Publications: Dr Avinaash Vickram Maharaj

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 )

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 )

BN LD, McCelland L, Page S, Connolly M, Owens M, Bowles C, Palau H, Maharaj AV et al. ( 2024 ) . Diagnostic testing using gene panels for severe childhood growth failure and multiple pituitary hormone deficiency in England . 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

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 .

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 )

Maharaj AV ( 2023 ) . Familial Glucocorticoid Deficiency: the changing landscape of an eponymous syndrome . Frontiers in Endocrinology vol. 14 ,

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

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, 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

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 .

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 )

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 .

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, 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 .

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

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 .

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 )

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

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 .

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

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 .

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 .

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 .

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 .

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 .

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 ,

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 )

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

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 .

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 .

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 .

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

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

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

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 .

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 .

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

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

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

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 ) . 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 )