Janine M. Smith

Sydney, NSW, Australia

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 24 publications

Paediatric inherited arrhythmia clinic: developing a new model of care.

Paediatric inherited arrhythmia clinic: developing a new model of care.

Journal: BMJ paediatrics open

Published: December 16, 2025

Case Report: Deletion in the 5' untranslated region of TAFAZZIN in a boy with Barth syndrome.

Case Report: Deletion in the 5' untranslated region of TAFAZZIN in a boy with Barth syndrome.

Journal: Frontiers in cardiovascular medicine

Published: December 11, 2025

Correction: Genetic Health Education in Adolescents with Congenital Heart Disease: A Patient, Parent, and Clinician Perspective.

Correction: Genetic Health Education in Adolescents with Congenital Heart Disease: A Patient, Parent, and Clinician Perspective.

Journal: Pediatric cardiology

Published: October 31, 2025

Genetic Health Education in Adolescents with Congenital Heart Disease: A Patient, Parent, and Clinician Perspective.

Genetic Health Education in Adolescents with Congenital Heart Disease: A Patient, Parent, and Clinician Perspective.

Journal: Pediatric cardiology

Published: July 23, 2025

The Evolving Landscape of CHD Genetics: A Contemporary Guide to Genetic Testing and Management.

The Evolving Landscape of CHD Genetics: A Contemporary Guide to Genetic Testing and Management.

Journal: Journal of paediatrics and child health

Published: May 07, 2025

Finding a new rhythm: child health-related quality of life, parent psychological distress, and unmet needs among families of children with cardiac channelopathies.

Finding a new rhythm: child health-related quality of life, parent psychological distress, and unmet needs among families of children with cardiac channelopathies.

Journal: Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation

Published: February 16, 2025

Outcomes and experiences of genetic testing in children with congenital heart disease.

Outcomes and experiences of genetic testing in children with congenital heart disease.

Journal: Journal of medical genetics

Published: December 03, 2024

Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.

Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.

Journal: medRxiv : the preprint server for health sciences

Published: October 17, 2024

Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.

Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.

Journal: American journal of human genetics

Published: October 09, 2024

Navigating an Uninformative Genomic Test Result: A Practical Guide.

Navigating an Uninformative Genomic Test Result: A Practical Guide.

Journal: Journal of paediatrics and child health

Published: June 06, 2024

Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy.

Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy.

Journal: European journal of human genetics : EJHG

Published: January 03, 2024

Genomic multidisciplinary teams: A model for navigating genetic mainstreaming and precision medicine.

Genomic multidisciplinary teams: A model for navigating genetic mainstreaming and precision medicine.

Journal: Journal of paediatrics and child health

Published: October 19, 2023

Showing 1-12 of 24

Last Updated: 09/26/2026