Investigative genetic genealogy practices warranting policy attention: Results of a modified policy Delphi

Authors: Christi J. Guerrini, Louiza Kalokairinou, Jill O. Robinson, Whitney Bash Brooks, Stephanie M. Fullerton, Sara Huston, Jacklyn Dahlquist, Diana Madden, Norah Crossnohere, Nicola Campoamor, John F. P. Bridges, Amy L. McGuire

Source: PLoS Genetics, Vol 21, Iss 1 (2025)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11737847/?tool=EBI; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/a7ff5baa69f0488e96d1d3b65301cf6a

A conjunctural analysis of the origins of ‘embedded ELSI’ in U.S. genomic medicine

Authors: James Karabin, Chessa Adsit-Morris, Sandra Soo-Jin Lee, Stephanie M. Fullerton, Mildred K. Cho, Jenny Reardon

Source: Journal of Responsible Innovation, Vol 11, Iss 1 (2024)

Subject Terms: Embedded ethics, ELSI, genomics, conjuncture, integration, justice, Technological innovations. Automation, HD45-45.2

File Description: electronic resource

Relation: https://doaj.org/toc/2329-9460; https://doaj.org/toc/2329-9037

Access URL: https://doaj.org/article/b4b5a7bbab0848e3b718858f604e61e2

Applying health equity implementation science frameworks to population genetic screening

Authors: Nandana D. Rao, Stephanie M. Fullerton, Brian H. Shirts, Annie T. Chen, Nora B. Henrikson

Source: Frontiers in Health Services, Vol 4 (2024)

Subject Terms: health equity, population genetic screening, implementation science, hereditary cancer, genetic testing, Medicine

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/frhs.2024.1455365/full; https://doaj.org/toc/2813-0146

Access URL: https://doaj.org/article/0c06dace61a04b81a702ccce9008af79

Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project

Authors: Sarah L. Stenton, Melanie C. O’Leary, Gabrielle Lemire, Grace E. VanNoy, Stephanie DiTroia, Vijay S. Ganesh, Emily Groopman, Emily O’Heir, Brian Mangilog, Ikeoluwa Osei-Owusu, Lynn S. Pais, Jillian Serrano, Moriel Singer-Berk, Ben Weisburd, Michael W. Wilson, Christina Austin-Tse, Marwa Abdelhakim, Azza Althagafi, Giulia Babbi, Riccardo Bellazzi, Samuele Bovo, Maria Giulia Carta, Rita Casadio, Pieter-Jan Coenen, Federica De Paoli, Matteo Floris, Manavalan Gajapathy, Robert Hoehndorf, Julius O. B. Jacobsen, Thomas Joseph, Akash Kamandula, Panagiotis Katsonis, Cyrielle Kint, Olivier Lichtarge, Ivan Limongelli, Yulan Lu, Paolo Magni, Tarun Karthik Kumar Mamidi, Pier Luigi Martelli, Marta Mulargia, Giovanna Nicora, Keith Nykamp, Vikas Pejaver, Yisu Peng, Thi Hong Cam Pham, Maurizio S. Podda, Aditya Rao, Ettore Rizzo, Vangala G. Saipradeep, Castrense Savojardo, Peter Schols, Yang Shen, Naveen Sivadasan, Damian Smedley, Dorian Soru, Rajgopal Srinivasan, Yuanfei Sun, Uma Sunderam, Wuwei Tan, Naina Tiwari, Xiao Wang, Yaqiong Wang, Amanda Williams, Elizabeth A. Worthey, Rujie Yin, Yuning You, Daniel Zeiberg, Susanna Zucca, Constantina Bakolitsa, Steven E. Brenner, Stephanie M. Fullerton, Predrag Radivojac, Heidi L. Rehm, Anne O’Donnell-Luria

Source: Human Genomics, Vol 18, Iss 1, Pp 1-25 (2024)

Subject Terms: Rare disease, Genome sequencing, Genome interpretation, Variant prioritization, Best practices, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1479-7364

Access URL: https://doaj.org/article/29fbe7d26d88463789f004c8908aa4a7

Conflating race and ancestry: Tracing decision points about population descriptors over the precision medicine research life course

