The Current Landscape of CDC Publications in Human Genomics and Public Health

Posted on by Mindy Clyne, W. David Dotson, Anja Wulf, Muin J. Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, Georgia

sequencing with a double helix and a doctor pointing to different icons above a farm fieldIn October 2021, the CDC Office of Genomics and Precision Public Health (OGPPH) launched a new, five-year initiative to strengthen public health capacity in genomics and precision medicine. The emergence of evidence-based genomic applications and lack of equity in their implementation in clinical and public health practice provided an important impetus for this initiative. To guide implementation, it is important to assess the current landscape of human genomics work at CDC and ATSDR (Agency for Toxic Substances and Disease Registry). That knowledge will help guide the development of public health use cases and thus the evidence base for public health action and enable CDC and other organizations to translate lessons learned into public health practices that maximize health and save lives.

Since 2011, OGPPH staff have assembled and curated an online, searchable database of CDC/ATSDR publications in human and pathogen genomics. The CDC-authored Genomics and Precision Health Publications Database (GPHPD) has more than 3,600 publications, most of which are in pathogen genomics and advanced molecular detection. This blog post presents an overview of these publications.

GPHPD was screened for CDC/ATSDR-authored publications about human genomics, including articles that assessed non-human genomes (e.g., pathogens, vectors). We included articles published from 2018-2021. This process yielded a total of 1,574 articles. Most articles (n=1,348, or 85.8%) pertained to non-human genomic publications. 156 (9.9%) were identified as human genomics/genetics publications. The remainder were considered non-genomic precision health publications.

All human genomics/genetics articles were coded according to topic and phase of translational research. We defined early phase research as basic or discovery research (T0-T1) and late phase research as applied and implementation research, surveillance, and development of evidence-based guidelines (T2-T4). We also classified the type of publication (i.e., original research, review article, method/tool, guideline, or commentary).

A line listing of all 156 papers is provided in the table below. 103 papers (66%) represented primary research studies, while 53 (34%) were reviews, commentaries, guidelines, cost analyses, modeling studies, etc. 79 (51%) articles reported on early phase research (T0-T1) and 77 (49%) reported on late phase research and programs (T2-T4).

The 156 papers listed 369 CDC/ATSDR authors, an average of about 2.4 CDC/ATSDR authors per publication, representing a total of 242 individuals at CDC/ATSDR. The majority (n = 177, 73%) of authors appeared on only one publication, while most others (n = 56, 23%) authored two or three publications.

Table 1 below shows the breakdown of the papers by the most common topics and by translation phases. For most (6 of 9) of the topics coded, there was a higher proportion of papers reflecting late vs. early phase research. Newborn Screening is perhaps the most classic example of established public health applications of human genomics in practice, and accordingly, this topic had the highest proportion (86%) of late-phase studies (T2-T4). This was followed by birth defects and developmental disabilities, cardiovascular disease, genetic testing, and cancer, which all showed relatively high proportions of later phase translational studies. In contrast, infectious diseases and environmental/occupational exposures reflected much higher proportions of early phase research.

Table 1. Human Genomics Papers by Topic and Translational Phase

aThe “other” category includes papers where the primary focus was not on any of the coded topics above. Additionally, papers that could apply to multiple topic areas, and did not have a primary focus in any single topic above, were placed in the “other” category.Early phase translation (T0-T1) studies correspond to basic and discovery studies, while Late phase translation (T2-T4) studies report on surveillance, applied and implementation research and the development of evidence-based guidelines.
Topic Translation Phase Total
Early Late
Birth Defects and Developmental Disabilities 9 16 25
Infectious Diseases 20 5 25
Environmental and Occupational Exposures 20 0 20
Cancer 7 11 18
Genetic Testing 5 8 13
Cardiovascular Disease 3 7 10
Newborn Screening 1 6 7
Diabetes 3 2 5
Othera 9 24 33
Total 77 79 156

Taken together, the publications demonstrate a rich landscape of human genomics studies affecting many areas of public health and representing almost all CDC Centers, Institutes and Offices An example of a CDC publication  within Newborn Screening addressed the recently recommended inclusion of spinal muscular atrophy (SMA) in newborn screening, requiring publicly available and appropriately characterized reference materials with various combinations of SMN1 and SMN2 copy number variants in newborn screening programs. Incorporation of next-generation sequencing technology on dried blood spots from NBS programs is another example. One systematic review of barriers and facilitators to genomic cascade screening for a variety of conditions was especially notable and provided impetus for an upcoming virtual mini-symposium and panel discussion. Other areas of public health represented by the overall OGPPH review process include birth defects and developmental disabilities, common adult chronic diseases such as cancer; heart disease; and diabetes; infectious diseases, vaccines, and environmental and occupational exposures.

Going forward, an important focus of the new initiative is to extend CDC work into research, surveillance, and programs that promote equitable implementation and measure population health outcomes. Our immediate next step is to support exemplary applied public health research at CDC, including:

Public Health Investigations: The new initiative seeks to strengthen public health’s ability to measure the impact of human genomic variation in selected public health investigations of health threats and community concerns. From infectious disease outbreaks (including but not limited to COVID-19) to environmental exposures and vaccines, the tools of human genomics will allow public health to elevate its ability to identify specific populations at risk from health threats and those that could benefit more from appropriate interventions.

Evidence Reviews and Modeling: The evidence base for integrating human genomics into public health practice needs to be strengthened. This initiative will support evidence analysis, systematic reviews, cost-effectiveness analysis, modeling, and forecasting of the value added and impact of adding specific human genomic applications into public health programs.

Implementation Science: There is also a strong need for community-based implementation science projects that would allow public health and health care to assess how best to implement evidence-based human genomic applications to reduce health disparities and maximize health for all people.

We will update our readers on the overall progress and specific projects throughout the year.

*Review conducted 12/10/2021. Additional publications published in 2021 but after 12/10/2021 are not included in this summary.


