List of works - Natasha T Strande

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

scientific article published on 2 October 2017

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

scientific article published on 13 August 2015

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

scientific article published on 28 April 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

scientific article published in November 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.

scientific article published on 26 May 2016

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

scientific article published in February 2018

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

scientific article published on 12 November 2020

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

scientific article published on 24 May 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

scientific article published in PLoS ONE

Navigating the nuances of clinical sequence variant interpretation in Mendelian disease

scientific article published on 10 July 2018

Nonhomologous end joining: a good solution for bad ends

scientific article

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

scientific article published on 4 May 2015

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

scientific article published on 2 June 2016

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

scientific article published on July 2016

Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges

scientific article published on 18 May 2017

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

scientific article

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

scientific article published on 31 December 2012

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

scientific article published on 3 July 2014

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

scientific article

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

scientific article published on 8 March 2008

List of works by Natasha T Strande

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

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

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

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

ClinGen Allele Registry links information about genetic variants

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

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

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

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

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

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

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

Navigating the nuances of clinical sequence variant interpretation in Mendelian disease

Nonhomologous end joining: a good solution for bad ends

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

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

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

Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges

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

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

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

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

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