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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Public Health Genomics Branch
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Precision Health Database
Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Reproductive and Child Health
Last data update: May 01, 2024
. (Total: 63728 Documents since 2012)
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The FDA and Gene Therapy for Duchenne Muscular Dystrophy
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy
Global health systems strengthening: FIGO's strategic view on reducing maternal and newborn mortality worldwide.
Jezid Miranda et al. Int J Gynaecol Obstet 2024
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Optimal Treatment Approaches to Intestinal Behçet's Disease Complicated by Myelodysplastic Syndrome: The KASID and KSBD Multicenter Study.
Jung-Bin Park et al. Yonsei Med J 2024 65(5) 265-275
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Gene replacement therapy in Bietti crystalline corneoretinal dystrophy: an open-label, single-arm, exploratory trial.
Jinyuan Wang et al. Signal Transduct Target Ther 2024 9(1) 95
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Effectiveness of multimodal participant recruitment in SPARK, a large, online longitudinal research study of autism.
Amy M Daniels et al. J Clin Transl Sci 2024 8(1) e64
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Factors Associated with Early and Periodic Screening, Diagnostic, and Treatment Services in a Medicaid Managed Care Pediatric Population.
Shamly Austin et al. J Health Care Poor Underserved 2024 35(1) 79-93
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Long-term follow-up of children with sickle cell disease diagnosed by newborn screening in the Netherlands: Overview of morbidity and mortality.
Caroline Vuong et al. Am J Hematol 2024
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Prevalence of hereditary hemorrhagic telangiectasia in a medical care program organization in Buenos Aires, Argentina.
Marcelo M Serra et al. Medicina (B Aires) 2024 84(2) 221-226
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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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Translational Research and Health Equity: Gene Therapies for Sickle Cell Disease as a Case Study.
Mary A Majumder et al. Ethics Hum Res 2024 46(3) 34-39
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Cost-effectiveness of BRCA1 testing at time of obstetrical prenatal carrier screening for cancer prevention.
Shayan M Dioun et al. Am J Obstet Gynecol 2024
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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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EXPANDED NEWBORN SCREENING FOR INBORN ERRORS OF IMMUNITY: THE EXPERIENCE OF TUSCANY.
Silvia Ricci et al. J Allergy Clin Immunol Pract 2024
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Navigating equity in global access to genome therapy expanding access to potentially transformative therapies and benefiting those in need requires global policy changes.
Tsung-Ling Lee et al. Front Genet 2024 151381172
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Stigma associated with genetic testing for rare diseases-causes and recommendations.
Gareth Baynam et al. Front Genet 2024 151335768
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Postpartum Breast Cancer and Survival in Women With Germline BRCA Pathogenic Variants.
Zhenzhen Zhang et al. JAMA Netw Open 2024 7(4) e247421
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Exagamglogene Autotemcel for Severe Sickle Cell Disease
Examining Sex Differences in Autism Heritability.
Sven Sandin et al. JAMA Psychiatry 2024
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Impact of Race, Socioeconomic Status, and Geography on Healthcare Outcomes for Children With Sickle Cell Disease in the United States: A Scoping Review
Exploration of clinical and ethical issues in an expanded newborn metabolic screening programme: a qualitative interview study of healthcare professionals in Hong Kong.
O M Y Ngan et al. Hong Kong Med J 2024
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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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Prenatal screening after preimplantation genetic testing for aneuploidy: time to evaluate old strategies.
María Gabriela Palacios-Verdú et al. Reprod Biomed Online 2024 48(6) 103761
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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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Impact of Race, Socioeconomic Status, and Geography on Healthcare Outcomes for Children With Sickle Cell Disease in the United States: A Scoping Review.
Sameerah Wahab et al. Cureus 2024 16(3) e56089
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Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Julie A Jurgens et al. medRxiv 2024
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Awareness of sickle cell disease among nursing undergraduates in Farasan: Its interference with malaria.
Shabihul Fatma Sayed et al. J Family Med Prim Care 2024 13(2) 589-599
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Parental questions about sex chromosome aneuploidies regarding sex, gender, and sexual orientation as reported by genetic counselors in a prenatal setting.
Sarah Burzynski et al. J Genet Couns 2024
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Association of Obesity with Telomere Length in Human Sperm.
Efthalia Moustakli et al. J Clin Med 2024 13(7)
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Evaluation of the Genetic Background of Patients with Niemann-Pick Disease.
Fatemeh Alipouran et al. Rep Biochem Mol Biol 2024 12(3) 386-392
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 01, 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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