanley J ( 1999 ) . Predictive Fluorescent Amplified-Fragment Length Polymorphism Analysis of Escherichia coli: High-Resolution Typing Method with Phylogenetic Significance . Journal of Clinical Microbiology vol. 37 , ( 5 ) 1274 - 1279 .

Metherell LA, Logan JMJ, Stanley J ( 1999 ) . PCR–Enzyme-Linked Immunosorbent Assay for Detection and Identification of Campylobacter Species: Application to Isolates and Stool Samples . Journal of Clinical Microbiology vol. 37 , ( 2 ) 433 - 435 .

Arnold C, Metherell L, Clewley JP, Stanley J ( 1999 ) . Predictive modelling of fluorescent AFLP: a new approach to the molecular epidemiology of E. coli . Research in Microbiology vol. 150 , ( 1 ) 33 - 44 .

Saunders NA, Hallas G, Gaworzewska ET, Metherell L, Efstratiou A, Hookey JV, George RC ( 1997 ) . PCR-enzyme-linked immunosorbent assay and sequencing as an alternative to serology for M-antigen typing of Streptococcus pyogenes . Journal of Clinical Microbiology vol. 35 , ( 10 ) 2689 - 2691 .

Saunders NA, Metherell L, Patel S ( 1997 ) . Investigation of an outbreak of multidrug resistant tuberculosis among renal patients using rpo B genes sequencing and IS6110 inverse PCR . Journal of Infection vol. 35 , ( 2 ) 129 - 133 .

Metherell LA, Hurst C, Bruce IJ ( 1997 ) . Rapid, sensitive, microbial detection by gene amplification using restriction endonuclease target sequences . Molecular and Cellular Probes vol. 11 , ( 4 ) 297 - 308 .