Title Authors Location Year Type
Making sense of missense: a pathway-based approach to functional assays for improved clinical variant interpretation Brnich SE, Brandt, A, Berg JS

ACMG Annual Clinical Genetics Meeting

2019 Platform Presentation
An In Silico Assessment of Functional Assay Impact on Clinical Variant Interpretation S.E. Brnich, E.A. Rivera-Munoz, J.S.Berg UNC MC-PhD Annual Retreat 2018 Poster
Evaluation of Targeted Sequencing Technology to Screen 17 Genes for Actionable Conditions in Healthy Individuals Alicia Brandt, Edgar A. Rivera-Munoz, Lonna Mollison, Chelsea Gustafson, Daniela DeCristo, Falecia Metcalf, James Evans, Gail Henderson, Jonathan S. Berg ACMG 2018 Poster
Development of a Targeted Second-Tier Genetic Test for Conditions Examined during Newborn Screening Lonna Mollison, Chelsea Gustafson, Edgar A. Rivera-Munoz, Alicia Brandt, Daniela DeCristo, Falecia Metcalf, Cynthia Powell, Jonathan Berg ACMG 2018 Poster
Restricted repertoire of ACMG variant interpretation criteria apply in screening Daniela M. DeCristo, Edgar A. Rivera-Munoz, Monica Zeynalzadeh, Jonathan Berg ACMG 2018 Poster
Dilemmas in defining pediatric actionability: preserving an open future when the genome is an open book 1Kathleen Wallace, 1Stephanie Crowley, 1Daniela DeCristo, 1Ann Katherine Foreman, 1Laura Milko, 1Lonna Mollison, 1Julianne O’Daniel, 1Bradford Powell, 1,2Cynthia Powell, 1Jonathan Berg ACMG 2018 Poster
Generation of Pathogenic and Benign BRCA2 Variants by Site-Directed Mutagenesis Ellington MG, Brnich S, Berg JS. UNC BIOL395 Research Symposium 2018 Poster
Theoretical and practical considerations for validation of functional assays in clinical variant interpretation applications. Brnich SE, Sekelsky JJ, Berg JS. American Society of Human Genetics (ASHG) 2018 Annual Meeting 2018 Poster
A Pathogenicity Calculator Assessment of Functional Assay Impact on Clinical Variant Interpretation. S.E. Brnich, E.A. Rivera-Munoz, J.S.Berg ACMG Annual Clinical Genetics Meeting 2018 Poster
Clinical interventions to delay or prevent outcomes related to inherited conditions: Does expert opinions on the nature of intervention reflect the opinions of the general population? Goddard K, Paquin R, Mittendorf K, Lewis M, Zulkiewicz B, Leo M, Nyongesa D, Hunter J, Lee K, Williams M, Berg Curating the Clinical Genome 2018 Conference 2018 Presentation
ClinGen’s Pediatric Actionability Working Group Hunter JE, Webber EM, Mittendorf K, Lee K, Williams MS, Powell BC, Goddard KAB Curating the Clinical Genome 2018 Conference 2018 Poster Presentation
Somatic Variant Data Integration in ACMG Classification of Germline Variants in Hereditary Cancers Ritter DI, Kesserwan C, Sonkin D, Chakravarity D, Chao E, Ghosh R, Lee K, Kulkarni S, Zhang L, Offit K, Plon SE, Walsh MF Curating the Clinical Genome 2018 Conference 2018 Poster presentation
Clinical Validity Assessment of Genes Frequently Tested on Hereditary Breast and Ovarian Cancer Susceptibility Sequencing Panels Lee K, Seifert BA, Shimelis H, Ghosh R, Carter NJ, Crowley SB, Doonanco K, Foreman AK, Ritter DI, Trapp M, Berg JS, Plon SE, Couch FJ ACMG 2018 Poster Presentation
Somatic Variant Data Integration in ACMG Classification of Germline Variants in Hereditary Cancers Ritter DI, Kesserwan C, Sonkin D, Chakravarity D, Chao E, Ghosh R, Lee K, Kulkarni S, Zhang L, Offit K, Plon SE, Walsh MF ACMG 2018 Poster Presentation
Clinician versus general population perceptions of the nature of clinical interventions for delaying or preventing outcomes related to inherited conditions Mittendorf KF, Paquin RS, Lewis M, Zulkiewicz B, Hunter JE, Lee K, Berg JS, Williams MC, Goddard KAB ACMG 2018 Poster Presentation
