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List of works by Dale Muzzey

Clinical experience across the fetal-fraction spectrum for a non-invasive prenatal screen with low test-failure rate

scientific article published on 31 October 2019

Clinical validity of expanded carrier screening: evaluating the gene-disease relationship in more than 200 conditions

scientific article published on 07 May 2020

Correction: Sequencing as a first-line methodology for cystic fibrosis carrier screening

scientific article published on 01 October 2019

Detecting clinically actionable variants in the 3' exons of PMS2 via a reflex workflow based on equivalent hybrid capture of the gene and its pseudogene

article

Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines

scientific article published on 29 June 2020

High-throughput fetal fraction amplification increases analytical performance of noninvasive prenatal screening

scientific article published on 15 November 2020

Inter-lab concordance of variant classifications establishes clinical validity of expanded carrier screening

scientific article published on 01 July 2019

Noninvasive prenatal screening for patients with high body mass index: Evaluating the impact of a customized whole genome sequencing workflow on sensitivity and residual risk

scientific article published on 20 December 2019

Response to "Noninvasive prenatal screening at low fetal fraction: comparing whole-genome sequencing and single-nucleotide polymorphism methods".

scientific article

Screening for Tay-Sachs disease carriers by full-exon sequencing with novel variant interpretation outperforms enzyme testing in a pan-ethnic cohort

scientific article published on 10 July 2019

Sequencing as a first-line methodology for cystic fibrosis carrier screening

scientific article published on 30 April 2019

Strategies to minimize false positives and interpret novel microdeletions based on maternal copy-number variants in 87,000 noninvasive prenatal screens

scientific article published on 19 October 2018

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