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Research

Publications: Dr Avinaash Vickram Maharaj

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 , ( Suppl 1 ) 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. ( 2022 ) . 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 ( 2022 ) . 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
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 .
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
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 )
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, 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 )
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 ( 2021 ) . 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
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 LZTR1 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 in vitro . 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 .
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 .
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 , ( 1 )
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 . J Steroid Biochem Mol Biol 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. 9 , ( 3 ) 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
Chatterjee S, Rose SJ, Mushtaq T, Cottrell E, Maharaj AV, Williams J, Savage MO, Metherell LA et al. ( 2019 ) . GHR transcript heterogeneity may explain the phenotypic variability in patients with homozygous GHR pseudoexon (6 Psi) 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 .
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 .
Maharaj A, Buonocore F, Meimaridou E, Ruiz-Babot G, Guasti L, Peng HM, Capper CP, Burgos-Tirado N et al. ( 2019 ) . Predicted benign and synonymous variants in CYP11A1 cause primary adrenal insufficiency through missplicing . Journal of the Endocrine Society vol. 3 , ( 1 ) 201 - 221 .
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
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
Prasad R, Maharaj A, Meimaridou E, van VP, Buonocore F, Barbagelata E, Bergada I, Cassinelli H et al. ( 2016 ) . Mutations in SGPL1, encoding sphingosine-1-phosphate lyase, cause a novel form of primary adrenal insufficiency with steroid resistant nephrotic syndrome . Endocrine Abstracts
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 )