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Public Health Genomics and Precision Health Knowledge Base (v10.0)
PHGKB
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Public Health Genomics Branch
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CDC-Authored Genomics and Precision Health Publications Database|Home|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
CDC-Authored Genomics and Precision Health Publications Database
Last data update: Dec 02, 2024
. (Total: 6432 publications)
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Records 1-30 (of 92 Records)
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Genetic testing[original query]
Characterization of reference materials for DPYD: A GeT-RM collaborative project
Gaedigk A , Turner AJ , Moyer AM , Zubiaur P , Boone EC , Wang WY , Broeckel U ,
Kalman LV
.
J Mol Diagn 2024
Information needs persist after genetic counseling and testing for BRCA1/2 and Lynch Syndrome
Peipins LA
,
Dasari S , Viox MH ,
Rodriguez JL
.
Breast Cancer Res Treat 2024
Population-based study of rare epilepsy incidence in a US urban population
Barbour K ,
Tian N
,
Yozawitz EG , Wolf S , McGoldrick PE , Sands TT , Nelson A , Basma N , Grinspan ZM .
Epilepsia 2024
Genetics and genomics for the prevention and treatment of cardiovascular disease: update: a scientific statement from the American Heart Association.
Ganesh SK , Arnett DK , Assimes TL , Basson CT , Chakravarti A , Ellinor PT , Engler MB , Goldmuntz E , Herrington DM , Hershberger RE ,
Hong Y
,
Johnson JA , Kittner SJ , McDermott DA , Meschia JF , Mestroni L , O'Donnell CJ , Psaty BM , Vasan RS , Ruel M , Shen WK , Terzic A , Waldman SA .
Circulation 2013 128 (25) 2813-51
Predictive genetic testing for the identification of high-risk groups: a simulation study on the impact of predictive ability.
Mihaescu R ,
Moonesinghe R
,
Khoury MJ
,
Janssens AC .
Genome Med 2011 3 (7) 51
Characterization of reference materials for CYP3A4 and CYP3A5: A genetic testing reference material coordination program collaborative project
Gaedigk A , Boone EC , Turner AJ , van Schaik RHN , Chernova D , Wang WY , Broeckel U , Granfield CA , Hodge JC , Ly RC , Lynnes TC , Mitchell MW , Moyer AM , Oliva J ,
Kalman LV
.
J Mol Diagn 2023 25 (9) 655-664
Diagnostic yield of genetic screening in a diverse, community-ascertained cohort.
Rao Nandana D, Kaganovsky Jailanie, Malouf Emily A, Coe Sandy, Huey Jennifer, Tsinajinne Darwin, Hassan Sajida, King Kristine M, Fullerton Stephanie M, Chen Annie T, Shirts Brian H. Genome medicine 2023 15(1) 26 .
Genome medicine 2023 15(1) 26
Characterization of Reference Materials for TPMT and NUDT15 - A GeT-RM Collaborative Project.
Pratt VM , Wang WY , Boone EC , Broeckel U , Cody N , Edleman L , Gaedigk A , Lynnes TC , Medeiros E , Moyer AM , Mitchell MM , Scott SA , Starostik P , Turner A ,
Kalman LV
.
J Mol Diagn 2022 24 (10) 1079-1088
Addressing the routine failure to clinically identify monogenic cases of common disease.
Murray MF ,
Khoury MJ
,
Abul-Husn NS .
Genome Med 2022 14 (1) 60
CYP2C8, CYP2C9 and CYP2C19 characterization using Next Generation Sequencing and Haplotype Analysis: A GeT-RM Collaborative Project.
Gaedigk A , Boone EC , Scherer SE , Lee SB , Numanagi I , Sahinalp C , Smith JD , McGee S , Radhakrishnan A , Qin X , Wang WY , Farrow EG , Gonzaludo N , Halpern AL , Nickerson DA , Miller NA , Pratt VM ,
Kalman LV
.
J Mol Diagn 2022 24 (4) 337-350
Creation of an Expert Curated Variant List for Clinical Genomic Test Development and Validation: A ClinGen and GeT-RM Collaborative Project.
Wilcox E , Harrison SM ,
Lockhart E
,
Voelkerding K ,
Lubin IM
,
Rehm HL
,
Kalman L
,
Funke B .
J Mol Diagn 2021 23 (11) 1500-1505
Cost or price of sequencing? Implications for economic evaluations in genomic medicine.
Grosse SD
,
Gudgeon JM .
Genet Med 2021 23 (10) 1833-1835
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.
Pratt VM , Turner A , Broeckel U , Dawson DB , Gaedigk A , Lynnes TC , Medeiros EB , Moyer AM , Requesens D , Ventrini F ,
Kalman LV
.
J Mol Diagn 2021 23 (8) 952-958
Development of an Implementation Framework for Overcoming Underdiagnoses of Familial Hypercholesterolemia in the USA.
Miller DM ,
Gaviglio A
,
Zierhut HA .
Public Health Genomics 2021 24 1-13
Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A GeT-RM Collaborative Project.
Prior TW , Bayrak-Toydemir P , Lynnes TC , Mao R , Metcalf JD , Muralidharan K , Iwata-Otsubo A , Pham HT , Pratt VM , Qureshi S , Requesens D , Shen J , Vetrini F ,
Kalman L
.
