Felicity A. Collins

Sydney, NSW, Australia

Last Updated: 09/26/2026

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Found 28 publications

Increased Prevalence of Rare Copy Number Variants in Australian Children With Fetal Alcohol Spectrum Disorder: Experience in a State-Wide Diagnostic Service.

Increased Prevalence of Rare Copy Number Variants in Australian Children With Fetal Alcohol Spectrum Disorder: Experience in a State-Wide Diagnostic Service.

Journal: Alcohol, clinical & experimental research

Published: October 08, 2025

Pulmonary Artery Stenting for Widespread Distal Congenital Stenoses.

Pulmonary Artery Stenting for Widespread Distal Congenital Stenoses.

Journal: JACC. Case reports

Published: May 12, 2025

Assessing the unmet needs of genomic testing in Australia: a geospatial exploration.

Assessing the unmet needs of genomic testing in Australia: a geospatial exploration.

Journal: European journal of human genetics : EJHG

Published: June 16, 2024

DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants.

DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants.

Journal: Epigenomics

Published: May 30, 2023

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.

Journal: Brain : a journal of neurology

Published: August 26, 2022

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.

Journal: Molecular psychiatry

Published: April 05, 2022

A systematic review of geographical inequities for accessing clinical genomic and genetic services for non-cancer related rare disease.

A systematic review of geographical inequities for accessing clinical genomic and genetic services for non-cancer related rare disease.

Journal: European journal of human genetics : EJHG

Published: August 04, 2021

The prevalence and impact of orthostatic intolerance in young women across the hypermobility spectrum.

The prevalence and impact of orthostatic intolerance in young women across the hypermobility spectrum.

Journal: American journal of medical genetics. Part A

Published: June 02, 2021

Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.

Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.

Journal: Journal of medical genetics

Published: February 13, 2020

Mutations in the exocyst component EXOC2 cause severe defects in human brain development.

Mutations in the exocyst component EXOC2 cause severe defects in human brain development.

Journal: The Journal of experimental medicine

Published: October 29, 2019

Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.

Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.

Journal: Molecular genetics and metabolism

Published: October 21, 2019

Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.

Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.

Journal: Brain : a journal of neurology

Published: July 17, 2019

Showing 1-12 of 28

Last Updated: 09/26/2026