Anne Baxendale

72 King William Road
North Adelaide, SA 5006, Australia

Last Updated: 09/26/2026

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Found 8 publications

FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination.

FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination.

Journal: Clinical genetics

Published: September 02, 2022

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.

Journal: JAMA

Published: June 24, 2020

Parental experiences of ultrarapid genomic testing for their critically unwell infants and children.

Parental experiences of ultrarapid genomic testing for their critically unwell infants and children.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 12, 2020

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

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

Journal: Human mutation

Published: July 26, 2017

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

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

Journal: Genome biology

Published: July 28, 2016

Is there a Role for Genetic Counselors in Prenatal Paternity Testing? - an Assessment Based on Audit of 13 years of Clinical Experience in South Australia.

Is there a Role for Genetic Counselors in Prenatal Paternity Testing? - an Assessment Based on Audit of 13 years of Clinical Experience in South Australia.

Journal: Journal of genetic counseling

Published: November 26, 2015

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.

Journal: Human molecular genetics

Published: August 10, 2015

Implementation of a personalized workplace smoking cessation programme.

Implementation of a personalized workplace smoking cessation programme.

Journal: Occupational medicine (Oxford, England)

Published: November 12, 2013

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Last Updated: 09/26/2026