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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|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Reproductive and Child Health
Last data update: Apr 25, 2024
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Leading Risk Factors for Congenital Deafness in the Context of Universal Neonatal Screening: Our Observations in a Four-Year Retrospective Study.
Antoine Paul et al. Int J Neonatal Screen 2024 10(1)
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Limitations, concerns and potential: attitudes of healthcare professionals toward preimplantation genetic testing using polygenic risk scores.
Maria Siermann et al. European journal of human genetics : EJHG 2023
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Effectiveness of intermittent screening and treatment of malaria in pregnancy on maternal and birth outcomes in selected districts in Rwanda: A cluster randomized controlled trial.
Aline Uwimana et al. Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 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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Clinical and economic evaluation of a proteomic biomarker preterm birth risk predictor: Cost-effectiveness modeling of prenatal interventions applied to predicted higher-risk pregnancies within a large and diverse cohort.
Burchard Julja et al. Journal of medical economics 2022 1-51
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Disparities in first evaluation of infants with cystic fibrosis since implementation of newborn screening.
McColley Susanna A et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2022
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Inborn Errors of Immunity With Fetal or Perinatal Clinical Manifestations.
Carneiro-Sampaio Magda et al. Frontiers in pediatrics 2022 10891343
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Ethical Considerations for Equitable Access to Genomic Sequencing for Critically Ill Neonates in the United States.
P Fishler Kristen et al. International journal of neonatal screening 2022 8(1)
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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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Implementation of Universal Newborn Screening for Severe Combined Immunodeficiency in Singapore While Continuing Routine Bacille-Calmette-Guerin Vaccination Given at Birth.
Chan Su-Wan Bianca et al. Frontiers in immunology 2022 12794221
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Neonatal cystic fibrosis screening: Analysis and differences in immunoreactive trypsin levels in newborns with a positive screen.
Arrudi-Moreno Marta et al. Anales de pediatria 2021
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Recommendations for neonatologists and pediatricians working in first level birthing centers on the first communication of genetic disease and malformation syndrome diagnosis: consensus issued by 6 Italian scientific societies and 4 parents' associations.
Serra Gregorio et al. Italian journal of pediatrics 2021 47(1) 94
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Follow-Up for an Abnormal Newborn Screen for Severe Combined Immunodeficiencies (NBS SCID): A Clinical Immunology Society (CIS) Survey of Current Practices.
Knight Vijaya et al. International journal of neonatal screening 2020 Jun 6(3)
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Initial Evaluation of Prospective and Parallel Assessments of Cystic Fibrosis Newborn Screening Protocols in Eastern Andalusia: IRT/IRT versus IRT/PAP/IRT.
Sadik Ilham et al. International journal of neonatal screening 2019 Sep 5(3) 32
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[Neonatal cystic fibrosis screening: Analysis and differences in immunoreactive trypsin levels in newborns with a positive screen].
Arrudi-Moreno Marta et al. Anales de pediatria (Barcelona, Spain : 2003) 2020 Oct
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Newborn Screening Protocols and Positive Predictive Value for Congenital Adrenal Hyperplasia Vary across the United States.
Speiser Phyllis W et al. International journal of neonatal screening 2020 Jun 6(2)
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Toward the Clinical Application of Therapeutic Angiogenesis Against Pediatric Ischemic Retinopathy.
Jo Dong Hyun et al. Journal of lipid and atherosclerosis 2020 May 9(2) 268-282
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Recent advances in the genetics of preterm birth.
Wadon Megan et al. Annals of human genetics 2019 Dec
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Mom's immune system and microbiome may help predict premature birth
A Keener, Science News, November 8, 2019
Exome sequencing identifies gene variants and networks associated with extreme respiratory outcomes following preterm birth.
Hamvas Aaron et al. BMC genetics 2018 19(1) 94
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CLINGEN Actionability Report for Thrombophilia due to protein S deficiency - PROS1
ClinGen Actionability Working Group
CLINGEN Actionability Report for Ehlers-Danlos syndrome, classic type - COL5A1, COL5A2
ClinGen Actionability Working Group
CLINGEN Actionability Report for Autosomal Dominant Polycystic Kidney Disease - DNAJB11, GANAB, PKD1, PKD2
ClinGen Actionability Working Group
ADHD in children and youth: Part 3-Assessment and treatment with comorbid ASD, ID, or prematurity.
Clark Brenda et al. Paediatrics & child health 2018 23(7) 485-490
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Science Update: Preterm infants with growth failure have key differences in microbiome, metabolism, NIH-funded study suggests
NIH, June 26, 2019
What Causes SIDS? Thousands of infants die unexpectedly each year, and experts are working to figure out why.
C Arnold, New York Times, June 2019
Fundamental Knowledge of Microbes Shedding New Light on Human Health
F Collins, NIH Director blog, May 29, 2019
Evaluation of the Dutch neonatal screening for congenital adrenal hyperplasia.
van der Linde Annelieke A A et al. Archives of disease in childhood 2019 Feb
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Perinatal follow-up of children born after preimplantation genetic diagnosis between 1995 and 2014.
Heijligers Malou et al. Journal of assisted reproduction and genetics 2018 Nov 35(11) 1995-2002
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Spontaneous premature birth as a target of genomic research.
Hallman Mikko et al. Pediatric research 2018 Sep
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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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