Publications by authors named "Janine Smith"

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Correction: Genetic Health Education in Adolescents with Congenital Heart Disease: A Patient, Parent, and Clinician Perspective.
Bridget R O'Malley, Janine Smith, Gary F Sholler, Julian Ayer, Gillian M Blue

Pediatr Cardiol· October 2025

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Genetic Health Education in Adolescents with Congenital Heart Disease: A Patient, Parent, and Clinician Perspective.
Bridget R O'Malley, Janine Smith, Gary F Sholler, Julian Ayer, Gillian M Blue

Pediatr Cardiol· September 2025

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The Evolving Landscape of CHD Genetics: A Contemporary Guide to Genetic Testing and Management.
Bridget R O'Malley, Gary F Sholler, Janine Smith, Gillian M Blue

J Paediatr Child Health· August 2025

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Outcomes and experiences of genetic testing in children with congenital heart disease.
Ansley M Morrish, Bridget R O'Malley, Desiree C K Hilton, Annabel E Webb, Bruce Bennetts, Janine Smith

J Med Genet· April 2025

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Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
Huw B Thomas, Leigh A M Demain, Alfredo Cabrera-Orefice, Isabelle Schrauwen, Hanan E Shamseldin, Thomas B Smith, Janine M Smith

Am J Hum Genet· April 2025

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Navigating an Uninformative Genomic Test Result: A Practical Guide.
Laura St Clair, Claire Wong, Christopher Elliot, Kristi J Jones, Margit Shah, Janine Smith

J Paediatr Child Health· March 2025

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Biallelic variants in cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
Huw B Thomas, Leigh A M Demain, Alfredo Cabrera-Orefice, Isabelle Schrauwen, Hanan E Shamseldin, Thomas B Smith, Janine M Smith

medRxiv· October 2024

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Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy.
Lisa G Riley, Subrata Sabui, Hamid M Said, Aram Niaz, Katta M Girisha, Janine Smith

Eur J Hum Genet· August 2024

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Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.
Kerith-Rae Dias, Rupendra Shrestha, Deborah Schofield, Carey-Anne Evans, Emily O'Heir, Janine Smith

Genet Med· May 2024

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Genomic multidisciplinary teams: A model for navigating genetic mainstreaming and precision medicine.
Alan Ma, Timothy P Newing, Rosie O'Shea, Akira Gokoolparsadh, Emma Murdoch, Janine Smith

J Paediatr Child Health· May 2024

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Genotype-phenotype correlations in paediatric and adolescent phaeochromocytoma and paraganglioma: a cross-sectional study.
Amanda Seabrook, Anand Vasudevan, Kristen Neville, Brigitte Gerstl, Diana Benn, Janine Smith

Arch Dis Child· February 2024

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Study of How Adiposity in Pregnancy has an Effect on outcomeS (SHAPES): protocol for a prospective cohort study.
Nicola Heslehurst, Raya Vinogradov, Giang T Nguyen, Theophile Bigirumurame, Dawn Teare, Janine Smith

BMJ Open· September 2023

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DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with / variants.
Niels Vos, Jack Reilly, Mariet W Elting, Philippe M Campeau, David Coman, Janine Smith

Epigenomics· March 2023

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Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease.
Richard G Lee, Shanti Balasubramaniam, Maike Stentenbach, Tom Kralj, Tim McCubbin, Janine Smith

Hum Mol Genet· October 2022

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A new era of genetic testing in congenital heart disease: A review.
Ansley M Morrish, Janine Smith, Annabelle Enriquez, Gary F Sholler, Jonathan Mervis

Trends Cardiovasc Med· July 2022

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Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies.
Benjamin M Nash, Alan Ma, Gladys Ho, Elizabeth Farnsworth, Andre E Minoche, Janine M Smith

Int J Mol Sci· March 2022

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Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Adam M Bournazos, Lisa G Riley, Shobhana Bommireddipalli, Lesley Ades, Lauren S Akesson, Janine M Smith, Richard J Smith

Genet Med· January 2022

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Current Practice of Genetic Testing and Counselling in Congenital Heart Disease: An Australian Perspective.
Gillian M Blue, Janine Smith, Gary F Sholler, Christopher Semsarian, David S Winlaw

Heart Lung Circ· November 2020

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

JAMA· June 2020

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A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.
Eric Lee, Trang Le, Ying Zhu, George Elakis, Anne Turner, Janine Smith

Genet Med· September 2018

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NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
Hongjun Shi, Annabelle Enriquez, Melissa Rapadas, Ella M M A Martin, Roni Wang, Janine Smith

N Engl J Med· August 2017

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Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
Stefanie Eggers, Simon Sadedin, Jocelyn A van den Bergen, Gorjana Robevska, Thomas Ohnesorg, Grahame Smith, Janine Smith

Genome Biol· November 2016

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Further delineation of the KAT6B molecular and phenotypic spectrum.
Tamsin Gannon, Rahat Perveen, Hélene Schlecht, Simon Ramsden, Beverley Anderson, Sarah Smithson, Janine Smith, Jill Clayton-Smith

Eur J Hum Genet· September 2015

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RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.
Nicole Revencu, Laurence M Boon, Antonella Mendola, Maria Rosa Cordisco, Josée Dubois, Janine Smith

Hum Mutat· December 2013

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Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.
Jill Clayton-Smith, James O'Sullivan, Sarah Daly, Sanjeev Bhaskar, Ruth Day, Philip Smith, Janine Smith

Am J Hum Genet· November 2011

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