Authors: Michael Bentz, Aliya Saperstein, Stephanie M. Fullerton, Janet K. Shim, Sandra Soo-Jin Lee

Source: HGG Advances, Vol 5, Iss 1, Pp 100243- (2024)

Subject Terms: race, genetic ancestry, precision medicine, population descriptors, research, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247723000751; https://doaj.org/toc/2666-2477

Access URL: https://doaj.org/article/2f5db09de1af448c8c2cf86c76a92a42

Diagnostic yield of genetic screening in a diverse, community-ascertained cohort

Authors: Nandana D. Rao, Jailanie Kaganovsky, Emily A. Malouf, Sandy Coe, Jennifer Huey, Darwin Tsinajinne, Sajida Hassan, Kristine M. King, Stephanie M. Fullerton, Annie T. Chen, Brian H. Shirts

Source: Genome Medicine, Vol 15, Iss 1, Pp 1-12 (2023)

Subject Terms: Population genetic screening, Hereditary cancer, Hereditary hypercholesterolemia, Diverse communities, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1756-994X

Access URL: https://doaj.org/article/aaf51ee5b0d0495b9871dde4e113e737

Epigenome-wide DNA methylation association study of circulating IgE levels identifies novel targets for asthmaResearch in context

Authors: Kathryn Recto, Priyadarshini Kachroo, Tianxiao Huan, David Van Den Berg, Gha Young Lee, Helena Bui, Dong Heon Lee, Jessica Gereige, Chen Yao, Shih-Jen Hwang, Roby Joehanes, Scott T. Weiss, George T. O’Connor, Daniel Levy, Dawn L. DeMeo, Namiko Abe, Gonçalo Abecasis, Francois Aguet, Christine Albert, Laura Almasy, Alvaro Alonso, Seth Ament, Peter Anderson, Pramod Anugu, Deborah Applebaum-Bowden, Kristin Ardlie, Dan Arking, Donna K. Arnett, Allison Ashley-Koch, Stella Aslibekyan, Tim Assimes, Paul Auer, Dimitrios Avramopoulos, Najib Ayas, Adithya Balasubramanian, John Barnard, Kathleen Barnes, R. Graham Barr, Emily Barron-Casella, Lucas Barwick, Terri Beaty, Gerald Beck, Diane Becker, Lewis Becker, Rebecca Beer, Amber Beitelshees, Emelia Benjamin, Takis Benos, Marcos Bezerra, Larry Bielak, Joshua Bis, Thomas Blackwell, John Blangero, Nathan Blue, Eric Boerwinkle, Donald W. Bowden, Russell Bowler, Jennifer Brody, Ulrich Broeckel, Jai Broome, Deborah Brown, Karen Bunting, Esteban Burchard, Carlos Bustamante, Erin Buth, Brian Cade, Jonathan Cardwell, Vincent Carey, Julie Carrier, April P. Carson, Cara Carty, Richard Casaburi, Juan P. Casas Romero, James Casella, Peter Castaldi, Mark Chaffin, Christy Chang, Yi-Cheng Chang, Daniel Chasman, Sameer Chavan, Bo-Juen Chen, Wei-Min Chen, Yii-Der Ida Chen, Michael Cho, Seung Hoan Choi, Lee-Ming Chuang, Mina Chung, Ren-Hua Chung, Clary Clish, Suzy Comhair, Matthew Conomos, Elaine Cornell, Adolfo Correa, Carolyn Crandall, James Crapo, L. Adrienne Cupples, Joanne Curran, Jeffrey Curtis, Brian Custer, Coleen Damcott, Dawood Darbar, Sean David, Colleen Davis, Michelle Daya, Mariza de Andrade, Lisa de las Fuentes, Paul de Vries, Michael DeBaun, Ranjan Deka, Dawn DeMeo, Scott Devine, Huyen Dinh, Harsha Doddapaneni, Qing Duan, Shannon Dugan-Perez, Ravi Duggirala, Jon Peter Durda, Susan K. Dutcher, Charles Eaton, Lynette Ekunwe, Adel El Boueiz, Patrick Ellinor, Leslie Emery, Serpil Erzurum, Charles Farber, Jesse Farek, Tasha Fingerlin, Matthew Flickinger, Myriam Fornage, Nora Franceschini, Chris Frazar, Mao Fu, Stephanie M. Fullerton, Lucinda Fulton, Stacey Gabriel, Weiniu Gan, Shanshan Gao, Yan Gao, Margery Gass, Heather Geiger, Bruce Gelb, Mark Geraci, Soren Germer, Robert Gerszten, Auyon Ghosh, Richard Gibbs, Chris Gignoux, Mark Gladwin, David Glahn, Stephanie Gogarten, Da-Wei Gong, Harald Goring, Sharon Graw, Kathryn J. Gray, Daniel Grine, Colin Gross, C. Charles Gu, Yue Guan, Xiuqing Guo, Namrata Gupta, Jeff Haessler, Michael Hall, Yi Han, Patrick Hanly, Daniel Harris, Nicola L. Hawley, Jiang He, Ben Heavner, Susan Heckbert, Ryan Hernandez, David Herrington, Craig Hersh, Bertha Hidalgo, James Hixson, Brian Hobbs, John