Publications by authors named "Natasha Strande"

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Increased colorectal and endometrial cancer rates in a genomically ascertained Lynch syndrome cohort.
Miranda L G Hallquist, Juliann M Savatt, Kristy Diloreto, Alicia Johns, Amie Decker, Natasha T Strande

JNCI Cancer Spectr· July 2025

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Rare missense variants in are associated with severe adolescent idiopathic scoliosis.
Wu-Lin Charng, Gabe Haller, Julia Whittle, Momchil Nikolov, Addison Avery, Natasha T Strande

J Med Genet· June 2025

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Single Antisense Oligonucleotides Correct Diverse Splicing Mutations in Hotspot Exons.
Chaorui Duan, Stephen Rong, Luke Buerer, Christopher R Neil, Yu Zhong, Natasha T Strande

Proc Natl Acad Sci U S A· June 2025

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Artifacts, Not Differences in Sex Development, Are the Predominant Cause of Phenotypic Sex Discordance With Prenatal Cell-Free DNA Screening: A Review of 33 Cases.
Qiliang Ding, Nicole L Hoppman, Erik C Thorland, Cherisse A Marcou, Nicole J Boczek, Natasha T Strande

Prenat Diagn· May 2025

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Monogenic disorders associated with motor speech phenotypes in children and adolescents undergoing clinical exome sequencing.
Marissa W Mitchel, Matthew Oetjens, Alexander S F Berry, Alicia Johns, Andrés Moreno-De-Luca, Natasha T Strande

Genet Med· April 2025

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Genomic Screening at a Single Health System.
Juliann M Savatt, Melissa A Kelly, Amy C Sturm, Cara Z McCormick, Marc S Williams, Natasha T Strande

JAMA Netw Open· March 2025

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One-Size-Fits-Many: Antisense oligonucleotides for rescuing splicing mutations in hotspot exons.
Chaorui Duan, Stephen Rong, Luke Buerer, Christopher R Neil, Juliann M Savatt, Natasha T Strande

bioRxiv· December 2024

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Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms.
Matt W Wright, Courtney L Thaxton, Tristan Nelson, Marina T DiStefano, Juliann M Savatt, Natasha T Strande

Annu Rev Biomed Data Sci· August 2024

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Genome-first approach of the prevalence and cancer phenotypes of pathogenic or likely pathogenic germline TP53 variants.
Kelvin C de Andrade, Natasha T Strande, Jung Kim, Jeremy S Haley, Jessica N Hatton

HGG Adv· January 2024

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Risk of Nephrolithiasis in Adults Heterozygous for SLC34A3 Ser192Leu in an Unselected Health System Cohort.
Chinedu Nwachukwu, Gurmukteshwar Singh, Bryn Moore, Natasha T Strande, Ion D Bucaloiu

J Am Soc Nephrol· November 2023

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The Phenotypic Spectrum of Heterozygotes.
Kaushal V Solanki, Yirui Hu, Bryn S Moore, Vida Abedi, Venkatesh Avula, Natasha T Strande

Kidney Int Rep· October 2023

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Yield of Familial Hypercholesterolemia Genetic and Phenotypic Diagnoses After Electronic Health Record and Genomic Data Screening.
Samuel S Gidding, H Lester Kirchner, Andrew Brangan, William Howard, Melissa A Kelly, Natasha T Strande

J Am Heart Assoc· July 2023

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The Phenotypic Spectrum of Heterozygotes.
Kaushal V Solanki, Yirui Hu, Bryn S Moore, Vida Abedi, Venkatesh Avula, Natasha T Strande

medRxiv· April 2023

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Individuals heterozygous for ALG8 protein-truncating variants are at increased risk of a mild cystic kidney disease.
Benjamin Apple, Gino Sartori, Bryn Moore, Kiran Chintam, Gurmukteshwar Singh, Natasha T Strande

Kidney Int· March 2023

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Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population.
David B Beck, Dale L Bodian, Vandan Shah, Uyenlinh L Mirshahi, Jung Kim, Natasha T Strande

JAMA· January 2023

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Frequency of truncating FLCN variants and Birt-Hogg-Dubé-associated phenotypes in a health care system population.
Juliann M Savatt, Hermela Shimelis, Andres Moreno-De-Luca, Natasha T Strande, Matthew T Oetjens

Genet Med· September 2022

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A RE-AIM Framework Analysis of DNA-Based Population Screening: Using Implementation Science to Translate Research Into Practice in a Healthcare System.
Laney K Jones, Natasha T Strande, Evan M Calvo, Jingheng Chen, Gabriela Rodriguez

Front Genet· May 2022

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Massively parallel reporter assays discover de novo exonic splicing mutants in paralogs of Autism genes.
Christy L Rhine, Christopher Neil, Jing Wang, Samantha Maguire, Luke Buerer, Natasha T Strande

PLoS Genet· January 2022

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Leveraging population-based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research project.
Melissa A Kelly, Joseph B Leader, Karen E Wain, Dale Bodian, Matthew T Oetjens, Natasha T Strande

Am J Med Genet C Semin Med Genet· March 2021

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Developing and Optimizing Innovative Tools to Address Familial Hypercholesterolemia Underdiagnosis: Identification Methods, Patient Activation, and Cascade Testing for Familial Hypercholesterolemia.
Gemme Campbell-Salome, Laney K Jones, Max F Masnick, Nephi A Walton, Catherine D Ahmed, Natasha T Strande

Circ Genom Precis Med· February 2021

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Electronic health record analysis identifies kidney disease as the leading risk factor for hospitalization in confirmed COVID-19 patients.
Matthew T Oetjens, Jonathan Z Luo, Alexander Chang, Joseph B Leader, Dustin N Hartzel, Natasha T Strande

PLoS One· November 2020

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Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project.
Tamara S Roman, Stephanie B Crowley, Myra I Roche, Ann Katherine M Foreman, Julianne M O'Daniel, Natasha T Strande

Am J Hum Genet· October 2020

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Correction: An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.
Neeta L Vora, Kelly Gilmore, Alicia Brandt, Chelsea Gustafson, Natasha Strande

Genet Med· August 2020

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An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.
Neeta L Vora, Kelly Gilmore, Alicia Brandt, Chelsea Gustafson, Natasha Strande

Genet Med· May 2020

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An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening.
Laura V Milko, Julianne M O'Daniel, Daniela M DeCristo, Stephanie B Crowley, Ann Katherine M Foreman, Natasha T Strande

J Pediatr· June 2019

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