PubMed ID Title Authors (CDC/ATSDR Authors in bold) Journal Year
29300382 Proposed outcomes measures for state public health genomic programs. Debra Lochner Doyle, Mindy Clyne, Juan L Rodriguez, Deborah L Cragun, Laura Senier, Georgia Hurst, Kee Chan, and David A Chambers Genetics in medicine : official journal of the American College of Medical Genetics  2018
29317202 Structural characterization of cardiolipin-driven activation of cytochrome C into a peroxidase and membrane perturbation. Dariush Mohammadyani, Naveena Yanamala, Alejandro K Samhan-Arias, Alexander A Kapralov, German Stepanov, Nick Nuar, Joan Planas-Iglesias, Narinder Sanghera, Valerian E Kagan, and Judith Klein-Seetharaman Biochimica et biophysica acta  2018
29360870 Association of maternal KIR gene content polymorphisms with reduction in perinatal transmission of HIV-1. Yusuf O Omosun, Anna J BlackstockJohn Williamson, Anne Maria van Eijk, John Ayisi, Juliana Otieno, Renu B Lal, Feiko O ter Kuile, Laurence Slutsker, and Ya Ping Shi PloS one  2018
29385592 Communication of cancer-related genetic and genomic information: A landscape analysis of reviews. Emily B Peterson, Wen-Ying Sylvia Chou, Anna Gaysynsky, Melinda Krakow, Ashley Elrick, Muin J Khoury, and Kimberly A Kaphingst Translational behavioral medicine 2018
29395989 Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. David J Birnkrant, Katharine Bushby, Carla M Bann, Susan D Apkon, Angela Blackwell, David Brumbaugh, Laura E Case, Paula R Clemens, Stasia Hadjiyannakis, Shree Pandya, Natalie Street, Jean Tomezsko, Kathryn R Wagner, Leanne M Ward, David R Weber, and DMD Care Considerations Working Group The Lancet. Neurology 2018
29395990 Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. David J Birnkrant, Katharine Bushby, Carla M Bann, Benjamin A Alman, Susan D Apkon, Angela Blackwell, Laura E Case, Linda Cripe, Stasia Hadjiyannakis, Aaron K Olson, Daniel W Sheehan, Julie Bolen, David R Weber, Leanne M Ward, and DMD Care Considerations Working Group The Lancet. Neurology  2018
29470458 Prevalence of Amyotrophic Lateral Sclerosis – United States, 2014. Paul MehtaWendy KayeJaime RaymondRuoming WuTheodore LarsonReshma PunjaniDaniel HellerJessica CohenTracy PetersOleg Muravov, and Kevin Horton MMWR. Morbidity and mortality weekly report  2018
29474574 Evidence-based medicine and big genomic data. John P A Ioannidis, and Muin J Khoury Human molecular genetics 2018
29474986 Recommendations for Clinical CYP2C19 Genotyping Allele Selection: A Report of the Association for Molecular Pathology. Victoria M Pratt, Andria L Del Tredici, Houda Hachad, Yuan Ji, Lisa V Kalman, Stuart A Scott, and Karen E Weck The Journal of molecular diagnostics : JMD 2018
29486769 Association of chronic fatigue syndrome with premature telomere attrition. Mangalathu S RajeevanJanna Murray, Lisa Oakley, Jin-Mann S Lin, and Elizabeth R Unger Journal of translational medicine 2018
29581125 Prevalence and Predictors of Cholesterol Screening, Awareness, and Statin Treatment Among US Adults With Familial Hypercholesterolemia or Other Forms of Severe Dyslipidemia (1999-2014). Emily M Bucholz, Angie Mae Rodday, Katherine KolorMuin J Khoury, and Sarah D de Ferranti Circulation 2018
29630701 Molecular Epidemiology and the Transformation of HIV Prevention. Alexandra M OsterAnne Marie France, and Jonathan Mermin JAMA 2018
29641561 Discovery of genetic variants of the kinases that activate tenofovir among individuals in the United States, Thailand, and South Africa: HPTN067. Dominique B Figueroa, Joseph Tillotson, Maoji Li, Estelle Piwowar-Manning, Craig W Hendrix, Timothy H Holtz, Kevin Bokoch, Linda-Gail Bekker, Frits van Griensven, Sharon Mannheimer, James P Hughes, Robert M Grant, and Namandjé N Bumpus PloS one 2018
29731177 Administrative Data to Explore the Role of Family History as a Risk Factor for Herpes Zoster. Rafael Harpaz, and Rebecca M Dahl Mayo Clinic proceedings 2018
29733727 Precision Medicine In Action: The Impact Of Ivacaftor On Cystic Fibrosis-Related Hospitalizations. Lisa B Feng, Scott D GrosseRidgely Fisk Green, Aliza K Fink, and Gregory S Sawicki Health affairs (Project Hope)  2018
29733963 Time-course analysis of microRNA-induced mesenchymal-to-epithelial transition underscores the complexity of the underlying molecular processes. Loukia N Lili, Andrew D Huang, Mengnan Zhang, Lijuan Wang, L DeEtte McDonald, Lilya V Matyunina, Minati Satpathy, and John F McDonald Cancer letters  2018
29741717 Influenza-Associated Acute Necrotizing Encephalopathy in Siblings. Ashley Howard, Timothy M Uyeki, and Jaime Fergie Journal of the Pediatric Infectious Diseases Society 2018
29752313 Schistosomiasis Induces Persistent DNA Methylation and Tuberculosis-Specific Immune Changes. Andrew R DiNardo, Tomoki Nishiguchi, Emily M Mace, Kimal Rajapakshe, Godwin Mtetwa, Alexander Kay, Gugu Maphalala, W Evan Secor, Rojelio Mejia, Jordan S Orange, Cristian Coarfa, Kapil N Bhalla, Edward A Graviss, Anna M Mandalakas, and George Makedonas Journal of immunology (Baltimore, Md. 2018
29765139 Is universal tumor testing for Lynch syndrome cost-effective? It depends! Scott D Grosse Genetics in medicine : official journal of the American College of Medical Genetics 2018
29907802 Evaluating the role of public health in implementation of genomics-related recommendations: a case study of hereditary cancers using the CDC Science Impact Framework. Ridgely Fisk GreenMary AriKatherine KolorW David DotsonScott BowenNancy HabartaJuan L RodriguezLisa C Richardson, and Muin J Khoury Genetics in medicine : official journal of the American College of Medical Genetics  2018
29921353 Chromosome Translocations and Cosmic Radiation Dose in Male U.S. Commercial Airline Pilots. Barbara Grajewski, Lee C Yong, Stephen J Bertke, Parveen Bhatti, Mark P Little, Marilyn J Ramsey, James D Tucker, Elizabeth M WardElizabeth A Whelan, Alice J Sigurdson, and Martha A Waters Aerospace medicine and human performance 2018
29959025 Characterization of 108 Genomic DNA Reference Materials for 11 Human Leukocyte Antigen (HLA) Loci: A GeT-RM Collaborative Project. Maria P Bettinotti, Deborah Ferriola, Jamie L Duke, Timothy L Mosbruger, Nikolaos Tairis, Lawrence Jennings, Lisa V Kalman, and Dimitri Monos The Journal of molecular diagnostics : JMD  2018
29988321 Case-control meta-analysis of blood DNA methylation and autism spectrum disorder. Shan V Andrews, Brooke Sheppard, Gayle C Windham, Laura A Schieve, Diana E Schendel, Lisa A Croen, Pankaj Chopra, Reid S Alisch, Craig J Newschaffer, Stephen T Warren, Andrew P Feinberg, M Daniele Fallin, and Christine Ladd-Acosta Molecular autism 2018
30095240 Family history of immune conditions and autism spectrum and developmental disorders: Findings from the study to explore early development. Lisa A Croen, Yinge Qian, Paul Ashwood, Julie L Daniels, Daniele Fallin, Diana Schendel, Laura A Schieve, Alison B Singer, and Ousseny Zerbo Autism research : official journal of the International Society for Autism Research 2018
30100610 Genomic sequencing in acutely ill infants: what will it take to demonstrate clinical value? Scott D Grosse, and Lauge Farnaes Genetics in medicine : official journal of the American College of Medical Genetics 2018
30114233 Correction: A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health. Muin J Khoury, W Gregory Feero, David A Chambers, Lawrence C Brody, Nazneen Aziz, Robert C Green, A Cecile J W Janssens, Michael F Murray, Laura Lyman Rodriguez, Joni L Rutter, Sheri D Schully, Deborah M Winn, and George A Mensah PLoS medicine 2018