Hokanson, Elliott Hong, Karin Hoth, Chao (Agnes) Hsiung, Jianhong Hu, Yi-Jen Hung, Haley Huston, Chii Min Hwu, Marguerite Ryan Irvin, Rebecca Jackson, Deepti Jain, Cashell Jaquish, Jill Johnsen, Andrew Johnson, Craig Johnson, Rich Johnston, Kimberly Jones, Hyun Min Kang, Robert Kaplan, Sharon Kardia, Shannon Kelly, Eimear Kenny, Michael Kessler, Alyna Khan, Ziad Khan, Wonji Kim, John Kimoff, Greg Kinney, Barbara Konkle, Charles Kooperberg, Holly Kramer, Christoph Lange, Ethan Lange, Leslie Lange, Cathy Laurie, Cecelia Laurie, Meryl LeBoff, Jiwon Lee, Sandra Lee, Wen-Jane Lee, Jonathon LeFaive, David Levine, Joshua Lewis, Xiaohui Li, Yun Li, Henry Lin, Honghuang Lin, Xihong Lin, Simin Liu, Yongmei Liu, Yu Liu, Ruth J.F. Loos, Steven Lubitz, Kathryn Lunetta, James Luo, Ulysses Magalang, Michael Mahaney, Barry Make, Ani Manichaikul, Alisa Manning, JoAnn Manson, Lisa Martin, Melissa Marton, Susan Mathai, Rasika Mathias, Susanne May, Patrick McArdle, Merry-Lynn McDonald, Sean McFarland, Stephen McGarvey, Daniel McGoldrick, Caitlin McHugh, Becky McNeil, Hao Mei, James Meigs, Vipin Menon, Luisa Mestroni, Ginger Metcalf, Deborah A. Meyers, Emmanuel Mignot, Julie Mikulla, Nancy Min, Mollie Minear, Ryan L. Minster, Braxton D. Mitchell, Matt Moll, Zeineen Momin, May E. Montasser, Courtney Montgomery, Donna Muzny, Josyf C. Mychaleckyj, Girish Nadkarni, Rakhi Naik, Take Naseri, Pradeep Natarajan, Sergei Nekhai, Sarah C. Nelson, Bonnie Neltner, Caitlin Nessner, Deborah Nickerson, Osuji Nkechinyere, Kari North, Jeff O'Connell, Tim O'Connor, Heather Ochs-Balcom, Geoffrey Okwuonu, Allan Pack, David T. Paik, Nicholette Palmer, James Pankow, George Papanicolaou, Cora Parker, Gina Peloso, Juan Manuel Peralta, Marco Perez, James Perry, Ulrike Peters, Patricia Peyser, Lawrence S. Phillips, Jacob Pleiness, Toni Pollin, Wendy Post, Julia Powers Becker, Meher Preethi Boorgula, Michael Preuss, Bruce Psaty, Pankaj Qasba, Dandi Qiao, Zhaohui Qin, Nicholas Rafaels, Laura Raffield, Mahitha Rajendran, Vasan S. Ramachandran, D.C. Rao, Laura Rasmussen-Torvik, Aakrosh Ratan, Susan Redline, Robert Reed, Catherine Reeves, Elizabeth Regan, Alex Reiner, Muagututi‘a Sefuiva Reupena, Ken Rice, Stephen Rich, Rebecca Robillard, Nicolas Robine, Dan Roden, Carolina Roselli, Jerome Rotter, Ingo Ruczinski, Alexi Runnels, Pamela Russell, Sarah Ruuska, Kathleen Ryan, Ester Cerdeira Sabino, Danish Saleheen, Shabnam Salimi, Sejal Salvi, Steven Salzberg, Kevin Sandow, Vijay G. Sankaran, Jireh Santibanez, Karen Schwander, David Schwartz, Frank Sciurba, Christine Seidman, Jonathan Seidman, Frédéric Sériès, Vivien Sheehan, Stephanie L. Sherman, Amol Shetty, Aniket Shetty, Wayne Hui-Heng Sheu, M. Benjamin Shoemaker, Brian Silver, Edwin Silverman, Robert Skomro, Albert Vernon Smith, Jennifer Smith, Josh Smith, Nicholas Smith, Tanja Smith, Sylvia Smoller, Beverly Snively, Michael Snyder, Tamar Sofer, Nona Sotoodehnia, Adrienne M. Stilp, Garrett Storm, Elizabeth Streeten, Jessica Lasky Su, Yun Ju Sung, Jody Sylvia, Adam Szpiro, Daniel Taliun, Hua Tang, Margaret Taub, Kent Taylor, Matthew Taylor, Simeon Taylor, Marilyn Telen, Timothy A. Thornton, Machiko Threlkeld, Lesley Tinker, David Tirschwell, Sarah Tishkoff, Hemant Tiwari, Catherine Tong, Russell Tracy, Michael Tsai, Dhananjay Vaidya, Peter VandeHaar, Scott Vrieze, Tarik Walker, Robert Wallace, Avram Walts, Fei Fei Wang, Heming Wang, Jiongming Wang, Karol Watson, Jennifer Watt, Daniel E. Weeks, Joshua Weinstock, Bruce Weir, Lu-Chen Weng, Jennifer Wessel, Cristen Willer, Kayleen Williams, L. Keoki Williams, Scott Williams, Carla Wilson, James Wilson, Lara Winterkorn, Quenna Wong, Baojun Wu, Joseph Wu, Huichun Xu, Lisa Yanek, Ivana Yang, Ketian Yu, Seyedeh Maryam Zekavat, Yingze Zhang, Snow Xueyan Zhao, Wei Zhao, Xiaofeng Zhu, Elad Ziv, Michael Zody, Sebastian Zoellner

