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Public Health Genomics and Precision Health Knowledge Base (v9.0)
PHGKB
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Precision Health Database
Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Last data update: Apr 30, 2024
. (Total: 63724 Documents since 2012)
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Clinical outcomes of screen-positive genome-wide cfDNA cases for trisomy 20: results from the global expanded NIPT Consortium.
Erica Soster et al. Mol Cytogenet 2024 17(1) 9
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Associations between genomic aberrations, increased nuchal translucency, and pregnancy outcomes: a comprehensive analysis of 2,272 singleton pregnancies in women under 35.
Jia Huang et al. Front Med (Lausanne) 2024 111376319
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Expanding Access to Noninvasive Prenatal Diagnosis for Monogenic Conditions to Consanguineous Families.
Britt Hanson et al. Clin Chem 2024
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Accepting or declining preconception expanded carrier screening: An exploratory study with 407 couples.
Ariane J A G Van Tongerloo et al. J Genet Couns 2024
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Clinical application value of pre-pregnancy carrier screening in Chinese Han childbearing population.
Li Tan et al. Mol Genet Genomic Med 2024 12(4) e2425
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Pregnancy advances your 'biological' age - but giving birth turns it back.
Saima Sidik et al. Nature 2024
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'Something that helped the whole picture': Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service.
Hannah McInnes-Dean et al. Prenat Diagn 2024
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Estimation of carrier frequencies utilizing the gnomAD database for ACMG recommended carrier screening and Finnish disease heritage conditions in non-Finnish European, Finnish, and Ashkenazi Jewish populations.
Miska Kandolin et al. Am J Med Genet A 2024 e63588
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Performance of cell-free DNA testing for common fetal trisomies in triplet pregnancies.
Hoda Zakaria et al. Prenat Diagn 2024
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What importance do donors and recipients attribute to the nuclear DNA-related genetic heritage of oocyte donation?
A Mayeur et al. Hum Reprod 2024
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Perceptions and preferences for genetic testing for sickle cell disease or trait: a qualitative study in Cameroon, Ghana and Tanzania.
Nchangwi Syntia Munung et al. Eur J Hum Genet 2024
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ECFS standards of care on CFTR-related disorders: Towards a comprehensive program for affected individuals.
E De Wachter et al. J Cyst Fibros 2024
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Recruiting and retaining nulliparous individuals with a family history of hypertensive disorders of pregnancy to participate in scientific research prior to pregnancy: The Sisterhood Study.
Natalie A Cameron et al. Am Heart J Plus 2024 34
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The detection efficacy of noninvasive prenatal genetic testing (NIPT) for sex chromosome abnormalities and copy number variation and its differentiation in pregnant women of different ages.
Yimei Li et al. Heliyon 2024 10(2) e24155
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Clinical evaluation of noninvasive prenatal testing for sex chromosome aneuploidies in 9,176 Korean pregnant women: a single-center retrospective study.
Hyunjin Kim et al. BMC Pregnancy Childbirth 2024 24(1) 93
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International Atherosclerosis Society Roadmap for Familial Hypercholesterolaemia.
Gerald F Watts et al. Glob Heart 2024 19(1) 12
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Preimplantation genetic testing in couples with balanced chromosome rearrangement: a four-year period real world retrospective cohort study.
Fan Zhou et al. BMC Pregnancy Childbirth 2024 24(1) 86
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Genomic Medicine Guidance: A Point-of-Care App for Heritable Thoracic Aortic Diseases.
Rohan Patil et al. medRxiv 2024
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Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation.
Fiona Lynch et al. Int J Neonatal Screen 2024 10(1)
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Planning for Actionable Precision Medicine.
James J Cimino et al. Stud Health Technol Inform 2024 310244-248
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Evaluation of newborn hearing screening results of infants with phenylketonuria.
Fatih Yüksel et al. Int J Pediatr Otorhinolaryngol 2024 177111840
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Genetic contributions to risk of adverse pregnancy outcomes.
Zachary H Hughes et al. Curr Cardiovasc Risk Rep 2024 17(11) 185-193
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Mediating Factors in the Association of Maternal Educational Level With Pregnancy Outcomes: A Mendelian Randomization Study.
Tormod Rogne et al. JAMA Netw Open 2024 7(1) e2351166
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"We are just not sure what that means or if it's relevant": Uncertainty when gathering family history information in South African prenatal genetic counseling consultations.
Megan Scott et al. Soc Sci Med 2024 342116555
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The Role of Preprocedure Genetic Counseling in Pregnancies Interrupted for Fetal Abnormalities.
Alex A Francoeur et al. Am J Perinatol 2023
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A comprehensive view of pregnancy in patients with sickle cell disease in high-income countries: the need for robust data and further decline in morbidity and mortality.
Laure Joseph et al. Lancet Haematol 2023 11(1) e75-e84
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Parental experience with an ocular genetic counseling services in Saudi Arabia.
Areej Alizary et al. Saudi J Ophthalmol 2023 37(4) 296-300
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A cost-effectiveness analysis of pre-pregnancy genetic screening for deafness: an empirical study in China.
Yipeng Lv et al. Front Public Health 2023 111081339
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Pregnancy After Breast Cancer in Young BRCA Carriers: An International Hospital-Based Cohort Study.
Matteo Lambertini et al. JAMA 2023
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Whole exome sequencing identifies novel pathogenic variants in TGM1 and ALOX12B in patients with hereditary ichthyosis.
Mitra Chegini et al. Arch Dermatol Res 2023 316(1) 24
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 30, 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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