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Precision Health Database


Genomics & Health Impact Scan Database|Search|PHGKB

Reproductive and Child Health

Last data update: Jan 31, 2023. (Total: 52373 Documents since 2012)
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Query Trace: all[original query]>>Tools/Methods [Product Type]
Genetic and Rare Diseases Information Center (GARD).
Hoskins Amber et al. Medical reference services quarterly 2022 41(4) 389-394
GENE TARGET: A framework for evaluating Mendelian neurodevelopmental disorders for gene therapy.
Chopra Maya et al. Molecular therapy. Methods & clinical development 2022 2732-46
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)
AutoCaSc: Prioritizing candidate genes for neurodevelopmental disorders.
Lieberwirth Johann et al. Human mutation 2022
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
CHDbase: A comprehensive knowledgebase for congenital heart disease-related genes and clinical manifestations.
Zhou Wei-Zhen et al. Genomics, proteomics & bioinformatics 2022
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)
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)
A machine learning-based screening tool for genetic syndromes in children.
Mensah Martin Atta et al. The Lancet. Digital health 2022 4(5) e295
Attention Deficit Hyperactivity Disorder Classification Based on Deep Learning.
Wang Donglin et al. IEEE/ACM transactions on computational biology and bioinformatics 2022 PP
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
seqr: a web-based analysis and collaboration tool for rare disease genomics.
Pais Lynn S et al. Human mutation 2022
Gene-Disease Relationship Evidence: A clinical perspective focusing on ultra-rare diseases.
Santen Gijs W E et al. Human mutation 2022
Variomes: a high recall search engine to support the curation of genomic variants.
Pasche Emilie et al. Bioinformatics (Oxford, England) 2022
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
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
Laurie Steven et al. Human mutation 2022
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
PhenomeCentral: 7 years of rare disease matchmaking.
Osmond Matthew et al. Human mutation 2022
GRNDaD: big data and sickle cell disease.
Lanzkron Sophie et al. Blood advances 2022 6(3) 1088
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
A framework for reporting secondary and incidental findings in prenatal sequencing: when and for whom?
Vears Danya et al. Prenatal diagnosis 2022
Towards a Newborn Screening Common Data Model: The Utah Newborn Screening Data Model.
Jones David et al. International journal of neonatal screening 2021 7(4)
An update on the CHDGKB for the systematic understanding of risk factors associated with non-syndromic congenital heart disease.
Yang Lan et al. Computational and structural biotechnology journal 2021 195741-5751
A Visual Phenotype-Based Differential Diagnosis Process for Rare Diseases.
Yang Jian et al. Interdisciplinary sciences, computational life sciences 2021
Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders.
Bizzari Sami et al. Genes 2021 12(10)
ResultsMyWay: combining Fast Healthcare Interoperability Resources (FHIR), Clinical Quality Language (CQL), and informational resources to create a newborn screening application.
Watkins Michael et al. AMIA ... Annual Symposium proceedings. AMIA Symposium 2021 2021615-623
VIP-HL: Semi-automated ACMG/AMP variant interpretation platform for genetic hearing loss.
Peng Jiguang et al. Human mutation 2021
A More Universal Approach to Comprehensive Analysis of ThalaSsemia Alleles (CATSA).
Liang Qiaowei et al. The Journal of molecular diagnostics : JMD 2021
The Longitudinal Pediatric Data Resource: Facilitating Longitudinal Collection of Health Information to Inform Clinical Care and Guide Newborn Screening Efforts.
Brower Amy et al. International journal of neonatal screening 2021 7(3)
A Deep Neural Network-Based Model for Screening Autism Spectrum Disorder Using the Quantitative Checklist for Autism in Toddlers (QCHAT).
Mujeeb Rahman K K et al. Journal of autism and developmental disorders 2021
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