{"id":2269,"date":"2015-04-23T15:45:00","date_gmt":"2015-04-23T19:45:00","guid":{"rendered":"https:\/\/med.sites.unc.edu\/genetics\/berglab\/posters-presentations\/"},"modified":"2025-08-13T13:13:34","modified_gmt":"2025-08-13T17:13:34","slug":"posters-presentations","status":"publish","type":"page","link":"https:\/\/www.med.unc.edu\/genetics\/berglab\/posters-presentations\/","title":{"rendered":"Posters & Presentations"},"content":{"rendered":"

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Title<\/strong><\/th>\nAuthors<\/strong><\/th>\nLocation<\/strong><\/th>\nYear<\/strong><\/th>\nType<\/strong><\/th>\n<\/tr>\n<\/thead>\n
Developing an Actionability Framework for Population Genomic Screening<\/span><\/td>\nKimberly Foss, MS, CGC, UNC-CH, Jessica Ezzell Hunter, PhD, Genomics, Ethics, and Translational Research Program, RTI International, Research Triangle Park, NC, Caitlin Allen, PhD, MPH, MUSC, Jonathan Berg, MD, PhD, UNC-CH, William Dotson, PhD, MS, CDC, Aaron Goldenberg, PhD, MA, MPH, Case Western, Yue Guan, ScM, PhD, CGC, Emory University, Christina Gutierrez-Ford, PhD, UNC-CH, Kandamurugu Manickam, MD, MPH, Nationwide Children\u2019s, Hadley Smith, PhD, MPSA, Harvard, Adam H. Buchanan, MS, MPH, CGC, Geisinger<\/span><\/td>\nACMG<\/td>\n2025<\/td>\nPoster<\/span><\/td>\n<\/tr>\n
Post-test genetic reporting: clinical genetics best practices<\/span>
\n<\/span><\/td>\n		Kristy Lee<\/span><\/td>\nISTH<\/span><\/td>\n2025<\/td>\nInvited Speaker<\/span><\/td>\n<\/tr>\n
Pseudodeficiency: A poorly defined and misunderstood term in an era of precision medicine<\/span>
\n<\/span><\/td>\n		Jennifer Goldstein, Amanda Balog, Deeksha Bali, Emily Brown Reeves, Didem Demirbas, Raquel Fernandez, Florencia Giliberto, Emily Groopman, Christina Hung, Melanie Lacaria, Matt Lebo, Rong Mao, Shruthi Mohan, Dawn Peck, Laura Pollard, Catherine Rehder, Jules Savatt, Ryan Schmidt, Pepper St. Clair, Filippo Pinto e Vairo, Amy White, Tim Wood, Lorne Clarke <\/span><\/td>\nWORLDSymposium<\/span><\/td>\n2025<\/td>\nPoster and rapid fire presentation<\/span><\/td>\n<\/tr>\n
Enhancing Genomic Data Accessibility with Hypothesis Parsing Tool for Variant Annotations<\/span>
\n<\/span><\/td>\n		Roshni Arun1, Justyne Ross1, Jonathan Berg1, Courtney Thaxton1<\/span><\/td>\nACMG<\/span><\/td>\n2025<\/td>\nPoster<\/span><\/td>\n<\/tr>\n
The ClinGen Lysosomal Diseases Variant Curation Expert Panel <\/span>
\n<\/span><\/td>\n		Jennifer Goldstein on behalf of the LD VCEP (IDUA subgroup)<\/span><\/td>\nMPS newborn screening meeting<\/span><\/td>\n2025<\/td>\nInvited Speaker<\/span><\/td>\n<\/tr>\n
Engaging and training the community to curate with ClinGen<\/span>
\n<\/span><\/td>\n		Thaxton C, on behalf of the ClinGen C3 WG<\/span><\/td>\nInternational Society of Biocuration<\/span><\/td>\n2025<\/span><\/td>\nInvited Speaker<\/span><\/td>\n<\/tr>\n
Crowd-sourced Annotation: A Curation Tool Engaging Future Medical Genomics Professionals<\/span>
\n<\/span><\/td>\n		Pepper St. Clair, Justyne Ross, Jennifer Goldstein, Shruthi Mohan, Lindsay Worley, Randy Cockerell, Amber Waddell, William Hankey, Jonathan Berg, Courtney Thaxton<\/span><\/td>\nACMG<\/span><\/td>\n2025<\/td>\nPlatform presentation <\/span><\/td>\n<\/tr>\n
Updating Gene-Disease Classifications and Inheritance Patterns for Porphyric Disease Entities to Improve Diagnostic Accuracy and Patient Management<\/span>
\n<\/span><\/td>\n		Pepper St. Clair, William Hankey, Jennifer Goldstein, Annette Feigenbaum, Christina Y. Hung, Elaine B. Spector, William J. Craigen<\/span><\/td>\nACMG<\/span><\/td>\n2025<\/td>\nPoster and rapid fire presentation <\/span><\/td>\n<\/tr>\n
Recommendations from the ClinGen Peroxisomal variant curation expert panel for variant classification in ABCD1<\/span>
\n<\/span><\/td>\n		Shruthi Mohan, Irene De Biase, Tatiana Yuzuk, Alexa Dickson, Tiziano Pramparo, Pepper St. Clair, Randy Cockerell, Rachel Logan, Raquel Fernandez, Emily Kyle, Ashley Ratzsch, Meredith Weaver, Sharon Suchy, Ann Moser, Rong Mao, Nancy Braverman<\/span><\/td>\nACMG<\/span><\/td>\n2025<\/td>\nPoster<\/span><\/td>\n<\/tr>\n
Curating Gene-Disease Classifications and Inheritance Patterns or Porphyric Disease Entities to Improve Diagnostic Accuracy and Patient Management<\/td>\nEmily E Brown Reeves, William Hankey, Pepper St Clair, Jennifer Goldstein, Annette Feigenbaum, Christina Y Hung, Elaine B Spector, William J Craigen<\/td>\nACMG<\/td>\n2025<\/td>\nPoster<\/td>\n<\/tr>\n
Developing an Actionability Framework for Population Genomic Screening<\/td>\nKimberly Foss, Caitlin Allen, Jonathan Berg, Aaron Goldenberg, Yue Guan, Christina Gutierrez-Ford, Kandamurugu Manickam, Hadley Smith, Jesica Ezzell Hunter, Adam H Buchanan<\/td>\nACMG<\/td>\n2025<\/td>\nPoster<\/td>\n<\/tr>\n
Enhancing Inclusivity in Public Health and Genetic Research Through Culturally and Linguistically-Tailored Genetics Education Materials<\/td>\nGrace Leon-Lozano, Sharisse Jimenez, Lennin Caro, Margaret Waltz, Marcella Boynton, MaryBeth Grewe, Laura Milko<\/td>\nACMG<\/td>\n2025<\/td>\nPoster<\/td>\n<\/tr>\n
Exploring the Impact of Genetic Knowledge on Parental Interest in Genetic Research Participation<\/td>\nLaura Milko, Grace Leon-Lozano, Jahnelle Jackson, Sharisse Jimenez, Lennin Caro, Jonathan S Berg, Grace Byfield, Ann Katherine M Foreman, Kimberly Foss, Stefanija Giric, Stephanie Land, Sabrina Powell, Margaret Waltz, \u00a0Marcella H Boynton<\/td>\nACMG<\/td>\n2025<\/td>\nPoster<\/td>\n<\/tr>\n
Crowd-sourced Annotation: A Curation Tool Engaging Future Medical Genomics Professionals<\/td>\nPepper St. Clair<\/td>\nACMG<\/td>\n2025<\/td>\nPlatform Presentation<\/td>\n<\/tr>\n
Undergraduate training: UNC Chapel Hill\u2019s EDGE Genomics Program<\/td>\nSabrina Powell, Grace Byfield, Jean Cadigan, Kelly Fraidenburg, Terry Furey, Rachel Phillips, Bradford Powell, Dawayne Whittington, Jonathan Berg, Folami Ideraabdullah<\/td>\nACMG<\/td>\n2025<\/td>\nPlatform Presentation<\/td>\n<\/tr>\n
Investigating the use of SpliceAI in Variant Reanalysis of a Cohort of Fetuses with Congenital Brain Abnormalities<\/a><\/td>\nBen McLean, Tam Sneddon, Scott Melville, Neeta Vora, Bradford Powell<\/td>\nACMG<\/td>\n2025<\/td>\nPoster<\/td>\n<\/tr>\n
Specifications of ACMG\/AMP Variant Curation Guidelines for the Analysis of FOXN1 Sequence Variants: Recommendations by ClinGen\u2019s Severe Combined Immunodeficiency Disease Variant Curation Expert Panel<\/span>
\n<\/span><\/td>\n		Justyne E. Ross1, Benjamin McLean1, Grace Leon-Lozano1, Vanessa Jacovas2,3, Michelle Zelnick2,3, Alice Y. Chan4, Nicolai S.C. van Oers5, Britt Johnson6 and, Ivan Kingyue Chinn2,3 on behalf of the Severe Combined Immunodeficiency Disease Variant Curation Expert Panel.<\/span><\/td>\nCCG<\/td>\n2024<\/td>\nPoster<\/td>\n<\/tr>\n
Insights from Annotating the Literature on Peroxisomal Biogenesis Disorders due to PEX1 Defects<\/span>
\n<\/span><\/td>\n		Pepper St. Clair1*, Shruthi Mohan1, Irene De Biase2, Annabelle L. Norman3, Sarina M. Regis3, Brielle J. Liske3, Irene Hernandez-Ocampo3, Danielle M. Yost3, Aminah B. Narkiewicz3, Citlally Lopex-De Leon3, Cassidy L. Webber3, Arielle Seepersad3, Simon Titen3, Tatiana Yuzyuk2, Alexa Dickson4, Tiziano Pramparo5, Meredith Weaver6, Emily Kyle6, Stephanie Francis2, Sharon Suchy7, Ann Moser8, Rong Mao2, and Nancy Braverman9<\/span><\/td>\nCCG<\/td>\n2024<\/td>\nPoster<\/td>\n<\/tr>\n
ClinGen Ocular Clinical Domain Working Group<\/span>
\n<\/span><\/td>\n		Kristy Lee<\/span><\/td>\nEuropean Reference Networks Eye Disease Conference