30123835 UsinDecision Analysis to Support Newborn Screening Policy Decisions: A Case Study for Pompe Disease. Lisa A Prosser, K K Lam, Scott D Grosse, Mia Casale, and Alex R Kemper MDM policy & practice 2018
30177761 Influenza virus infection causes global RNAPII termination defects. Nan Zhao, Vittorio Sebastiano, Natasha Moshkina, Nacho Mena, Judd Hultquist, David Jimenez-Morales, Yixuan Ma, Alex Rialdi, Randy Albrecht, Romain Fenouil, Maria Teresa Sánchez-Aparicio, Juan Ayllon, Sweta Ravisankar, Bahareh Haddad, Jessica Sook Yuin Ho, Diana Low, Jian Jin, Vyacheslav Yurchenko, Rab K Prinjha, Alexander Tarakhovsky, Massimo Squatrito, Dalila Pinto, Kimaada Allette, Minji Byun, Melissa Laird Smith, Robert Sebra, Ernesto Guccione, Terrence Tumpey, Nevan Krogan, Benjamin Greenbaum, Harm van Bakel, Adolfo García-Sastre, and Ivan Marazzi Nature structural & molecular biology 2018
30197419 HLBS-PopOmics: an online knowledge base to accelerate dissemination and implementation of research advances in population genomics to reduce the burden of heart, lung, blood, and sleep disorders. George A Mensah, Wei Yu, Whitney L Barfield, Mindy Clyne, Michael M Engelgau, and Muin J Khoury Genetics in medicine : official journal of the American College of Medical Genetics 2018
30425067 Prevalence of inherited blood disorders and associations with malaria and anemia in Malawian children. Patrick T McGann, Anne M Williams, Graham Ellis, Kathryn E McElhinney, Laurel Romano, Julia Woodall, Thad A Howard, Gerald Tegha, Robert Krysiak, R Murray Lark, E Louise Ander, Carine Mapango, Kenneth I Ataga, Satish Gopal, Nigel S Key, Russell E Ware, and Parminder S Suchdev Blood advances  2018
30462626 Prevalence of Amyotrophic Lateral Sclerosis – United States, 2015. Paul MehtaWendy KayeJaime RaymondReshma PunjaniTheodore LarsonJessica CohenOleg Muravov, and Kevin Horton MMWR. Morbidity and mortality weekly report 2018
30466105 Current Social Media Conversations about Genetics and Genomics in Health: A Twitter-Based Analysis. Caitlin G Allen, Brittany Andersen, Muin J Khoury, and Megan C Roberts Public health genomics 2018
30506398 Communication About Hereditary Cancers on Social Media: A Content Analysis of Tweets About Hereditary Breast and Ovarian Cancer and Lynch Syndrome. Caitlin G Allen, Megan Roberts, Brittany Andersen, and Muin J Khoury Journal of cancer education : the official journal of the American Association for Cancer Education 2018
30536049 The contribution of parent-to-offspring transmission of telomeres to the heritability of telomere length in humans. Dayana A Delgado, Chenan Zhang, Kevin Gleason, Kathryn Demanelis, Lin S Chen, Jianjun Gao, Shantanu Roy, Justin Shinkle, Mekala Sabarinathan, Maria Argos, Lin Tong, Alauddin Ahmed, Tariqul Islam, Muhammad Rakibuz-Zaman, Golam Sarwar, Hasan Shahriar, Mahfuzar Rahman, Muhammad Yunus, Jennifer A Doherty, Farzana Jasmine, Muhammad G Kibriya, Habibul Ahsan, and Brandon L Pierce Human genetics 2018
30607663 Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders. David Buchbinder, Fabian Hauck, Michael H Albert, Anita Rack, Shahrzad Bakhtiar, Anna Shcherbina, Elena Deripapa, Kathleen E Sullivan, Ludmila Perelygina, Marc Eloit, Bénédicte Neven, Philippe Pérot, Despina Moshous, Félipe Suarez, Christine Bodemer, Francisco A Bonilla, Louise E Vaz, Alfons L Krol, Christoph Klein, Mikko Seppanen, Diane J Nugent, Jasjit Singh, and Hans D Ochs Journal of clinical immunology 2019
30658701 Simultaneous extraction of mRNA and microRNA from whole blood stabilized in tempus tubes. Jendai RichardsElizabeth R Unger, and Mangalathu S Rajeevan BMC research notes 2019
30679488 Initiation of Pulmonary Fibrosis after Silica Inhalation in Rats is linked with Dysfunctional Shelterin Complex and DNA Damage Response. Mohammad ShoebGul M MustafaPius JosephChristina UmbrightVamsi KodaliKatherine A RoachTerence MeighanJenny R RobertsAaron Erdely, and James M Antonini Scientific reports  2019
30694310 Precision Medicine vs Preventive Medicine. Muin J Khoury JAMA  2019
30704319 miRNA-378a as a key regulator of cardiovascular health following engineered nanomaterial inhalation exposure. Quincy A Hathaway, Andrya J Durr, Danielle L Shepherd, Mark V Pinti, Ashley N Brandebura, Cody E Nichols, Amina Kunovac, William T Goldsmith, Sherri A Friend, Alaeddin B Abukabda, Garrett K Fink, Timothy R Nurkiewicz, and John M Hollander Nanotoxicology 2019
30753477 Using deep learning to identify translational research in genomic medicine beyond bench to bedside. Yi-Yu Hsu, Mindy Clyne, Chih-Hsuan Wei, Muin J Khoury, and Zhiyong Lu Database : the journal of biological databases and curation  2019
30760804 Effect of Age, High-Fat Diet, and Rat Strain on Serum Biomarkers and Telomere Length and Global DNA Methylation in Peripheral Blood Mononuclear Cells. James M AntoniniVamsi KodaliTerence G MeighanKatherine A RoachJenny R RobertsRebecca SalmenGreg R BoycePatti C Zeidler-ErdelyMichael KashonAaron Erdely, and Mohammad Shoeb Scientific reports 2019
30767786 Ten years of Genome Medicine. Charles Auffray, Julian L Griffin, Muin J Khoury, James R Lupski, and Matthias Schwab Genome medicine 2019
30907781 Monitoring and Dose Assessment for Children Following a Radiation Emergency-Part II: Calibration Factors for Thyroid Monitoring. Chunsheng Li, Marilyn Tremblay, Kevin Capello, Osamu Kurihara, Mike Youngman, George Etherington, Armin Ansari, María Antonia López, Didier Franck, and Shaheen Dewji Health physics 2019
31118158 Preventive care services and health behaviors in children with fragile X syndrome. Kendra E Gilbertson, Hannah L Jackson, Eric J Dziuban, Stephanie L Sherman, Elizabeth M Berry-Kravis, Craig A Erickson, and Rodolfo Valdez Disability and health journal  2019
31142608 Practical Guidance to Implementing Quality Management Systems in Public HealthLaboratories Performing Next Generation Sequencing: Personnel, Equipment, and Process Management (Phase 1). Rebecca J HutchinsKristy L PhanAdeeba SaboorJoseph D MillerAtis Muehlenbachs, and CDC NGS Quality Workgroup Journal of clinical microbiology 2019
31146342 Multi-Walled Carbon Nanotube-Induced Gene Expression Biomarkers for Medical and Occupational Surveillance. Brandi N Snyder-Talkington, Chunlin Dong, Salvi Singh, Rebecca Raese, Yong QianDale W PorterMichael G Wolfarth, and Nancy L Guo International journal of molecular sciences 2019
31159903 Potential risk factors for Ebstein anomaly, National Birth Defects Prevention Study, 1997-2011. Karrie F DowningTiffany Riehle-ColarussoSuzanne M Gilboa, Angela E Lin, Matthew E OsterSarah C TinkerSherry L Farr, and National Birth Defects Prevention Study Cardiology in the young  2019
31167647 Entropy of mitochondrial DNA circulating in blood is associated with hepatocellular carcinoma. David S Campo, Vishal Nayak, Ganesh Srinivasamoorthy, and Yury Khudyakov BMC medical genomics  2019
31172187 Family History-Wide Association Study (“FamWAS”) for Identifying Clinical and Environmental Risk Factors for Common Chronic Diseases. Danielle Rasooly, John P A Ioannidis, Muin J Khoury, and Chirag J Patel American journal of epidemiology 2019
31194188 Differential gene regulation in human small airway epithelial cells grown in monoculture versus coculture with human microvascular endothelial cells following multiwalled carbon nanotube exposure. Brandi N Snyder-Talkington, Chunlin Dong, Vincent Castranova, Yong Qian, and Nancy L Guo Toxicology reports 2019
