Chloe A. Hanna - Publications

Challenges in Care Provision for Children and Adolescents With Differences of Sex Development.

Journal: Clinical endocrinology

Published: September 17, 2024

Genomic testing for differences of sex development: Practices and perceptions of clinicians.

Journal: Clinical endocrinology

Published: May 16, 2024

Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights.

Journal: The Journal of clinical endocrinology and metabolism

Published: June 17, 2022

Identifying the Resource Needs of Young People with Differences of Sex Development.

Journal: Journal of clinical medicine

Published: May 28, 2022

Babies born with ambiguous genitalia: Developing an educational resource for Australian midwives.

Journal: Women and birth : journal of the Australian College of Midwives

Published: March 12, 2022

Genetic Variants in SRD5A2 in a Spectrum of DSD Patients from Australian Clinics Highlight Importance of Genetic Testing alongside Typical First-Line Investigations.

Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

Published: January 21, 2022

Role of cross-campus multidisciplinary team meetings in decision-making for children and adolescents with differences of sex development/intersex.

Journal: Journal of paediatrics and child health

Published: August 13, 2020

Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).

Journal: Human genetics

Published: March 01, 2020

TP63-truncating variants cause isolated premature ovarian insufficiency.

Journal: Human mutation

Published: December 10, 2018

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

Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

Published: July 18, 2018

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

Journal: European journal of human genetics : EJHG

Published: October 02, 2017

Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development.

Journal: Human mutation

Published: July 26, 2017