\n<\/span><\/td>\n		2024<\/td>\nInvited Speaker<\/td>\n<\/tr>\n
ClinGen, ClinVar, and Variant Classification: Highlighting\u00a0Needs and Benefits to Improve Early Clinical Management<\/span>
\n<\/span><\/td>\n		Jennifer Goldstein on behalf of the Lysosomal Diseases VCEP<\/span><\/td>\nNational MPS Society<\/span><\/td>\n2024<\/td>\nInvited Speaker<\/span><\/td>\n<\/tr>\n
The Clinical Genome Resource (ClinGen): An Overview<\/span><\/td>\nCourtney Thaxton<\/span><\/td>\nMutational Scanning Symposium Conference<\/span><\/td>\n2024<\/td>\nPlatform presentation<\/span><\/td>\n<\/tr>\n
Engaging and training the community to curate with ClinGen<\/span>
\n<\/span><\/td>\n		Courtney Thaxton<\/span><\/td>\nGO consortium meeting <\/span><\/td>\n2024<\/td>\nPlatform presentation<\/span><\/td>\n<\/tr>\n
Specifications of ACMG\/AMP Variant Curation Guidelines for VWF variants in type 2 von Willebrand disease: Recommendations by ClinGen\u2019s von Willebrand Disease Variant Curation Expert Panel<\/span><\/td>\nJustyne Ross1, William Hankey1, Kristy Lee1, Nina Borr\u00e0s2, Pamela Christopherson3, Irene Corrales2, Karl Desch4, Stefanie Dugan3, Jeroen Eikenboom5, Kenneth Friedman3, Blair Compton1, Margaret Fergusson1, Annabelle Frantz1, Isabella Futchi1, Mitchell Springer3, Daniel Hampshire6, Jill Johnsen7,8, and David Lillicrap9 on behalf of the von Willebrand Disease Variant Curation Expert Panel.<\/span><\/td>\nISTH<\/span><\/td>\n2024<\/td>\nOral Presentation<\/span><\/td>\n<\/tr>\n
The ClinGen framework for naming monogenic diseases<\/span><\/td>\nCourtney Thaxton1, Leslie G. Bieseceker2, Marina DiStefano3, Melissa Haendel4,
\nAda Hamosh5, Emma Owens1, Sharon E. Plon6,7, Heidi L. Rehm3,8, Jonathan S. Berg1<\/span><\/td>\n		ACMG<\/td>\n2024<\/td>\nPoster<\/td>\n<\/tr>\n
The ClinGen Lysosomal Diseases Variant Curation Expert Panel\u2019s Guidance on Classification of IDUA Variants for Mucopolysaccharidosis Type I<\/span><\/td>\nJennifer Goldstein on behalf of the LSD VCEP<\/span><\/td>\nACMG<\/td>\n2024<\/td>\nPlatform presentation<\/td>\n<\/tr>\n
Variant Scientists in Genomic Medicine<\/span><\/td>\nJennifer Goldstein<\/span><\/td>\nACMG<\/td>\n2024<\/td>\nScientific Concurrent Session<\/span><\/td>\n<\/tr>\n
Should ClinGen VCEPs switch to AlphaMissensefor in-silicomissense predictions?<\/span><\/td>\nShruthi Mohan, Justyne Ross and Jenny Goldstein<\/span><\/td>\nACMG<\/td>\n2024<\/td>\nPoster<\/td>\n<\/tr>\n
ClinGen Glucose-6-phosphate dehydrogenase (G6PD) Variant Curation Expert Panel: addressing the need for genetic variant classification in G6PD deficiency<\/span><\/td>\nShruthi Mohan1, Renee Geck2, Shawn Fayer2, Roseann S. Donnelly3, Mary Relling4, Tom Vulliamy5, Kelly Caudle4, Amber Waddell1, Essence Kendall1, Gonzalo Domingo6, Angelo Minucci7, BenediktLey8, Cindy Chu9, CyrineHaidar4, Howard McLeod10, Josef T. Prchal11, Mahmoud Sirdah12, VimlaAggarwal13, WeiyingJiang14, Emily Kyle15, Meredith Weaver15, Michelle Whirl-Carrillo16, Andrew Stergachis2<\/span><\/td>\nACMG<\/td>\n2024<\/td>\nPoster<\/td>\n<\/tr>\n
Recommendations from the ClinGen Peroxisomal variant curation expert panelfor variant classification in ABCD1<\/span><\/td>\nShruthi Mohan1, Irene De Biase2, Tatiana Yuzuk2, Alexa Dickson3, Tiziano Pramparo4, Meredith Weaver5, Raquel Fernandez5, Stephanie Francis2, Sharon Suchy6, Ann Moser7, Rong Mao2, Nancy Braverman<\/span><\/td>\nACMG<\/td>\n2024<\/td>\nPoster<\/td>\n<\/tr>\n
ClinGenHereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of the Validity of Hypertrophic Cardiomyopathy Genes<\/span><\/td>\nAmber Waddell,^1Sophie Hespe,^2BabkenAsatryan,3Emma Owens,1 Courtney Thaxton,1 Mhy -Lanie Adduru,4Kailyn Anderson,5Emily Brown,6 Lily Hoffman-Andrews,7Elizabeth Jordan,8Megan Mayers,1 Stacey Peters,9Fergus Stafford,2Richard Bagnall,10,11Lucas Bronicki,12,13Bert Callewaert,14,15C. Anwar A. Chahal,16Cynthia James,6Olga Jarinova,13,17Andrew P. Landstrom,18Elizabeth M. McNally,19Brittney Murray,6Laura Mui\u00f1o-Mosquera14,20Victoria Parikh,21 Chloe Reuter,21Roddy Walsh,22Bess Wayburn,23 James S. Ware,24Jodie Ingles<\/span><\/td>\nACMG<\/td>\n2024<\/td>\nPoster<\/td>\n<\/tr>\n
Enhancing Variant Curation Guidelines to Optimize Clinical Genetic Testing for ABCA4 Retinopathies Utilizing the ClinGen Framework<\/span>
\n<\/span><\/td>\n		Kristy Lee, Amber Waddell. Blair Compton, St\u00e9phanie S. Cornelis, Naomi Wagner, Amy Dameron, Claire-Marie Dhaenens, Madhu Pantrangi, Frans P.M. Cremers, Elfride De Baere, Robert B. Hufnagel, on behalf of the ClinGen ABCA4 Variant Curation Expert Panel<\/span><\/td>\nARVO<\/td>\n2024<\/td>\nPlatform presentation<\/span><\/td>\n<\/tr>\n
Implementation of a dyadic nomenclature for monogenic diseases<\/span>
\n<\/span><\/td>\n		Courtney Thaxton on behalf of the ClinGen Disease Naming Advisory Committee<\/span><\/td>\nCCG<\/td>\n2024<\/td>\nInvited Speaker<\/span><\/td>\n<\/tr>\n
Fantastic PCD Phenotypes and Where To Find Them:
\nA Comparison of Three PCD Genes and Their Phenotypes<\/span>
\n<\/span><\/td>\n		Justine Siew, Lindsay Worley, Courtney Thaxton
\n<\/span><\/td>\n		CCG<\/td>\n2024<\/td>\nPoster<\/span><\/td>\n<\/tr>\n
Genomic and Immunological Characterization of RAG-Deficient SCID: Implications for
\nPersonalized Therapeutic Approaches<\/span>
\n<\/span><\/td>\n		Hankey W, Mero M, Hussain HMJ, Lee K, Sullivan LS, Haer-Wigman L, Smith AR, Wang M, Faya N, Ayyagari R, Benson, MD, Cheetham ME, De Baere E, Chong V, Goetz K, Hufnagel, R, K\u00e4mpj\u00e4rvi K, Koenekoop R, Sallum, J, Wang G, Sieving, PA, Zeitz, C, Lewis, RA Chen, R, and Worley, KC, on behalf of the ClinGen X-linked Inherited Retinal Disease Variant Curation Expert Panel<\/span><\/td>\nCCG<\/td>\n2024<\/td>\nPoster<\/span><\/td>\n<\/tr>\n
Long-read sequencing of a neurodevelopmental disorder patient reveals complex rearrangement involving the ARID1B gene<\/a><\/td>\nTam P. Sneddon, Mai Xiong, Karen E. Weck, Bradford C. Powell, Kimberly Foss, Erin L. Heinzen, Ana Berglind, Muge Gucsavas-Calikoglu, Stephanie Peck, Yael Shiloh-Malawsky, Zheng (Jane) Fan, Senyene E. Hunter<\/td>\nASHG<\/td>\n2024<\/td>\nPoster<\/td>\n<\/tr>\n
Engaging and training the community to curate with ClinGen <\/span><\/td>\nC. Thaxton on behalf of the C3 WG and ClinGen<\/span><\/td>\nBiomedical Data Repositories and Knowledgebases Program Network Meeting<\/span><\/td>\n2024<\/td>\nInvited speaker<\/span><\/td>\n<\/tr>\n
GENYSIS: a novel core facility for clinical evaluation of research genomic sequence<\/a><\/td>\nBradford Powell, Kimberly Foss, Elizabeth Hutchins, Scott Melville, Mai Xiong, Tam Sneddon<\/td>\nACMG<\/td>\n2024<\/td>\nPoster<\/td>\n<\/tr>\n
Structural Variant Analysis Unveils Loss-of-Function Promoter Deletion in Candidate Gene WDR44<\/a><\/td>\nTam P. Sneddon, Mai Xiong, Kelly L. Gilmore, Karen Weck, Bradford C. Powell, Neeta L. Vora<\/td>\nACMG<\/td>\n2024<\/td>\nPoster<\/td>\n<\/tr>\n
Enhancing health equity through culturally and<\/p>\n

linguistically-tailored genetics education materials<\/td>\n

Grace Leon-Lozano<\/td>\nMUSC 2024 Precision Health Research Symposium<\/td>\n2024<\/td>\nPresentation<\/td>\n<\/tr>\n
Enhancing health equity through culturally and linguistically-<\/p>\n

tailored genetics education materials<\/td>\n

Grace Leon-Lozano, Laura Milko<\/td>\nThe 17th Annual Conference on the Science of Dissemination and Implementation in Health (D&I)<\/td>\n2024<\/td>\nPoster<\/td>\n<\/tr>\n
Enhancing Health Equity Through Culturally and<\/p>\n