J Mol Diagn 2020 23 (1) 103-110
Artemether-Lumefantrine Efficacy for the Treatment of Uncomplicated Plasmodium falciparum Infection in Choco, Colombia after 8 Years as First-Line Treatment.
Olivera MJ , Guerra AP , Cortes LJ ,
Horth RZ
,
Padilla J , Novoa J , Ade MP ,
Ljolje D
,
Lucchi NW
,
Marquino W , Renteria M , Yurgaky W ,
Macedo de Oliveira A
.
Am J Trop Med Hyg 2020 102 (5) 1056-1063
Challenges and opportunities for integrating genetic testing into a diagnostic workflow: heritable long QT syndrome as a model.
Lubin IM
,
Lockhart ER
,
Frank J , See VY , Vashist S , Greene C .
Diagnosis (Berl) 2019 8 (1) 17-26
Emerging Concepts in Precision Medicine and Cardiovascular Diseases in Racial and Ethnic Minority Populations.
Mensah GA , Jaquish C , Srinivas P , Papanicolaou GJ , Wei GS , Redmond N , Roberts MC , Nelson C , Aviles-Santa L , Puggal M , Green Parker MC , Minear MA , Barfield W , Fenton KN , Boyce CA , Engelgau MM ,
Khoury MJ
.
Circ Res 2019 125 (1) 7-13
Hepatitis C Virus Potentially Transmitted by Opioid Drug Diversion from a Nurse - Washington, August 2017-March 2018.
Njuguna HN
,
Stinson D , Montgomery P , Turner N , D'Angeli M , Carr J , Podczervinski S , Wasserman C ,
Ramachandran S
,
Lucas T
,
Bixler D
,
Perkins K
,
Benowitz I
,
Moorman A
.
MMWR Morb Mortal Wkly Rep 2019 68 (16) 374-376
Current Social Media Conversations about Genetics and Genomics in Health: A Twitter-Based Analysis.
Allen CG , Andersen B ,
Khoury MJ
,
Roberts MC .
Public Health Genomics 2018 21 1-7
Characterization of 108 Genomic DNA Reference Materials for 11 Human Leukocyte Antigen (HLA) Loci: A GeT-RM Collaborative Project.
Bettinotti MP , Ferriola D , Duke JL , Mosbruger TL , Tairis N , Jennings L ,
Kalman LV
,
Monos D .
J Mol Diagn 2018 20 (5) 703-715
Is universal tumor testing for Lynch syndrome cost-effective? It depends!
Grosse SD
.
Genet Med 2018 21 (1) 252-253
Communication of cancer-related genetic and genomic information: A landscape analysis of reviews.
Peterson EB , Chou WS , Gaysynsky A , Krakow M , Elrick A ,
Khoury MJ
,
Kaphingst KA .
Transl Behav Med 2018 8 (1) 59-70
The current state of funded NIH grants in implementation science in genomic medicine: a portfolio analysis.
Roberts MC , Clyne M , Kennedy AE , Chambers DA ,
Khoury MJ
.
Genet Med 2017 21 (5) 1218-1223
Trends in utilization and costs of BRCA testing among women aged 18-64 years in the United States, 2003-2014.
Chen Z
,
Kolor K
,
Grosse SD
,
Rodriguez JL
,
Lynch JA ,
Green RF
,
Dotson WD
,
Bowen MS
,
Khoury MJ
.
Genet Med 2017 20 (4) 428-434
BRCA Genetic Testing and Receipt of Preventive Interventions Among Women Aged 18-64 Years with Employer-Sponsored Health Insurance in Nonmetropolitan and Metropolitan Areas - United States, 2009-2014.
Kolor K
,
Chen Z
,
Grosse SD
,
Rodriguez JL
,
Green RF
,
Dotson WD
,
Bowen MS
,
Lynch JA ,
Khoury MJ
.
MMWR Surveill Summ 2017 66 (15) 1-11
Cascade Screening for Familial Hypercholesterolemia and the Use of Genetic Testing.
Knowles JW , Rader DJ ,
Khoury MJ
.
JAMA 2017 318 (4) 381-382
No Shortcuts on the Long Road to Evidence-Based Genomic Medicine.
Khoury MJ
.
JAMA 2017 318 (1) 27-28
The Sudden Death in the Young Case Registry: Collaborating to Understand and Reduce Mortality.
Burns KM , Bienemann L ,
Camperlengo L
,
Cottengim C
,
Covington TM , Dykstra H , Faulkner M , Kobau R , Erck Lambert AB , MacLeod H , Parks SE , Rosenberg E , Russell MW ,
Shapiro-Mendoza CK
,
Shaw E ,
Tian N
,
Whittemore V , Kaltman JR .
Pediatrics 2017 139 (3)
Familial Creutzfeldt-Jakob Disease Cluster Among an African American Family.
Johnson MG
,
Bradley KK , Coffman RL ,
Belay ED
.
J Public Health Manag Pract 2016 23 (6) 614-617
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Page last reviewed:
Feb 1, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
,
National Center on Birth Defects and Developmental Disabilities
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