Muriel Houang

Sorbonne Université — France

Biochemistry, Genetics and Molecular Biology · Life Sciences

26h-index2.9kcitations81works0.82yr avg
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Research Topics

Sexual Differentiation and Disorders(20), Genetic Syndromes and Imprinting(10), Growth Hormone and Insulin-like Growth Factors(9), Hormonal and reproductive studies(9), Metabolism and Genetic Disorders(7)

Publications81 total

Splenic structural and functional abnormalities in individuals with NR5A1/SF-1 variants
Endocrine Connections·2025Open Access
Advances in congenital adrenal hyperplasia newborn screening: 11-ketotestosterone and 21-deoxycortisone as additional discriminatory biomarkers
European Journal of Endocrinology·2025· 3 citedOpen Access
A Recurrent Splice Variant Sheds Light on 11β-Hydroxylase Deficiency in a Unique Large Cohort
The Journal of Clinical Endocrinology & Metabolism·2025· 3 cited
Genotype-phenotype correlation in patients having a WT1 germline variant : lessons from a large French cohort
Endocrine Abstracts·2025
Contribution of clinical, biological mini-puberty and genetic analysis in 57 46,XY DSD: a monocentric retrospective cohort
Hormone Research in Paediatrics·2025
Digenic Inheritance Mode in Congenital Hypothyroidism Due to Thyroid Dysgenesis: HYPOTYGEN Translational Cohort Study
The Journal of Clinical Endocrinology & Metabolism·2025· 3 cited
8577 Gonadal function throughout life in XX and XY patients with a germline WT1 variant - lessons from a cohort of 80 patients
Journal of the Endocrine Society·2024Open Access
8577 Gonadal function throughout life in XX and XY patients with a germline WT1 variant - lessons from a cohort of 80 patients
Journal of the Endocrine Society·2024Open Access
Un nouveau biomarqueur plasmatique sensible pour identifier un déficit en 21-hydroxylase chez le nouveau-né
Annales d Endocrinologie·2024Open Access
Étude GONADVENIR : évolution de la fonction gonadique chez les patient.e.s ayant un variant du gène WT1
Annales d Endocrinologie·2024Open Access
Un nouveau variant d’épissage intronique profond de CYP11B1 est le plus fréquent chez les patients caucasiens atteints de déficits en 11β-hydroxylase : données fonctionnelles, cliniques et hormonales dans 36 familles
Annales d Endocrinologie·2024Open Access
Plasma 21-deoxycortisone: a sensitive additive tool in 21-hydroxylase deficiency in newborns
European Journal of Endocrinology·2024· 1 cited
A proof of concept of a machine learning algorithm to predict late-onset 21-hydroxylase deficiency in children with premature pubic hair
Yearbook of pediatric endocrinology·2023
Changes in the clinical management of 5α-reductase type 2 and 17β-hydroxysteroid dehydrogenase type 3 deficiencies in France
Endocrine Connections·2023· 9 citedOpen Access
Combining metabolomics and machine learning models as a tool to distinguish non-classic 21-hydroxylase deficiency from polycystic ovary syndrome without adrenocorticotropic hormone testing
Human Reproduction·2022· 14 citedOpen Access
Analysis of a pitfall in congenital adrenal hyperplasia newborn screening: evidence of maternal use of corticoids detected on dried blood spot
Endocrine Connections·2022· 2 citedOpen Access
Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)
Orphanet Journal of Rare Diseases·2022· 38 citedOpen Access
A proof of concept of a machine learning algorithm to predict late-onset 21-hydroxylase deficiency in children with premature pubic hair
The Journal of Steroid Biochemistry and Molecular Biology·2022· 11 citedOpen Access
Age at diagnosis in patients with chronic congenital endocrine conditions: a regional cohort study from a reference center for rare diseases
Orphanet Journal of Rare Diseases·2021· 4 citedOpen Access
Position statement on the diagnosis and management of premature/primary ovarian insufficiency (except Turner Syndrome)
Annales d Endocrinologie·2021· 26 cited
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Frequent Co-authors

Yves Le Bouc(15), Irène Netchine(12), Jean‐Claude Carel(9), Juliane Léger(7), Sylvie Cabrol(6), Laurence Périn(6), Françoise Denoyelle(5), Delphine Zénaty(5), Rachel Reynaud(5), Sophie Christin‐Maître(5), Bruno Donadille(5), Jean‐Pierre Siffroi(5), Salah Azzi(4), Sandrine Marlin(4), Anne Lienhardt(4), Jérôme Bertherat(4), Michel Polak(4), Aude Brac de la Perrière(4), Anne Bachelot(4), Catherine Pienkowski(4)