Linguistically Tailored Genetics Education Materials<\/td>\n

Grace Leon-Lozano<\/td>\nNIH Diversity Supplement Professional Development and Networking Workshop<\/td>\n2024<\/td>\nPoster<\/td>\n<\/tr>\n
Determining when to screen for rare monogenic disorders: How can natural history help?<\/a><\/td>\nJahnelle Jackson, Amelia Miranda, Kezia Kennedy, Jonathan Berg.<\/td>\nASHG<\/td>\n2024<\/td>\nPoster<\/td>\n<\/tr>\n
UNC EDGE Genomics: An Undergraduate Research Experience in Genomics.<\/td>\nSabrina Powell<\/td>\nACMG<\/td>\n2024<\/td>\nPlatform Presentation<\/td>\n<\/tr>\n
Willing but not (quite) ready: primary care provider perspectives on expanded genetic screening in children.<\/td>\nBranch E, de Jong N, Schilling S, Berg JS, Milko LV, Powell SN, Foreman AKM, Roberts MC, Donahue K.<\/td>\nACMG<\/td>\n2024<\/td>\nPoster<\/td>\n<\/tr>\n
The ClinGen Lysosomal Diseases Gene Curation Panel: Applying a standardized curation framework to assess the clinical validity of genes for lysosomal disease<\/span><\/td>\nEmily Groopman, Jenny Goldstein, Raquel Fernandez, Shruthi Mohan, Amber Stafford, Heather Baudet, Meredith Weaver, Lorne Clarke, Christina Hung, Rong Mao, Deeksha Bali, Filippo Pinto e Vairo, Lemuel Racacho, Tatiana Yuzyuk, William J. Craigen
\n<\/span><\/td>\n		WORLDSymposium<\/span><\/td>\n2024<\/td>\nPoster<\/td>\n<\/tr>\n
The ClinGen General Inborn Errors of Metabolism Gene Curation Expert Panel: Assessing the clinical validity of genes implicated in metabolic disorders<\/span><\/td>\nJenny Goldstein, William Craigen, Emily Brown, William Hankey, Sornnujah Kathirgamanathan, Josh Lowry, Justyne Ross, Raquel Fernandez, Meredith Weaver, Heather Baudet, Annette Feigenbaum, Christina Hung, Elaine Spector.<\/span><\/td>\nASHG<\/td>\n2023<\/td>\nPlatform presentation<\/span><\/td>\n<\/tr>\n
Interpreting genetic test results for ocular disorders: The basics of molecular diagnosis through application of results<\/span>
\n<\/span><\/td>\n		Kristy Lee<\/td>\nAssociation for Research in Vision and Ophthalmology Annual Conference<\/span><\/td>\n2023<\/td>\nInvited Speaker<\/span><\/td>\n<\/tr>\n
The ClinGen Variant Curation Expert Panel for Cerebral Creatine Deficiency Syndromes: Classifying the Clinical Significance of Variants in GATM, GAMT, and SLC6A8<\/span>
\n<\/span><\/td>\n		Jenny Goldstein, Amanda Thomas-Wilson, Vimla Aggarwal, Taraka Donti, Elena Feofanova, Nicole Liang, Daniel Reich, Raquel Fernandez, Meredith Weaver, Laura Trutoiu, Heidi Wallis, Juliann Savatt, Simona Bianconi, Emily Groopman, Nicola Longo, Sarah Young, Saadet Mercimek-Andrews<\/span><\/td>\nCCDS Scientific and Patient Symposium, Virtual<\/span><\/td>\n2023<\/td>\nPresentation<\/span><\/td>\n<\/tr>\n
CTLA4 Variant Curation Using Adapted ACMG\/AMP Guidelines<\/span>
\n<\/span><\/td>\n		Lindsay Worley, William Hankey, Kyle Hilliard, Shannon M. McNulty, Xiao P. Peng, Rashmi Chikarmane, Kristopher Wold, Bertrand Boisson, Charlotte Cunningham-Rundles, C.I. Edvard Smith, Michael B. Jordan, Carrie L. Lucas, Cindy S. Ma, Jesmeen Maimaris, Heather McLaughlin, Ilenia Simeoni, Asbjorg Stray-Pedersen, Menno C. van Zelm, Lijun Wang, Neil Romberg, Janet G. Markle, Anne Puel, Amber Begtrup, Alejandro Nieto-Patl\u00e1n<\/span><\/td>\nClinical Immunology Society Annual Meeting<\/span><\/td>\n2023<\/td>\nPoster<\/span><\/td>\n<\/tr>\n
Improving Genetic Testing for Antithrombin Deficiency by Optimizing ACMG\/AMP Variant Curation Guidelines for the SERPINC1 Gene<\/span>
\n<\/span><\/td>\n		Kristy Lee, Shruthi Mohan, Joel Morales, Christelle Orlando, Brian Branchford, David Tregouet, Pierre Morrange, on behalf of ClinGen Thrombosis VCEP<\/span><\/td>\nInternational Society of Thrombosis and Hemostasis Annual Congress<\/span><\/td>\n2023<\/td>\nPoster<\/span><\/td>\n<\/tr>\n
Characterizing Clinical Actionability in the Context of Polygenic Risk Assessment<\/span>
\n<\/span><\/td>\n		Bradford Powell, Adam H. Buchanan, Joanna Bulkley, Montserrat Garcia-Closas, Katrina A.B. Goddard, Stefan Massimino, Iftikhar J. Kullo, Jessica E. Hunter<\/span><\/td>\nACMG<\/span><\/td>\n2023<\/td>\nPoster<\/span><\/td>\n<\/tr>\n
Genome variant curation for better patient care<\/span><\/td>\nKristy Lee<\/td>\nInternational Society of Eye Research<\/span><\/td>\n2023<\/td>\nInvited speaker<\/span><\/td>\n<\/tr>\n
NIH-Funded Resources: ClinGen and ClinVar<\/span><\/td>\nJenny Goldstein<\/span><\/td>\nWORLDSymposium<\/span><\/td>\n2023<\/td>\nInvited speaker<\/span><\/td>\n<\/tr>\n
Precision Health Genetic Screening: Where is the Pipeline Leaky?<\/a><\/td>\nRachel Phillips, Erica Baynard, Kim Foss<\/td>\nUNC Department of Genetics Annual Retreat<\/td>\n2023<\/td>\nPoster<\/td>\n<\/tr>\n
Inclusion of Medically Underserved Populations in a Cohort with Developmental and Epileptic Encephalopathies<\/a><\/td>\nStephanie Peck, Erin L. Heinzen, Thomas Felton, Susan E. Wilson, Kimberly Foss, Yulissa Gonzalez, Zheng Fan, Muge Gucsavas-Calikoglu, Yael Shiloh-Malawsky, Senyene E. Hunter<\/td>\nCNS<\/td>\n2023<\/td>\nPoster<\/td>\n<\/tr>\n
Zellweger spectrum disorder: The case of a missing PEX1 allele in a fetus with multiple congenital anomalies<\/a><\/td>\nTam P. Sneddon, Kelly L. Gilmore, Elizabeth R. Jalazo, Bradford C. Powell, Neeta L. Vora<\/td>\nASHG<\/td>\n2023<\/td>\nPoster<\/td>\n<\/tr>\n
UNC EDGE Genomics: A new undergraduate training program to increase the genomics workforce.<\/td>\nPowell SN, Byfield G, Fraidenburg K, Furey T, Henderson GE, Powell BC, Whittington D, Berg JS, Ideraabdullah, F.<\/td>\nACMG<\/td>\n2023<\/td>\nPoster<\/td>\n<\/tr>\n
Co-designing genetics and genomics modules for community engagement.<\/td>\nByfield G, Powell SN, Torres D, Jackson J, Harrison LK, Orphanides AK, Ray K, James-Crook E, Owens TH, Shaw JL, Bradon L, Osborne H, O\u2019Daniel JM, Berg JS, Milko LV.<\/td>\n\u00a0ACMG<\/td>\n\u00a02023<\/td>\n\u00a0Poster<\/td>\n<\/tr>\n
Evaluating the Clinical Validity of Gene-Disease Relationships Underlying Motile Ciliopathies. <\/span>
\n<\/span><\/td>\n		William Hankey, Marwa Elnagheeb, Rahma Mani, Shannon McNulty, Maria-Ines Benito, Rasha Soliman, Alexander Ing, Mafalda de Almeida Gomes, Courtney Lynn Thaxton, Ben Gaston, Margaret Leigh, Catrina M. Loucks, Deborah Morris-Rosendahl, Simon Thomas, Maimoona Zariwala, Ewa Zi\u0119tkiewicz, Sharon Dell, Bernd Dworniczak, Keith Nykamp, Johanna Raidt, Mahmoud Fassad, Robert Hirst, Stephanie Davis, Estelle Escudier, Suzanne Crowley, Amelia Shoemark, Marie Legendre, Hannah Mitchison.<\/span><\/td>\n\n

Curating the Clinical Genome, virtual conference<\/span><\/p>\n<\/td>\n

2022<\/td>\nPoster<\/span><\/td>\n<\/tr>\n
ClinGen Community Curation Workshop Interactive – Baseline Annotation<\/span><\/a>
\n<\/span><\/td>\n		Courtney Thaxton, Erin Riggs, Laura Milko, Danielle Azzaritit, Marina Distefano, Jason Saliba, Jenny Goldstein, William Hankey, Shruthi Mohan, Lianna Paul, Taylor Bingaman, Molly Good, Ryan Webb, Hannah McCurry, Amanda Girod, and Enyonam Edoh <\/span><\/td>\n\n

ACMG<\/span><\/p>\n<\/td>\n

2022<\/td>\nWorkshop<\/span><\/td>\n<\/tr>\n
ClinGen Participation<\/span>
\n<\/span><\/td>\n		Courtney Thaxton<\/span><\/td>\n\n

