Last Posted: May 09, 2023
- PredictMed-epilepsy: A multi-agent based system for epilepsy detection and prediction in neuropediatrics.
Carlo M Bertoncelli et al. Comput Methods Programs Biomed 2023 236107548
- Towards automated video-based assessment of dystonia in dyskinetic cerebral palsy: A novel approach using markerless motion tracking and machine learning.
Helga Haberfehlner et al. Frontiers in robotics and AI 2023 101108114
- All Patients With a Cerebral Palsy Diagnosis Merit Genomic Sequencing.
Clare van Eyk et al. JAMA pediatrics 2023 3
- Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing Guidelines: A Systematic Review and Meta-analysis.
Pedro J Gonzalez-Mantilla et al. JAMA pediatrics 2023 3
- A big data approach to evaluate receipt of optimal care in childhood cerebral palsy.
Alexis Mitelpunkt et al. Disability and rehabilitation 2023 1-8
- Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy: A Systematic Review and Meta-analysis.
Srivastava Siddharth et al. JAMA neurology 2022
- Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy A Systematic Review and Meta-analysis
S Srivastava et al, JAMA Neurology, October 24, 2022
- Epidemiology, methods of diagnosis, and clinical management of patients with arginase 1 deficiency (ARG1-D): A systematic review.
Bin Sawad Aseel et al. Molecular genetics and metabolism 2022 137(1-2) 153-163
- Development and Validation of a Deep Learning Method to Predict Cerebral Palsy From Spontaneous Movements in Infants at High Risk.
Groos Daniel et al. JAMA network open 2022 5(7) e2221325
- Congenital muscle dystrophies: Role of singleton whole exome sequencing in countries with limited resources.
Masri Amira T et al. Clinical neurology and neurosurgery 2022 217107271
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.