• The Importance of Recognizing a Locally Advanced Pheochromocytoma 

  Lim, ES; Akker, SA (2021-09)

• Investigating the role of somatic sequencing platforms for phaeochromocytoma and paraganglioma in a large UK cohort 

  Winzeler, B; Tufton, N; Lim, E; Challis, BG; Park, S-M; Izatt, L; Carroll, PV; Velusamy, A; Hulse, T; Whitelaw, BC (2022-10)

• RF33 | PSAT69 A Combined Candidate Gene/Whole Exome Sequencing Approach Permits a Rapid Genetic Diagnosis for >81% Individuals with Primary Adrenal Insufficiency. 

  Chan, L; Smith, C; Read, J; Hall, C; Maharaj, A; Ramirez, LM; Qamar, Y; Hughes, C; Clark, A; Musa, S (2022-11-01)

• Elevated SGPL1 expression is associated with increased metabolic rate in cells and reduced survival in individuals with adrenocortical carcinoma 

  Williams, J; Smith, C; Hall, C; Khaled, Z; Maharaj, A; Kwong, R; Pittaway, J; Casas, J; Parvanta, L; Abdel-Aziz, T (2022-05-07)

• Thioredoxin Reductase 2 (TXNRD2) Variant As A Cause Of Micropenis, Undescended Testis And Selective Glucocorticoid Deficiency 

  Patjamontri, S; Lucas-Herald, A; McMillan, M; Prasad, R; Metherell, L; McGowan, R; Tobias, E; Ahmed, SF (2022-09)

• SGPL1 deficiency impairs Leydig cell steroidogenesis and should be considered in 46XY individuals with DSD and adrenal insufficiency 

  Ming, WKR; Williams, J; Maharaj, AV; Metherell, L; Prasad, R (2022-10-17)

• The lack of genotype: phenotype correlations in rare causes of primary adrenal insufficiency highlights the need for genetic testing 

  Maitra, S; Smith, C; Hall, C; Read, J; Maharaj, AV; Mariela, MRL; Qamar, Y; Prasad, R; Chan, LF; Metherell, LA (2022-10-17)

• Understanding the molecular basis of short stature in six patients with pathogenic variants in HMGA2 

  Maharaj, A; Cottrell, E; van, DH; de, BC; Joustra, S; Kant, S; van, DKD; Inmaculada, CDCLM; Massoud, A; Metherell, L (2022-10-17)

• Growth hormone receptor 6Ω pseudoexon activation: a novel cause of severe growth hormone insensitivity 

  Cottrell, E; Maharaj, A; Williams, J; Chatterjee, S; Cirillo, G; del, GEM; Festa, A; Palumbo, S; Capalbo, D; Salerno, M (2021-11-08)

• A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review 

  Maharaj, A; Kwong, R; Williams, J; Smith, C; Storr, H; Krone, R; Braslavsky, D; Clemente, M; Ram, N; Banerjee, I (2022-08-01)

• A rapid genetic diagnosis for >80% individuals with non-CAH Primary Adrenal Insufficiency is achievable by candidate gene sequencing combined with WES 

  Smith, C; Read, J; Hall, C; Maharaj, A; Marroquin, RL; Qamar, Y; Hughes, C; Clark, A; Prasad, R; Chan, L (2022-05-07)

• Clinical and Genetic characterization of primary adrenal insufficiency in Sudanese children 

  Musa, SA; Abdullah, MA; Hassan, SS; Qamar, Y; Hall, C; Maitra, S; Maharaj, AV; Ramirez, LMM; Read, J; Smith, C (2022-09)

• A rare heterozygous IGFI variant causing impaired IGF-I cleavage and postnatal growth failure: a novel disease mechanism with insights into IGF-I physiology 

  Cottrell, E; Andrews, A; Williams, J; Chatterjee, S; Edate, S; Metherell, LA; Hwa, V; Storr, HL (2022-09)

• Characterisation of the first heterozygous missense HMGA2 variant helps delineate the crucial functional roles of a novel growth gene 

  Cottrell, E; Maharaj, AV; Triggs-Raine, B; Thanasupawat, T; Williams, J; Fujimoto, M; Metherell, LA; Hwa, V; Klonisch, T; Hombach-Klonisch, S (2022-09)

• Sphingosine 1-phosphate lyase insufficiency induced ichthyosis is due to sphingolipid imbalance, increased differentiation, and aberrant intercellular junctions 

  Smith, CJ; Williams, JL; Hall, C; Caley, MP; O'Toole, EA; Prasad, R; Metherell, LA (2022-12)

• Genetic characterization of short stature patients with overlapping features of growth hormone insensitivity syndromes 

  A, A; A, M; E, C; S, C; P, S; L, D; K, D; A, B; T, M; R, V (2022-09-12)

• Elevated sphingosine-1-phosphate lyase leads to increased metabolism and reduced survival in adrenocortical carcinoma. 

  Williams, JL; Smith, C; Hall, C; Khaled, Z; Maharaj, A; Kwong, R; Pittaway, J; Casas, J; Parvanta, L; Abdel-Aziz, TE (2023-01-10)

  OBJECTIVE: Adrenocortical carcinomas (ACCs) are invasive tumours arising in the adrenal cortex, and steroidogenic tumours are associated with worse prognostic outcomes. Loss-of-function mutations in sphingosine-1-phosphate ...

• Ichthyosis linked to sphingosine 1-phosphate lyase insufficiency is due to aberrant sphingolipid and calcium regulation. 

  Smith, CJ; Williams, JL; Hall, C; Casas, J; Caley, MP; O'Toole, EA; Prasad, R; Metherell, LA (2023-03-01)

  Sphingosine 1-phosphate lyase (SGPL1) insufficiency (SPLIS) is a syndrome which presents with adrenal insufficiency, steroid-resistant nephrotic syndrome, hypothyroidism, neurological disease, and ichthyosis. Where a skin ...

• Adrenal Dysfunction in Mitochondrial Diseases 

  Corkery-Hayward, M; Metherell, LAA (2023-01)

• Perceived workplace support and mental health, well-being and burnout among health care professionals during the COVID-19 pandemic: a cohort analysis. 

  Siddiqui, I; Gupta, J; Collett, G; McIntosh, I; Komodromos, C; Godec, T; Ng, S; Maniero, C; Antoniou, S; Khan, R (2023)

  BACKGROUND: Little is known about the relationship between workplace support and mental health and burnout among health care professionals (HCPs) during the COVID-19 pandemic. In this cohort study, we sought to evaluate ...

View more