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Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 9, 2024
Determining priority indicators of utility for genomic testing in rare disease: A Delphi studyZoe Fehlberg, Ilias Goranitis, Andrew J Mallett, et al.European Journal of Human Genetics : EJHG|February 18, 2011
Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspringZornitza Stark, Rebecca Storen, Bruce Bennetts, et al.Journal of Medical Ethics|June 10, 2016
Predictive genetic testing for neurodegenerative conditions: how should conflicting interests within families be managed?Zornitza Stark, Jane Wallace, Lynn Gillam, et al.European Journal of Human Genetics : EJHG|August 11, 2022
Genetics follow up after rapid genomic sequencing in intensive care: current practices and recommendations for service deliveryFiona Lynch, Amy Nisselle, Zornitza Stark, et al.European Journal of Human Genetics : EJHG|August 24, 2021
Parents' experiences of decision making for rapid genomic sequencing in intensive careFiona Lynch, Amy Nisselle, Zornitza Stark, et al.NPJ Genomic Medicine|November 8, 2024
Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New ZealandDenis M Nyaga, Peter Tsai, Clare Gebbie, et al.Genome Medicine|July 29, 2015
Cpipe: a shared variant detection pipeline designed for diagnostic settingsSimon P Sadedin, Harriet Dashnow, Paul A James, et al.Human Mutation|September 9, 2020
Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonateLauren S Akesson, Adam Bournazos, Andrew Fennell, et al.Clinical and Translational Science|August 10, 2024
Benchmarking pharmacogenomics genotyping tools: Performance analysis on short-read sequencing samples and depth-dependent evaluationAndreas Halman, Sebastian Lunke, Simon Sadedin, et al.Human Genomics|August 8, 2023
The application of long-read sequencing in clinical settingsJosephine B Oehler, Helen Wright, Zornitza Stark, et al.Pageof 29