Tessa R. Mattiske
Parkville, VIC, Australia
Last Updated: 09/26/2026
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Found 17 publications
Increased yield of genetic diagnoses in inherited heart diseases using expanded genome and RNA-splicing analyses.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 20, 2025
Consultation informs strategies for improving the use of functional evidence in variant classification.
Journal: American journal of human genetics
Published: January 13, 2025
Consultation informs strategies to improve functional evidence use in variant classification.
Journal: medRxiv : the preprint server for health sciences
Published: December 16, 2024
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
A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship.
Journal: Genetics in medicine open
Published: November 03, 2023
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.
Journal: American journal of human genetics
Published: November 20, 2022
Reporting clinically relevant genetic variants unrelated to genomic test requests: a survey of Australian clinical laboratory policies and practices.
Journal: Journal of medical genetics
Published: July 05, 2022
Early 17β-estradiol treatment reduces seizures but not abnormal behaviour in mice with expanded polyalanine tracts in the Aristaless related homeobox gene (ARX).
Journal: Neurobiology of disease
Published: August 18, 2020
Constraint and conservation of paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance.
Journal: Human mutation
Published: October 30, 2019
Extensive phenotyping of two ARX polyalanine expansion mutation mouse models that span clinical spectrum of intellectual disability and epilepsy.
Journal: Neurobiology of disease
Published: January 24, 2017
Last Updated: 09/26/2026