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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)
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Last data update: May 18, 2024
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Genetic counseling access and service delivery in New York State is variable for parents of infants with complex CFTR genotypes conferring uncertain phenotypes.
Denise M Kay et al. Pediatr Pulmonol 2024
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International Perspectives of Extended Genetic Sequencing When Used as Part of Newborn Screening to Identify Cystic Fibrosis.
Corinna C A Clark et al. Int J Neonatal Screen 2024 10(2)
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Cardiovascular Risk Factors Among First-Degree Relatives of Patients with Premature Cardiovascular Disease in Malta. Baseline Findings from the CRISO Project.
Justin Lee Mifsud et al. Vasc Health Risk Manag 2024 20167-176
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Cystic Fibrosis Foundation Evidence-Based Guideline for the Management of CRMS/CFSPID.
Deanna M Green et al. Pediatrics 2024
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Stakeholder Views of the Proposed Introduction of Next Generation Sequencing into the Cystic Fibrosis Screening Protocol in England.
Pru Holder et al. Int J Neonatal Screen 2024 10(1)
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The Psychological Impact on Parents of Children who Receive an Inconclusive Diagnosis for Cystic Fibrosis following Newborn Screening: A Systematic Mini-Review.
Ioanna Loukou et al. Children (Basel) 2024 11(1)
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Optimization of performance of Dutch newborn screening for cystic fibrosis.
M J Bouva et al. J Cyst Fibros 2023
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Use of Apolipoprotein B in the Era of Precision Medicine: Time for a Paradigm Change?
Justine Cole et al. J Clin Med 2023 12(17)
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Diagnostic challenges in CFTR-related metabolic syndrome: Where the guidelines fall short.
Erin F Kallam et al. Paediatr Respir Rev 2023
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Children with cystic fibrosis are still receiving inconclusive diagnosis despite undergoing newborn screening.
Ioanna Loukou et al. Acta Paediatr 2023
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Outcomes of children with cystic fibrosis screen positive, inconclusive diagnosis/CFTR related metabolic syndrome.
Mohini A Gunnett et al. Frontiers in pediatrics 2023 111127659
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Immunoreactive Trypsinogen in Infants Born to Women with Cystic Fibrosis Taking Elexacaftor-Tezacaftor-Ivacaftor.
Payal Patel et al. International journal of neonatal screening 2023 9(1)
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Association of triglyceride-glucose index with atherosclerotic cardiovascular disease and mortality among familial hypercholesterolemia patients.
Jun Wen et al. Diabetology & metabolic syndrome 2023 15(1) 39
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A Multicentre Italian Study on the Psychological Impact of an Inconclusive Cystic Fibrosis Diagnosis after Positive Neonatal Screening.
Antonella Tosco et al. Children (Basel, Switzerland) 2023 10(2)
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CFTR-Related Metabolic Syndrome: Genetic Variants Increasing Pancreatitis Risk in the Pediatric Puerto Rican Population.
Jesús M Meléndez-Montañez et al. Children (Basel, Switzerland) 2023 10(2)
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The efficacy of intranasal oxytocin in patients with Prader-Willi syndrome: A systematic review and meta-analysis.
Noran M Shalma et al. Diabetes & metabolic syndrome 2023 17(2) 102711
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Lifestyle and Health-Related Quality of Life Relationships Concerning Metabolic Disease Phenotypes on the Nutrimdea Online Cohort.
Higuera-Gómez Andrea et al. International journal of environmental research and public health 2023 20(1)
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Cardiovascular risk-enhancing factors and coronary artery calcium in South Asian American adults: The MASALA study.
Shah Harini et al. American journal of preventive cardiology 2023 13100453
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Original Article: prevalence and factors associated with liver fibrosis among first-degree relatives of Mexican Americans with hepatocellular carcinoma.
Sharpton Suzanne et al. Alimentary pharmacology & therapeutics 2023
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Use of Family History of cardiovascular disease or chronic hypertension to better identify who needs postpartum cardiovascular risk screening.
Ackerman-Banks Christina M et al. American journal of obstetrics & gynecology MFM 2023 100850
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High rates of anxiety detected in mothers of children with inconclusive cystic fibrosis screening results.
Ginsburg Daniella K et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2022
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REFINEMENT OF NEWBORN SCREENING FOR CYSTIC FIBROSIS WITH NEXT GENERATION SEQUENCING.
Rock Michael J et al. Pediatric pulmonology 2022
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Immunoreactive trypsinogen in healthy newborns and infants with cystic fibrosis.
Fingerhut Ralph et al. Archives of disease in childhood. Fetal and neonatal edition 2022
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Parental Preferences about Policy Options Regarding Disclosure of Incidental Genetic Findings in Newborn Screening: Using Videos and the Internet to Educate and Obtain Input.
Farrell Michael H et al. International journal of neonatal screening 2022 8(4)
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Prevalence of haplotype DQ2/DQ8 and celiac disease in children with type 1 diabetes.
Zubkiewicz-Kucharska Agnieszka et al. Diabetology & metabolic syndrome 2022 14(1) 128
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Impact of Pancreatitis-Associated Protein on Newborn Screening Outcomes and Detection of CFTR-Related Metabolic Syndrome (CRMS)/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A Monocentric Prospective Pilot Experience.
Bianchimani Chiara et al. International journal of neonatal screening 2022 8(3)
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TERT and TET2 Genetic Variants Affect Leukocyte Telomere Length and Clinical Outcome in Coronary Artery Disease Patients-A Possible Link to Clonal Hematopoiesis.
Opstad Trine B et al. Biomedicines 2022 10(8)
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Different management approaches and outcome for infants with an inconclusive diagnosis following newborn screening for cystic fibrosis (CRMS/CFSPID) and Pseudomonas aeruginosa isolation.
Dolce Daniela et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2022
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Genetics and Epigenetics in Personalized Nutrition: Evidence, Expectations and Experiences.
Holzapfel Christina et al. Molecular nutrition & food research 2022 e2200077
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Genetic Polymorphisms in a Familial Hypercholesterolemia Population from North-Eastern Europe.
Ma?taleru Alexandra et al. Journal of personalized medicine 2022 12(3)
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 18, 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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