Núria Camats

Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome

Rathi Prasad, Irene Hadjidemetriou, Avinaash Maharaj et al. · Journal of Clinical Investigation · 2017 · 175 citations · Full text

Medicine, Endocrinology, Molecular Genetics +16

Ten Novel Mutations in the NR5A1 Gene Cause Disordered Sex Development in 46,XY and Ovarian Insufficiency in 46,XX Individuals

Núria Camats, Amit V. Pandey, Mónica Fernández‐Cancio et al. · The Journal of Clinical Endocrinology & Metabolism · 2012 · 132 citations · Full text

Medicine, Endocrinology, Genetics +17

Characterization of Novel StAR (Steroidogenic Acute Regulatory Protein) Mutations Causing Non-Classic Lipoid Adrenal Hyperplasia

Christa E. Flück, Amit V. Pandey, Bernhard Dick et al. · PLoS ONE · 2011 · 90 citations · Full text

Life Sciences, Endocrinology, Genetics +17

Human meiotic progression and recombination are affected by Bisphenol A exposure during in vitro human oocyte development

Miguel A. Brieño‐Enríquez, Pedro Robles, Núria Camats et al. · Human Reproduction · 2011 · 86 citations

Life Sciences, Genetics, Toxicology +16

Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?

Núria Camats, Mónica Fernández‐Cancio, Laura Audí et al. · European Journal of Human Genetics · 2018 · 64 citations

Life Sciences, Genetics, Molecular Genetics +17