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Author Details

Rebecca Truty
Invitae Corporation
2012
37
17
PMIDPaper TitleJournal TitlePublished Year
36933558Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals.Am J Hum Genet2023
34622392Re-evaluating cancer risks associated with the CHEK2 p.Ser428Phe Ashkenazi Jewish founder pathogenic variant.Fam Cancer2022
35474188Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease.Epilepsia2022
35570716Systematic use of phenotype evidence in clinical genetic testing reduces the frequency of variants of uncertain significance.Am J Med Genet A2022
36251442Scalable detection of technically challenging variants through modified next-generation sequencing.Mol Genet Genomic Med2022
35051411The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis.Lancet Respir Med2022
34633109Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program.J Bone Miner Res2022
34806794Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH).Hum Mutat2022
34714385Comprehensive Genetic Testing for Pediatric Hypertrophic Cardiomyopathy Reveals Clinical Management Opportunities and Syndromic Conditions.Pediatr Cardiol2022
33300982Prioritizing genes for systematic variant effect mapping.Bioinformatics2021
33743207Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation.Am J Hum Genet2021
33517668Common Variants in <i>KCNE1, KCNH2</i>, and <i>SCN5A</i> May Impact Cardiac Arrhythmia Risk.Circ Genom Precis Med2021
34926809Multigene Panel Testing in a Large Cohort of Adults With Epilepsy: Diagnostic Yield and Clinically Actionable Genetic Findings.Neurol Genet2021
34459253<i>ATP1A3</i>-Encoded Sodium-Potassium ATPase Subunit Alpha 3 D801N Variant Is Associated With Shortened QT Interval and Predisposition to Ventricular Fibrillation Preceded by Bradycardia.J Am Heart Assoc2021
34037665Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.JAMA Cardiol2021
34007000One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation.Genet Med2021
34196078Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR.Hum Mutat2021
34113002PIGG variant pathogenicity assessment reveals characteristic features within 19 families.Genet Med2021
34025568SMA Identified: Clinical and Molecular Findings From a Sponsored Testing Program for Spinal Muscular Atrophy in More Than 2,000 Individuals.Front Neurol2021
32462469Jeffrey's insights: Jeffrey Modell Foundation's global genetic sequencing pilot program to identify specific primary immunodeficiency defects to optimize disease management and treatment.Immunol Res2020
32573057Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing.Am J Med Genet A2020
32721234Incorporating Spinal Muscular Atrophy Analysis by Next-Generation Sequencing into a Comprehensive Multigene Panel for Neuromuscular Disorders.Genet Test Mol Biomarkers2020
32337338Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders.Neurol Genet2020
30610921A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing-Detected Variants with an Orthogonal Method in Clinical Genetic Testing.J Mol Diagn2019
29895855Prevalence and properties of intragenic copy-number variation in Mendelian disease genes.Genet Med2019
31440721Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.Epilepsia Open2019
31270959Recurring large deletion in DRC1 (CCDC164) identified as causing primary ciliary dyskinesia in two Asian patients.Mol Genet Genomic Med2019
31610925Frequency of Cystic Fibrosis Transmembrane Conductance Regulator Variants in Individuals Evaluated for Primary Ciliary Dyskinesia.J Pediatr2019
30899106Author Correction: Best practices for benchmarking germline small-variant calls in human genomes.Nat Biotechnol2019
30858580Best practices for benchmarking germline small-variant calls in human genomes.Nat Biotechnol2019
30936564An open resource for accurately benchmarking small variant and reference calls.Nat Biotechnol2019
28315672Principles and Recommendations for Standardizing the Use of the Next-Generation Sequencing Variant File in Clinical Settings.J Mol Diagn2017
27064255Enhancer-promoter interactions are encoded by complex genomic signatures on looping chromatin.Nat Genet2016
27271295Extensive sequencing of seven human genomes to characterize benchmark reference materials.Sci Data2016
24967590Integrating diverse datasets improves developmental enhancer prediction.PLoS Comput Biol2014
22719826Novel bacterial taxa in the human microbiome.PLoS One2012
22981692Dynamic and coordinated epigenetic regulation of developmental transitions in the cardiac lineage.Cell2012
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Collaborators

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National Center for Biotechnology Information, National Institutes of Health
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Tina Hambuch
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John A Capra
Bakar Computational Health Sciences Institute, University of California san francisco
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Peter Krusche
Novartis Pharma AG
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Jennifer McDaniel
National Institute of Standards and Technology
Co-authored papers 2
George Asimenos
Co-authored papers 2
Chunlin Xiao
Chongqing Aier Eye Hospital
Co-authored papers 2
Samir Lababidi
Co-authored papers 1
Sarah M Nielsen
Invitae Corporation
Co-authored papers 1
Daniel J Rader
Co-authored papers 1
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