Source: EBioMedicine, Vol 95, Iss , Pp 104758- (2023)

Subject Terms: EWAS, DNA methylation, IgE, Asthma, RNA-Sequencing, Mendelian randomization, Medicine, Medicine (General), R5-920

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352396423003237; https://doaj.org/toc/2352-3964

Access URL: https://doaj.org/article/27216a63c1a4464a8d8e43ae3d837982

Cloud-based biomedical data storage and analysis for genomic research: Landscape analysis of data governance in emerging NIH-supported platforms

Authors: Jacklyn M. Dahlquist, Sarah C. Nelson, Stephanie M. Fullerton

Source: HGG Advances, Vol 4, Iss 3, Pp 100196- (2023)

Subject Terms: data sharing, cloud platforms, data governance, genomic databases, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247723000283; https://doaj.org/toc/2666-2477

Access URL: https://doaj.org/article/b2053d7d6f1d49a9bac0bc8b7267c6a1

Feasibility, acceptability, and limited efficacy of health system-led familial risk notification: protocol for a mixed-methods evaluation

Authors: Paula R. Blasi, Aaron Scrol, Melissa L. Anderson, Marlaine Figueroa Gray, Brooks Tiffany, Stephanie M. Fullerton, James D. Ralston, Kathleen A. Leppig, Nora B. Henrikson

Source: Pilot and Feasibility Studies, Vol 8, Iss 1, Pp 1-9 (2022)