31219738 Emerging Concepts in Precision Medicine and Cardiovascular Diseases in Racial and Ethnic Minority Populations. George A Mensah, Cashell Jaquish, Pothur Srinivas, George J Papanicolaou, Gina S Wei, Nicole Redmond, Megan C Roberts, Cheryl Nelson, Larissa Aviles-Santa, Mona Puggal, Melissa C Green Parker, Mollie A Minear, Whitney Barfield, Kathleen N Fenton, Cheryl Anne Boyce, Michael M Engelgau, and Muin J Khoury Circulation research 2019
31287796 Challenges and opportunities for integrating genetic testing into a diagnostic workflow: heritable long QT syndrome as a model. Ira M LubinEdward R Lockhart, Julie Frank, Vincent Y See, Sudhir Vashist, and Carol Greene Diagnosis (Berlin, Germany)  2019
31315115 Beyond Public Health Genomics: Can Big Data and Predictive Analytics Deliver Precision Public Health? Muin J Khoury, Michael Engelgau, David A Chambers, and George A Mensah Public health genomics 2019
31328417 Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data. Mary M Jenkins, Lynn M Almli, Faith Pangilinan, Jessica X Chong, Elizabeth E Blue, Stuart K Shapira, Janson White, Daniel McGoldrick, Joshua D Smith, James C Mullikin, Christopher J Bean, Wendy N Nembhard, Xiang-Yang Lou, Gary M Shaw, Paul A Romitti, Kim Keppler-Noreuil, Mahsa M Yazdy, Denise M Kay, Tonia C Carter, Andrew F Olshan, Kristin J Moore, Nanette Nascone-Yoder, Richard H Finnell, Philip J Lupo, Marcia L Feldkamp, , Deborah A Nickerson, Michael J Bamshad, Lawrence C Brody, Jennita Reefhuis, Birth defects research  2019
31329369 Origins and organization of the NHLBI State of the Science Workshop: Generating a national blueprint for future research on factor VIII inhibitors. Denise E Sabatino, Steven W Pipe, Diane J Nugent, J Michael SoucieW Craig Hooper, W Keith Hoots, and Donna M DiMichele Haemophilia : the official journal of the World Federation of Hemophilia  2019
31367172 Perspective: The Clinical Use of Polygenic Risk Scores: Race, Ethnicity, and Health Disparities. Megan C Roberts, Muin J Khoury, and George A Mensah Ethnicity & disease 2019
31454511 Specific birth defects in pregnancies of women with diabetes: National Birth Defects Prevention Study, 1997-2011. Sarah C TinkerSuzanne M GilboaCynthia A Moore, D Kim Waller, Regina M SimeoneShin Y Kim, Denise J Jamieson, Lorenzo D Botto, Jennita Reefhuis, and National Birth Defects Prevention Study American journal of obstetrics and gynecology 2019
31566869 Trisomy 13 and 18-Prevalence and mortality-A multi-registry population based analysis. Nitin Goel, Joan K Morris, David Tucker, Hermien E K De Walle, Marian K Bakker, Vijaya Kancherla, Lisa Marengo, Mark A Canfield, Karin Kallen, Nathalie Lelong, Jorge L Camelo, Erin B Stallings, Abbey M Jones, Amy Nance, My-Phuong Huynh, Maria-Luisa Martínez-Fernández, Antonin Sipek, Anna Pierini, Wendy N Nembhard, Dorit Goetz, Anke Rißmann, Boris Groisman, Leonora Luna-Muñoz, Elena Szabova, Serhiy Lapchenko, Ignacio Zarante, Paula Hurtado-Villa, Laura E Martinez, Giovanna Tagliabue, Danielle Landau, Miriam Gatt, Saeed Dastgiri, and Margery Morgan American journal of medical genetics 2019
31578266 IL-36? Is a Key Regulator of Neutrophil Infiltration in the Vaginal Microenvironment and Limits Neuroinvasion in Genital HSV-2 Infection. Jameson K Gardner, Alison Swaims-Kohlmeier, and Melissa M Herbst-Kralovetz Journal of immunology (Baltimore, Md. : 1950) 2019
31607210 Polychlorinated biphenyl exposure and DNA methylation in the Anniston Community Health Survey. Gary S Pittman, Xuting Wang, Michelle R Campbell, Sherry J Coulter, James R Olson, Marian Pavuk, Linda S Birnbaum, and Douglas A Bell Epigenetics 2019
31616589 Adapterama II: universal amplicon sequencing on Illumina platforms (TaggiMatrix). Travis C Glenn, Todd W Pierson, Natalia J Bayona-Vásquez, Troy J Kieran, Sandra L Hoffberg, Jesse C Thomas Iv, Daniel E Lefever, John W Finger, Bei Gao, Xiaoming Bian, Swarnali Louha, Ramya T Kolli, Kerin E Bentley, Julie Rushmore, Kelvin Wong, Timothy I Shaw, Michael J Rothrock, Anna M McKee, Tai L Guo, Rodney Mauricio, Marirosa Molina, Brian S Cummings, Lawrence H Lash, Kun Lu, Gregory S Gilbert, Stephen P Hubbell, and Brant C Faircloth PeerJ  2019
31618076 Five months of voluntary wheel running downregulates skeletal muscle LINE-1 gene expression in rats. Matthew A Romero, Petey W Mumford, Paul A Roberson, Shelby C Osburn, Hailey A Parry, Andreas N Kavazis, L Bruce Gladden, Tonia S Schwartz, Brent A Baker, Ryan G Toedebusch, Thomas E Childs, Frank W Booth, and Michael D Roberts American journal of physiology. Cell physiology 2019
31632276  In Vivo Activation and Pro-Fibrotic Function of NF-?B in Fibroblastic Cells During Pulmonary Inflammation and Fibrosis Induced by Carbon Nanotubes. Jie Dong, and Qiang Ma Frontiers in pharmacology 2019
31632691 Tracking human genes along the translational continuum. Kyubum Lee, Mindy Clyne, Wei Yu, Zhiyong Lu, and Muin J Khoury NPJ genomic medicine  2019
31654503 Genome-wide association studies of structural birth defects: A review and commentary. Philip J Lupo, Laura E Mitchell, and Mary M Jenkins Birth defects research 2019
31658304 Infectious vaccine-derived rubella viruses emerge, persist, and evolve in cutaneous granulomas of children with primary immunodeficiencies. Ludmila PerelyginaMin-Hsin ChenSuganthi SuppiahAdebola AdebayoEmily Abernathy, Morna Dorsey, Lionel Bercovitch, Kenneth Paris, Kevin P White, Alfons Krol, Julie Dhossche, Ivan Y Torshin, Natalie Saini, Leszek J Klimczak, Dmitry A Gordenin, Andrey Zharkikh, Stanley Plotkin, Kathleen E Sullivan, and Joseph Icenogle PLoS pathogens  2019
31694980 Ensuring the Life-Span Benefits of Newborn Screening. Alex R Kemper, Coleen A Boyle, Jeffrey P Brosco, and Scott D Grosse Pediatrics 2019
31793006 New research directions on disparities in obesity and type 2 diabetes. Pamela L Thornton, Shiriki K Kumanyika, Edward W Gregg, Maria R Araneta, Monica L Baskin, Marshall H Chin, Carlos J Crespo, Mary de Groot, David O Garcia, Debra Haire-Joshu, Michele Heisler, Felicia Hill-Briggs, Joseph A Ladapo, Nangel M Lindberg, Spero M Manson, David G Marrero, Monica E Peek, Alexandra E Shields, Deborah F Tate, and Carol M Mangione Annals of the New York Academy of Sciences  2019
31808788 DNA-Based Population Screening: Potential Suitability and Important Knowledge Gaps. Michael F Murray, James P Evans, and Muin J Khoury JAMA  2019
31890475 Awareness of breast cancer risk related to a positive family history and alcohol consumption among women aged 15-44 years in United States. Jaya S KhushalaniJin QinDonatus U Ekwueme, and Arica White Preventive medicine reports 2020
31900482 Population-level human secretor status is associated with genogroup 2 type 4 norovirus predominance. Cory J Arrouzet, Karen Ellis, Anita Kambhampati, Yingxi Chen, Molly Steele, and Ben Lopman The Journal of infectious diseases 2020
31943044 Heritage and Genealogy Travel Health Concerns in the Era of In-home DNA Testing. Kristina M Angelo, Jennifer Breiman, Henry M Wu, Jeffrey Nemhauser, and Allison T Walker Journal of travel medicine 2020
31959411 Biomarker profile in stable Fontan patients. Anita Saraf, Christine De Staercke, Ian Everitt, Alice Haouzi, Yi-An Ko, Staci Jennings, Jonathan H Kim, Fred H Rodriguez, Andreas P Kalogeropoulos, Arshed Quyyumi, and Wendy Book International journal of cardiology 2020
32025627 Cost-Effectiveness of Risk-Stratified Colorectal Cancer Screening Based on Polygenic Risk: Current Status and Future Potential. Steffie K Naber, Suman Kundu, Karen M Kuntz, W David Dotson, Marc S Williams, Ann G Zauber, Ned Calonge, Doris T Zallen, Theodore G Ganiats, Elizabeth M Webber, Katrina A B Goddard, Nora B Henrikson, Marjolein van Ballegooijen, A Cecile J W Janssens, and Iris Lansdorp-Vogelaar JNCI cancer spectrum  2020
