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Public Health Genomics and Precision Health Knowledge Base (v9.0)
PHGKB
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Last data update: May 02, 2024
. (Total: 63767 Documents since 2012)
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Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders.
Alexandra Santana Almansa et al. Ann Clin Transl Neurol 2024
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Parental request for familial carrier testing in early childhood: The genetic counseling perspective.
Sabrina V Southwick et al. Clin Genet 2023
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Performance of single-gene noninvasive prenatal testing for autosomal recessive conditions in a general population setting.
Julia Wynn et al. Prenat Diagn 2023
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The completion of indicated paternal prenatal genetic and carrier testing at a public hospital in Los Angeles, California
MT Nguyen et al, Genet in Med Open, September 2023
Multilevel barriers and facilitators to widespread use of preconception carrier screening in the United States
LE Hull et al, Genetics in Medicine, July 30, 2023
Implementing preconception expanded carrier screening in a universal healthcare system: a model-based cost-effectiveness analysis
A Busnelli et al, Genet Med, July 2023
Consanguineous couples’ experiences and views regarding expanded carrier screening: Barriers and facilitators in the decision-making process
S van der Hout et al, EJHG, June 6, 2023
Human Genetics Society of Australasia Position Statement: Genetic Carrier Testing for Recessive Conditions.
Danya F Vears et al. Twin Res Hum Genet 2023 1-7
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Barriers to Completion of Expanded Carrier Screening in an Inner City Population.
Tirtza S Strauss et al. Genet Med 100858
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Economic evaluation of population-based expanded reproductive carrier screening for genetic diseases in Australia
D Schofield et al, Genetics in Medicine, February 12, 2023
Community Genetics screening in a pandemic: solutions for pre-test education, informed consent, and specimen collection.
Terrill Bronwyn et al. European journal of human genetics : EJHG 2023 1-5
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Couple screening for recessively inherited disorders.
Sisterna Silvina et al. Journal of medical screening 2022 9691413221137039
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Genetic Counsellors play a key role in supporting ethically responsible expanded universal carrier screening
L Dive et al, EJHG, November 7, 2022
Psychosocial Issues Related to Newborn Screening: A Systematic Review and Synthesis.
Tluczek Audrey et al. International journal of neonatal screening 2022 8(4)
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Societal implications of expanded universal carrier screening: a scoping review
LM van der Heuvel el a, EJHG, September 12, 2022
Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care.
Armstrong Niki et al. American journal of medical genetics. Part C, Seminars in medical genetics 2022
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Allele-specific and multiplex PCR based tools for cost-effective and comprehensive genetic testing in Congenital Adrenal Hyperplasia.
Ravichandran Lavanya et al. MethodsX 2022 9101748
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Incorporating patient perspectives in the development of a core outcome set for reproductive genetic carrier screening: a sequential systematic review
E Richardson et al, EJHG, March 28, 2022
[Increased use of genetic health care in Iceland 2012-2017].
Hognason Hakon Bjorn et al. Laeknabladid 2021 108(1) 11-16
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Evaluating the model of offering expanded genetic carrier screening to high school students within the Sydney Jewish community.
Barlow-Stewart Kristine et al. Journal of community genetics 2021
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Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease.
Hussein Norita et al. The Cochrane database of systematic reviews 2021 10CD010849
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Ethical considerations in gene selection for reproductive carrier screening.
Dive Lisa et al. Human genetics 2021
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ACMG Carrier Screening Guidelines: Falling Short On Equity and Inclusion
K Stoll et a, The DNA Exchange, July 2021
Beyond the "Jewish panel": the importance of offering expanded carrier screening to the Ashkenazi Jewish population.
Dolitsky Shelley et al. F&S reports 2021 1(3) 294-298
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Newborn screening for cystic fibrosis: Role of primary care providers in caring for infants with positive screening results.
Carroll June C et al. Canadian family physician Medecin de famille canadien 2021 67(6) e144-e152
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Cascade screening for beta-thalassemia in Pakistan: development, feasibility and acceptability of a decision support intervention for relatives.
Ahmed Shenaz et al. European journal of human genetics : EJHG 2021
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Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.
Sallevelt Suzanne C E H et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021
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First French study relative to preconception genetic testing: 1500 general population participants' opinion.
Bonneau Valérie et al. Orphanet journal of rare diseases 2021 16(1) 130
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A single NGS based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing.
Nallamilli Babi R R et al. Human mutation 2021
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Discordant Patient and Clinician Perspectives on the Potential Value of Genetic Services in Safety-Net Clinics.
McMullen Carmit et al. Journal of health care for the poor and underserved 2020 31(3) 1347-1363
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 02, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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