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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. 2020; 323: 2503-2511https://doi.org/10.1001/jama.2020.7671
- Genome sequencing in congenital cataracts improves diagnostic yield.Hum Mutat. 2021; 42: 1173-1183https://doi.org/10.1002/humu.24240
- Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era.BMC Med Genomics. 2021; 14: 148https://doi.org/10.1186/s12920-021-00993-0
- Reporting practices for variants of uncertain significance from next generation sequencing technologies.Eur J Med Genet. 2017; 60: 553-558https://doi.org/10.1016/j.ejmg.2017.07.016
- Performance of ACMG-AMP variant-interpretation guidelines among nine laboratories in the Clinical Sequencing Exploratory Research Consortium.Am J Hum Genet. 2016; 98 (Published correction appears in Am J Hum Genet. 2016;99(1):247): 1067-1076https://doi.org/10.1016/j.ajhg.2016.03.024
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- Variant classification concordance using the ACMG-AMP variant interpretation guidelines across nine genomic implementation research studies.Am J Hum Genet. 2020; 107: 932-941https://doi.org/10.1016/j.ajhg.2020.09.011
- ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.Hum Mutat. 2018; 39: 1614-1622https://doi.org/10.1002/humu.23645
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- An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.Genome Biol. 2014; 15: R53https://doi.org/10.1186/gb-2014-15-3-r53
- Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).Genet Med. 2021; 23: 1399-1415https://doi.org/10.1038/s41436-021-01139-4
- ACGS best practice guidelines for variant classification in rare disease 2020. Association for Clinical Genomic Science, version 4.01. Published February 2, 2020.https://www.acgs.uk.com/media/11631/uk-practice-guidelines-for-variant-classification-v4-01-2020.pdf(Accessed July 1, 2021)
- Exploration of genetic health professional—laboratory specialist interactions in diagnostic genomic sequencing.Eur J Med Genet. 2020; 63: 103749https://doi.org/10.1016/j.ejmg.2019.103749
- Analysis of laboratory reporting practices using a quality assessment of a virtual patient.Genet Med. 2021; 23: 562-570https://doi.org/10.1038/s41436-020-01015-7
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- Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.Genet Med. 2021; 23: 1715-1725https://doi.org/10.1038/s41436-021-01196-9
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