Going beyond the ACMG recommendations for reporting secondary findings: from decision-making to follow-up Strande, NT, Booker J, Foreman AK, Haskell GT, Lee K, O’Daniel JM, Powell BC, Roche M, Seifert BA, Evans JP, Weck KE, Berg JS ASHG 2017 Poster Presentation
Factor 8 assay discrepancy in a United States non-severe hemophilia A cohort Okoye HC, Nielsen BI, Lee K, Key NS, Rollins-Raval MA International Society on Thrombosis and Haemostasis 2017 Poster Presentation
Validity Assessment of Genes Commonly Found on Clinically Available Hereditary Breast and Ovarian Cancer Susceptibility Sequencing Panels Lee K, Seifert B, Shimelis H, Ghosh R, Carter NJ, Crowley S, Doonanco K, Berg JS, Plon SE, Couch FJ Curating the Clinical Genome Conference 2017 Poster Presentation
Developing optimized ACMG-AMP criteria for classification of germline variants in TP53 Pesaran T, Achatz MI, Attardi L, Bassett R, Bissonnette J, Evans G, Feng B, Fortuno C, Frone M, Goldgar D, Huether R, James P, Jimenez S, Kesserwan C, Lee K, Li S, Mai P, McGoldrick K, Mester J, Olivier M, Plon S, Slavin T, Spurdle A, Zhang L, Savage S Curating the Clinical Genome Conference 2017 Poster Presentation
Assessing the Clinical Validity of Genes Implicated in Hereditary Colorectal Cancer and Polyposis Using the ClinGen Framework. Seifert BA, Jackson S, McGlaughon J, Ritter D, Roberson A, Roberts M, Schmidt RJ, Thompson B, Jimenez S, Lee K, Plon SE, Offit K, Berg JS, Greenblatt MS, Stadler ZK, Zhang L, Ferber MJ. Curating the Clinical Genome Conference 2017 Poster Presentation
Optimization of the ACMG-AMP

Criteria for CDH1 Variant Classification.

Karam R, Schrader I, Lee K, Oliveira C, Roberts M, Nykamp K, Pesaran T, Ghosh R, Figueiredo J, Kobayashi Y, Kaurah P, Krempely K, Slavin TP, Zhang L, Chao E, Spurdle A, Tavtigian S, Carneiro F, Huntsman D, Plon SE Curating the Clinical Genome Conference 2017 Poster Presentation
Beyond the ACMG 59: Identification of Clinically Actionability Secondary Findings by the ClinGen Actionability Working Group Webber EM, Hunter JE, Lee K, Muessig KR, Biesecker LG, Buchanan AH, Lindor N, Martin CL, O’Daniel JM, Ramos EM, Slavotinek A, Sobreira N, Weaver M, Williams MS, Evans JP, Goddard KA Curating the Clinical Genome Conference 2017 Poster Presentation
The who, what and why of research participants’ intentions to request a broad range of secondary findings in a clinical diagnostic genomic sequencing study. Rini C, Khan C, Moore E, Roche M, Evans, JP, Berg JS, Powell BC, Foreman AKM, Griesemer I, Lee K, O’Daniel J, Henderson G The 4th ELSI Congress 2017 Poster Presentation
. Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): Lessons Learned and Plans for the Future. Milko LV, Funke BH, Hershberger R, Lee K, Rivera-Munoz EA, Weaver MA, Niehaus A, Azzariti DR, Riggs E, Craigen W, Mao R, Offit K, Steiner RD, Martin CL, Rehm HL, Watson MS, Ramos E, Plon SE, Berg J ACMG 2017 Poster Presentation
Assessing the Clinical Validity of Genes Implicated in Hereditary Colorectal Cancer and Polyposis Using the ClinGen Framework Seifert B, Jackson S, McGlaughon J, Ritter D, Roberts M, Schmidt RJ, Jimenez S, Lee K, Plon SE, Offit K, Berg JS, Stadler ZK, Zhang L, Ferber M ACMG 2017 Poster Presentation
Clarity in the face of uncertainty: a nuanced classification of uncertain exome cases Strande N, Booker J, Foreman AKM, Haskell G, Lee K, O’Daniel J, Powell B, Seifert B, Evans JP, Berg JS, Weck KE ACMG 2017 Poster Presentation
Integrating Somatic Variant Data to Aid in Classification of Germline Variants in Hereditary Cancer Genes using the ACMG/AMP Guidelines Walsh MF, Ritter D, Ghosh R, Kesserwan C, Hedges D, Chao E, Chakravarity D, Kulkarni S, Drazer M, Jimenez S, Kemel Y, Lee K, Zhang L, Plon SE ACMG 2017 Poster Presentation
