Naomi L. Baker

Melbourne, VIC, Australia

Last Updated: 09/26/2026

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Found 13 publications

Mainstreaming genomic testing for mitochondrial disease in Australia.

Mainstreaming genomic testing for mitochondrial disease in Australia.

Journal: European journal of human genetics : EJHG

Published: November 18, 2025

Variant interpretation training for the genomics era: Learning outcomes to inform professional competencies and education.

Variant interpretation training for the genomics era: Learning outcomes to inform professional competencies and education.

Journal: American journal of human genetics

Published: November 17, 2025

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Journal: Nature genetics

Published: June 16, 2024

The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses.

The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses.

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

Published: April 04, 2024

Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.

Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.

Journal: Brain communications

Published: May 29, 2023

Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.

Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.

Journal: American journal of human genetics

Published: June 15, 2022

Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice.

Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice.

Journal: Developmental medicine and child neurology

Published: December 21, 2021

Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases.

Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases.

Journal: Genes

Published: March 19, 2021

Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.

Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.

Journal: American journal of human genetics

Published: August 04, 2017

Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology.

Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology.

Journal: Molecular syndromology

Published: August 10, 2016

Clinical and Molecular Characterisation of Children with Pierre Robin Sequence and Additional Anomalies.

Clinical and Molecular Characterisation of Children with Pierre Robin Sequence and Additional Anomalies.

Journal: Molecular syndromology

Published: July 25, 2016

Co-option of the cardiac transcription factor Nkx2.5 during development of the emu wing.

Co-option of the cardiac transcription factor Nkx2.5 during development of the emu wing.

Journal: Nature communications

Published: May 11, 2016

Showing 1-12 of 13

Last Updated: 09/26/2026