Publications by authors named "Helen Storr"

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Silver-Russell syndrome secondary to rare (epi)genotypes exhibits phenotypic heterogeneity challenging clinical diagnosis.
Uttara Kurup, David B N Lim, Avinaash V Maharaj, Miho Ishida, Justin H Davies, Helen L Storr

Clin Epigenetics· December 2025

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Pathogenesis of Noonan syndrome is modulated by NOC2L, a novel interactor of LZTR1 leading to impaired p53 signalling.
Sumana Chatterjee, Miho Ishida, Débora R Bertola, Juliana Chizo Agwu, Carles Gaston-Massuet, Helen L Storr

J Clin Endocrinol Metab· November 2025

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Real-world utility of diagnostic gene panels for childhood short stature and pituitary hormone deficiency in the UK.
David B N Lim, Louise McClelland, Suzanne Page, Melissa Connolly, Martina Owens, Helen L Storr

Arch Dis Child· October 2025

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Cushing's disease in children: a single-centre experience.
Ahmed Mahmoud Elnaggar, Mehul Dattani, Hoong-Wei Gan, Helen L Storr, Matthew Matson

Childs Nerv Syst· September 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, Helen L Storr

Hum Reprod Open· May 2025

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Approach to the Patient With Suspected Silver-Russell Syndrome.
Uttara Kurup, David B N Lim, Helena Palau, Avinaash V Maharaj, Miho Ishida, Helen L Storr

J Clin Endocrinol Metab· September 2024

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QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction.
Avinaash V Maharaj, Miho Ishida, Anna Rybak, Reem Elfeky, Afiya Andrews, Helen L Storr

Nat Commun· September 2024

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Parental and healthcare provider attitudes towards the Healthy Child Programme in England: a qualitative analysis.
Tahmid Rahman, Joseph Freer, Isabella Cordani, Michael Papasavva, Leo Dunkel, Helen L Storr

BMC Public Health· August 2024

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Consensus guideline for the diagnosis and management of pituitary adenomas in childhood and adolescence: Part 1, general recommendations.
Márta Korbonits, Joanne C Blair, Anna Boguslawska, John Ayuk, Justin H Davies, Helen L Storr

Nat Rev Endocrinol· May 2024

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Consensus guideline for the diagnosis and management of pituitary adenomas in childhood and adolescence: Part 2, specific diseases.
Márta Korbonits, Joanne C Blair, Anna Boguslawska, John Ayuk, Justin H Davies, Helen L Storr

Nat Rev Endocrinol· May 2024

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Key Stages in the Development and Establishment of Paediatric Endocrinology: A Template for Future Progress.
Martin O Savage, Malcolm D C Donaldson, Justin H Davies, Helen L Storr

Horm Res Paediatr· February 2024

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Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome.
Avinaash V Maharaj, Emily Cottrell, Thatchawan Thanasupawat, Sjoerd D Joustra, Barbara Triggs-Raine, Helen L Storr

JCI Insight· February 2024

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A Digital Health Solution for Child Growth Monitoring at Home: Testing the Accuracy of a Novel "GrowthMonitor" Smartphone Application to Detect Abnormal Height and Body Mass Indices.
Thilipan Thaventhiran, Joanna Orr, Joan K Morris, Anne Hsu, Lee Martin, Helen L Storr

Mayo Clin Proc Digit Health· December 2023

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Generation of glucocorticoid-producing cells derived from human pluripotent stem cells.
Gerard Ruiz-Babot, Ariane Eceiza, Fernando Abollo-Jiménez, Maria Malyukov, Diana L Carlone, Helen L Storr

Cell Rep Methods· November 2023

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Challenges in the care of individuals with severe primary insulin-like growth factor-I deficiency (SPIGFD): an international, multi-stakeholder perspective.
Philippe F Backeljauw, Mary Andrews, Peter Bang, Leo Dalle Molle, Cheri L Deal, Helen L Storr

Orphanet J Rare Dis· October 2023

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Key features of puberty onset and progression can help distinguish self-limited delayed puberty from congenital hypogonadotrophic hypogonadism.
Yuri Aung, Vasilis Kokotsis, Kyla Ng Yin, Kausik Banerjee, Gary Butler, Helen L Storr

Front Endocrinol (Lausanne)· September 2023

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Author response.
Helen L Storr

Br J Gen Pract· June 2023

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Characterization of dominant-negative growth hormone receptor variants reveals a potential therapeutic target for short stature.
Afiya Andrews, Emily Cottrell, Avinaash Maharaj, Tasneem Ladha, Jack Williams, Helen L Storr

Eur J Endocrinol· April 2023

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Assessment of childhood short stature: a GP guide.
Helen L Storr, Joseph Freer, Jenny Child, Justin H Davies

Br J Gen Pract· April 2023

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Inequalities in the assessment of childhood short stature.
Justin H Davies, Jenny Child, Joseph Freer, Helen L Storr

Br J Gen Pract· April 2023

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Autism-linked NLGN3 is a key regulator of gonadotropin-releasing hormone deficiency.
Roberto Oleari, Antonella Lettieri, Stefano Manzini, Alyssa Paganoni, Valentina André, Helen L Storr

Dis Model Mech· March 2023

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Does stunting still matter in high-income countries?
Joseph Freer, Joanna Orr, Robert Walton, Helen L Storr, Leo Dunkel

Ann Hum Biol· February 2023

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Short stature and language development in the United Kingdom: a longitudinal analysis of children from the Millennium Cohort Study.
Joseph Freer, Joanna Orr, Joan K Morris, Robert Walton, Leo Dunkel, Helen L Storr

BMC Med· December 2022

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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

Endocr Connect· August 2022

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Evaluating the sensitivity and specificity of the UK and Dutch growth referral criteria in predicting the diagnosis of pathological short stature.
Gemma White, Shakira Cosier, Afiya Andrews, Lee Martin, Ruben Willemsen, Helen L Storr

BMJ Paediatr Open· July 2022

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