H3Africa Workshop<\/span><\/p>\n<\/td>\n

2022<\/span><\/td>\nPresentation<\/span><\/td>\n<\/tr>\n
A Gene-Centric Nomenclature for Inherited Retinal Disorders Linked to Historical and Dysmorphology Terms<\/span>
\n<\/span><\/td>\n		William Hankey, Jennifer Goldstein, Panogiotis Segouniotis, Gavin Arno, Rob Hufnagel, Kristy Lee <\/span><\/td>\n\n

ACMG<\/span><\/p>\n<\/td>\n

2022<\/span><\/td>\nPoster<\/span><\/td>\n<\/tr>\n
Optimizing Variant Curation Guidelines to Improve Clinical Genetic Testing for RPE65 Retinopathies Utilizing the ClinGen Framework<\/span>
\n<\/span><\/td>\n		Kristy Lee, Justyne Ross, William Hankey, Lori Sullivan, Jacque Duncan, Radha Ayyagari, Andrew Webster, on behalf of LCA\/eoRD VCEP<\/span><\/td>\n\n

ARVO<\/span><\/p>\n<\/td>\n

2022<\/span><\/td>\nPoter<\/span><\/td>\n<\/tr>\n
Harnessing big data resources to improve curation and interpretation of clinically relevant genes and variants associated with inherited eye diseases<\/span><\/td>\nKristy Lee, Radha Ayyagari, Emily Place, Gavin Arno, Emmanuelle Souzea<\/span><\/td>\n\n

ARVO<\/span><\/p>\n<\/td>\n

2022<\/span><\/td>\nPresentation<\/span><\/td>\n<\/tr>\n
Monogenic Disease Delineation and Naming: Challenges and Points to Consider<\/span><\/td>\nThaxton C., DiStefano, M., Owens, E., Biesecker, L., Haendel, M., Hamosh, A., Plon, S., Rehm, H., Berg, J.S. <\/span><\/td>\n\n

CCG<\/span><\/p>\n<\/td>\n

2022<\/span><\/td>\nPlatform presentation<\/span><\/td>\n<\/tr>\n
The ClinGen General Inborn Errors of Metabolism Gene Curation Expert Panel: Assessing the clinical validity of genes implicated in metabolic disorders<\/span><\/td>\nJenny Goldstein, Emily Brown, William Hankey, Josh Lowry, Benjamin McLean, Jen McGlaughon, Justyne Ross, Lindsay Worley, Raquel Fernandez, Meredith Weaver, Heather Baudet, Annette Feigenbaum, Christina Hung, Elaine Spector, William Craigen. <\/span><\/td>\n\n

ASHG<\/span><\/p>\n<\/td>\n

2022<\/span><\/td>\nPlatform presentation<\/span><\/td>\n<\/tr>\n
Using the ClinGen Clinical Validity Framework to Assess the Strength of Evidence for Genes Associated with Antibody Deficiencies <\/span><\/td>\nShruti Mohan, Justyne E. Ross, Marwa Elnagheeb, Emma Owens, Alejandro Nieto, Autumn Self, Cherith Somerville, Julia Cooper, Michelle Paczosa, Olga Sarmento, Rasha Soliman, Lavvina Thiyagarajan, Anita Chandra, Stephen Jolles, Paul J Maglione, Capucine Picard, Craig D Platt, Anna Sediva, Kathleen Sullivan, Klaus Warnatz, Kejian Zhang, Forum Raval, Stuart G Tangye, and Roshini S. Abraham<\/span><\/td>\n\n

CCG<\/span><\/p>\n<\/td>\n

2022<\/span><\/td>\nPoster<\/span><\/td>\n<\/tr>\n
Update on the use of a modified-Delphi approach to define the pleiotropic GATA2 deficiency phenotype for the development of ACMG-AMP GATA2 variant curation rules<\/span><\/td>\nShruti Mohan, Eran Tallis, Taylor Walker, Sioban Keel, Marcin Wlodarski, Amy Hsu, Katherine R. Calvo, Simone Feurstein, Panagiotis Baliakas, Xi Luo, Guimin Gao, David Wu, and Lucy A. Godley on behalf of the Myeloid Malignancy Variant Curation Expert Panel<\/span><\/td>\n\n

CCG<\/span><\/p>\n<\/td>\n

2022<\/span><\/td>\nPlatform presentation<\/span><\/td>\n<\/tr>\n
The ClinGen Variant Curation Expert Panel for Cerebral Creatine Deficiency Syndromes: Classifying the Clinical Significance of Variants in GATM, GAMT, and SLC6A8<\/span><\/td>\nJenny Goldstein, Amanda Thomas-Wilson, Vimla Aggarwal, Taraka Donti, Elena Feofanova, Nicole Liang, Daniel Reich, Raquel Fernandez, Meredith Weaver, Laura Trutoiu, Heidi Wallis, Juliann Savatt, Simona Bianconi, Emily Groopman, Nicola Longo, Sarah Young, Saadet Mercimek-Andrews<\/span><\/td>\n\n

CCDS Scientific and Patient Symposium<\/span><\/p>\n<\/td>\n

2022<\/span><\/td>\n—<\/span><\/td>\n<\/tr>\n
ClinGen Gene Curation for Hemostasis and Thrombosis and Future Directions.\u201d International Society of Thrombosis and Hemostasis Annual Conference. London, England, UK. July 2022. <\/span><\/td>\nKristy Lee<\/span><\/td>\n\n

International Society of Thrombosis and Hemostasis Annual Conference<\/span><\/p>\n<\/td>\n

2022<\/span><\/td>\nInvited Speaker<\/span><\/td>\n<\/tr>\n
Development of a data model and programmatic tooling for annotation of functional assay evidence used in sequence variant interpretation<\/span>
\n<\/span><\/td>\n		McNulty S., Kanavy D.M., Jairath M.K., Thaxton C., Ward J., Iacocca M.A., Lopez Pineda A., Madhavrao R., Subramanian S.L., Wright M.W., and Powell B.C. <\/span><\/td>\n\n

ACMG (virtual)<\/span><\/p>\n<\/td>\n

2021<\/td>\nPoster<\/span><\/td>\n<\/tr>\n
Use of a modified-Delphi approach to define the pleiotropic GATA2-deficient phenotype
\nfor the development of ACMG-AMP GATA2 variant curation rules<\/span>
\n<\/span><\/td>\n		Shruti Mohan, Eran Tallis, Taylor Walker on behalf of the Myeloid Malignancy VCEP<\/span><\/td>\n\n

ASH<\/span><\/p>\n<\/td>\n

2021<\/td>\nPresentation<\/span><\/td>\n<\/tr>\n
Engaging Under-represented Groups in ClinGen<\/span>
\n<\/span><\/td>\n		Jonathan Berg, Danielle Azzariti, Katy Phelan, Alice Popejoy and Cinthya Zepeda-Mendoza<\/span><\/td>\n\n

ClinGen Virtual Retreat<\/span><\/p>\n<\/td>\n

2021<\/span><\/td>\nBreakout session workshop<\/span><\/td>\n<\/tr>\n
Variant Curation for Clinical Practice<\/span>
\n<\/span><\/td>\n		Justyne Ross on behalf of the Platelet Disorders VCEP<\/span><\/td>\n\n

ISTH Virtual Congress<\/span><\/p>\n<\/td>\n

2021<\/span><\/td>\nInvited speaker<\/span><\/td>\n<\/tr>\n
Variant Curation for Clinical Practice<\/span>
\n<\/span><\/td>\n		Shruthi Mohan on behalf of the Coagulation Factor Deficiency VCEP<\/span><\/td>\n\n

ISTH Virtual Congress<\/span><\/p>\n<\/td>\n

2021<\/span><\/td>\nInvited speaker<\/span><\/td>\n<\/tr>\n
Optimizing Variant Curation Guidelines to Improve Clinical Genetic Testing for Hemophilia A and B<\/span>
\n<\/span><\/td>\n		K. Lee, X. Chen, Q. Ding, K. Downes, B. Doshi, E.P. Ewen, A. Frantz, J. McCreery, S. Mohan, A.B. Payne, X. Tian, V. Trapp-Stamborski, N.S. Key, B.A. Konkle, K. Gomez on behalf of the ClinGen Coagulation Factor Deficiency Variant Curation Expert Panel<\/span><\/td>\n\n

ISTH Virtual Congress<\/span><\/p>\n<\/td>\n

2021<\/span><\/td>\nPoster<\/span><\/td>\n<\/tr>\n
ClinGen Contributor Perspectives: Main Session<\/span><\/a><\/td>\nCourtney Thaxton<\/span><\/td>\n\n

ClinGen Virtual Retreat<\/span><\/p>\n<\/td>\n

2021<\/td>\nPlatform Presentation<\/span><\/td>\n<\/tr>\n
Lumping and Splitting procedures (ClinGen\u2019s method to guide users through the disease-selection process, considering disease mechanism, mode of inheritance, and phenotypic variability)<\/span><\/a><\/td>\nCourtney Thaxton on behalf of the LSWG members
\nShared breakout session with Mondo biocurator Nicole Vasilevsky<\/span><\/td>\n		\n

ClinGen Virtual Retreat<\/span><\/p>\n<\/td>\n

2021<\/td>\nBreakout session workshop<\/span><\/td>\n<\/tr>\n
Web-assisted annotation using Hypothes.is (How curators can use this web-assisted tool to annotate a journal article, as a way to add additional information and context)<\/span><\/a><\/td>\nCourtney Thaxton on behalf of the C3 WG<\/span><\/td>\n\n

ClinGen Virtual Retreat<\/span><\/p>\n<\/td>\n

2021<\/td>\nBreakout session workshop<\/span><\/td>\n<\/tr>\n
Establishing Gene Curation and the Clinical Validity of Variants Causing Antibody Deficiency<\/span><\/a>
\n<\/span><\/td>\n		Justynne Ross1, Brooke C. Palus1, Emma Owens1, Shruthi Mohan1, Autumn Self1, Cherith Somerville2, Julia Cooper3, Michelle Paczosa4, Anita Chandra5, Stephen Jolles6, Paul Maglione7, Capucine Picard8, Craig Platt9, Anna Sediva10, Kate Sullivan11, Klaus Warnatz12, Kejian Zhang13, Forum Raval14, Stuart G Tangye15, and Roshini S. Abraham<\/span><\/td>\n\n

