Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

Stefanie Eggers, Simon Sadedin, Jocelyn A. van den Bergen, +70

Genome biology

Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9

Brittany Croft, Thomas Ohnesorg, Jacqueline Hewitt, +15

Nature Communications

New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencing

Sylvie Jaillard, Katrina M. Bell, Linda Akloul, +25

Maturitas

InfertilityCandidate GenesPremature Ovarian InsufficiencyGenetic DisorderGenetics +9

STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia

Sylvie Jaillard, Kenneth McElreavy, Gorjana Robevska, +19

Molecular Human Reproduction

TP63‐truncating variants cause isolated premature ovarian insufficiency

Elena J. Tucker, Sylvie Jaillard, Sonia Grover, +8

Human Mutation

GeneticsReproductive HealthGynecologyPathologyDisease Gene Identification +14

Functional characterization of novel <i>NR5A1</i> variants reveals multiple complex roles in disorders of sex development

Gorjana Robevska, Jocelyn A. van den Bergen, Thomas Ohnesorg, +16

Human Mutation

GeneticsMolecular GeneticsDisease Gene IdentificationSexual DisordersClinical Genetics +18

An In Vitro Differentiation Protocol for Human Embryonic Bipotential Gonad and Testis Cell Development

Ingrid Knarston, Svenja Pachernegg, Gorjana Robevska, +9

Stem Cell Reports

Identification of Candidate Genes for Mayer-Rokitansky-Küster-Hauser Syndrome Using Genomic Approaches

Brendan Backhouse, Chloe Hanna, Gorjana Robevska, +10

Sexual Development

GeneticsGenetic EpidemiologyPathologyGynecologyMolecular Genetics +18

Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes

Elena J. Tucker, Katrina M. Bell, Gorjana Robevska, +16

European Journal of Human Genetics

OocyteInfertilityFertilityMeiotic GenesOogenesis +11

Identification of variants in pleiotropic genes causing “isolated” premature ovarian insufficiency: implications for medical practice

Elena J. Tucker, Sonia Grover, Gorjana Robevska, +3

European Journal of Human Genetics

Female InfertilityPleiotropic GenesGenetic DisorderGeneticsReproductive Health +8