32033227 Improving Screening Uptake among Breast Cancer Survivors and Their First-Degree Relatives at Elevated Risk to Breast Cancer: Results and Implications of a Randomized Study in the State of Georgia. Joseph Lipscomb, Cam Escoffery, Theresa W Gillespie, S Jane Henley, Robert A Smith, Toni Chociemski, Lyn Almon, Renjian Jiang, Xi Sheng, Michael Goodman, and Kevin C Ward International journal of environmental research and public health  2020
32078367 Cancer Informatics for Cancer Centers (CI4CC): Building a Community Focused on Sharing Ideas and Best Practices to Improve Cancer Care and Patient Outcomes. Jill S Barnholtz-Sloan, Dana E Rollison, Amrita Basu, Alexander D Borowsky, Alex Bui, Jack DiGiovanna, Montserrat Garcia-Closas, Jeanine M Genkinger, Travis Gerke, Marta Induni, James V Lacey, Lisa Mirel, Jennifer B Permuth, Joel Saltz, Elizabeth A Shenkman, Cornelia M Ulrich, W Jim Zheng, Sorena Nadaf, and Warren A Kibbe JCO clinical cancer informatics  2020
32125000 Retinopathy develops at similar glucose levels but higher HbA 1c levels in people with black African ancestry compared to white European ancestry: evidence for the need to individualize HbA 1c  interpretation. L R Staimez, M K Rhee, Y Deng, S E Safo, S M Butler, B T Legvold, S L Jackson, C N Ford, P W F Wilson, Q Long, and L S Phillips Diabetic medicine : a journal of the British Diabetic Association  2020
32131477 Modeling the Genetic Basis of Individual Differences in Susceptibility to Gulf War Illness. Byron C Jones, Diane B Miller, Lu Lu, Wenyuan Zhao, David G Ashbrook, Fuyi Xu, Megan K Mulligan, Robert W Williams, Daming Zhuang, Carolina Torres-Rojas, and James P O’Callaghan Brain sciences  2020
32266521 A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis. Cristina M Justice, Araceli Cuellar, Krithi Bala, Jeremy A Sabourin, Michael L Cunningham, Karen Crawford, Julie M Phipps, Yan Zhou, Deirdre Cilliers, Jo C Byren, David Johnson, Steven A Wall, Jenny E V Morton, Peter Noons, Elizabeth Sweeney, Astrid Weber, Katie E M Rees, Louise C Wilson, Emil Simeonov, Radka Kaneva, Nadezhda Yaneva, Kiril Georgiev, Assen Bussarsky, Craig Senders, Marike Zwienenberg, James Boggan, Tony Roscioli, Gianpiero Tamburrini, Marta Barba, Kristin Conway, Val C Sheffield, Lawrence Brody, James L Mills, Denise Kay, Robert J Sicko, Peter H Langlois, Rachel K Tittle, Lorenzo D Botto, Mary M Jenkins, Janine M Lasalle, Wanda Lattanzi, Andrew O M Wilkie, Alexander F Wilson, Paul A Romitti, Simeon A Boyadjiev, and National Birth Defects Prevention Study Human genetics  2020
32294219 Systems genetics and systems biology analysis of paraquat neurotoxicity in BXD recombinant inbred mice. Carolina Torres-Rojas, Daming Zhuang, Paola Jimenez-Carrion, Isabel Silva, James P O’Callaghan, Lu Lu, Wenyuan Zhao, Megan K Mulligan, Robert W Williams, and Byron C Jones Toxicological sciences : an official journal of the Society of Toxicology 2020
32423335 Etiology of Prelingual Hearing Loss in the Universal Newborn Hearing Screening Era: A Scoping Review. Ashley Satterfield-Nash, Ayesha Umrigar, and Tatiana M Lanzieri Otolaryngology–head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2020
32449871 Potential classification of chemical immunologic response based on gene expression profiles. Stacey E AndersonRachel BaurMichael KashonEwa LukomskaLisa Weatherly, and Hillary L Shane Journal of immunotoxicology  2020
32514487 Assessing the Performance of Dried-Blood-Spot DNA Extraction Methods in Next Generation Sequencing. Miyono M HendrixCarla D Cuthbert, and Suzanne K Cordovado International journal of neonatal screenin 2020
32540390 Redundant meta-analyses are common in genetic epidemiology. Matthew Sigurdson, Muin J Khoury, and John P A Ioannidis Journal of clinical epidemiology 2020
32574576 Genome-wide Transcriptome Architecture in a Mouse Model of Gulf War Illness. Fuyi Xu, David G Ashbrook, Jun Gao, Athena Starlard-Davenport, Wenyuan Zhao, Diane B MillerJames P O’Callaghan, Robert W Williams, Byron C Jones, and Lu Lu Brain, behavior, and immunity  2020
32588068 MYDGF attenuates podocyte injury and proteinuria by activating Akt/BAD signal pathway in mice with diabetic kidney disease. Mingjuan He, Yixiang Li, Li Wang, Bei Guo, Wen Mei, Biao Zhu, Jiajia Zhang, Yan Ding, Biying Meng, Liming Zhang, Lin Xiang, Jing Dong, Min Liu, Lingwei Xiang, and Guangda Xiang Diabetologia  2020
32629249 Dioxin-like compound exposures and DNA methylation in the Anniston Community Health Survey Phase II. Gary S Pittman, Xuting Wang, Michelle R Campbell, Sherry J Coulter, James R Olson, Marian Pavuk, Linda S Birnbaum, and Douglas A Bell The Science of the total environment 2020
32629851 Conserved Oligomeric Golgi (COG) Complex Proteins Facilitate Orthopoxvirus Entry, Fusion and Spread. Susan RealegenoLalita PriyamvadaAmrita Kumar, Jessica B Blackburn, Claire Hartloge, Andreas S Puschnik, Suryaprakash SambharaVictoria A Olson, Jan E Carette, Vladimir Lupashin, and Panayampalli Subbian Satheshkumar Viruses  2020
32639228 Coronavirus Disease among Persons with Sickle Cell Disease, United States, March 20-May 21, 2020. Julie A Panepinto, Amanda Brandow, Lana Mucalo, Fouza Yusuf, Ashima Singh, Bradley Taylor, Katherine Woods, Amanda B PayneGeorgina Peacock, and Laura A Schieve Emerging infectious diseases  2020
32674794 Precision Health Analytics With Predictive Analytics and Implementation Research: JACC State-of-the-Art Review. Thomas A Pearson, Robert M Califf, Rebecca Roper, Michael M Engelgau, Muin J Khoury, Carmela Alcantara, Craig Blakely, Cheryl Anne Boyce, Marishka Brown, Thomas L Croxton, Kathleen Fenton, Melissa C Green Parker, Andrew Hamilton, Lorens Helmchen, Lucy L Hsu, David M Kent, Amy Kind, John Kravitz, George John Papanicolaou, Mattia Prosperi, Matt Quinn, LeShawndra N Price, Paula K Shireman, Sharon M Smith, Rhonda Szczesniak, David Calvin Goff, and George A Mensah Journal of the American College of Cardiology 2020
32679249 Potential antitumor activity of digitoxin and user-designed analog administered to human lung cancer cells. Reem Eldawud, Alixandra Wagner, Chenbo Dong, Neha Gupta, Yon Rojanasakul, George O’Doherty, Todd A Stueckle, and Cerasela Zoica Dinu Biochimica et biophysica acta. General subjects  2020
32768390 STROBE-metagenomics: a STROBE extension statement to guide the reporting of metagenomics studies. Tehmina Bharucha, Clarissa Oeser, Francois Balloux, Julianne R Brown, Ellen C Carbo, Andre Charlett, Charles Y Chiu, Eric C J Claas, Marcus C de Goffau, Jutte J C de Vries, Marc Eloit, Susan Hopkins, Jim F Huggett, Duncan MacCannell, Sofia Morfopoulou, Avindra Nath, Denise M O’Sullivan, Lauren B Reoma, Liam P Shaw, Igor Sidorov, Patricia J Simner, Le Van Tan, Emma C Thomson, Lucy van Dorp, Michael R Wilson, Judith Breuer, and Nigel Field The Lancet. Infectious diseases  2020
32775614 Age-dependent stress response DNA demethylation and gene upregulation accompany nuclear and skeletal muscle remodeling following acute resistance-type exercise in rats. Erik P Rader, and Brent A Baker Facets (Ottawa) 2020
32778443 Are There Regional Differences in Triple Negative Breast Cancer among Non-Hispanic Black Women? Shelton J BartleyManxia WuVicki Benard, Christine Ambrosone, and Lisa C Richardson Journal of the National Medical Association 2020
32805001 Precision Public Health as a Key Tool in the COVID-19 Response. Sonja A Rasmussen, Muin J Khoury, and Carlos Del Rio JAMA  2020