ClinGen Virtual Retreat<\/span><\/p>\n<\/td>\n

2021<\/td>\nPoster<\/span><\/td>\n<\/tr>\n
Evaluating the Clinical Validity of Congenital Myopathy Genes<\/span><\/a>
\n<\/span><\/td>\n		May Flowers1, Justyne Ross1, Brooke Palus1, Shannon M. McNulty1, Mayher J. Patel2, Hui Yang3, Alan H. Beggs4, Enrico Bertini5, Adele D’Amico5, Sandra Donkervoort6, James J. Dowling7, Fabiana Fattori5, Ana Ferreiro8, Casie A. Genetti4, Hernan Gonorazky9, Monkol Lek10, Amanda S. Lindy3, Livija Medne11, Francesco Muntoni12, 13, Sander Pajusalu10, Katarina Pelin14, Anna Sarkozy12, Tom Winder15, Grace Yoon16, Ozge Ceyhan-Birsoy17, and Carsten G. B\u00f6nnemann6; ClinGen Congenital Myopathies Gene Curation Expert Panel<\/span><\/td>\n\n

ClinGen Virtual Retreat<\/span><\/p>\n<\/td>\n

2021<\/td>\nPoster<\/span><\/td>\n<\/tr>\n
Establishing Standard Criteria to Improve the Interpretation of Genetic Testing for Ocular Disorders<\/span>
\n<\/span><\/td>\n		Lee K., G. Arno , R. Ayyagari , R. Chen , A. Frantz, K. Goetz, R. Hufnagel, L. Reis, E. Place, S. Roosing, E. Souzeau, P. Yu-Wai-Man, JS. Berg, B. Mansfield and J. Wiggs, on behalf of the ClinGen Ocular Clinical Domain Working Group<\/span><\/td>\n\n

ARVO Virutal<\/span><\/p>\n<\/td>\n

2021<\/td>\nPoster<\/span><\/td>\n<\/tr>\n
Determining genetic qualification for gene based therapy: Use of FDA recognized disease gene\/variant curation to facilitate gene based therapies<\/span>
\n<\/span><\/td>\n		Kristy Lee, Radha Ayyagari, Robert Hufnagel, Emily Place, Frans Cremers<\/span><\/td>\n\n

ARVO Virutal<\/span><\/p>\n<\/td>\n

2021<\/span><\/td>\nPresentation<\/span><\/td>\n<\/tr>\n
Use of a modified-Delphi approach to define the pleiotropic GATA2-deficient phenotype for the development of ACMG-AMP GATA2 variant curation rules<\/span>
\n<\/span><\/td>\n		Shruti Mohan, Eran Tallis, Sioban Keel, Marcin Wlodarski, Amy Hsu, Katherine R. Calvo, Simone Feurstein, Panagiotis Baliakas, Xi Luo, Guimin Gao, David Wu, and Lucy A. Godley *on behalf of the Myeloid Malignancy Variant Curation Expert Panel<\/span><\/td>\n\n

Curating the Clinical Genome (Virtual Conference)<\/span><\/p>\n<\/td>\n

2021<\/span><\/td>\nPoster<\/span><\/td>\n<\/tr>\n
Recommendations for the reorganization of the peroxisomal disease tree within the Monarch Disease Ontology based on the ClinGen peroxisomal disorders gene curation experience<\/span><\/a>
\n<\/span><\/td>\n		Nicole Vasilevsky, Shruti Mohan, Meredith Weaver, Heather Baudet, Irene De Biase, Alexa Dickson, Rong Mao, Ann Moser, Aurora Pujol, Sharon Suchy, Tatiana Yuzyuk, Nancy E Braverman<\/span><\/td>\n\n

ClinGen Virtual Retreat<\/span><\/p>\n<\/td>\n

2021<\/span><\/td>\nPoster<\/span><\/td>\n<\/tr>\n
Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework<\/span>
\n<\/span><\/td>\n		Shruti Mohan, Meredith Weaver, Megan Mayers, Heather Baudet, Lora Bean, Irene De Biase, Alexa Dickson, Jennifer Goldstein, Rong Mao, Jennifer McGlaughon, Ann Moser, Aurora Pujol, Steven Steinberg, Sharon Suchy, Tatiana Yuzyuk, Nancy E Braverman<\/span><\/td>\n\n

ACMG Annual Clinical Genetics Meeting (Virtual)<\/span><\/p>\n<\/td>\n

2021<\/td>\nPoster<\/span><\/td>\n<\/tr>\n
ClinGen’s Lumping and Splitting Working Group<\/span><\/a>
\n<\/span><\/td>\n		Courtney Thaxton on behalf of the LSWG members<\/span><\/td>\n\n

H3Africa Rare Disease Working Group and ClinGen Resource Workshop (Virtual)<\/span><\/p>\n<\/td>\n

2021<\/td>\nOral presentation<\/span><\/td>\n<\/tr>\n
Establishing Expert Panel in ClinGen<\/span><\/a>
\n<\/span><\/td>\n		Laura Milko on behalf of the CDWG OC<\/span><\/td>\n\n

H3Africa Rare Disease Working Group and ClinGen Resource Workshop (Virtual)<\/span><\/p>\n<\/td>\n

2021<\/td>\nOral presentation<\/span><\/td>\n<\/tr>\n
Specification Of The ACMG\/AMP Sequence Variant Interpretation Guidelines In The Context Of Multiple Disease Subtypes And Inheritance Patterns<\/span><\/td>\nJustyne Ross, Kristy Lee, Pamela Christopherson, Irene Corrales, Karl Desch, Jeroen Eikenboom, Kenneth Friedman, Elham Ghorbanpour, Dara McDougal, Alexander Reiner, Sarah Ryan, Mitchell Springer, Daniel Hampshire, Jill Johnsen, David Lillicrap<\/span><\/td>\n\n

ACMG<\/span><\/p>\n<\/td>\n

2020<\/td>\nPoster<\/span><\/td>\n<\/tr>\n
Computational Prediction Thresholds For The Curation Of Missense Variants – Insights From The ClinGen Coagulation Factor Deficiency Variant Curation Expert Panel<\/span><\/td>\nKristy Lee, Shruti Mohan, Bhavya Doshi, Kate Downes, Geoffrey Kemball-Cook, Frank Leebeek, Jamie McCreery, Dara McDougal, Connie Miller, Amanda Payne, Valerie Trapp-Stamborski, Barbara Konkle, Keith Gomez, on behalf of the ClinGen Coagulation Factor Deficiency Variant Curation Expert Panel<\/span><\/td>\n\n

ACMG<\/span><\/p>\n<\/td>\n

2020<\/td>\nPoster<\/span><\/td>\n<\/tr>\n
Advancing the Understanding and Significance of Genetic Testing Results in Hemostasis\/Thrombosis<\/span><\/td>\nDeMille, D., Lee K., Gomez K., Lambert, M.P., David Lillicrap, Morange P., Mumford A., Zehnder J., Berg, J.S., Key, N., on behalf of the ClinGen Hemostasis\/Thrombosis Clinical Domain Working Group Executive Committee<\/span><\/td>\n\n

International Society on Thrombosis and Hemostasis 2020, Virtual<\/span><\/p>\n<\/td>\n

2020<\/td>\nPoster<\/span><\/td>\n<\/tr>\n
Hemostasis\/Thrombosis Gene Curation to Inform Clinical Gene Testing Panel Development<\/span><\/td>\nKristy Lee<\/span><\/td>\n\n

International Society on Thrombosis and Hemostasis 2020, Virtual<\/span><\/p>\n<\/td>\n

2020<\/td>\nInvited Speaker<\/td>\n<\/tr>\n
Concise and Precise: Developing Accessible Patient Educational Materials for Population Health Genetic Screening.<\/td>\nPowell SN, Kuczynski KJ, Mollison L, Potter J, Roberts MC, and O\u2019Daniel JM.<\/td>\n\n

ACMG<\/p>\n<\/td>\n

\u00a02020<\/td>\nPoster<\/td>\n<\/tr>\n
ClinGen Community Curation: Crowd sourcing curation efforts from geneticists to citizen scientists.<\/span>
\n<\/span><\/td>\n		Courtney Thaxton1, Elizabeth Kearns1, Erin Riggs2, Laura Milko1, Jennifer Goldstein1, Shruti Rao3, C. Lisa Kurtz1, Danielle Azzariti4, Marina DiStefano5, Jennifer McGlaughon1, Daniella DeCristo1, Deborah Ritter6, Kelly Toner2, Chandler Douglas1, Matt Wright7, Ronak Patel6, on behalf of the ClinGen Community Curation Working Group<\/span><\/td>\n\n

ASHG<\/span><\/p>\n<\/td>\n

2019<\/td>\nPoster<\/span><\/td>\n<\/tr>\n
Assessing functional assays: a case study of functional data use in variant interpretation using a structured evidence curation framework<\/span><\/td>\nMcNulty S., Kanavy D.M., Jairath M.K., Brnich S.E,. Bizon C., Powell B.C., and Berg J.S.<\/span><\/td>\n\n

ASHG<\/span><\/p>\n<\/td>\n

2019<\/td>\nPoster<\/span><\/td>\n<\/tr>\n
Establishing the definition of \u201cwell-established\u201d functional assays: a case study of PS3\/BS3 application by ClinGen Variant Curation Expert Panels<\/span>
\n<\/span><\/td>\n		Dona Kanavy, Shannon McNulty, Meera Jairath, Sarah Brnich, Chris Bizon, Bradford Powell, Jonathan Berg<\/span><\/td>\n\n

CCG<\/span><\/p>\n<\/td>\n

2019<\/td>\nPoster<\/span><\/td>\n<\/tr>\n
Assessing the Strength of Evidence for Genes Implicated in Aminoacidopathies Using the ClinGen Clinical Validity Framework<\/span><\/td>\nJennifer Goldstein, Jennifer McGlaughon, Justyne Ross, Courtney Thaxton, Amanda Thomas, Kathleen Wallace1, Diane Zastrow, Meredith Weaver, Heather Baudet, Annette Feigenbaum, Uta Lichter-Konecki, Marzia Pasquali, William Craigen<\/span><\/td>\n\n

