Area of research
Endocrinology, Diabetes and Metabolism · Reproductive Medicine
Research interest
Research interests include Hypothalamic control of reproductive hormones, Pituitary Gland Disorders and Treatments, Hormonal Regulation and Hypertension, and Sexual Differentiation and Disorders.
RNF216 Variants Found in Patients With Dementia, Hypogonadotropic Hypogonadism, and Severe Ataxia Deregulate Autophagy.
Phenotypic Divergence of <i>JAG1</i> ‐ and <i>NOTCH2</i> ‐Associated Alagille Syndrome & Disease‐Specific <i>NOTCH2</i> Variant Classification Guidelines
Elevated Serum Bile Acids Predict Poor Liver Outcomes in Children With Alagille Syndrome: Results From the <scp>GALA</scp> Study Group
Condition-Specific Growth Charts for Children With Alagille Syndrome
Event-free survival of maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA
Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study
Consensus statement by the French Society of Endocrinology (SFE) and French Society of Pediatric Endocrinology & Diabetology (SFEDP) on diagnosis of Cushing's syndrome
Galaxy Is a Suitable Bioinformatics Platform for the Molecular Diagnosis of Human Genetic Disorders Using High-Throughput Sequencing Data Analysis: Five Years of Experience in a Clinical Laboratory.
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
Macroprolactinomas in Children and Adolescents: Factors Associated With the Response to Treatment in 77 Patients
New NOBOX Mutations Identified in a Large Cohort of Women With Primary Ovarian Insufficiency Decrease KIT-L Expression