32881847 Evaluation of CDC’s Hemophilia Surveillance Program – Universal Data Collection (1998-2011) and Community Counts (2011-2019), United States. Laura A SchieveVanessa R ByamsBrandi DupervilMeredith A OakleyConnie H MillerJ Michael SoucieKaron AbeChristopher J Bean, and W Craig Hooper Morbidity and mortality weekly report. Surveillance summaries (Washington, D.C. : 2002) 2020
32890584 Disability, Hospital Care, and Cost: Utilization of Emergency and Inpatient Care by a Cohort of Children with Intellectual and Developmental Disabilities. Scott Lindgren, Emily Lauer, Elizabeth Momany, Tara Cope, Julie Royer, Lindsay Cogan, Suzanne McDermott, and Brian S Armour The Journal of pediatrics  2020
32902617 A scoping review of social and behavioral science research to translate genomic discoveries into population health impact. Caitlin G Allen, Shenita Peterson, Muin J Khoury, Lawrence C Brody, and Colleen M McBride Translational behavioral medicine  2020
32915168 Infants with Congenital Disorders Identified Through Newborn Screening – United States, 2015-2017. Marci K Sontag, Careema Yusuf, Scott D Grosse, Sari Edelman, Joshua I Miller, Sarah McKasson, Yvonne Kellar-Guenther, Marcus GaffneyCynthia F HintonCarla Cuthbert, Sikha Singh, Jelili Ojodu, and Stuart K Shapira MMWR. Morbidity and mortality weekly report  2020
32922257 Exploring the Role of Chemokine Receptor 6 ( Ccr6 ) in the BXD Mouse Model of Gulf War Illness. Jun Gao, Fuyi Xu, Athena Starlard-Davenport, Diane B MillerJames P O’Callaghan, Byron C Jones, and Lu Lu Frontiers in neuroscience  2020
32941600 Using informatics to improve cancer surveillance. Wendy BlumenthalTemitope O AlimiSandra F JonesDavid E JonesJoseph D RogersVicki B Benard, and Lisa C Richardson Journal of the American Medical Informatics Association : JAMIA 2020
32942283 Implementing Cancer Genomics in State Health Agencies: Mapping Activities to an Implementation Science Outcome Framework. Ridgely Fisk GreenMarie T KumerowJuan L Rodriguez, Siobhan Addie, Sarah H Beachy, and Laura Senier Public health genomics 2020
32986729 Signatures of somatic mutations and gene expression from p16INK4A positive head and neck squamous cell carcinomas (HNSCC). Nabil F Saba, Ashok R Dinasarapu, Kelly R Magliocca, Bhakti Dwivedi, Sandra Seby, Zhaohui S Qin, Mihir Patel, Christopher C Griffith, Xu Wang, Mark El-Deiry, Conor Ernst Steuer, Jeanne Kowalski, Dong Moon Shin, Michael E Zwick, and Zhuo Georgia Chen PloS one  2020
33027284 Comparison of participant-collected nasal and staff-collected oropharyngeal specimens for human ribonuclease P detection with RT-PCR during a community-based study. Mitchell T Arnold, Jonathan L Temte, Shari K Barlow, Cristalyne J Bell, Maureen D Goss, Emily G Temte, Mary M Checovich, Erik Reisdorf, Samantha Scott, Kyley Guenther, Mary Wedig, Peter Shult, and Amra Uzicanin PloS one  2020
33065154 Biological effects of inhaled hydraulic fracturing sand dust. V. Pulmonary inflammatory, cytotoxic and oxidant effects. Tina M SagerJenny R RobertsChristina M UmbrightMark BargerMichael L KashonJeffrey S Fedan, and Pius Joseph Toxicology and applied pharmacology  2020
33073012 Benzene Derivatives from Ink Lead to False Positive Results in Neonatal Hyperphenylalaninemia Screening with Ninhydrin Fluorometric Method. Shuren Feng, Joanne Mei, Lu Yang, Ping Luo, Xiaonan Wang, Yuan Wang, Jingyi Yao, Lan Cui, Lei Pan, Zefang Wang, and Li Xin International journal of neonatal screening  2021
33116245 Multi-ancestry fine mapping of interferon lambda and the outcome of acute hepatitis C virus infection. Candelaria Vergara, Priya Duggal, Chloe L Thio, Ana Valencia, Thomas R O’ Brien, Rachel Latanich, Winston Timp, Eric O Johnson, Alex H Kral, Alessandra Mangia, James J Goedert, Valeria Piazzola, Shruti H Mehta, Gregory D Kirk, Marion G Peters, Sharyne M Donfield, Brian R Edlin, Michael P Busch, Graeme Alexander, Edward L Murphy, Arthur Y Kim, Georg M Lauer, Raymond T Chung, Matthew E Cramp, Andrea L Cox, Salim I Khakoo, Hugo R Rosen, Laurent Alric, Sarah J Wheelan, Genevieve L Wojcik, David L Thomas, and Margaret A Taub Genes and immunity  2020
33119581 The intersection of genomics and big data with public health: Opportunities for precision public health. Muin J KhouryGregory L ArmstrongRebecca E BunnellJuliana Cyril, and Michael F Iademarco PLoS medicine 2020
33176178 Telomeres in toxicology: Occupational health. Mohammad Shoeb, Helen C S Meier, and James M Antonini Pharmacology & therapeutics  2020
33197628 Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A GeT-RM Collaborative Project. Thomas W Prior, Pinar Bayrak-Toydemir, Ty C Lynnes, Rong Mao, James D Metcalf, Kasinathan Muralidharan, Aiko Iwata-Otsubo, Ha T Pham, Victoria M Pratt, Shumaila Qureshi, Deborah Requesens, Junqing Shen, Francesco Vetrini, and Lisa Kalman The Journal of molecular diagnostics : JMD 2020
33203758 The Role of the Gut Microbiome in Resisting Norovirus Infection as Revealed by a Human Challenge Study. N V Patin, A Peña-Gonzalez, J K Hatt, C Moe, A Kirby, and K T Konstantinidis mBio  2020
33274461 Subtype diagnosis of sporadic Creutzfeldt-Jakob disease with diffusion MRI. Alberto Bizzi, Riccardo Pascuzzo, Janis Blevins, Marco E M Moscatelli, Marina Grisoli, Raffaele Lodi, Fabio M Doniselli, Gianmarco Castelli, Mark L Cohen, Aymeric Stamm, Lawrence B Schonberger, Brian S Appleby, and Pierluigi Gambetti Annals of neurology 2020
33281187 Health and economic outcomes of newborn screening for infantile-onset Pompe disease. John S Richardson, Alex R Kemper, Scott D Grosse, Wendy K K Lam, Angela M Rose, Ayesha Ahmad, Achamyeleh Gebremariam, and Lisa A Prosser Genetics in medicine : official journal of the American College of Medical Genetics  2020
33314404 Genetic causes of haemophilia in women an girls. Connie H Miller, and Christopher J Bean Haemophilia : the official journal of the World Federation of Hemophilia 2020
33331636 Towards an SI-Traceable Reference Measurement System for Seven Serum Apolipoproteins Using Bottom-Up Quantitative Proteomics: Conceptual Approach Enabled by Cross-Disciplinary/Cross-Sector Collaboration. Christa M Cobbaert, Harald Althaus, Ilijana Begcevic Brkovic, Uta Ceglarek, Stefan Coassin, Vincent Delatour, Liesbet Deprez, Ioannis Dikaios, Julia Dittrich, Andrew N Hoofnagle, Gerhard M Kostner, Florian Kronenberg, Zsusanna Kuklenyik, Urban Prinzing, Hubert W Vesper, Ingrid Zegers, L Renee Ruhaak Clinical chemistry  2020
33374006 Decreased plasma rifapentine concentrations associated with AADAC single nucleotide polymorphism in adults with tuberculosis. Marc Weiner, Jon Gelfond, Teresa L Johnson-Pais, Melissa Engle, John L Johnson, William C WhitworthErin Bliven-Sizemore, Pheona Nsubuga, Susan E Dorman, Rada Savic, and Pharmacokinetics/Pharmacodynamics Group of Tuberculosis Trials Consortium The Journal of antimicrobial chemotherapy 2020
33445172 Challenges and Opportunities for Communication about the Role of Genomics in Public Health. Caitlin G Allen, Ridgely Fisk GreenScott BowenW David DotsonWei Yu, and Muin J Khoury Public health genomics 2021
33477152 Duchenne and Becker Muscular Dystrophies’ Prevalence in MD STARnet Surveillance Sites: An Examination of Racial and Ethnic Differences. Yanan Zhang, Joshua R Mann, Katherine A James, Suzanne McDermott, Kristin M Conway, Pangaja Paramsothy, Tiffany Smith, Bo Cai, and MD STARnet Neuroepidemiology 2021
33479058 The First Genome-Wide Association Study for Type 2 Diabetes in Youth: The Progress in Diabetes Genetics in Youth (ProDiGY) Consortium. Shylaja Srinivasan, Ling Chen, Jennifer Todd, Jasmin Divers, Samuel Gidding, Steven Chernausek, Rose A Gubitosi-Klug, Megan M Kelsey, Rachana Shah, Mary Helen Black, Lynne E Wagenknecht, Alisa Manning, Jason Flannick, Giuseppina Imperatore, Josep M Mercader, Dana Dabelea, Jose C Florez, and ProDiGY Consortium Diabetes 2021