CCG<\/span><\/p>\n<\/td>\n

2019<\/td>\nPoster<\/span><\/td>\n<\/tr>\n
Opinions of ClinGen Members on the Use of ClinGen Clinical Validity Classifications in Genetic Testing<\/span><\/td>\nJennifer Goldstein, Julianne O\u2019Daniel, Marina DiStefano, Adam Buchanan, Kelly Ormond, Laura Milko, Heidi Rehm, Jonathan S Berg<\/span><\/td>\n\n

CCG<\/span><\/p>\n<\/td>\n

2019<\/td>\nPoster<\/span><\/td>\n<\/tr>\n
Specifications of the ACMG\/AMP Variant Curation Guidelines for the Analysis of ITGA2B\/ITGB3
\nSequence Variants: Recommendations by ClinGen\u2019s Platelet Disorders Expert Panel<\/span><\/td>\n		Kristy Lee1, Justyne Ross1, Brian Branchford2, Paul Bray3, Stefanie Dugan4, Kathleen Freson5, Paula
\nHeller6, Andrew Johnson7, Walter Kahr8, Michele Lambert9, Claire Lentaigne10, Minjie Luo9, Shruthi
\nMohan1, Andrew Mumford11, Juliana Perez Botero4, Matthew Rondina3, Gabriella Ryan12, Leighton
\nTelling1, Sarah Westbury11, Bing Zhang13, Wolfgang Bergmeier14, Jorge DiPaola2<\/span><\/td>\n		\n

CCG<\/span><\/p>\n<\/td>\n

2019<\/td>\nPoster<\/span><\/td>\n<\/tr>\n
Annotation Assisted Biocuration for Variant Analysis:
\nA beta test of the utility of crowd-sourcing biocuration<\/span><\/td>\n		Courtney Thaxton, Jennifer McGlaughon, Jennifer Goldstein, Justyne Ross, Megan Mayers, May Flowers, C.Lisa Kurtz, Jonathan Berg<\/span><\/td>\n\n

IAnnotate<\/span><\/p>\n<\/td>\n

2019<\/td>\nPlatform presentation<\/span><\/td>\n<\/tr>\n
Annotation assisted biocuration expedites curation and enhances data capture<\/span><\/td>\nCourtney Thaxton, Jennifer McGlaughon, Jennifer Goldstein, Justyne Ross, Megan Mayers, May Flowers, C.Lisa Kurtz, Jonathan Berg<\/span><\/td>\n\n

CCG<\/p>\n<\/td>\n

2019<\/td>\nPoster<\/td>\n<\/tr>\n
Making sense of missense: a pathway-based approach to functional assays for improved clinical variant interpretation<\/td>\nBrnich SE, Brandt, A, Berg JS<\/td>\n\n

ACMG Annual Clinical Genetics Meeting<\/p>\n<\/td>\n

2019<\/td>\nPlatform Presentation<\/td>\n<\/tr>\n
Opinions of ClinGen Members on the Use of ClinGen Clinical Validity Classifications in Genetic Testing<\/td>\nJennifer Goldstein, Julianne O\u2019Daniel, Marina DiStefano, Adam Buchanan, Kelly Ormond, Laura Milko, Heidi Rehm, Jonathan S Berg<\/span><\/td>\n\n

ACMG<\/span><\/p>\n<\/td>\n

2019<\/td>\nPoster<\/td>\n<\/tr>\n
Update on ASH-Sponsored ClinGen Variant Curation Expert Panel for Myeloid Malignancies
\n<\/span><\/td>\n		Shruti Mohan, Myeloid Malignancy VCEP<\/span><\/td>\n\n

ASH<\/span><\/p>\n<\/td>\n

2019<\/td>\nPlatform Presentation<\/span><\/td>\n<\/tr>\n
An In Silico Assessment of Functional Assay Impact on Clinical Variant Interpretation<\/a><\/td>\nS.E. Brnich, E.A. Rivera-Munoz, J.S.Berg<\/td>\nUNC MC-PhD Annual Retreat<\/td>\n2018<\/td>\nPoster<\/td>\n<\/tr>\n
Evaluation of Targeted Sequencing Technology to Screen 17 Genes for Actionable Conditions in Healthy Individuals<\/a><\/td>\nAlicia Brandt, Edgar A. Rivera-Munoz, Lonna Mollison, Chelsea Gustafson, Daniela DeCristo, Falecia Metcalf, James Evans, Gail Henderson, Jonathan S. Berg<\/td>\nACMG<\/td>\n2018<\/td>\nPoster<\/td>\n<\/tr>\n
Development of a Targeted Second-Tier Genetic Test for Conditions Examined during Newborn Screening<\/a><\/td>\nLonna Mollison, Chelsea Gustafson, Edgar A. Rivera-Munoz, Alicia Brandt, Daniela DeCristo, Falecia Metcalf, Cynthia Powell, Jonathan Berg<\/td>\nACMG<\/td>\n2018<\/td>\nPoster<\/td>\n<\/tr>\n
Restricted repertoire of ACMG variant interpretation criteria apply in screening<\/td>\nDaniela M. DeCristo, Edgar A. Rivera-Munoz, Monica Zeynalzadeh, Jonathan Berg<\/td>\nACMG<\/td>\n2018<\/td>\nPoster<\/td>\n<\/tr>\n
Dilemmas in defining pediatric actionability: preserving an open future when the genome is an open book<\/a><\/td>\n1Kathleen Wallace, 1Stephanie Crowley, 1Daniela DeCristo, 1Ann Katherine Foreman, 1Laura Milko, 1Lonna Mollison, 1Julianne O\u2019Daniel, 1Bradford Powell, 1,2Cynthia Powell, 1Jonathan Berg<\/td>\nACMG<\/td>\n2018<\/td>\nPoster<\/td>\n<\/tr>\n
Generation of Pathogenic and Benign BRCA2 Variants by Site-Directed Mutagenesis<\/a><\/td>\nEllington MG, Brnich S, Berg JS.<\/td>\nUNC BIOL395 Research Symposium<\/td>\n2018<\/td>\nPoster<\/td>\n<\/tr>\n
Theoretical and practical considerations for validation of functional assays in clinical variant interpretation applications.<\/td>\nBrnich SE, Sekelsky JJ, Berg JS.<\/td>\nAmerican Society of Human Genetics (ASHG) 2018 Annual Meeting<\/td>\n2018<\/td>\nPoster<\/td>\n<\/tr>\n
A Pathogenicity Calculator Assessment of Functional Assay Impact on Clinical Variant Interpretation.<\/td>\nS.E. Brnich, E.A. Rivera-Munoz, J.S.Berg<\/td>\nACMG Annual Clinical Genetics Meeting<\/td>\n2018<\/td>\nPoster<\/td>\n<\/tr>\n
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?<\/td>\nGoddard K, Paquin R, Mittendorf K, Lewis M, Zulkiewicz B, Leo M, Nyongesa D, Hunter J, Lee K, Williams M, Berg<\/td>\nCurating the Clinical Genome 2018 Conference<\/td>\n2018<\/td>\nPresentation<\/td>\n<\/tr>\n
ClinGen\u2019s Pediatric Actionability Working Group<\/td>\nHunter JE, Webber EM, Mittendorf K, Lee K, Williams MS, Powell BC, Goddard KAB<\/td>\nCurating the Clinical Genome 2018 Conference<\/td>\n2018<\/td>\nPoster Presentation<\/td>\n<\/tr>\n
Somatic Variant Data Integration in ACMG Classification of Germline Variants in Hereditary Cancers<\/td>\nRitter DI, Kesserwan C, Sonkin D, Chakravarity D, Chao E, Ghosh R, Lee K, Kulkarni S, Zhang L, Offit K, Plon SE, Walsh MF<\/td>\nCurating the Clinical Genome 2018 Conference<\/td>\n2018<\/td>\nPoster presentation<\/td>\n<\/tr>\n
Clinical Validity Assessment of Genes Frequently Tested on Hereditary Breast and Ovarian Cancer Susceptibility Sequencing Panels<\/td>\nLee 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<\/td>\nACMG<\/td>\n2018<\/td>\nPoster Presentation<\/td>\n<\/tr>\n
Somatic Variant Data Integration in ACMG Classification of Germline Variants in Hereditary Cancers<\/td>\nRitter DI, Kesserwan C, Sonkin D, Chakravarity D, Chao E, Ghosh R, Lee K, Kulkarni S, Zhang L, Offit K, Plon SE, Walsh MF<\/td>\nACMG<\/td>\n2018<\/td>\nPoster Presentation<\/td>\n<\/tr>\n
Clinician versus general population perceptions of the nature of clinical interventions for delaying or preventing outcomes related to inherited conditions<\/td>\nMittendorf KF, Paquin RS, Lewis M, Zulkiewicz B, Hunter JE, Lee K, Berg JS, Williams MC, Goddard KAB<\/td>\nACMG<\/td>\n2018<\/td>\nPoster Presentation<\/td>\n<\/tr>\n
Going beyond the ACMG recommendations for reporting secondary findings: from decision-making to follow-up<\/td>\nStrande, NT, Booker J, Foreman AK, Haskell GT, Lee K, O\u2019Daniel JM, Powell BC, Roche M, Seifert BA, Evans JP, Weck KE, Berg JS<\/td>\nASHG<\/td>\n2017<\/td>\nPoster Presentation<\/td>\n<\/tr>\n
Factor 8 assay discrepancy in a United States non-severe hemophilia A cohort<\/td>\nOkoye HC, Nielsen BI, Lee K, Key NS, Rollins-Raval MA<\/td>\nInternational Society on Thrombosis and Haemostasis<\/td>\n2017<\/td>\nPoster Presentation<\/td>\n<\/tr>\n
Validity Assessment of Genes Commonly Found on Clinically Available Hereditary Breast and Ovarian Cancer Susceptibility Sequencing Panels<\/td>\nLee K, Seifert B, Shimelis H, Ghosh R, Carter NJ, Crowley S, Doonanco K, Berg JS, Plon SE, Couch FJ<\/td>\nCurating the Clinical Genome Conference<\/td>\n2017<\/td>\nPoster Presentation<\/td>\n<\/tr>\n
Developing optimized ACMG-AMP criteria for classification of germline variants in TP53<\/td>\nPesaran 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<\/td>\nCurating the Clinical Genome Conference<\/td>\n2017<\/td>\nPoster Presentation<\/td>\n<\/tr>\n
Assessing the Clinical Validity of Genes Implicated in Hereditary Colorectal Cancer and Polyposis Using the ClinGen Framework.<\/td>\nSeifert 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.<\/td>\nCurating the Clinical Genome Conference<\/td>\n2017<\/td>\nPoster Presentation<\/td>\n<\/tr>\n
Optimization of the ACMG-AMP<\/p>\n

