Next-Generation Sequencing as First-Line Diagnostic Test in Patients With Disorders of Sex Development?

Contribution of clinical and genetic approaches for diagnosing 209 index cases with 46,XY Differences of Sex Development

(2022) Nathalia Lisboa Gomes et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Society for Endocrinology UK Guidance On The Initial Evaluation Of A Suspected Difference or Disorder Of Sex Development (DSD) (Revised 2021)

(2021) SF Ahmed et al.   CLINICAL ENDOCRINOLOGY

Towards improved genetic diagnosis of human differences of sex development

(2021) Emmanuèle C. Délot et al.   NATURE REVIEWS GENETICS

Up-to-Date Clinical and Biochemical Workup of the Child and the Adolescent with a Suspected Disorder of Sex Development

(2021) Romina P. Grinspon et al.   Hormone Research in Paediatrics

The External Genitalia Score (EGS): A European multicenter validation study

(2019) Saskia van der Straaten et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Disorders of sex development: effect of molecular diagnostics

(2015) John C. Achermann et al.   Nature Reviews Endocrinology

When hormone defects cannot explain it: Malformative disorders of sex development

(2014) Romina P. Grinspon et al.   BIRTH DEFECTS RESEARCH PART C-EMBRYO TODAY-REVIEWS