33501947 Homotypic and Heterotypic Protection and Risk of Reinfection Following Natural Norovirus Infection in a Highly Endemic Setting. Preeti Chhabra, Saba Rouhani, Hannah Browne, Pablo Peñataro Yori, Mery Siguas Salas, Maribel Paredes Olortegui, Lawrence H Moulton, Margaret N Kosek, and Jan Vinjé Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2021
33502471 Evidence of SARS-CoV-2 Replication and Tropism in the Lungs, Airways and Vascular Endothelium of Patients with Fatal COVID-19: An Autopsy Case-Series. Julu BhatnagarJoy GarySarah Reagan-SteinerLindsey B EstetterSuxiang TongYing TaoAmy M DenisonElizabeth LeeMarlene Deleon-CarnesYan LiAnna UeharaClinton R PadenBrooke LeitgebTimothy M UyekiRoosecelis B MartinesJana M RitterChristopher D PaddockWun-Ju Shieh, and Sherif R Zaki The Journal of infectious diseases  2021
33510387 Mispair-bound human MutS-MutL complex triggers DNA incisions and activates mismatch repair. Janice Ortega, Grace Sanghee Lee, Liya Gu, Wei Yang, and Guo-Min Li Cell research  2021
33540650 Differential Expression of Serum Exosome microRNAs and Cytokines in Influenza A and B Patients Collected in the 2016 and 2017 Influenza Seasons. Sreekumar OthumpangatWilliam G LindsleyDonald H BeezholdMichael L Kashon, Carmen N Burrell, Samira Mubareka, and John D Noti Pathogens (Basel, Switzerland)  2021
33544838 Auto-antibodies to type I IFNs can underlie adverse reactions to yellow fever live attenuated vaccine. Paul Bastard, Eleftherios Michailidis, Hans-Heinrich Hoffmann, Marwa Chbihi, Tom Le Voyer, Jérémie Rosain, Quentin Philippot, Yoann Seeleuthner, Adrian Gervais, Marie Materna, Patricia Mouta Nunes de Oliveira, Maria de Lourdes S Maia, Ana Paula Dinis Ano Bom, Tamiris Azamor, Deborah Araújo da Conceição, Ekaterini Goudouris, Akira Homma, Günther Slesak, Johannes Schäfer, Bali Pulendran, Joseph D Miller, Ralph Huits, Rui Yang, Lindsey B Rosen, Lucy Bizien, Lazaro Lorenzo, Maya Chrabieh, Lucia V Erazo, Flore Rozenberg, Mohamed Maxime Jeljeli, Vivien Béziat, Steven M Holland, Aurélie Cobat, Luigi D Notarangelo, Helen C Su, Rafi Ahmed, Anne Puel, Shen-Ying Zhang, Laurent Abel, Stephen J Seligman, Qian Zhang, Margaret R MacDonald, Emmanuelle Jouanguy, Charles M Rice, and Jean-Laurent Casanova The Journal of experimental medicine  2021
33684136 Paternal genetic variants and risk of obstructive heart defects: A parent-of-origin approach. Jenil Patel, Emine Bircan, Xinyu Tang, Mohammed Orloff, Charlotte A Hobbs, Marilyn L Browne, Lorenzo D Botto, Richard H Finnell, Mary M Jenkins, Andrew Olshan, Paul A Romitti, Gary M Shaw, Martha M Werler, Jingyun Li, Wendy N Nembhard, and National Birth Defects Prevention Study PLoS genetics 2021
33692554 Improving reporting standards for polygenic scores in risk prediction studies. Hannah Wand, Samuel A Lambert, Cecelia Tamburro, Michael A Iacocca, Jack W O’Sullivan, Catherine Sillari, Iftikhar J Kullo, Robb Rowley, Jacqueline S Dron, Deanna Brockman, Eric Venner, Mark I McCarthy, Antonis C Antoniou, Douglas F Easton, Robert A Hegele, Amit V Khera, Nilanjan Chatterjee, Charles Kooperberg, Karen Edwards, Katherine Vlessis, Kim Kinnear, John N Danesh, Helen Parkinson, Erin M Ramos, Megan C Roberts, Kelly E Ormond, Muin J Khoury, A Cecile J W Janssens, Katrina A B Goddard, Peter Kraft, Jaqueline A L MacArthur, Michael Inouye, and Genevieve L Wojcik Nature  2021
33692799 Differential miRNA Profiles Correlate With Disparate Immunity Outcomes Associated With Vaccine Immunization and Chlamydial Infection. Simone Howard, Shakyra Richardson, Ifeyinwa Benyeogor, Yusuf Omosun, Kamran Dye, Fnu Medhavi, Stephanie Lundy, Olayinka Adebayo, Joseph U Igietseme, and Francis O Eko Frontiers in immunology  2021
33719727 Regional Consortia : A Framework for Public Health Laboratory Collaboration and Service Sharing. Renée M Ned-Sykes, Michael Pentella, Lorelei Kurimski, Susanne Zanto, E Matt Charles, Christine Bean, Deborah Gibson, Karen Breckenridge, Bertina Su, and John Ridderhof Public health reports (Washington, D.C. : 1974) 2021
33734618 Survival of infants born with esophageal atresia among 24 international birth defects surveillance programs. Jane C Bell, Gareth Baynam, Jorieke E H Bergman, Eva Bermejo-Sánchez, Lorenzo D Botto, Mark A Canfield, Saeed Dastgiri, Miriam Gatt, Boris Groisman, Paula Hurtado-Villa, Karin Kallen, Babak Khoshnood, Victoria Konrad, Danielle Landau, Jorge S Lopez-Camelo, Laura Martinez, Margery Morgan, Osvaldo M Mutchinick, Amy E Nance, Wendy Nembhard, Anna Pierini, Anke Rißmann, Xiaoyi Shan, Antonin Sipek, Elena Szabova, Giovanna Tagliabue, Lyubov S Yevtushok, Ignacio Zarante, and Natasha Nassar Birth defects research  2021
33780098 Occurrence rates of von Willebrand disease among people receiving care in specialized treatment centres in the United States. John Michael Soucie, Connie H Miller, Vanessa R ByamsAmanda B PayneKaron Abe, Robert F Sidonio, and Peter A Kouides Haemophilia : the official journal of the World Federation of Hemophilia 2021
33790422 From genes to public health: are we ready for DNA-based population screening? Muin J Khoury, and W David Dotson Genetics in medicine : official journal of the American College of Medical Genetics  2021
33794901 Cord blood acrylamide levels and birth size, and interactions with genetic variants in acrylamide-metabolising genes. Janneke Hogervorst, Hubert W Vesper, Narjes Madhloum, Wilfried Gyselaers, and Tim Nawrot Environmental health : a global access science source  2021
33853081 Development of an Implementation Framework for Overcoming Underdiagnoses of Familial Hypercholesterolemia in the USA. Dana M Miller, Amy Gaviglio, and Heather A Zierhut Public health genomics 2021
33863318 Analysis of single nucleotide polymorphisms in chronic beryllium disease. Björn C Frye, Karoline I Gaede, Cesare Saltini, Milton D Rossman, Dimitri S Monos, Ken D Rosenman, Christine R SchulerAinsley Weston, Ralf Wegner, Rainer Noth, Gernot Zissel, Stefan Schreiber, Michael Nothnagel, and Joachim Müller-Quernheim Respiratory research  2021
33877293 Characteristics, complications, and sites of bleeding among infants and toddlers less than 2 years of age with VWD. Brandi DupervilKaron Abe, Sarah H O’Brien, Meredith Oakley, Roshni Kulkarni, Courtney D Thornburg, Vanessa R Byams, and J Michael Soucie Blood advances  2021
33892793 The impact of genomics on precision public health: beyond the pandemic. Muin J Khoury, and Kathryn E Holt Genome medicine 2021
33906930 Explaining Sudden Unexpected Infant Deaths, 2011-2017. Sharyn E Parks, Alexa B Erck Lambert, Fern R Hauck, Carri R Cottengim, Meghan Faulkner, and Carrie K Shapiro-Mendoza Pediatrics  2021
33947273 Epidemiology of Chronic Effects of Traumatic Brain Injury. Juliet Haarbauer-Krupa, Mary Jo Pugh, Eric M Prager, Nicole Harmon, Jessica Wolfe, and Kristine C Yaffe Journal of neurotrauma  2021
33947773 Prevalent, protective, and convergent IgG recognition of SARS-CoV-2 non-RBD spike epitopes. William N Voss, Yixuan J Hou, Nicole V Johnson, George Delidakis, Jin Eyun Kim, Kamyab Javanmardi, Andrew P Horton, Foteini Bartzoka, Chelsea J Paresi, Yuri Tanno, Chia-Wei Chou, Shawn A Abbasi, Whitney Pickens, Katia George, Daniel R Boutz, Dalton M Towers, Jonathan R McDaniel, Daniel Billick, Jule Goike, Lori Rowe, Dhwani Batra, Jan PohlJustin LeeShivaprakash GangappaSuryaprakash Sambhara, Michelle Gadush, Nianshuang Wang, Maria D Person, Brent L Iverson, Jimmy D Gollihar, John Dye, Andrew Herbert, Ilya J Finkelstein, Ralph S Baric, Jason S McLellan, George Georgiou, Jason J Lavinder, and Gregory C Ippolito Science (New York, N.Y.)  2021
