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Author Details

Kristy Lee
The University of North Carolina at Chapel Hill
2009
54
23
PMIDPaper TitleJournal TitlePublished Year
36600593Optimising clinical care through <i>CDH1</i>-specific germline variant curation: improvement of clinical assertions and updated curation guidelines.J Med Genet2023
37347242ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG).Genet Med2023
34906521Response to McGurk et al.Genet Med2022
35412596Case report and review of the literature: immune dysregulation in a large familial cohort due to a novel pathogenic RELA variant.Rheumatology (Oxford)2022
35802134ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG).Genet Med2022
35341655ClinGen's Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescents.Genet Med2022
35534222De novo missense mutation in GRIA2 in a patient with global developmental delay, autism spectrum disorder, and epileptic encephalopathy.Cold Spring Harb Mol Case Stud2022
35363504Establishing the Medical Actionability of Genomic Variants.Annu Rev Genomics Hum Genet2022
35149534Expanding the clinical phenotype of <i>FGFR1</i> internal tandem duplication.Cold Spring Harb Mol Case Stud2022
35091508Biallelic <i>SEPSECS</i> variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease.Cold Spring Harb Mol Case Stud2022
33300245Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.Hum Mutat2021
33715910Next-generation sequencing for inborn errors of immunity.Hum Immunol2021
33496739Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel.Blood Adv2021
34863095Discovery of clinically relevant fusions in pediatric cancer.BMC Genomics2021
34716204Somatic variation as an incidental finding in the pediatric next-generation sequencing era.Cold Spring Harb Mol Case Stud2021
33966955Burden or benefit? Effects of providing education about and the option to request additional genomic findings from diagnostic exome sequencing: A randomized controlled trial.Patient Educ Couns2021
34345026Correction to: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG).Genet Med2021
34012069Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG).Genet Med2021
34012068ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG).Genet Med2021
32371413Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.Cold Spring Harb Mol Case Stud2020
32853555Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project.Am J Hum Genet2020
32139434Glanzmann thrombasthenia: genetic basis and clinical correlates.Haematologica2020
30504931Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels.Genet Med2019
30237575Factors influencing NCGENES research participants' requests for non-medically actionable secondary findings.Genet Med2019
30181607Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future.Genet Med2019
31028355Expert and lay perspectives on burden, risk, tolerability, and acceptability of clinical interventions for genetic disorders.Genet Med2019
30523343Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework.Genet Med2019
29261173The who, what, and why of research participants' intentions to request a broad range of secondary findings in a diagnostic genomic sequencing study.Genet Med2018
30156302Monosomy X rescue explains discordant NIPT results and leads to uniparental isodisomy.Prenat Diagn2018
30311389ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.Hum Mutat2018
30311382Evidence-based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group.Hum Mutat2018
30311375Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.Hum Mutat2018
30311369Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes.Hum Mutat2018
29732646DDAVP trial in discrepant non-severe haemophilia A patients.Haemophilia2018
32913980Implementation and Clinical Utility of an Integrated Academic-Community Regional Molecular Tumor Board.JCO Precis Oncol2017
27124788A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation.Genet Med2016
26270767A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing.Genet Med2016
25470420Characterization of an apparently synonymous F5 mutation causing aberrant splicing and factor V deficiency.Haemophilia2015
26447779Potential Mechanisms for Cancer Resistance in Elephants and Comparative Cellular Response to DNA Damage in Humans.JAMA2015
25910913High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting.Am J Ophthalmol2015
25637381Actionable exomic incidental findings in 6503 participants: challenges of variant classification.Genome Res2015
25790163Navigating the current landscape of clinical genetic testing for inherited retinal dystrophies.Genet Med2015
25762628TP53 intron 1 hotspot rearrangements are specific to sporadic osteosarcoma and can cause Li-Fraumeni syndrome.Oncotarget2015
24151055A genetic counselor's guide to using next-generation sequencing in clinical practice.J Genet Couns2014
25109983Mitochondria and redox homoeostasis as chemotherapeutic targets.Biochem Soc Trans2014
24788952The copper chelator ATN-224 induces caspase-independent cell death in diffuse large B cell lymphoma.Int J Oncol2014
24633940Genetic polymorphisms in oxidative stress-related genes are associated with outcomes following treatment for aggressive B-cell non-Hodgkin lymphoma.Am J Hematol2014
24702722Rituximab as first-line treatment for the management of adult patients with non-severe hemophilia A and inhibitors.J Thromb Haemost2014
22995991An informatics approach to analyzing the incidentalome.Genet Med2013
24316776The NCGENES project: exploring the new world of genome sequencing.N C Med J2013
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Collaborators

Jonathan S Berg
University of North Carolina
Co-authored papers 12
James P Evans
University of North Carolina
Co-authored papers 10
Christa Lese Martin
Autism and Developmental Medicine Institute
Co-authored papers 8
Sharon E Plon
Baylor College of Medicine
Co-authored papers 8
Adam S Gordon
Northwestern University Feinberg School of Medicine.
Co-authored papers 6
Richard K Wilson
The Ohio State University
Co-authored papers 6
Laura M Amendola
Illumina Inc.
Co-authored papers 6
Carolyn Sue Richards
Oregon Health & Science University (OHSU)
Co-authored papers 6
David T Miller
Boston Children's Hospital
Co-authored papers 6
Erin M Ramos
National Human Genome Research Institute
Co-authored papers 5
Katrina A B Goddard
Center for Health Research, Kaiser Permanente Northwest
Co-authored papers 5
Daniel C Koboldt
Institute for Genomic Medicine, Nationwide Children's Hospital
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Douglas R Stewart
Clinical Genetics Branch, National Cancer Institute
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Jessica Ezzell Hunter
Kaiser Permanente Center for Health Research
Co-authored papers 5
Liying Zhang
The Fifth Affiliated Hospital, Sun Yat-sen University
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Marc S Williams
University of Washington Medical Center
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Adam H Buchanan
Genomic Medicine Institute, Geisinger Medical Center
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Elaine R Mardis
The Ohio State University
Co-authored papers 4
Christine Rini
Northwestern University
Co-authored papers 4
Vincent Magrini
The Ohio State University
Co-authored papers 4
Wendy K Chung
Boston Children's Hospital, Harvard Medical School
Co-authored papers 4
Catherine E Cottrell
Nationwide Children's Hospital
Co-authored papers 4
Teri E Klein
Stanford University
Co-authored papers 4
Chimene Kesserwan
National Institutes of Health
Co-authored papers 3
Natasha T Strande
USA Autism and Developmental Medicine Institute
Co-authored papers 3
Kirk C Wilhelmsen
West Virginia University
Co-authored papers 3
Leslie G Biesecker
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 3
Amanda B Spurdle
QIMR Berghofer Medical Research Institute
Co-authored papers 3
Peter White
The Ohio State University
Co-authored papers 3
Gail E Henderson
University of North Carolina-Chapel Hill
Co-authored papers 3
Release 1.2