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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)
Last data update: Apr 23, 2024
. (Total: 63653 Documents since 2012)
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Clinically significant changes in genes and variants associated with epilepsy over time: implications for re-analysis.
Alan J Robertson et al. Sci Rep 2024 14(1) 7717
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Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions.
Ali AlMail et al. NPJ Genom Med 2024 9(1) 27
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A phenome-wide association and Mendelian randomisation study of alcohol use variants in a diverse cohort comprising over 3 million individuals.
Mariela V Jennings et al. EBioMedicine 2024 105086
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Accessibility, availability and common practices regarding genetic testing for epilepsy across Europe: A survey of the European Reference Network EpiCARE.
Maria T Papadopoulou et al. Epilepsia Open 2024
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A Communication and Decision-Making Framework for Pediatric Precision Medicine.
Brittany L Greene et al. Pediatrics 2024
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Genetic testing for unexplained epilepsy: A review of diagnostic approach, benefits, and referral algorithm.
Alexis Karlin et al. Curr Probl Pediatr Adolesc Health Care 2024 101579
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The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young.
Megan J Puckelwartz et al. Genome Med 2024 16(1) 13
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Long-term predictors of developmental outcome and disease burden in SCN1A-positive Dravet syndrome.
Tony Feng et al. Brain Commun 2024 6(1) fcae004
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Real-world diagnostic outcomes and cost-effectiveness of genome-wide sequencing for developmental and seizure disorders: evidence from Canada
DA Regier et al, Genetics in Medicine, January 8, 2024
Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratories.
Maximilian G W Witzel et al. Front Neurol 2023 141276238
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The role of copy number variants in the genetic architecture of common familial epilepsies.
et al. Epilepsia 2023
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Experiences of adults living with refractory epilepsy and their views and expectations on receiving results from whole genome sequencing.
Cynthia Addona et al. Epilepsy Res 2023 196107221
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Clinical and Demographic Characteristics of Families Attending the Epilepsy, Neuromuscular, and Child Wellbeing Clinics.
Ahmed K Bamaga et al. Cureus 2023 15(8) e43651
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Assessment of clinically actionable pharmacogenetic markers to stratify anti-seizure medications.
Debleena Guin et al. Pharmacogenomics J 2023
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CAGI6 ID-Challenge: Assessment of phenotype and variant predictions in 415 children with Neurodevelopmental Disorders (NDDs).
Maria Cristina Aspromonte et al. Res Sq 2023
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Genome sequencing for the fast diagnosis of early-onset epilepsies.
Katrine M Johannesen et al. Lancet Neurol 2023 22(9) 773-774
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Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.
Alissa M D'Gama et al. Lancet Neurol 2023 22(9) 812-825
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The International SCN8A Patient Registry: A Scientific Resource to Advance the Understanding and Treatment of a Rare Pediatric Neurodevelopmental Syndrome.
Jennifer G Andrews et al. J Registry Manag 2023 50(1) 4-10
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Creating rare epilepsy cohorts using keyword search in electronic health records.
Kristen Barbour et al. Epilepsia 2023
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Predictive factors of genetic diagnosis and real-life impact of next-generation sequencing for children with epilepsy.
Gustavo Moura da Mata Machado Ferreira Pinto et al. Epileptic Disord 2023
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Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
Shyam K Akula et al. JAMA Neurol 2023
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Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
Hyun Yong Koh et al. JAMA Netw Open 2023 6(7) e2324380
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Risk-conferring HLA variants in an epilepsy cohort: benefits of multifaceted use of whole genome sequencing in clinical practice.
Angeliki Vakrinou et al. J Neurol Neurosurg Psychiatry 2023
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Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general population.
Linnaeus Bundalian et al. Am J Hum Genet 2023
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Integrating real-world data in cost-effectiveness analysis of universal HLA-B*15:02 screening in Malaysia.
Huey Yi Chong et al. Br J Clin Pharmacol 2023
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Epilepsy panels in clinical practice: Yield, variants of uncertain significance, and treatment implications.
Dylan C Brock et al. Epilepsy Res 2023 193107167
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Chromosomal Microarray in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital.
Ana Karen Sandoval-Talamantes et al. Genes (Basel) 2023 14(4)
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The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young.
Megan J Puckelwartz et al. medRxiv 2023
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Shared decision-making and the caregiver experience in tuberous sclerosis complex: results from a UK survey.
Hanna Skrobanski et al. Orphanet J Rare Dis 2023 18(1) 78
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Individualised human phenotype ontology gene panels improve clinical whole exome and genome sequencing analytical efficacy in a cohort of developmental and epileptic encephalopathies.
Olivia J Henry et al. Molecular genetics & genomic medicine 2023 e2167
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 23, 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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