Anna Wedell

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Catherine A. Brownstein, Alan H. Beggs, Nils Homer et al. · Genome biology · 2014 · 432 citations · Full text

Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation.

Anna Wedell, Astrid Thilén, E. Martin Ritzén et al. · The Journal of Clinical Endocrinology & Metabolism · 1994 · 355 citations

Genetics, Genetic Epidemiology, Pathology +19

Sex-Typed Toy Play Behavior Correlates with the Degree of Prenatal Androgen Exposure Assessed by<i>CYP21</i>Genotype in Girls with Congenital Adrenal Hyperplasia

Anna Nordenström, Anna Servin, Gunilla Bohlin et al. · The Journal of Clinical Endocrinology & Metabolism · 2002 · 253 citations · Full text

Neuroendocrinology, Gynecology, Congenital Adrenal Hyperplasia +17

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

Henrik Stranneheim, Kristina Lagerstedt‐Robinson, Måns Magnusson et al. · Genome Medicine · 2021 · 253 citations · Full text

Cognitive Functions in Children at Risk for Congenital Adrenal Hyperplasia Treated Prenatally with Dexamethasone

Tatja Hirvikoski, Anna Nordenström, Torun Lindholm et al. · The Journal of Clinical Endocrinology & Metabolism · 2006 · 225 citations