Whole Exome Sequencing and Functional Characterization Increase Diagnostic Yield in Siblings with a 46, XY Difference of Sexual Development (DSD)

Oligogenic Origin of Differences of Sex Development in Humans

(2020) Núria Camats et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

17β-Hydroxysteroid dehydrogenase 3 deficiency: Three case reports and a systematic review

(2017) Zuwei Yang et al.   JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY

Novel cases of Tunisian patients with mutations in the gene encoding 17β-hydroxysteroid dehydrogenase type 3 and a founder effect

(2017) Bochra Ben Rhouma et al.   JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY

Biochemical analyses and molecular modeling explain the functional loss of 17β-hydroxysteroid dehydrogenase 3 mutant G133R in three Tunisian patients with 46, XY Disorders of Sex Development

(2016) Roger T. Engeli et al.   JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiency

(2015) Ahmed Khattab et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

The Clinical and Molecular Heterogeneity of 17βHSD-3 Enzyme Deficiency

(2010) Minu M. George et al.   Hormone Research in Paediatrics

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

(2010) Eugene V. Davydov et al.   PLoS Computational Biology

Identification of deleterious mutations within three human genomes

(2009) S. Chun et al.   GENOME RESEARCH