Subject Terms: Genetic testing, Cascade testing, Lynch syndrome, Breast cancer, Ovarian cancer, Cancer risk, Medicine (General), R5-920

File Description: electronic resource

Relation: https://doaj.org/toc/2055-5784

Access URL: https://doaj.org/article/0402aec9ec8d44ae8ba5113e4976e02b

Population genomic screening: Ethical considerations to guide age at implementation

Authors: Scott J. Spencer, Stephanie M. Fullerton

Source: Frontiers in Genetics, Vol 13 (2022)

Subject Terms: bundled genomic screening, population screening, principlist ethics, utilitarian ethics, implementation, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.899648/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/22672d6cfc0f40688be51039ab1bfe23

Environmental scan of family chart linking for genetic cascade screening in a U.S. integrated health system

Authors: Cameron B. Haas, James Ralston, Stephanie M. Fullerton, Aaron Scrol, Nora B. Henrikson

Source: Frontiers in Genetics, Vol 13 (2022)

Subject Terms: genomic medicine, cascade genetic testing, electronic health record, family health history communication, genetics, technology, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.886650/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/7d5764babc00497191506422424e9f47

Lessons learned and recommendations for data coordination in collaborative research: The CSER consortium experience

Authors: Kathleen D. Muenzen, Laura M. Amendola, Tia L. Kauffman, Kathleen F. Mittendorf, Jeannette T. Bensen, Flavia Chen, Richard Green, Bradford C. Powell, Mark Kvale, Frank Angelo, Laura Farnan, Stephanie M. Fullerton, Jill O. Robinson, Tianran Li, Priyanka Murali, James M.J. Lawlor, Jeffrey Ou, Lucia A. Hindorff, Gail P. Jarvik, David R. Crosslin

Source: HGG Advances, Vol 3, Iss 3, Pp 100120- (2022)

Subject Terms: data sharing, data coordination, data harmonization, data governance, research informatics, research collaboration, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247722000367; https://doaj.org/toc/2666-2477

Access URL: https://doaj.org/article/676518aaf4d54c8f9b075c0181c31569

Conducting a large, multi-site survey about patients’ views on broad consent: challenges and solutions

Authors: Maureen E. Smith, Saskia C. Sanderson, Kyle B. Brothers, Melanie F. Myers, Jennifer McCormick, Sharon Aufox, Martha J. Shrubsole, Nanibaá A. Garrison, Nathaniel D. Mercaldo, Jonathan S. Schildcrout, Ellen Wright Clayton, Armand H. Matheny Antommaria, Melissa Basford, Murray Brilliant, John J. Connolly, Stephanie M. Fullerton, Carol R. Horowitz, Gail P. Jarvik, Dave Kaufman, Terri Kitchner, Rongling Li, Evette J. Ludman, Catherine McCarty, Valerie McManus, Sarah Stallings, Janet L. Williams, Ingrid A. Holm

Source: BMC Medical Research Methodology, Vol 16, Iss 1, Pp 1-11 (2016)

Subject Terms: Survey, Consent, Multi-site, Genomics, Institutional Review Board, Cognitive interviews, Medicine (General), R5-920

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12874-016-0263-7; https://doaj.org/toc/1471-2288

Access URL: https://doaj.org/article/3256bdbf3777489491af7c85b9d804ac

Celebrating STEM in Rural Communities: A Model for an Inclusive Science and Engineering Festival

Authors: Maureen Munn, Joan Griswold, Helene Starks, Stephanie M. Fullerton, Conan Viernes, Thelma Ann Sipe, Mike Brown, Craig Dwight, Randy Knuth, Sheldon Levia

Source: Journal of STEM Outreach. 2018 1(1).

Peer Reviewed: Y

Page Count: 11

Sponsoring Agency: National Institute of General Medical Sciences (NIGMS) (DHHS/NIH)
Department of Education (ED)

Descriptors: Rural Areas, STEM Education, Inclusion, Access to Education, Partnerships in Education, Program Implementation, Community Involvement, Hands on Science, Informal Education, Program Effectiveness

Geographic Terms: Washington

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