Area of research
Molecular Biology · Genetics
Research interest
Research interests include Sexual Differentiation and Disorders, Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities, Adrenal Hormones and Disorders, and Urological Disorders and Treatments.
Clinical practice guidelines for the care of girls and women with Turner syndrome
Crinecerfont, a CRF1 Receptor Antagonist, Lowers Adrenal Androgens in Adolescents With Congenital Adrenal Hyperplasia
A View from the past into our collective future: the oncofertility consortium vision statement
Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations
Does Patient-centered Care Change Genital Surgery Decisions? The Strategic Use of Clinical Uncertainty in Disorders of Sex Development Clinics
Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development