Criteria for CDH1 Variant Classification.<\/td>\n

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<\/td>\nCurating the Clinical Genome Conference<\/td>\n2017<\/td>\nPoster Presentation<\/td>\n<\/tr>\n
Beyond the ACMG 59: Identification of Clinically Actionability Secondary Findings by the ClinGen Actionability Working Group<\/td>\nWebber EM, Hunter JE, Lee K, Muessig KR, Biesecker LG, Buchanan AH, Lindor N, Martin CL, O\u2019Daniel JM, Ramos EM, Slavotinek A, Sobreira N, Weaver M, Williams MS, Evans JP, Goddard KA<\/td>\nCurating the Clinical Genome Conference<\/td>\n2017<\/td>\nPoster Presentation<\/td>\n<\/tr>\n
The who, what and why of research participants\u2019 intentions to request a broad range of secondary findings in a clinical diagnostic genomic sequencing study.<\/td>\nRini C, Khan C, Moore E, Roche M, Evans, JP, Berg JS, Powell BC, Foreman AKM, Griesemer I, Lee K, O\u2019Daniel J, Henderson G<\/td>\nThe 4th ELSI Congress<\/td>\n2017<\/td>\nPoster Presentation<\/td>\n<\/tr>\n
Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): Lessons Learned and Plans for the Future.<\/td>\nMilko 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<\/td>\nACMG<\/td>\n2017<\/td>\nPoster Presentation<\/td>\n<\/tr>\n
Assessing the Clinical Validity of Genes Implicated in Hereditary Colorectal Cancer and Polyposis Using the ClinGen Framework<\/td>\nSeifert 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<\/td>\nACMG<\/td>\n2017<\/td>\nPoster Presentation<\/td>\n<\/tr>\n
Clarity in the face of uncertainty: a nuanced classification of uncertain exome cases<\/td>\nStrande N, Booker J, Foreman AKM, Haskell G, Lee K, O\u2019Daniel J, Powell B, Seifert B, Evans JP, Berg JS, Weck KE<\/td>\nACMG<\/td>\n2017<\/td>\nPoster Presentation<\/td>\n<\/tr>\n
Integrating Somatic Variant Data to Aid in Classification of Germline Variants in Hereditary Cancer Genes using the ACMG\/AMP Guidelines<\/td>\nWalsh 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<\/td>\nACMG<\/td>\n2017<\/td>\nPoster Presentation<\/td>\n<\/tr>\n
Secondary and Incidental Findings from WES\/WGS<\/td>\nHunter 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<\/td>\nASHG<\/td>\n2017<\/td>\nPresentation<\/td>\n<\/tr>\n
Examining the role of functional assays in clinical variant interpretation.<\/td>\nBrnich SE, Berg JS.<\/td>\nUNC MSTP Monday Night Seminar Series<\/td>\n2017<\/td>\nOral Presentation<\/td>\n<\/tr>\n
Defining the pediatric actionability of genetic conditions for utility in newborn screening<\/a><\/td>\nKathleen Wallace, Stephanie Crowley, Daniela DeCristo, Kate Foreman, Laura Milko, Lonna Mollison, Julianne O\u2019Daniel, Bradford Powell, Cynthia Powell, Jonathan Berg.<\/td>\nCCG<\/td>\n2017<\/td>\nPoster<\/td>\n<\/tr>\n
High-throughput functional characterization of variants in DNA repair genes in cancer<\/a><\/td>\nSarah Brnich, Stephanie Bellendir, Bryce Seifert, Alicia Brandt, Andy Rivera, Jonathan Berg<\/td>\n4th Annual Advocated For Women in Science and Medicine Symposium<\/td>\n2017<\/td>\nPoster<\/td>\n<\/tr>\n
Stop, go, slow: pathogenic, nonpathogenic, still don’t know (A traffic light reporter assay for clinical interpretation of variants)<\/a><\/td>\nSarah Brnich, Stephanie Bellendir Crowley, Bryce Seifert, Alicia Brandt, Andy Rivera, Jonathan Berg<\/td>\nUNC Department of Genetics Annual Retreat<\/td>\n2017<\/td>\nPoster<\/td>\n<\/tr>\n
Paving the Way to Evidence-based Medical Genomics<\/td>\nKristy Lee<\/td>\nUNC Department of Genetics Annual Retreat<\/td>\n2017<\/td>\nPresentation<\/td>\n<\/tr>\n
Genome-scale Sequencing in Families and Individuals with Gastrointestinal Polyposis to Identify Potentially Pathogenic Variants in Candidate Polyposis Genes<\/td>\nSeifert BA, Lee K, Milko L, Evans JP, Berg JS<\/td>\nAMP<\/td>\n2016<\/td>\nPoster Presentation<\/td>\n<\/tr>\n
Beware of spurious findings: Challenges with variant interpretation in retinal conditions exhibiting extreme genetic heterogeneity<\/td>\nLee K, Adams MC, Berg JS<\/td>\nCurating the Clinical Genome Conference<\/td>\n2016<\/td>\nPoster Presentation<\/td>\n<\/tr>\n
Systematic assessment of variant classification for gene on hereditary cancer panels.<\/td>\nRivera-Munoz EA, Lee K, Ghosh R, Offit K, Plon SE<\/td>\nACMG<\/td>\n2016<\/td>\nPoster Presentation<\/td>\n<\/tr>\n
The road not taken: Exome \u201cResults\u201d that were not returned.<\/td>\nStrande NT, Haskell G, Booker JK, Foreman AKM, Lee K, O\u2019Daniel JM, Powell BC, Seifert BA, Weck KE, Evans JP, Berg JS<\/td>\nACMG<\/td>\n2016<\/td>\nPoster Presentation<\/td>\n<\/tr>\n
A Tell Tale Gene: Defining the Clinical Validity of Genes Associated with Hypertrophic Cardiomyopathy<\/td>\nKathleen 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<\/td>\nUNC Genetics Department Retreat<\/td>\n2016<\/td>\nPoster<\/td>\n<\/tr>\n
Listening to the genetic data: a comparative analysis of diagnostic and newborn screening panels for hearing loss<\/td>\nDeCristo 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<\/td>\n<\/td>\n2016<\/td>\nPoster<\/td>\n<\/tr>\n
Systematic Assessment of Variant Classification for Genes on hereditary cancer panels<\/td>\nEdgar A. Rivera-Munoz, Kristy Lee, Rajarshi Ghosh, Kenneth Offit, Sharon E. Plon<\/td>\nACMG<\/td>\n2016<\/td>\nPoster<\/td>\n<\/tr>\n
High-throughput functional characterization of variants in DNA repair genes in cancer<\/td>\nStephanie Bellendir, Natasha Strande, Bryce Seifert, Sarah Brnich, Jonathan Berg<\/td>\nUNC Department of Genetics Annual Retreat<\/td>\n2016<\/td>\nPoster<\/td>\n<\/tr>\n
Evolution of newborn screening: Molecular Inversion Probes Targeting Recommended Uniform Screening Panel Genes<\/a><\/td>\nAlicia Brandt, Chelsea Gustafson, Ruhi Rai, Kirk Wilhelmsen, Jonathan Berg<\/td>\nWinS (Women in Science Symposium)<\/td>\n2016<\/td>\nPoster<\/td>\n<\/tr>\n
Traditional diagnostic testing vs. Whole Exome Sequencing in evaluation of Neuromuscular Disorders<\/a><\/td>\nMichael Adams, Krunal Amin, Gloria Haskell, Zheng Fan, Jonathan S. Berg<\/td>\nACMG<\/td>\n2016<\/td>\n<\/td>\n<\/tr>\n
The Road Not Taken: Exome “Results” That Were Not Returned<\/td>\nStrande NT, Haskell GT, Booker JK, et al.<\/td>\nACMG<\/td>\n2016<\/td>\nPoster<\/a><\/td>\n<\/tr>\n
Assessing the Clinical Validity of Genes Implicated in Hereditary Breast and Ovarian Cancer Susceptibility Using the ClinGen Framework<\/td>\nSeifert BA, Lee K, Shimelis H, Ghosh R, et al.<\/td>\nACMG<\/td>\n2016<\/td>\nPresentation<\/a><\/td>\n<\/tr>\n
Systematic Assessment of Variant Classification for Genes on Hereditary Cancer Panels<\/td>\nRivera Munoz EA, Lee K, Ghosh R, Offit K, Plon S.<\/td>\nACMG<\/td>\n2016<\/td>\nPoster<\/a><\/td>\n<\/tr>\n
Weight and see: A systematic overview of category rankings within the semi-quantitative metric of the NCNEXUS project<\/td>\nGirnary Z, Milko L, Strande N, et al<\/td>\nACMG<\/td>\n2016<\/td>\nPoster<\/a><\/td>\n<\/tr>\n
ClinGen and ClinVar: Essentials for your Variant Interpretation Toolbox<\/td>\nKristy Lee<\/td>\nNCMGA<\/td>\n2016<\/td>\nPresentation<\/td>\n<\/tr>\n
Understanding the Genetics of Bleeding Disorders & Family Implications<\/td>\nKristy Lee<\/td>\nAnnual Hemophilia of North Carolina<\/td>\n2016<\/td>\nPresentation<\/td>\n<\/tr>\n
Sorting Through Variants Related to Phenotypes Associated with Extreme Genetic Heterogeneity<\/td>\nKristy Lee<\/td>\nACMG<\/td>\n2016<\/td>\nPresentation<\/td>\n<\/tr>\n
Systematic assessment of clinical actionability of genetic disorders associated with genomic variation by the ClinGen Actionability Working Group: the ACMG 56 and beyond<\/td>\nHunter 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<\/td>\nCurating the Clinical Genome Conference<\/td>\n2016<\/td>\nPresentation<\/td>\n<\/tr>\n
