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Author Details

Natasha T Strande
USA Autism and Developmental Medicine Institute
2008
36
23
PMIDPaper TitleJournal TitlePublished Year
36574950Individuals heterozygous for ALG8 protein-truncating variants are at increased risk of a mild cystic kidney disease.Kidney Int2023
37639356Risk of Nephrolithiasis in Adults Heterozygous for SLC34A3 Ser192Leu in an Unselected Health System Cohort.J Am Soc Nephrol2023
37382153Yield of Familial Hypercholesterolemia Genetic and Phenotypic Diagnoses After Electronic Health Record and Genomic Data Screening.J Am Heart Assoc2023
36692560Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population.JAMA2023
35051175Massively parallel reporter assays discover de novo exonic splicing mutants in paralogs of Autism genes.PLoS Genet2022
35692820A RE-AIM Framework Analysis of DNA-Based Population Screening: Using Implementation Science to Translate Research Into Practice in a Healthcare System.Front Genet2022
33480803Developing and Optimizing Innovative Tools to Address Familial Hypercholesterolemia Underdiagnosis: Identification Methods, Patient Activation, and Cascade Testing for Familial Hypercholesterolemia.Circ Genom Precis Med2021
33576083Leveraging population-based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research project.Am J Med Genet C Semin Med Genet2021
32555414Correction: An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.Genet Med2020
31974414An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.Genet Med2020
32853555Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project.Am J Hum Genet2020
30681346Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.Circ Genom Precis Med2019
30851990An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening.J Pediatr2019
29593351"Possibly positive or certainly uncertain?": participants' responses to uncertain diagnostic results from exome sequencing.Genet Med2018
30133189Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience.Mol Genet Genomic Med2018
29988079Navigating the nuances of clinical sequence variant interpretation in Mendelian disease.Genet Med2018
30311374ClinGen Allele Registry links information about genetic variants.Hum Mutat2018
30557390Increasing the diagnostic yield of exome sequencing by copy number variant analysis.PLoS One2018
30275001Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case.Cold Spring Harb Mol Case Stud2018
29417091Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders.Neurol Genet2018
28518170Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges.Genet Med2017
28552198Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.Am J Hum Genet2017
27181684Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.Am J Hum Genet2016
26270767A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing.Genet Med2016
27124788A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation.Genet Med2016
27362341Defining the Clinical Value of a Genomic Diagnosis in the Era of Next-Generation Sequencing.Annu Rev Genomics Hum Genet2016
27392081Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.Am J Hum Genet2016
25941401Organization and dynamics of the nonhomologous end-joining machinery during DNA double-strand break repair.Proc Natl Acad Sci U S A2015
25920937The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review.Am J Med Genet A2015
24630899Nonhomologous end joining: a good solution for bad ends.DNA Repair (Amst)2014
25200085Requirements for 5'dRP/AP lyase activity in Ku.Nucleic Acids Res2014
24989324The fidelity of the ligation step determines how ends are resolved during nonhomologous end joining.Nat Commun2014
22362780Specificity of the dRP/AP lyase of Ku promotes nonhomologous end joining (NHEJ) fidelity at damaged ends.J Biol Chem2012
23276302Resolution of complex ends by Nonhomologous end joining - better to be lucky than good?Genome Integr2012
20383123Ku is a 5'-dRP/AP lyase that excises nucleotide damage near broken ends.Nature2010
18327589UV sensitive mutations in histone H3 in Saccharomyces cerevisiae that alter specific K79 methylation states genetically act through distinct DNA repair pathways.Curr Genet2008
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Collaborators

Jonathan S Berg
University of North Carolina
Co-authored papers 18
Karen E Weck
University of North Carolina at Chapel Hill
Co-authored papers 9
James P Evans
University of North Carolina
Co-authored papers 8
Kirk C Wilhelmsen
West Virginia University
Co-authored papers 7
Leslie G Biesecker
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 4
Marc S Williams
University of Washington Medical Center
Co-authored papers 4
Sharon E Plon
Baylor College of Medicine
Co-authored papers 4
Christa Lese Martin
Autism and Developmental Medicine Institute
Co-authored papers 4
Adam H Buchanan
Genomic Medicine Institute, Geisinger Medical Center
Co-authored papers 4
Heidi L Rehm
The Broad Institute of MIT and Harvard
Co-authored papers 4
Chris Bizon
Renaissance Computing Institute (RENCI), University of North Carolina at Chapel Hill
Co-authored papers 4
Laura K Conlin
Children's Hospital of Philadelphia
Co-authored papers 3
Laura M Amendola
Illumina Inc.
Co-authored papers 3
Steven A Roberts
Co-authored papers 3
Carolyn Sue Richards
Oregon Health & Science University (OHSU)
Co-authored papers 3
Arezou A Ghazani
Brigham and Women's Hospital, USA Harvard Medical School
Co-authored papers 3
Kristy Lee
The University of North Carolina at Chapel Hill
Co-authored papers 3
Gregory M Cooper
HudsonAlpha Institute for Biotechnology
Co-authored papers 3
Amy C Sturm
Genomic Medicine Institute, USA Heart and Vascular Institute
Co-authored papers 3
Aleksandar Milosavljevic
Baylor College of Medicine
Co-authored papers 3
Robert C Green
Brigham and Women's Hospital, Broad Institute Ariadne Labs and Harvard Medical School
Co-authored papers 3
Gail P Jarvik
University of Washington Medical Center
Co-authored papers 3
Ronak Y Patel
Baylor College of Medicine
Co-authored papers 3
Lori A Ramkissoon
Co-authored papers 3
Kevin M Bowling
Washington University School of Medicine
Co-authored papers 3
Yaping Yang
Baylor College of Medicine
Co-authored papers 3
Matthew C Dulik
Children's Hospital of Philadelphia, University of Pennsylvania
Co-authored papers 3
Sawona Biswas
University of California San Francisco
Co-authored papers 3
Mathew W Wright
Stanford University School of Medicine
Co-authored papers 2
Selina S Dwight
Stanford University School of Medicine
Co-authored papers 2
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