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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)
Reproductive and Child Health
Last data update: Mar 28, 2024
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all[original query]>>Tools/Methods [Product Type]
Genomic Medicine Guidance: A Point-of-Care App for Heritable Thoracic Aortic Diseases.
Rohan Patil et al. medRxiv 2024
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NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders.
Kee Chan et al. Int J Neonatal Screen 2023 9(4)
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A decision-making framework for genomic testing in paediatric nephrology.
Inez Beadell et al. J Paediatr Child Health 2023
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A framework for evaluating long-term impact of newborn screening
S Kalkman et al, EJHG, October 3, 2023
ConsCal: A tool to aid medical genetics professionals in consanguineous populations.
Imen F Alkuraya et al. Am J Med Genet A 2023
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A Framework for a Health Economic Evaluation Model for Patients with Sickle Cell Disease to Estimate the Value of New Treatments in the United States of America.
Aaron Winn et al. PharmacoEconomics - open 2023
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Piloting a multidisciplinary approach to improve outcomes of fetal whole exome sequencing: An overview of workflow and case example.
Kestutis C Micke et al. Prenatal diagnosis 2023
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Genetic and Rare Diseases Information Center (GARD).
Hoskins Amber et al. Medical reference services quarterly 2022 41(4) 389-394
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GENE TARGET: A framework for evaluating Mendelian neurodevelopmental disorders for gene therapy.
Chopra Maya et al. Molecular therapy. Methods & clinical development 2022 2732-46
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dbRUSP: An Interactive Database to Investigate Inborn Metabolic Differences for Improved Genetic Disease Screening.
Peng Gang et al. International journal of neonatal screening 2022 8(3)
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AutoCaSc: Prioritizing candidate genes for neurodevelopmental disorders.
Lieberwirth Johann et al. Human mutation 2022
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AnFiSA: An open-source computational platform for the analysis of sequencing data for rare genetic disease.
Bouzinier M A et al. Journal of biomedical informatics 2022 104174
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dbRUSP: An Interactive Database to Investigate Inborn Metabolic Differences for Improved Genetic Disease Screening
J Peng et al, IJNS, August 29, 2022
CHDbase: A comprehensive knowledgebase for congenital heart disease-related genes and clinical manifestations.
Zhou Wei-Zhen et al. Genomics, proteomics & bioinformatics 2022
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Use of Online Newborn Screening Educational Resources for the Education of Expectant Parents: An Improvement in Equity.
Thompson Kristen et al. International journal of neonatal screening 2022 8(2)
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Congenital Heart Disease Gene: a Curated Database for Congenital Heart Disease Genes
A Yang et al, CIrc Gen Prec Medicine, May 6, 20222
A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes.
Burlina Alberto et al. International journal of neonatal screening 2022 8(2)
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A machine learning-based screening tool for genetic syndromes in children.
Mensah Martin Atta et al. The Lancet. Digital health 2022 4(5) e295
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Attention Deficit Hyperactivity Disorder Classification Based on Deep Learning.
Wang Donglin et al. IEEE/ACM transactions on computational biology and bioinformatics 2022 PP
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A preliminary application of a haemophilia value framework to emerging therapies in haemophilia.
Skinner Mark W et al. Haemophilia : the official journal of the World Federation of Hemophilia 2022 28 Suppl 29-18
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seqr: a web-based analysis and collaboration tool for rare disease genomics.
Pais Lynn S et al. Human mutation 2022
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Gene-Disease Relationship Evidence: A clinical perspective focusing on ultra-rare diseases.
Santen Gijs W E et al. Human mutation 2022
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Variomes: a high recall search engine to support the curation of genomic variants.
Pasche Emilie et al. Bioinformatics (Oxford, England) 2022
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PatientMatcher: a customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network.
Rasi Chiara et al. Human mutation 2022
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The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
Laurie Steven et al. Human mutation 2022
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Genomics4RD: An integrated platform to share Canadian deep-phenotype and multi-omic data for international rare disease gene discovery.
Driver Hannah G et al. Human mutation 2022
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PhenomeCentral: 7 years of rare disease matchmaking.
Osmond Matthew et al. Human mutation 2022
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GRNDaD: big data and sickle cell disease.
Lanzkron Sophie et al. Blood advances 2022 6(3) 1088
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PirePred: An Accurate Online Consensus Tool to Interpret Newborn Screening Related Genetic Variants in Structural Context.
Galano-Frutos Juan José et al. The Journal of molecular diagnostics : JMD 2022
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A framework for reporting secondary and incidental findings in prenatal sequencing: when and for whom?
Vears Danya et al. Prenatal diagnosis 2022
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Page last reviewed:
Feb 1, 2024
Page last updated:
Mar 28, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
,
National Center on Birth Defects and Developmental Disabilities
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