Assessing the clinical validity of gene implicated in hereditary breast and ovarian cancer susceptibility using the ClinGen framework<\/td>\nSeifert BA, Lee K, Shimelis H, Ghosh R, Lauer E, Strande NT, Ceyhan-Birsoy Q, Berg JS, Plon SE, Couch FJ<\/td>\nACMG<\/td>\n2016<\/td>\nPresentation<\/td>\n<\/tr>\n
ClinGen Actionability Working Group: Clinical Actionability in the context of Secondary Findings in Adults and Application to the ACMG 56.<\/td>\nHunter 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<\/td>\nASHG<\/td>\n2015<\/td>\nPoster Presentation<\/td>\n<\/tr>\n
Opening the floodgates to get a sip of water: Challenges of whole exome sequencing analysis as a diagnostic tool.<\/td>\nStrande NT, Bizon C, Booker JK, Brandt A, Foreman AKM, King I, Lee K, Milko L, O\u2019Daniel JM, Owen P, Powell BC, Seifert BA, Wilhelmsen KC, Berg JS, Weck KE<\/td>\nAssociation for Molecular Pathology Annual Meeting<\/td>\n2015<\/td>\nPoster Presentation<\/td>\n<\/tr>\n
Secondary findings from genomic sequencing: What NCGENES participant say they want, what they request, and how they respond.<\/td>\nRoche MI, Raspberry K, Skinner D, Guargia S, Foreman AK, Lee K, O\u2019Daniel J, Powell BC, Berg JS, Evans, JP, Henderson G<\/td>\nACMG<\/td>\n2015<\/td>\nPoster Presentation<\/td>\n<\/tr>\n
Research Sweep of Simplex breast cancer reveals TRP channel variants<\/a><\/td>\nSarah Brnich, Gloria T. Haskell, Daniel Marchuk, Jonathan Berg<\/td>\nJohn B. Graham Medical Student Research Day<\/td>\n2015<\/td>\nPoster<\/td>\n<\/tr>\n
Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings<\/td>\nSeifert BA, O’Daniel JM, Amin K, et al.<\/td>\nUNC Genetics Retreat<\/td>\n2015<\/td>\nPoster<\/a><\/td>\n<\/tr>\n
A Categorical Framework to Aid Parental Decision-Making for Next-Generation, Newborn Sequencing Results<\/td>\nGirnary Z, Milko LV, Brandt A, et al<\/td>\nUNC Genetics Retreat<\/td>\n2015<\/td>\nPoster<\/a><\/td>\n<\/tr>\n
Challenges of Whole Exome Sequencing Analysis as a Diagnostic Tool<\/td>\nStrande NT, Bizon C, Booker JK, et al.<\/td>\nAMP<\/td>\n2015<\/td>\nPoster<\/a><\/td>\n<\/tr>\n
Genomic Screening of the General Population<\/a><\/td>\nAdams M, Evans JP, Henderson G, et al.<\/td>\nACMG<\/td>\n2015<\/td>\nPoster<\/a><\/td>\n<\/tr>\n
Long QT Genes- Which came first, Validity or Clinical Testing?<\/td>\nBoshe L, Strande N, Berg JS, and O’Daniel J<\/td>\nACMG<\/td>\n2015<\/td>\nPoster<\/a><\/td>\n<\/tr>\n
Clinical Evaluation of Germline Sequencing for Hereditary Cancer Risk Assesment<\/td>\nAmin K, Seifert B, and Berg JS<\/td>\nBIOL395 (Undergraduate Course)<\/td>\n2015<\/td>\nPoster<\/a><\/td>\n<\/tr>\n
Genetic Testing for Retinal Conditions<\/td>\nKristy Lee<\/td>\nRaleigh-Durham Chapter of Foundation Fighting Blindness<\/td>\n2015<\/td>\nPresentation<\/td>\n<\/tr>\n
Challenges in Interpretation & Explanation of Exome Sequencing<\/td>\nKristy Lee<\/td>\nSoutheastern Regional Genetics Group<\/td>\n2015<\/td>\nPresentation<\/td>\n<\/tr>\n
University of North Carolina at Chapel Hill Exome Case Conference<\/td>\nKristy Lee<\/td>\nACMG Case Conference Webinar Series<\/td>\n2015<\/td>\nPresentation<\/td>\n<\/tr>\n
Clinical actionability of incidental findings: application of a semiquantitative metric to assess actionability in over 1200 genes<\/td>\nForeman AKM, Booker J, Boshe L, Crooks K, Evans JP, Jensen BC, Lee K, Nelson DK, O\u2019Daniel J, Powell BC, Roche M, Skrzynia C, Strande T, Weck KE, Wilhelmsen KC, Berg JS<\/td>\nASHG<\/td>\n2014<\/td>\nPoster Presentation<\/td>\n<\/tr>\n
Analysis of Whole Exome Datasets to Test the Hypothesis of Digenic Inheritance in Stargardt Disease<\/td>\nLee K, Marchuk D, Friez MJ, Bizon C, Owen P, Weck KE, Garg S, Evans JP, Berg JS.<\/td>\nASHG<\/td>\n2014<\/td>\nPoster Presentation<\/td>\n<\/tr>\n
Investigating Whole Exome Sequencing as a Diagnostic Test for Hereditary Retinal Disorders<\/td>\nLee K, Crooks K, Milko L, Lu M, Owen P, Weck KE, Evans JP, Berg JS, Garg S<\/td>\nACMG<\/td>\n2014<\/td>\nPoster Presentation<\/td>\n<\/tr>\n
Identifying Genetic Determinants of Mitral Valve Prolapse<\/a><\/td>\nHaskell GT, Marchuk D, Skrzynia C, et al.<\/td>\nACMG<\/td>\n2014<\/td>\nPoster<\/a><\/td>\n<\/tr>\n
Clinical Actionability of Incidental Findings: Application of a semiquantitative metric to assess actionability in over 1200 genes<\/a><\/td>\nForeman AKM, Booker JK, Boshe L, et al.<\/td>\nASHG<\/td>\n2014<\/td>\nPoster<\/a><\/td>\n<\/tr>\n
Exploring the diagnostic yield of whole exome sequencing in a broad range of genetic conditions: The first 300 cases in the NCGENES study<\/a><\/td>\nStrande N<\/td>\nASHG<\/td>\n2014<\/td>\nPresentation<\/a><\/td>\n<\/tr>\n
The ClinGen framework for defining the clinical validity of monogenic disease associations for use in research and clinical analyses<\/a><\/td>\nBerg JS, Birsoy O, Butte AJ, et al.<\/td>\nASHG<\/td>\n2014<\/td>\nPoster<\/a><\/td>\n<\/tr>\n
Diagnostic and Research Utility of Whole Exome Sequencing for Cardiac Disease<\/a><\/td>\nHaskell GT, Jensen BC, Skrzynia C, et al.<\/td>\nASHG<\/td>\n2014<\/td>\nPoster<\/a><\/td>\n<\/tr>\n
Application of Whole Exome Datasets to Test the Hypothesis of Digenic Inheritance in Stargardt Disease<\/a><\/td>\nLee K, Marchuk D, Friez MJ, et al.<\/td>\nASHG<\/td>\n2014<\/td>\nPoster<\/a><\/td>\n<\/tr>\n
Exploring the diagnostic yield of whole exome sequencing in a broad range of genetic conditions: the first 200 cases in the NCGENES study<\/td>\nStrande N, Bizon C, Booker J, Crooks K, Foreman AKM, Haskell G, Hayden M, Lee K, Lu M, Milko L, O\u2019Daniel J, Owen P, Powell B, Skrzynia C, Tilley C, Treece A, Young D, Wilhelmsen K, Weck KE, Berg JS, Evans JP<\/td>\nASHG<\/td>\n2014<\/td>\nPresentation<\/td>\n<\/tr>\n
Unanticipated results in whole exome study: we\u2019ve still a lot to learn.<\/td>\nSkrzynia C, O\u2019Daniel JM, Marchuck D, Lee K, Berg JS, Evans JP<\/td>\nEuropean Society of Human Genetics<\/td>\n2014<\/td>\nPresentation<\/td>\n<\/tr>\n
Investigating Whole Exome Sequencing as a Diagnostic Test for Hereditary Retinal Disorders<\/td>\nLee K, Crooks K, Milko L, et al.<\/td>\nACMG<\/td>\n2013<\/td>\nPoster<\/a><\/td>\n<\/tr>\n
Early Experiences with Genetic Counseling for Incidental Findings from Whole Exome Sequencing<\/td>\nLee K, Crooks K, Milko L, et al.<\/td>\nNSGC<\/td>\n2013<\/td>\nPoster<\/a><\/td>\n<\/tr>\n
An Informatics Pipeline for Identifying Clinically Relevant Incidental Variants in Whole Genome Sequences<\/a><\/td>\nBerg JS, Adams M, Nassar N, et al.<\/td>\nACMG<\/td>\n2012<\/td>\nPoster<\/a><\/td>\n<\/tr>\n
Whole Genome Analysis of High Risk Breast Cancer Families<\/td>\nLee K, Matthew J, Bloom R, et al.<\/td>\nACMG<\/td>\n2011<\/td>\nPoster<\/a><\/td>\n<\/tr>\n
Whole Genomic Analysis of High Risk Cancer Families<\/td>\nLee K, Berg JS, Sullivan PF, Evans JP<\/td>\nCGH<\/td>\n2009<\/td>\nPoster<\/a><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

 <\/p>\n

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  Title Authors Location Year Type Developing an Actionability Framework for Population Genomic Screening Kimberly Foss, MS, CGC, UNC-CH, Jessica Ezzell Hunter, PhD, Genomics, Ethics, and Translational Research Program, RTI International, Research Triangle Park, NC, Caitlin Allen, PhD, MPH, MUSC, Jonathan Berg, MD, PhD, UNC-CH, William Dotson, PhD, MS, CDC, Aaron Goldenberg, PhD, MA, MPH, … Read more<\/a><\/p>\n","protected":false},"author":1369,"featured_media":0,"parent":0,"menu_order":1,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"footnotes":"","_links_to":"","_links_to_target":""},"class_list":["post-2269","page","type-page","status-publish","hentry","odd"],"acf":[],"yoast_head":"\nPosters & Presentations - Berg Lab & Genomic Medicine Research Group<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.med.unc.edu\/genetics\/berglab\/posters-presentations\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Posters & Presentations - 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