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Public Health Genomics and Precision Health Knowledge Base (v9.0)
PHGKB
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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: May 07, 2024
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Birth Defects Or Congenital Anomalies[original query]>>Tools/Methods [Product Type]
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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Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders.
Bizzari Sami et al. Genes 2021 12(10)
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Birth Defects Surveillance Toolkit
CDC, January 2021
CHDGKB: a knowledgebase for systematic understanding of genetic variations associated with non-syndromic congenital heart disease.
Yang Lan et al. Database : the journal of biological databases and curation 2020 Jan 2020
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Duchenne Muscular Dystrophy Education Series
American Academy of Pediatrics
2019 Digital Toolkit: NATIONAL BIRTH DEFECTS PREVENTION MONTH
The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers.
Gainotti Sabina et al. European journal of human genetics : EJHG 2018 Feb
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Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer.
Sernadela Pedro et al. BioMed research international 2017 20178327980
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Evidence-based practices on reducing transfusion complications in sickle cell disease
Provider Training Video Series, Georgia Health Policy Center, 2017
eRAM: encyclopedia of rare disease annotations for precision medicine.
Jia Jinmeng et al. Nucleic acids research 2017 Nov
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Sickle Cell Disease: What You Should Know
CDC podcast, 2017
Hemophilia Treatment Center (HTC) Directory
Mendel,MD: A user-friendly open-source web tool for analyzing WES and WGS in the diagnosis of patients with Mendelian disorders.
G C C L Cardenas Raony et al. PLoS computational biology 2017 Jun 13(6) e1005520
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Molecular diagnostics for hereditary hearing loss in children.
Sommen Manou et al. Expert review of molecular diagnostics 2017 Jun
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Massive-scale genomic data sharing to improve rare disease diagnosis
D MacArthur VIDEO presentation, Scripps Institute, Future of Genomic Medicine 2017
ApreciseKUre: an approach of Precision Medicine in a Rare Disease.
Spiga Ottavia et al. BMC medical informatics and decision making 2017 Apr 17(1) 42
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DMDtoolkit: a tool for visualizing the mutated dystrophin protein and predicting the clinical severity in DMD.
Zhou Jiapeng et al. BMC bioinformatics 2017 Feb 18(1) 87
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Clinical Practice Guidelines for Rare Diseases: The Orphanet Database.
Pavan Sonia et al. PloS one 2017 12(1) e0170365
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Findings from the National Birth Defects Prevention Study: Interpretation and translation for the clinician.
Alwan Sura et al. Birth Defects Res. Part A Clin. Mol. Teratol. 2015 Jun 25.
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The use of a Toolkit for health needs assessment on neural tube defects in Argentina.
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 07, 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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