Secondary and Incidental Findings from WES/WGS Hunter JE, Webber EM, Lee K, Muessig KR, Biesecker LG, Buchanan AH, Lindor N, Martin CL, O’Daniel JM, Ramos EM, Slovotinek A, Sobreira N, Weaver MA, Williams MS, Evans JP, Goddard KAB ASHG 2017 Presentation
Examining the role of functional assays in clinical variant interpretation. Brnich SE, Berg JS. UNC MSTP Monday Night Seminar Series 2017 Oral Presentation
Defining the pediatric actionability of genetic conditions for utility in newborn screening Kathleen Wallace, Stephanie Crowley, Daniela DeCristo, Kate Foreman, Laura Milko, Lonna Mollison, Julianne O’Daniel, Bradford Powell, Cynthia Powell, Jonathan Berg. CCG 2017 Poster
High-throughput functional characterization of variants in DNA repair genes in cancer Sarah Brnich, Stephanie Bellendir, Bryce Seifert, Alicia Brandt, Andy Rivera, Jonathan Berg 4th Annual Advocated For Women in Science and Medicine Symposium 2017 Poster
Stop, go, slow: pathogenic, nonpathogenic, still don’t know (A traffic light reporter assay for clinical interpretation of variants) Sarah Brnich, Stephanie Bellendir Crowley, Bryce Seifert, Alicia Brandt, Andy Rivera, Jonathan Berg UNC Department of Genetics Annual Retreat 2017 Poster
Paving the Way to Evidence-based Medical Genomics Kristy Lee UNC Department of Genetics Annual Retreat 2017 Presentation
Genome-scale Sequencing in Families and Individuals with Gastrointestinal Polyposis to Identify Potentially Pathogenic Variants in Candidate Polyposis Genes Seifert BA, Lee K, Milko L, Evans JP, Berg JS AMP 2016 Poster Presentation
Beware of spurious findings: Challenges with variant interpretation in retinal conditions exhibiting extreme genetic heterogeneity Lee K, Adams MC, Berg JS Curating the Clinical Genome Conference 2016 Poster Presentation
Systematic assessment of variant classification for gene on hereditary cancer panels. Rivera-Munoz EA, Lee K, Ghosh R, Offit K, Plon SE ACMG 2016 Poster Presentation
The road not taken: Exome “Results” that were not returned. Strande NT, Haskell G, Booker JK, Foreman AKM, Lee K, O’Daniel JM, Powell BC, Seifert BA, Weck KE, Evans JP, Berg JS ACMG 2016 Poster Presentation
A Tell Tale Gene: Defining the Clinical Validity of Genes Associated with Hypertrophic Cardiomyopathy Kathleen Wallace, Colleen Caleshu, Edward W. Corty, Stephanie Crowley, Kristen Dougherty, Jodie Ingle Ingles, Laura Milko, Ana Morales, Bryce A. Seifert, Jan D.H. Jongbloed, CHris Semsarian, Natasha T. Strande, Peter van Tintelen, Ray Hershberger, James Ware, Birgit Funke, Jonathan Berg on behalf of the ClinGen Cardiovascular Clinical Domain WG UNC Genetics Department Retreat 2016 Poster
Listening to the genetic data: a comparative analysis of diagnostic and newborn screening panels for hearing loss DeCristo D, Crowley S, Wallace K, Girnary Z, Aylsworth AS, Booker J, Boshe L, Couser N, Foreman K, Frazier D, Gucsavas-Calikoglu M, Milko L, O’Daniel J, Powell B, Roche M, Strande N, VOra N, Powell C, Berg J 2016 Poster
Systematic Assessment of Variant Classification for Genes on hereditary cancer panels Edgar A. Rivera-Munoz, Kristy Lee, Rajarshi Ghosh, Kenneth Offit, Sharon E. Plon ACMG 2016 Poster
High-throughput functional characterization of variants in DNA repair genes in cancer Stephanie Bellendir, Natasha Strande, Bryce Seifert, Sarah Brnich, Jonathan Berg UNC Department of Genetics Annual Retreat 2016 Poster
Evolution of newborn screening: Molecular Inversion Probes Targeting Recommended Uniform Screening Panel Genes Alicia Brandt, Chelsea Gustafson, Ruhi Rai, Kirk Wilhelmsen, Jonathan Berg WinS (Women in Science Symposium) 2016 Poster
