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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)
Neurological Disorders
Last data update: Apr 19, 2024
. (Total: 63627 Documents since 2012)
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all[original query]>>Original Studies[Product Type]
RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses.
Emil K Gustavsson et al. Lancet Neurol 2024
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Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing.
Sonya Watson et al. Neurol Genet 2024 10(3) e200133
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Predicting the complexity and mortality of polytrauma patients with machine learning models.
Meiqi Yu et al. Sci Rep 2024 14(1) 8302
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Scalable Approach to Consumer Wearable Postmarket Surveillance: Development and Validation Study.
Richard M Yoo et al. JMIR Med Inform 2024 12e51171
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Evaluation of the Genetic Background of Patients with Niemann-Pick Disease.
Fatemeh Alipouran et al. Rep Biochem Mol Biol 2024 12(3) 386-392
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Assessing the Benefits and Harms Associated with Early Diagnosis from the Perspective of Parents with Multiple Children Diagnosed with Duchenne Muscular Dystrophy
O Battacharria et al, IJNS, April 15, 2024
Clinical Utility and Diagnostic Yield of Genetic Testing for Inherited Neuromuscular Disorders in a Single, Large Neuromuscular Center.
Suzahn E Ebert et al. Neurol Clin Pract 2024 14(2) e200268
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Factors Influencing Patient Disclosure of Parkinson's Disease Genetic Testing Results to Relatives.
Jeanine Schulze et al. Mov Disord Clin Pract 2024
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Clinical application value of pre-pregnancy carrier screening in Chinese Han childbearing population.
Li Tan et al. Mol Genet Genomic Med 2024 12(4) e2425
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Automated Extraction of Stroke Severity from Unstructured Electronic Health Records using Natural Language Processing.
Marta Fernandes et al. medRxiv 2024
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Machine Learning-Based Prediction of Stroke in Emergency Departments.
Vida Abedi et al. Ther Adv Neurol Disord 2024 1717562864241239108
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Performance Evaluation of Deep, Shallow and Ensemble Machine Learning Methods for the Automated Classification of Alzheimer's Disease.
Noushath Shaffi et al. Int J Neural Syst 2024 2450029
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An exploration of the genetics of the mutant Huntingtin (mHtt) gene in a cohort of patients with chorea from different ethnic groups in sub-Saharan Africa.
Mendi J Muthinja et al. Ann Hum Genet 2024
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Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
Oliver Schwartz et al. JAMA Pediatr 2024
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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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Susceptibility to Treatment-Resistant Depression Within Families.
Chih-Ming Cheng et al. JAMA Psychiatry 2024
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PRERISK: A Personalized, Artificial Intelligence-Based and Statistically-Based Stroke Recurrence Predictor for Recurrent Stroke.
Giorgio Colangelo et al. Stroke 2024
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Utilizing ultra-early continuous physiologic data to develop automated measures of clinical severity in a traumatic brain injury population.
Shiming Yang et al. Sci Rep 2024 14(1) 7618
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Newborn screening for Duchenne muscular dystrophy: the perspectives of stakeholders.
Charli Ji et al. Lancet Reg Health West Pac 2024 45101049
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Prevalence of common autosomal recessive mutation carriers in women in the Southern Vietnam following the application of expanded carrier screening.
Xuan-Hong To-Mai et al. Sci Rep 2024 14(1) 7461
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Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.
Darcy L Fehlings et al. Nat Genet 2024
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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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Physical signs and atherosclerotic cardiovascular disease in familial hypercholesterolemia: the HELLAS-FH Registry.
Loukianos S Rallidis et al. J Cardiovasc Med (Hagerstown) 2024
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Development and Validation of Machine Learning Algorithms to Predict 1-Year Ischemic Stroke and Bleeding Events in Patients with Atrial Fibrillation and Cancer.
Bang Truong et al. Cardiovasc Toxicol 2024
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Ensemble-imbalance-based classification for amyotrophic lateral sclerosis prognostic prediction: identifying short-survival patients at diagnosis.
Fabiano Papaiz et al. BMC Med Inform Decis Mak 2024 24(1) 80
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Development of a Low Cost Semiquantitative Polymerase Chain Reaction Assay for Molecular Diagnosis of Williams Syndrome.
Dinali M Ranaweera et al. Clin Lab 2024 70(3)
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Individuals' experiences in genetic counseling and predictive testing for familial amyotrophic lateral sclerosis.
Connolly G Steigerwald et al. J Genet Couns 2024
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HFE genotypes, haemochromatosis diagnosis and clinical outcomes at age 80 years: a prospective cohort study in the UK Biobank.
Mitchell R Lucas et al. BMJ Open 2024 14(3) e081926
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Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.
Christopher J Record et al. Brain 2024
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Validated, Quantitative, Machine Learning-Generated Neurologic Assessment of Multiple Sclerosis Using a Mobile Application.
Sharon Stoll et al. Int J MS Care 2024 26(2) 69-74
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 19, 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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