Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

Precision Health Database


Genomics & Health Impact Scan Database|Search|PHGKB

Reproductive and Child Health

Last data update: Oct 17, 2021. (Total: 42870 Documents since 2012)
   dataset      
Filtered By:

Previous    

Records 1 - 30 (of 108 Records)

Next

Query Trace: all[original query]>>Tools/Methods [Product Type]
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
CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients.
Requena Francisco et al. Nucleic acids research 2021
Demetra Application: An integrated genotype analysis web server for clinical genomics in endometriosis.
Papageorgiou Louis et al. International journal of molecular medicine 2021 47(6)
Three machine learning algorithms and their utility in exploring risk factors associated with primary cesarean section in low-risk women: A methods paper.
Clark Rebecca R S et al. Research in nursing & health 2021
Birth Defects Surveillance Toolkit
CDC, January 2021
GeneBreaker - Variant simulation to improve the diagnosis of Mendelian rare genetic diseases.
Richmond Phillip A et al. Human mutation 2020 Dec
SCDC Fact Sheets
CDC, 2020
DINAX- a comprehensive database of inherited ataxias.
Chaudhari Sima et al. Computers in biology and medicine 2020 Sep 126104000
Flexible Real-Time Polymerase Chain Reaction-Based Platforms for Detecting Deafness Mutations in Koreans: A Proposed Guideline for the Etiologic Diagnosis of Auditory Neuropathy Spectrum Disorder.
Lee Sang-Yeon et al. Diagnostics (Basel, Switzerland) 2020 Sep 10(9)
GENE2D: A NoSQL Integrated Data Repository of Genetic Disorders Data.
Samra Halima et al. Healthcare (Basel, Switzerland) 2020 Aug 8(3)
Rare Diseases and COVID-19
CDC COVID-19 Genomics and Precision Health Portal, August 2020
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
Genetic Counseling for Neurofibromatosis 1, Neurofibromatosis 2, and Schwannomatosis-Practice Resource of the National Society of Genetic Counselors.
Radtke Heather B et al. Journal of genetic counseling 2020 Jun
WilsonGen a comprehensive clinically annotated genomic variant resource for Wilson's Disease.
Kumar Mukesh et al. Scientific reports 2020 Jun 10(1) 9037
Patient-Centered Prenatal Genetic Counseling,
School of Medicine, Continuing Education
Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies.
Dezfouli Mahya et al. Frontiers in immunology 2020 11455
Whole-Exome Sequencing in Czech Patients with Neurogenetic Diseases.
Stanek David et al. Genetic testing and molecular biomarkers 2020 Apr
Patient-Centered Prenatal Genetic Counseling
BU School of Medicine Continuing Medical Education
Duchenne Muscular Dystrophy Education Series
American Academy of Pediatrics
Determining the incidence of rare diseases.
Bainbridge Matthew N et al. Human genetics 2020 Feb
New CRISPR tool has the potential to correct almost all disease-causing DNA glitches, scientists report
S Begley. Stat News, October 21, 2019
A genome-wide scan statistic framework for whole-genome sequence data analysis.
He Zihuai, et al. Nature communications 2019 0 0. (1) 3018
The Community Counts Data Visualization Tool
CDC, 2019
Information and Diagnosis Networks - tools to improve diagnosis and treatment for patients with rare genetic diseases.
Vieira Taiane Alves et al. Genetics and molecular biology 2019 Jun
A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial.
Crow Rebecca A et al. Trials 2018 May 19(1) 291
Autism Data Visualization Tool
Explore the information to see autism spectrum disorder (ASD) prevalence estimates and demographic characteristics at the national, state, and community levels.
TOP