Traditional diagnostic testing vs. Whole Exome Sequencing in evaluation of Neuromuscular Disorders Michael Adams, Krunal Amin, Gloria Haskell, Zheng Fan, Jonathan S. Berg ACMG 2016
The Road Not Taken: Exome “Results” That Were Not Returned Strande NT, Haskell GT, Booker JK, et al. ACMG 2016 Poster
Assessing the Clinical Validity of Genes Implicated in Hereditary Breast and Ovarian Cancer Susceptibility Using the ClinGen Framework Seifert BA, Lee K, Shimelis H, Ghosh R, et al. ACMG 2016 Presentation
Systematic Assessment of Variant Classification for Genes on Hereditary Cancer Panels Rivera Munoz EA, Lee K, Ghosh R, Offit K, Plon S. ACMG 2016 Poster
Weight and see: A systematic overview of category rankings within the semi-quantitative metric of the NCNEXUS project Girnary Z, Milko L, Strande N, et al ACMG 2016 Poster
ClinGen and ClinVar: Essentials for your Variant Interpretation Toolbox Kristy Lee NCMGA 2016 Presentation
Understanding the Genetics of Bleeding Disorders & Family Implications Kristy Lee Annual Hemophilia of North Carolina 2016 Presentation
Sorting Through Variants Related to Phenotypes Associated with Extreme Genetic Heterogeneity Kristy Lee ACMG 2016 Presentation
Systematic assessment of clinical actionability of genetic disorders associated with genomic variation by the ClinGen Actionability Working Group: the ACMG 56 and beyond Hunter JE, Biesecker LG, Bigler K, Buchanan A, Irving SA, Jensen B, Lee K, Martin CL, Milko L, Niehaus AD, O’Daniel JM, Piper MA, Ramos EM, Schully SD, Slavotinek A, Sobreira N, Strande NT, Weaver M, Webber EM, Williams MS, Berg JS, Evans JP, Goddard KA Curating the Clinical Genome Conference 2016 Presentation
Assessing the clinical validity of gene implicated in hereditary breast and ovarian cancer susceptibility using the ClinGen framework Seifert BA, Lee K, Shimelis H, Ghosh R, Lauer E, Strande NT, Ceyhan-Birsoy Q, Berg JS, Plon SE, Couch FJ ACMG 2016 Presentation
ClinGen Actionability Working Group: Clinical Actionability in the context of Secondary Findings in Adults and Application to the ACMG 56. Hunter JE, Biesecker LG, Bigler K, Buchanan A, Irving SA, Lee K, Martin CL, Milko L, Niehaus AD, Nussbaum R, O’Daniel JM, Piper MA, Ramos EM, Schully SD, Scott AF, Slavotinek A, Sobreira N, Strande NT, Weaver M, Webber EM, Williams MS, Berg JS, Evans JP, Goddard KA ASHG 2015 Poster Presentation
Opening the floodgates to get a sip of water: Challenges of whole exome sequencing analysis as a diagnostic tool. Strande NT, Bizon C, Booker JK, Brandt A, Foreman AKM, King I, Lee K, Milko L, O’Daniel JM, Owen P, Powell BC, Seifert BA, Wilhelmsen KC, Berg JS, Weck KE Association for Molecular Pathology Annual Meeting 2015 Poster Presentation
Secondary findings from genomic sequencing: What NCGENES participant say they want, what they request, and how they respond. Roche MI, Raspberry K, Skinner D, Guargia S, Foreman AK, Lee K, O’Daniel J, Powell BC, Berg JS, Evans, JP, Henderson G ACMG 2015 Poster Presentation
Research Sweep of Simplex breast cancer reveals TRP channel variants Sarah Brnich, Gloria T. Haskell, Daniel Marchuk, Jonathan Berg John B. Graham Medical Student Research Day 2015 Poster
Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings Seifert BA, O’Daniel JM, Amin K, et al. UNC Genetics Retreat 2015 Poster
A Categorical Framework to Aid Parental Decision-Making for Next-Generation, Newborn Sequencing Results Girnary Z, Milko LV, Brandt A, et al UNC Genetics Retreat 2015 Poster
Challenges of Whole Exome Sequencing Analysis as a Diagnostic Tool Strande NT, Bizon C, Booker JK, et al. AMP 2015 Poster
