| 37777873 | Response to Lombardi and Mesnard. | Genet Med | 2024 |
| 37864047 | Rapid genomic testing in critically ill patients with genetic conditions: position statement by the Human Genetics Society of Australasia. | Eur J Hum Genet | 2024 |
| 37982373 | Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms. | Genet Med | 2024 |
| 36939042 | Microcosting diagnostic genomic sequencing: AÂ systematic review. | Genet Med | 2023 |
| 37596007 | Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study. | Lancet Neurol | 2023 |
| 37489581 | Genomic testing for suspected monogenic kidney disease in children and adults: A health economic evaluation. | Genet Med | 2023 |
| 37553611 | The application of long-read sequencing in clinical settings. | Hum Genomics | 2023 |
| 37587497 | Determining the utility of diagnostic genomics: a conceptual framework. | Hum Genomics | 2023 |
| 37873196 | Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease. | medRxiv | 2023 |
| 37291213 | Integrated multi-omics for rapid rare disease diagnosis on a national scale. | Nat Med | 2023 |
| 37386126 | Genomic newborn screening for rare diseases. | Nat Rev Genet | 2023 |
| 37249002 | DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with <i>KAT6A</i>/<i>KAT6B</i> variants. | Epigenomics | 2023 |
| 37075751 | POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies. | Am J Hum Genet | 2023 |
| 37371202 | Intensive Care Clinicians' Perspectives on Ethical Challenges Raised by Rapid Genomic Testing in Critically Ill Infants. | Children (Basel) | 2023 |
| 37238372 | Rapid Genomic Testing in Intensive Care: Health Professionals' Perspectives on Ethical Challenges. | Children (Basel) | 2023 |
| 37400487 | Uptake of funded genomic testing for syndromic and non-syndromic intellectual disability in Australia. | Eur J Hum Genet | 2023 |
| 37270192 | Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocol. | BMJ Open | 2023 |
| 37133451 | Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease. | Hum Mol Genet | 2023 |
| 37165955 | Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders. | Genet Med | 2023 |
| 37066232 | Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms. | medRxiv | 2023 |
| 37092873 | Rapid whole-genome sequencing leading to specific treatment for two infants with haemophagocytic lymphohistiocytosis due to Wolman disease. | Pediatr Blood Cancer | 2023 |
| 36446895 | Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability. | Eur J Hum Genet | 2023 |
| 36720500 | The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance. | Life Sci Alliance | 2023 |
| 36868206 | Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare. | Am J Hum Genet | 2023 |
| 36732660 | Elusive variants in autosomal recessive disease: how can we improve timely diagnosis? | Eur J Hum Genet | 2023 |
| 34740920 | Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program. | J Med Genet | 2022 |
| 35381620 | Methyl-CpG binding domain 4, DNA glycosylase (MBD4)-associated neoplasia syndrome associated with a homozygous missense variant in MBD4: Expansion of an emerging phenotype. | Br J Haematol | 2022 |
| 35507016 | The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. | Genet Med | 2022 |
| 35348259 | Neonatal Bartter syndrome diagnosed by rapid genomics following low risk pre-conception carrier screening. | J Paediatr Child Health | 2022 |
| 35433172 | Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studies. | JIMD Rep | 2022 |
| 35831422 | 'Diagnostic shock': the impact of results from ultrarapid genomic sequencing of critically unwell children on aspects of family functioning. | Eur J Hum Genet | 2022 |
| 35721054 | The HIDDEN Protocol: An Australian Prospective Cohort Study to Determine the Utility of Whole Genome Sequencing in Kidney Failure of Unknown Aetiology. | Front Med (Lausanne) | 2022 |
| 35848937 | Can Rapid Nanopore Sequencing Bring Genomic Testing to the Bedside? | Clin Chem | 2022 |
| 36408368 | A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder. | HGG Adv | 2022 |
| 36443237 | Rapid Genome Sequencing: Consent for New Technologies in the Neonatal Intensive Care Context. | Pediatrics | 2022 |
| 35908231 | Genomic testing in premature ovarian insufficiency: proceed with caution. | Biol Reprod | 2022 |
| 36272999 | Co-design, implementation, and evaluation of plain language genomic test reports. | NPJ Genom Med | 2022 |
| 36367278 | The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome. | Am J Med Genet A | 2022 |
| 36332611 | Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation. | Am J Hum Genet | 2022 |
| 35953518 | Genetics follow up after rapid genomic sequencing in intensive care: current practices and recommendations for service delivery. | Eur J Hum Genet | 2022 |
| 36292804 | Theory Designed Strategies to Support Implementation of Genomics in Nephrology. | Genes (Basel) | 2022 |
| 36292688 | Participant Choice towards Receiving Potential Additional Findings in an Australian Nephrology Research Genomics Study. | Genes (Basel) | 2022 |
| 36085161 | The role of exome sequencing in childhood interstitial or diffuse lung disease. | Orphanet J Rare Dis | 2022 |
| 35254387 | Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review. | JAMA Neurol | 2022 |
| 35181209 | Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children. | Genet Med | 2022 |
| 35147173 | Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease. | Hum Mol Genet | 2022 |
| 35055180 | Biallelic Variants in <i>PYROXD2</i> Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function. | Int J Mol Sci | 2022 |
| 35165146 | Ethylmalonic encephalopathy masquerading as meningococcemia. | Cold Spring Harb Mol Case Stud | 2022 |
| 34542157 | Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia. | Hum Mol Genet | 2022 |
| 34744166 | Rapid genomic testing for critically ill children: time to become standard of care? | Eur J Hum Genet | 2022 |