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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Last data update: Apr 25, 2024
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Down Syndrome in a New Era for Alzheimer Disease.
Michael S Rafii et al. JAMA 2023
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Indications, types, and diagnostic implications of prenatal genetic testing in Sub-Saharan Africa: A descriptive study.
Abraham Fessehaye Sium et al. PLoS One 2023 18(11) e0294409
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The effect of a prior e-learning tool on genetic counseling outcomes in diverse ethnic couples with abnormal Down syndrome screening tests: A randomized controlled trial.
Olfat Aboleil-Zoubi et al. J Genet Couns 2023
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Non-Invasive Prenatal Testing (NIPT): Reliability, Challenges, and Future Directions.
Siva Shantini Jayashankar et al. Diagnostics (Basel) 2023 13(15)
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Medicaid Enrollment and Service Use Among Adults With Down Syndrome.
Eric Rubenstein et al. JAMA Health Forum 2023 4(8) e232320
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Management of Down Syndrome-Associated Leukemias: A Review.
Anupam Verma et al. JAMA Oncol 2023
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Views on the impact of the COVID-19 pandemic on health in people with Down syndrome from diverse backgrounds.
Stephanie L Santoro et al. Am J Med Genet A 2023
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Evaluation of pre-test counselling offered for non-invasive prenatal testing (NIPT) as a primary screening tool.
Ho Yin Diana Lee et al. J Obstet Gynaecol 2023 43(1) 2204959
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Never "totally prepared": Support groups on helping families prepare for a child with a genetic condition.
Kaitlynn P Craig et al. J Community Genet 2023 1-9
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"Overestimated technology - underestimated consequences" - reflections on risks, ethical conflicts, and social disparities in the handling of non-invasive prenatal tests (NIPTs).
Marion Baldus et al. Medicine, health care, and philosophy 2023
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Down syndrome screening and diagnosis practices in Europe, United States, Australia, and New Zealand from 1990-2021.
Henry C Wilmot et al. European journal of human genetics : EJHG 2023
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Co-occurring conditions in children with Down syndrome and autism: a retrospective study.
Noemi A Spinazzi et al. Journal of neurodevelopmental disorders 2023 15(1) 9
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Assessment of Cancer Predisposition Syndromes in a National Cohort of Children With a Neoplasm.
Jette J Bakhuizen et al. JAMA network open 2023 6(2) e2254157
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Willingness to Pay for Down Syndrome Screening: A systematics Review.
Shima Nikjoo et al. Medical journal of the Islamic Republic of Iran 2023 36149
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Designing an international survey for organisations serving people with Down syndrome.
Kats Daniel J et al. Journal of applied research in intellectual disabilities : JARID 2023
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Indicators of health in Down syndrome: A virtual focus group study with patients and their parents.
Santoro Stephanie L et al. Journal of applied research in intellectual disabilities : JARID 2023
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A decade of non-invasive prenatal screening in Australia: National impact on prenatal screening and diagnostic testing.
Hui Lisa et al. The Australian & New Zealand journal of obstetrics & gynaecology 2022
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Comparison of amyloid burden in individuals with Down syndrome versus autosomal dominant Alzheimer's disease: a cross-sectional study.
Boerwinkle Anna H et al. The Lancet. Neurology 2022 22(1) 55-65
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Cell-Free Fetal Deoxyribonucleic Acid (cffDNA) Analysis as a Remarkable Method of Non-Invasive Prenatal Screening.
Raj Himanshu et al. Cureus 2022 14(10) e29965
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Cytogenetic status of patients with congenital malformations or suspected chromosomal abnormalities in Turkey: a comprehensive cytogenetic survey of 11,420 patients.
Demirhan Osman et al. Chromosoma 2022
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Assessing co-occurring mental health conditions in a multidisciplinary Down syndrome clinic and the role of family history.
Raffaele Gabriella et al. American journal of medical genetics. Part A 2022
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Karyotype patterns, clinical features, and parental ages of three predominant live born autosomal trisomies of Northeast Malaysia.
Ankathil R et al. The Malaysian journal of pathology 2022 44(2) 235-244
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Views on disability and prenatal testing among families with Down syndrome and disability activists: A comparative analysis of interviews from Germany and Israel.
Nov-Klaiman Tamar et al. Social science & medicine (1982) 2022 303115021
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Health economic evaluation of noninvasive prenatal testing and serum screening for down syndrome.
Xiao Gefei et al. PloS one 2022 17(4) e0266718
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Endocrinal dysfunction in children with Down syndrome.
Metwalley Kotb Abbass et al. Annals of pediatric endocrinology & metabolism 2022 27(1) 15-21
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Increased referrals for congenital hyperinsulinism genetic testing in children with trisomy 21 reflects the high burden of non-genetic risk factors in this group.
Hewat Thomas I et al. Pediatric diabetes 2022
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The good, the bad, and the utilitarian: attitudes towards genetic testing and implications for disability.
Maftei Alexandra et al. Current psychology (New Brunswick, N.J.) 2022 1-22
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Development of an effective immune response in adults with Down Syndrome after SARS-CoV-2 vaccination
LE Pinedo et al, MEDRXIV, January 16, 2022
CAA and related co-morbidities in Down syndrome and Alzheimer disease.
Kumar Amisha et al. Alzheimer's & dementia : the journal of the Alzheimer's Association 2021 17 Suppl 2e058726
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Cost of providing cell-free DNA screening for Down syndrome in Finland using different strategies.
Cuckle Howard et al. Journal of perinatal medicine 2021
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 25, 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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