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Lista de obras de Natasha T Strande

"Possibly positive or certainly uncertain?": participants' responses to uncertain diagnostic results from exome sequencing.

artículo científico publicado en 2017

A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing

artículo científico publicado en 2015

A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation.

artículo científico publicado en 2016

Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience

scientific article published on 21 August 2018

ClinGen Allele Registry links information about genetic variants

artículo científico publicado en 2018

Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case

scientific article published on 01 October 2018

Defining the Clinical Value of a Genomic Diagnosis in the Era of Next-Generation Sequencing.

artículo científico publicado en 2016

Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders.

artículo científico publicado en 2018

Electronic health record analysis identifies kidney disease as the leading risk factor for hospitalization in confirmed COVID-19 patients

artículo científico publicado en 2020

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource

artículo científico publicado en 2017

Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome Resource

article

Increasing the diagnostic yield of exome sequencing by copy number variant analysis

artículo científico publicado en 2018

Navigating the nuances of clinical sequence variant interpretation in Mendelian disease

artículo científico publicado en 2018

Nonhomologous end joining: a good solution for bad ends

artículo científico publicado en 2014

Organization and dynamics of the nonhomologous end-joining machinery during DNA double-strand break repair

artículo científico publicado en 2015

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

artículo científico publicado en 2016

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

artículo científico publicado en 2016

Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges

artículo científico publicado en 2017

Requirements for 5'dRP/AP lyase activity in Ku.

artículo científico publicado en 2014

Resolution of complex ends by Nonhomologous end joining - better to be lucky than good?

artículo científico publicado en 2012

Specificity of the dRP/AP Lyase of Ku Promotes Nonhomologous End Joining (NHEJ) Fidelity at Damaged Ends ⬇️

artículo científico publicado el 23 de febrero de 2012

The fidelity of the ligation step determines how ends are resolved during nonhomologous end joining.

artículo científico publicado en 2014

The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review.

artículo científico publicado en 2015

UV sensitive mutations in histone H3 in Saccharomyces cerevisiae that alter specific K79 methylation states genetically act through distinct DNA repair pathways

artículo científico publicado en 2008

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