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Author Details

Kathleen A Leppig
Kaiser Permanente Washington
1987
99
35
PMIDPaper TitleJournal TitlePublished Year
37962958Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.J Clin Invest2024
34813048Using Protection Motivation Theory to Predict Intentions for Breast Cancer Risk Management: Intervention Mechanisms from a Randomized Controlled Trial.J Cancer Educ2023
37808736Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition.bioRxiv2023
37560121Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A.Neurol Genet2023
37883979Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing.Am J Hum Genet2023
37194416Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.Ann Clin Transl Neurol2023
36798371Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A.bioRxiv2023
36824881Genetic Predictors of Blood Pressure Traits are Associated with Preeclampsia.medRxiv2023
34321323O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.J Med Genet2022
35446370Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases.JAMA Oncol2022
35945632Feasibility, acceptability, and limited efficacy of health system-led familial risk notification: protocol for a mixed-methods evaluation.Pilot Feasibility Stud2022
35216901The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network.Genet Med2022
35309003Implementation matters: How patient experiences differ when genetic counseling accompanies the return of genetic variants of uncertain significance.AMIA Annu Symp Proc2022
35245469The annual ASHG dinner.Am J Hum Genet2022
34906510Reanalysis of eMERGE phase III sequence variants in 10,500 participants and infrastructure to support the automated return of knowledge updates.Genet Med2022
34930020Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study.Circulation2022
35341654Impact of returning unsolicited genomic results to nongenetic health care providers in the eMERGE III Network.Genet Med2022
34665896Do research participants share genomic screening results with family members?J Genet Couns2022
32579152Relationship between genetic knowledge and familial communication of CRC risk and intent to communicate CRCP genetic information: insights from FamilyTalk eMERGE III.Transl Behav Med2021
36046768Returning negative results from large-scale genomic screening: Experiences from the eMERGE III network.Am J Med Genet A2021
33603197Preferences of biobank participants for receiving actionable genomic test results: results of a recontacting study.Genet Med2021
33597769DLG4-related synaptopathy: a new rare brain disorder.Genet Med2021
33591484The FamilyTalk randomized controlled trial: patient-reported outcomes in clinical genetic sequencing for colorectal cancer.Cancer Causes Control2021
33554037Effect of Personalized Breast Cancer Risk Tool on Chemoprevention and Breast Imaging: ENGAGED-2 Trial.JNCI Cancer Spectr2021
34377931Penetrance of Breast Cancer Susceptibility Genes From the eMERGE III Network.JNCI Cancer Spectr2021
34582721Effect of a Randomized Trial of a Web-Based Intervention on Patient-Provider Communication About Breast Density.J Womens Health (Larchmt)2021
34208188Feasibility and Assessment of a Cascade Traceback Screening Program (FACTS): Protocol for a Multisite Study to Implement and Assess an Ovarian Cancer Traceback Cascade Testing Program.J Pers Med2021
34200550Patient and Family Preferences on Health System-Led Direct Contact for Cascade Screening.J Pers Med2021
33951936Practice Patterns After Return of Rare Variants Associated With Cardiomyopathy in the Electronic Medical Records and Genomics Network.Circ Heart Fail2021
34049328Genetic Heterogeneity and Core Clinical Features of NOG-Related-Symphalangism Spectrum Disorder.Otol Neurotol2021
33455827What improves the likelihood of people receiving genetic test results communicating to their families about genetic risk?Patient Educ Couns2021
30737640Development of FamilyTalk: an Intervention to Support Communication and Educate Families About Colorectal Cancer Risk.J Cancer Educ2020
33482952Characteristics Associated with Participation in ENGAGED 2 - A Web-based Breast Cancer Risk Communication and Decision Support Trial.Perm J2020
32669677Participant choices for return of genomic results in the eMERGE Network.Genet Med2020
32555418Ethical conflicts in translational genetic research: lessons learned from the eMERGE-III experience.Genet Med2020
32413979Understanding the Return of Genomic Sequencing Results Process: Content Review of Participant Summary Letters in the eMERGE Research Network.J Pers Med2020
32349224Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network.J Pers Med2020
30639323Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.Am J Hum Genet2019
31474318Redefining the Etiologic Landscape of Cerebellar Malformations.Am J Hum Genet2019
31422818Rates of Actionable Genetic Findings in Individuals with Colorectal Cancer or Polyps Ascertained from a Community Medical Setting.Am J Hum Genet2019
30774981A phenome-wide association study to discover pleiotropic effects of <i>PCSK9</i>, <i>APOB</i>, and <i>LDLR</i>.NPJ Genom Med2019
30753636Trends in BRCA Test Utilization in an Integrated Health System, 2005-2015.J Natl Cancer Inst2019
30843145"It would be so much easier": health system-led genetic risk notification-feasibility and acceptability of cascade screening in an integrated system.J Community Genet2019
28699126A Report on Ten Asia Pacific Countries on Current Status and Future Directions of the Genetic Counseling Profession: The Establishment of the Professional Society of Genetic Counselors in Asia.J Genet Couns2018
30011878Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs.Healthcare (Basel)2018
29469822Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.Genet Med2018
29663715Collaborations in medical genetics: 10-Year history of an ongoing Vietnamese-North American Collaboration.Mol Genet Genomic Med2018
29301385Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience.J Pers Med2018
27841880The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.Nat Genet2017
28257920A web-based personalized risk communication and decision-making tool for women with dense breasts: Design and methods of a randomized controlled trial within an integrated health care system.Contemp Clin Trials2017
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Collaborators

University of Washington Medical Center
Co-authored papers 33
University of Washington
Co-authored papers 18
University of Washington.
Co-authored papers 16
Mayo Clinic
Co-authored papers 13
University of Washington Medical Center
Co-authored papers 13
Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University
Co-authored papers 12
Boston Children's Hospital, Harvard Medical School
Co-authored papers 12
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Co-authored papers 11
Center for Applied Genomics, Children's Hospital of Philadelphia
Co-authored papers 11
Harvard Medical School
Co-authored papers 11
Northwestern University, Center for Genetic Medicine
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University of Washington Medical Center
Co-authored papers 10
Kaiser Permanente Washington Health Research Institute
Co-authored papers 10
Kaiser Permanente of Washington
Co-authored papers 10
Genomic Medicine Institute
Co-authored papers 10
Cincinnati Children's Hospital Medical Center
Co-authored papers 10
Cincinnati Children's Hospital Medical Center
Co-authored papers 9
University of Washington School of Medicine
Co-authored papers 9
Northwestern University Feinberg School of Medicine.
Co-authored papers 9
Vagelos College of Physicians and Surgeons, Columbia University
Co-authored papers 9
Vanderbilt Genetics Institute, Vanderbilt University Medical Center
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The Center for Applied Genomics, Children's Hospital of Philadelphia
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Biomedical Ethics, Mayo Clinic and Foundation
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Center for Precision Medicine and Genomics, Columbia University Irving Medical Center
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Northwestern University, Center for Genetic Medicine
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University of Washington
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University of Washington Medical Center
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Vanderbilt University Medical Center
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Harvard Medical School, Vanderbilt University, Yale University Yale Law School
Co-authored papers 6
Kaiser Permanente Washington Health Research Institute, Kaiser Permanente Washington
Co-authored papers 6