Genomic Screening of the General Population Adams M, Evans JP, Henderson G, et al. ACMG 2015 Poster
Long QT Genes- Which came first, Validity or Clinical Testing? Boshe L, Strande N, Berg JS, and O’Daniel J ACMG 2015 Poster
Clinical Evaluation of Germline Sequencing for Hereditary Cancer Risk Assesment Amin K, Seifert B, and Berg JS BIOL395 (Undergraduate Course) 2015 Poster
Genetic Testing for Retinal Conditions Kristy Lee Raleigh-Durham Chapter of Foundation Fighting Blindness 2015 Presentation
Challenges in Interpretation & Explanation of Exome Sequencing Kristy Lee Southeastern Regional Genetics Group 2015 Presentation
University of North Carolina at Chapel Hill Exome Case Conference Kristy Lee ACMG Case Conference Webinar Series 2015 Presentation
Clinical actionability of incidental findings: application of a semiquantitative metric to assess actionability in over 1200 genes Foreman AKM, Booker J, Boshe L, Crooks K, Evans JP, Jensen BC, Lee K, Nelson DK, O’Daniel J, Powell BC, Roche M, Skrzynia C, Strande T, Weck KE, Wilhelmsen KC, Berg JS ASHG 2014 Poster Presentation
Analysis of Whole Exome Datasets to Test the Hypothesis of Digenic Inheritance in Stargardt Disease Lee K, Marchuk D, Friez MJ, Bizon C, Owen P, Weck KE, Garg S, Evans JP, Berg JS. ASHG 2014 Poster Presentation
Investigating Whole Exome Sequencing as a Diagnostic Test for Hereditary Retinal Disorders Lee K, Crooks K, Milko L, Lu M, Owen P, Weck KE, Evans JP, Berg JS, Garg S ACMG 2014 Poster Presentation
Identifying Genetic Determinants of Mitral Valve Prolapse Haskell GT, Marchuk D, Skrzynia C, et al. ACMG 2014 Poster
Clinical Actionability of Incidental Findings: Application of a semiquantitative metric to assess actionability in over 1200 genes Foreman AKM, Booker JK, Boshe L, et al. ASHG 2014 Poster
Exploring the diagnostic yield of whole exome sequencing in a broad range of genetic conditions: The first 300 cases in the NCGENES study Strande N ASHG 2014 Presentation
The ClinGen framework for defining the clinical validity of monogenic disease associations for use in research and clinical analyses Berg JS, Birsoy O, Butte AJ, et al. ASHG 2014 Poster
Diagnostic and Research Utility of Whole Exome Sequencing for Cardiac Disease Haskell GT, Jensen BC, Skrzynia C, et al. ASHG 2014 Poster
Application of Whole Exome Datasets to Test the Hypothesis of Digenic Inheritance in Stargardt Disease Lee K, Marchuk D, Friez MJ, et al. ASHG 2014 Poster
Exploring the diagnostic yield of whole exome sequencing in a broad range of genetic conditions: the first 200 cases in the NCGENES study Strande N, Bizon C, Booker J, Crooks K, Foreman AKM, Haskell G, Hayden M, Lee K, Lu M, Milko L, O’Daniel J, Owen P, Powell B, Skrzynia C, Tilley C, Treece A, Young D, Wilhelmsen K, Weck KE, Berg JS, Evans JP ASHG 2014 Presentation
Unanticipated results in whole exome study: we’ve still a lot to learn. Skrzynia C, O’Daniel JM, Marchuck D, Lee K, Berg JS, Evans JP European Society of Human Genetics 2014 Presentation
Investigating Whole Exome Sequencing as a Diagnostic Test for Hereditary Retinal Disorders Lee K, Crooks K, Milko L, et al. ACMG 2013 Poster
Early Experiences with Genetic Counseling for Incidental Findings from Whole Exome Sequencing Lee K, Crooks K, Milko L, et al. NSGC 2013 Poster
An Informatics Pipeline for Identifying Clinically Relevant Incidental Variants in Whole Genome Sequences Berg JS, Adams M, Nassar N, et al. ACMG 2012 Poster
Whole Genome Analysis of High Risk Breast Cancer Families Lee K, Matthew J, Bloom R, et al. ACMG 2011 Poster
Whole Genomic Analysis of High Risk Cancer Families Lee K, Berg JS, Sullivan PF, Evans JP CGH 2009 Poster