33949803 Global birth defects app: An innovative tool for describing and coding congenital anomalies at birth in low resource settings. Helen Dolk, Aminkeng Zawuo Leke, Phil Whitfield, Rebecca Moore, Katy Karnell, Ingeborg Barišic, Linda Barlow-Mosha, Lorenzo D Botto, Ester Garne, Pilar Guatibonza, Shana Godfred-Cato, Christine M Halleux, Lewis B Holmes, Cynthia A Moore, Ieda Orioli, Neena Raina, and Diana Valencia Birth defects research  2021
34020041 Characterization of Reference Materials for CYP2C9, CYP2C19, VKORC1, CYP2C Cluster Variant, GGCX, and Other Pharmacogenetic Alleles with an Association for Molecular Pathology (AMP) Pharmacogenetics Working Group Tier 2 Status – A GeT-RM Collaborative Project. Victoria M Pratt, Amy Turner, Ulrich Broeckel, D Brian Dawson, Andrea Gaedigk, Ty C Lynnes, Elizabeth B Medeiros, Ann M Moyer, Deborah Requesens, Francesco Ventrini, and Lisa V Kalman The Journal of molecular diagnostics : JMD  2021
34113006 Cost or price of sequencing? Implications for economic evaluations in genomic medicine. Scott D Grosse, and James M Gudgeon Genetics in medicine : official journal of the American College of Medical Genetics 2021
34129046 Secretor status strongly influences the incidence of symptomatic norovirus infection in a genotype-dependent manner in a Nicaraguan birth cohort. Yaoska Reyes, Fredman González, Lester Gutierrez, Patricia Blandon, Edwing Centeno, Omar Zepeda, Christian Toval-Ruíz, Lisa C Lindesmith, Ralph S Baric, Nadja Vielot, Marta Diez-Valcarce, Jan Vinjé, Lennart Svensson, Sylvia Becker-Dreps, Johan Nordgren, and Filemón Bucardo The Journal of infectious diseases  2021
34130605 Managing biological variation data: modern approaches for study design and clinical application. Paul R Johnson, Shahram Shahangian, and J Rex Astles Critical reviews in clinical laboratory sciences  2021
34140396 Comprehensive Search for Novel Circulating miRNAs and Axon Guidance Pathway Proteins Associated with Risk of End Stage Kidney Disease in Diabetes. Eiichiro Satake, Pierre-Jean Saulnier, Hiroki Kobayashi, Manoj Gupta, Helen Looker, Jonathan Wilson, Zaipul Md Dom, Katsuhito Ihara, Kristina O’Neil, Bozena Krolewski, Caterina Pipino, Meda Pavkov, Viji Nair, Markus Bitzer, Monika Niewczas, Matthias Kretzler, Michael Mauer, Alessandro Doria, Behzad Najafian, Rohit Kulkarni, Kevin Duffin, Marcus Pezzolesi, C Ronald Kahn, Robert Nelson, and Andrzej Krolewski Journal of the American Society of Nephrology : JASN 2021
34248484 Examining Individual and Synergistic Contributions of PTSD and Genetics to Blood Pressure: A Trans-Ethnic Meta-Analysis. Jennifer A Sumner, Adam X Maihofer, Vasiliki Michopoulos, Alex O Rothbaum, Lynn M Almli, Ole A Andreassen, Allison E Ashley-Koch, Dewleen G Baker, Jean C Beckham, Bekh Bradley, Gerome Breen, Jonathan R I Coleman, Anders M Dale, Michelle F Dennis, Norah C Feeny, Carol E Franz, Melanie E Garrett, Charles F Gillespie, Guia Guffanti, Michael A Hauser, Sian M J Hemmings, Tanja Jovanovic, Nathan A Kimbrel, William S Kremen, Bruce R Lawford, Mark W Logue, Adriana Lori, Michael J Lyons, Jessica Maples-Keller, Matig R Mavissakalian, Regina E McGlinchey, Divya Mehta, Rebecca Mellor, William Milberg, Mark W Miller, Charles Phillip Morris, Matthew S Panizzon, Kerry J Ressler, Victoria B Risbrough, Barbara O Rothbaum, Peter Roy-Byrne, Soraya Seedat, Alicia K Smith, Jennifer S Stevens, Leigh Luella van den Heuvel, Joanne Voisey, Ross McD Young, Lori A Zoellner, Caroline M Nievergelt, and Erika J Wolf Frontiers in neuroscience 2021
34299277 Identification of Prognostic and Chemopredictive microRNAs for Non-Small-Cell Lung Cancer by Integrating SEER-Medicare Data. Qing Ye, Joseph Putila, Rebecca Raese, Chunlin Dong, Yong Qian, Afshin Dowlati, and Nancy Lan Guo International journal of molecular sciences 2021
34355505 Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children. Georgia Pitsava, Marcia L Feldkamp, Nathan Pankratz, John Lane, Denise M Kay, Kristin M Conway, Gary M Shaw, Jennita ReefhuisMary M JenkinsLynn M Almli, Andrew F Olshan, Faith Pangilinan, Lawrence C Brody, Robert J Sicko, Charlotte A Hobbs, Mike Bamshad, Daniel McGoldrick, Deborah A Nickerson, Richard H Finnell, James Mullikin, Paul A Romitti, James L Mills, and University of Washington Center for Mendelian Genomics, NISC Comparative Sequencing Program and the National Birth Defects Prevention Study American journal of medical genetics. Part A 2 2021
34384894 Creation of an Expert Curated Variant List for Clinical Genomic Test Development and Validation: A ClinGen and GeT-RM Collaborative Project. Emma Wilcox, Steven M Harrison, Edward Lockhart, Karl Voelkerding, Ira M Lubin, , Heidi L RehmLisa Kalman, and Birgit Funke The Journal of molecular diagnostics : JMD 2021
34453948 Boston biorepository, recruitment and integrative network (BBRAIN): A resource for the Gulf War Illness scientific community. D Keating, C G Zundel, M Abreu, M Krengel, K Aenlle, D Nichols, R Toomey, L L Chao, J Golier, L Abdullah, E Quinn, T Heeren, J R Groh, B B Koo, R Killiany, M L Loggia, J Younger, J Baraniuk, P Janulewicz, J Ajama, M Quay, P W Baas, L Qiang, L Conboy, E Kokkotou, J P O’Callaghan, L Steele, N Klimas, and K Sullivan Life sciences  2021
34474067 Systemic toxicity induced by topical application of heptafluorobutyric acid (PFBA) in a murine model. Lisa M WeatherlyHillary L ShaneEwa LukomskaRachel Baur, and Stacey E Anderson Food and chemical toxicology : an international journal published for the British Industrial Biological Research Association  2021
34497065 Sporadic Creutzfeldt-Jakob Disease in a Very Young Person. Brian Stephen Appleby, Ryan MaddoxLawrence B Schonberger, Ignazio Cali, Teresa Hammett, Mark Cohen, and Ermias Belay Neurology  20
34508749 Maternal Smoking and Congenital Heart Defects, National Birth Defects Prevention Study, 1997-2011. Elijah H Bolin, Yevgeniya Gokun, Paul A Romitti, Sarah C TinkerApril D Summers, Paula K Roberson, Charlotte A Hobbs, Sadia Malik, Lorenzo D Botto, Wendy N Nembhard, and National Birth Defects Prevention Study The Journal of pediatrics  2021
34523531 Pregnancy exposure to synthetic phenols and placental DNA methylation – An epigenome-wide association study in male infants from the EDEN cohort. Paulina Jedynak, Jörg Tost, Antonia M Calafat, Ekaterina Bourova-Flin, Florence Busato, Anne Forhan, Barbara Heude, Milan Jakobi, Sophie Rousseaux, Joel Schwartz, Rémy Slama, Daniel Vaiman, Claire Philippat, and Johanna Lepeule Environmental pollution (Barking, Essex : 1987) 2021
34544849 Half Century Since SIDS: A Reappraisal of Terminology. Carrie K Shapiro-Mendoza, Vincent J Palusci, Benjamin Hoffman, Erich Batra, Marc Yester, Tracey S Corey, Mary Ann Sens, and AAP Task Force On Sudden Infant Death Syndrome, Council On Child Abuse And Neglect, Council On Injury, Violence, And Poison Prevention, Section On Child Death Review And Prevention, National Association Of Medical Examiners Pediatrics  2021
34775608 An update on the US adult thalassaemia population: a report from the CDC thalassaemia treatment centres. John Chapin, Alan R Cohen, Ellis J Neufeld, Elliott Vichinsky, Patricia J Giardina, Jeanne Boudreaux, Binh C LeKristy KenneySean Trimble, and Alexis A Thompson British journal of haematology  2021
Posted on by Mindy Clyne, W. David Dotson, Anja Wulf, Muin J. Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, Georgia
Page last reviewed: April 9, 2024
Page last updated: April 9, 2024