Tiffany L. Wotton

Sydney, NSW, Australia

Last Updated: 09/26/2026

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Found 17 publications

Evidence-based multidisciplinary model of care for newborn screening in spinal muscular atrophy.

Evidence-based multidisciplinary model of care for newborn screening in spinal muscular atrophy.

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

Published: August 13, 2025

Targeted editing of the 21-hydroxylase locus confers durable therapeutic effect in a murine model of congenital adrenal hyperplasia.

Targeted editing of the 21-hydroxylase locus confers durable therapeutic effect in a murine model of congenital adrenal hyperplasia.

Journal: Molecular therapy : the journal of the American Society of Gene Therapy

Published: June 05, 2025

Newborn Genomic Sequencing Needs Confirmation but Not Repeating.

Newborn Genomic Sequencing Needs Confirmation but Not Repeating.

Journal: Children (Basel, Switzerland)

Published: August 26, 2024

Challenges in management of abnormal thyroid function tests in unwell infants: A tertiary centre real-world experience.

Challenges in management of abnormal thyroid function tests in unwell infants: A tertiary centre real-world experience.

Journal: Journal of paediatrics and child health

Published: June 09, 2024

Counting Conditions on Newborn Bloodspot Screening Panels in Australia and New Zealand.

Counting Conditions on Newborn Bloodspot Screening Panels in Australia and New Zealand.

Journal: International journal of neonatal screening

Published: April 19, 2024

AAV-delivered hepato-adrenal cooperativity in steroidogenesis: Implications for gene therapy for congenital adrenal hyperplasia.

AAV-delivered hepato-adrenal cooperativity in steroidogenesis: Implications for gene therapy for congenital adrenal hyperplasia.

Journal: Molecular therapy. Methods & clinical development

Published: October 13, 2023

Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy.

Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy.

Journal: Journal of neuromuscular diseases

Published: November 14, 2022

Developmental delay and non-phenylketonuria (PKU) hyperphenylalaninemia in DNAJC12 deficiency: Case and approach.

Developmental delay and non-phenylketonuria (PKU) hyperphenylalaninemia in DNAJC12 deficiency: Case and approach.

Journal: Brain & development

Published: October 04, 2022

Fifty years of newborn screening for congenital hypothyroidism: current status in Australasia and the case for harmonisation.

Fifty years of newborn screening for congenital hypothyroidism: current status in Australasia and the case for harmonisation.

Journal: Clinical chemistry and laboratory medicine

Published: April 24, 2022

DNA Methylation at Birth Predicts Intellectual Functioning and Autism Features in Children with Fragile X Syndrome.

DNA Methylation at Birth Predicts Intellectual Functioning and Autism Features in Children with Fragile X Syndrome.

Journal: International journal of molecular sciences

Published: September 10, 2020

Are We Ready for Fragile X Newborn Screening Testing?-Lessons Learnt from a Feasibility Study.

Are We Ready for Fragile X Newborn Screening Testing?-Lessons Learnt from a Feasibility Study.

Journal: International journal of neonatal screening

Published: November 17, 2017

FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts.

FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts.

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

Published: November 07, 2017

Showing 1-12 of 17

Last Updated: 09/26/2026