Publications by authors named "Rathi Prasad"

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Author Correction: International consensus statement on the diagnosis and management of phaeochromocytoma and paraganglioma in children and adolescents.
Ruth T Casey, Emile Hendriks, Cheri Deal, Steven G Waguespack, Verena Wiegering, Rathi Prasad

Nat Rev Endocrinol· October 2025

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Effect of pubertal induction with combined gonadotropin therapy on testes development and spermatogenesis in males with gonadotropin deficiency: a cohort study.
Sebastian Castro, Kyla Ng Yin, Francesco d'Aniello, Emma C Alexander, Emily Connolly, Rathi Prasad

Hum Reprod Open· May 2025

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International consensus statement on the diagnosis and management of phaeochromocytoma and paraganglioma in children and adolescents.
Ruth T Casey, Emile Hendriks, Cheri Deal, Steven G Waguespack, Verena Wiegering, Rathi Prasad

Nat Rev Endocrinol· December 2024

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Author Correction: International consensus statement on the diagnosis and management of phaeochromocytoma and paraganglioma in children and adolescents.
Ruth T Casey, Emile Hendriks, Cheri Deal, Steven G Waguespack, Verena Wiegering, Rathi Prasad

Nat Rev Endocrinol· December 2024

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Thioredoxin Reductase 2 Variant as a Cause of Micropenis, Undescended Testis, and Selective Glucocorticoid Deficiency.
Supitcha Patjamontri, Angela K Lucas-Herald, Martin McMillan, Rathi Prasad, Louise A Metherell

Horm Res Paediatr· October 2024

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Ichthyosis linked to sphingosine 1-phosphate lyase insufficiency is due to aberrant sphingolipid and calcium regulation.
Christopher J Smith, Jack L Williams, Charlotte Hall, Josefina Casas, Matthew P Caley, Rathi Prasad

J Lipid Res· April 2023

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Elevated sphingosine-1-phosphate lyase leads to increased metabolism and reduced survival in adrenocortical carcinoma.
Jack L Williams, Chris Smith, Charlotte Hall, Zakaa Khaled, Avinaash Maharaj, Rathi Prasad

Eur J Endocrinol· January 2023

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A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review.
Avinaash Maharaj, Ruth Kwong, Jack Williams, Christopher Smith, Helen Storr, Rathi Prasad

Endocr Connect· August 2022

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Insights From Long-term Follow-up of a Girl With Adrenal Insufficiency and Sphingosine-1-Phosphate Lyase Deficiency.
Avinaash Maharaj, Tülay Güran, Federica Buonocore, John C Achermann, Louise Metherell, Rathi Prasad

J Endocr Soc· May 2022

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Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.
Federica Buonocore, Avinaash Maharaj, Younus Qamar, Katrin Koehler, Jenifer P Suntharalingham, Rathi Prasad

J Endocr Soc· August 2021

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Haploinsufficiency of NKX2-1 in Brain-Lung-Thyroid Syndrome with Additional Multiple Pituitary Dysfunction.
Rathi Prasad, Adeline K Nicholas, Nadia Schoenmakers, John Barton

Horm Res Paediatr· June 2020

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A Sphingosine-1-Phosphate Lyase Mutation Associated With Congenital Nephrotic Syndrome and Multiple Endocrinopathy.
Avinaash Maharaj, Demetria Theodorou, Indraneel Indi Banerjee, Louise A Metherell, Rathi Prasad

Front Pediatr· April 2020

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Isolated glucocorticoid deficiency: Genetic causes and animal models.
Avinaash Maharaj, Ashwini Maudhoo, Li F Chan, Tatiana Novoselova, Rathi Prasad

J Steroid Biochem Mol Biol· May 2019

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Predicted Benign and Synonymous Variants in Cause Primary Adrenal Insufficiency Through Missplicing.
Avinaash Maharaj, Federica Buonocore, Eirini Meimaridou, Gerard Ruiz-Babot, Leonardo Guasti, Rathi Prasad

J Endocr Soc· January 2019

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Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome.
Rathi Prasad, Irene Hadjidemetriou, Avinaash Maharaj, Eirini Meimaridou, Federica Buonocore

J Clin Invest· March 2017

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Hartsfield syndrome associated with a novel heterozygous missense mutation in FGFR1 and incorporating tumoral calcinosis.
Rathi Prasad, Carole Brewer, Christine P Burren

Am J Med Genet A· August 2016

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Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD).
Rathi Prasad, Li F Chan, Claire R Hughes, Juan P Kaski, Julia C Kowalczyk

J Clin Endocrinol Metab· August 2014

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Lack of galectin-1 results in defects in myoblast fusion and muscle regeneration.
Vasilios Georgiadis, Helen J S Stewart, Hilary J Pollard, Yasemin Tavsanoglu, Rathi Prasad

Dev Dyn· April 2007

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