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Author Details

Kathryn E Hatchell
Invitae Corporation
2018
30
7
PMIDPaper TitleJournal TitlePublished Year
38071479Early genetic testing in pediatric epilepsy: Diagnostic and cost implications.Epilepsia Open2024
38088168Real-World Genetic Testing Utilization Among Patients With Cardiomyopathy.Circ Genom Precis Med2024
36773955Fumarate Hydratase Variants and Their Association With Paraganglioma/Pheochromocytoma.Urology2023
37878314Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing.JAMA Netw Open2023
37574391Efficacy of National Comprehensive Cancer Network Guidelines in Identifying Pathogenic Germline Variants Among Unselected Patients with Prostate Cancer: The PROCLAIM Trial.Eur Urol Oncol2023
37535880Retrospective Cohort Study on the Limitations of Direct-to-Consumer Genetic Screening in Hereditary Breast and Ovarian Cancer.JCO Precis Oncol2023
37534744The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.Genet Med2023
37156429Racial disparities in cascade testing for cancer predisposition genes.Prev Med2023
34622392Re-evaluating cancer risks associated with the CHEK2 p.Ser428Phe Ashkenazi Jewish founder pathogenic variant.Fam Cancer2022
35488122Correction: Germline alterations among Hispanic men with prostate cancer.Prostate Cancer Prostatic Dis2022
35783293The Impact of Proband Indication for Genetic Testing on the Uptake of Cascade Testing Among Relatives.Front Genet2022
36497357Ashkenazi Jewish and Other White <i>APC</i> I1307K Carriers Are at Higher Risk for Multiple Cancers.Cancers (Basel)2022
36315135Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.JAMA Neurol2022
36279135Comparison of Germline Genetic Testing Before and After a Medical Policy Covering Universal Testing Among Patients With Colorectal Cancer.JAMA Netw Open2022
36370464Multigene Panel Testing Yields High Rates of Clinically Actionable Variants Among Patients With Colorectal Cancer.JCO Precis Oncol2022
35867948Germline Pathogenic Variant Prevalence Among Latin American and US Hispanic Individuals Undergoing Testing for Hereditary Breast and Ovarian Cancer: A Cross-Sectional Study.JCO Glob Oncol2022
36094610Cancer risks associated with heterozygous ATM loss of function and missense pathogenic variants based on multigene panel analysis.Breast Cancer Res Treat2022
35947370Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.JAMA Cardiol2022
34949788CDH1 germline variants are enriched in patients with colorectal cancer, gastric cancer, and breast cancer.Br J Cancer2022
35128484Clinical validation of genomic functional screen data: Analysis of observed <i>BRCA1</i> variants in an unselected population cohort.HGG Adv2022
35228665Germline alterations among Hispanic men with prostate cancer.Prostate Cancer Prostatic Dis2022
34724198Fumarate hydratase variant prevalence and manifestations among individuals receiving germline testing.Cancer2022
34250406Multigene Panel Testing in Individuals With Hepatocellular Carcinoma Identifies Pathogenic Germline Variants.JCO Precis Oncol2021
34735417Hereditary Cancer Risk Using a Genetic Chatbot Before Routine Care Visits.Obstet Gynecol2021
34732190Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.BMC Med2021
34585040Underdiagnosis of Hereditary Colorectal Cancers Among Medicare Patients: Genetic Testing Criteria for Lynch Syndrome Miss the Mark.JCO Precis Oncol2021
31830327Multi-ethnic analysis shows genetic risk and environmental predictors interact to influence 25(OH)D concentration and optimal vitamin D intake.Genet Epidemiol2020
31342140Ancestry-specific polygenic scores and SNP heritability of 25(OH)D in African- and European-ancestry populations.Hum Genet2019
31355794In Vivo Forward Genetic Screen to Identify Novel Neuroprotective Genes in Drosophila melanogaster.J Vis Exp2019
29325163Transethnic Evaluation Identifies Low-Frequency Loci Associated With 25-Hydroxyvitamin D Concentrations.J Clin Endocrinol Metab2018
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Collaborators

Edward D Esplin
Invitae Corporation
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Sarah M Nielsen
Invitae Corporation
Co-authored papers 16
Robert L Nussbaum
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Co-authored papers 11
Eden Haverfield
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Co-authored papers 3
Blake R Wilde
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Co-authored papers 2
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Co-authored papers 2
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University of California los angeles
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Jonsson Comprehensive Cancer Center, University of California los angeles
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David Geffen School of Medicine at university of california los angeles
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Jonathan P Bradfield
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Shantao Li
Yale University
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Peter J Hulick
Neaman Center for Personalized Medicine, NorthShore University HealthSystem
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Vicente Gilsanz
Center for Endocrinology, Children's Hospital Los Angeles
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Heidi J Kalkwarf
Cincinnati Children's Hospital Medical Center Cincinnati
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Matthew S Lebo
Harvard Medical School, Brigham and Women's Hospital
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Dharambir K Sanghera
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Carl D Langefeld
Wake Forest University School of Medicine
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Bryan Kestenbaum
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Release 1.2