Avinaash V. Maharaj

Charterhouse Square
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 25 publications

Real-world utility of diagnostic gene panels for childhood short stature and pituitary hormone deficiency in the UK.

Real-world utility of diagnostic gene panels for childhood short stature and pituitary hormone deficiency in the UK.

Journal: Archives of disease in childhood

Published: September 30, 2025

Silver-Russell syndrome secondary to rare (epi)genotypes exhibits phenotypic heterogeneity challenging clinical diagnosis.

Silver-Russell syndrome secondary to rare (epi)genotypes exhibits phenotypic heterogeneity challenging clinical diagnosis.

Journal: Clinical epigenetics

Published: May 13, 2025

Pathogenesis of Noonan Syndrome is Modulated by NOC2L, a Novel Interactor of LZTR1 Leading to Impaired P53 Signalling.

Pathogenesis of Noonan Syndrome is Modulated by NOC2L, a Novel Interactor of LZTR1 Leading to Impaired P53 Signalling.

Journal: The Journal of clinical endocrinology and metabolism

Published: May 06, 2025

Novel recurrent mutations and genetic diversity in Sudanese children with adrenal insufficiency.

Novel recurrent mutations and genetic diversity in Sudanese children with adrenal insufficiency.

Journal: European journal of endocrinology

Published: October 18, 2024

Approach to the Patient With Suspected Silver-Russell Syndrome.

Approach to the Patient With Suspected Silver-Russell Syndrome.

Journal: The Journal of clinical endocrinology and metabolism

Published: March 15, 2024

QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction.

QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction.

Journal: Nature communications

Published: September 01, 2023

Familial Glucocorticoid Deficiency: the changing landscape of an eponymous syndrome.

Familial Glucocorticoid Deficiency: the changing landscape of an eponymous syndrome.

Journal: Frontiers in endocrinology

Published: July 27, 2023

Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome.

Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome.

Journal: JCI insight

Published: February 16, 2023

Characterization of dominant-negative growth hormone receptor variants reveals a potential therapeutic target for short stature.

Characterization of dominant-negative growth hormone receptor variants reveals a potential therapeutic target for short stature.

Journal: European journal of endocrinology

Published: December 24, 2022

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

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

Journal: Endocrine connections

Published: June 01, 2022

Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case Report.

Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case Report.

Journal: Frontiers in endocrinology

Published: January 22, 2022

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

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

Journal: European journal of endocrinology

Published: December 01, 2021

Showing 1-12 of 25

Last Updated: 09/26/2026