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BMC Public Health|August 5, 2017
Cluster randomised trial of a school-community child health promotion and obesity prevention intervention: findings from the evaluation of fun 'n healthy in Moreland!Elizabeth Waters, Lisa Gibbs, Maryanne Tadic, et al.
Human Mutation|November 22, 2021
Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH)Soodabeh Sarafrazi, Sean C Daugherty, Nicole Miller, et al.
American Journal of Human Genetics|March 18, 2023
Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individualsRebecca Truty, Susan Rojahn, Karen Ouyang, et al.
BMJ Open|March 14, 2014
An exploratory trial implementing a community-based child oral health promotion intervention for Australian families from refugee and migrant backgrounds: a protocol paper for Teeth TalesLisa Gibbs, Elizabeth Waters, Andrea de Silva, et al.
JAMA Network Open|October 25, 2023
Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic TestingElaine Chen, Flavia M Facio, Kerry W Aradhya, et al.
Human Genetics|July 31, 2024
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classificationSamskruthi Reddy Padigepati, David A Stafford, Christopher A Tan, et al.
Epilepsia Open|August 24, 2019
Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsyRebecca Truty, Nila Patil, Raman Sankar, et al.
American Journal of Human Genetics|December 6, 2024
A missense variant effect map for the human tumor-suppressor protein CHK2Marinella Gebbia, Daniel Zimmerman, Rosanna Jiang, et al.
American Journal of Medical Genetics. Part A|May 15, 2025
Perspectives on the Current and Future State of Artificial Intelligence in Medical GeneticsBenjamin D Solomon, Morgan Cheatham, Thales A C de Guimarães, et al.
Molecular Genetics & Genomic Medicine|October 17, 2022
Scalable detection of technically challenging variants through modified next-generation sequencingSusan Rojahn, Tina Hambuch, Jessika Adrian, et al.
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