Last Posted: Oct 24, 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
- Common data elements to standardize genomics studies in cerebral palsy.
Wilson Yana A et al. Developmental medicine and child neurology 2022
- Prediction of Communication Impairment in Children With Bilateral Cerebral Palsy Using Multivariate Lesion- and Connectome-Based Approaches: Protocol for a Multicenter Prospective Cohort Study.
Hu Jie et al. Frontiers in human neuroscience 2022 16788037
- Epilepsy and related challenges in children with COL4A1 and COL4A2 mutations: A Gould syndrome patient registry.
Boyce Danielle et al. Epilepsy & behavior : E&B 2021 125108365
- Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing
CL van Eyk et al, NPJ Genomic Medicine, September 16, 2021
- Genetic counseling considerations in cerebral palsy.
Elliott Alison M et al. Molecular genetics and metabolism 2021
- Genomics in Cerebral Palsy phenotype across the lifespan: Comparison of diagnostic yield between children and adult population.
Al Zahrani Haifa et al. Molecular genetics and metabolism 2021
- Artificial intelligence to improve efficiency of administration of gross motor function assessment in children with cerebral palsy.
Duran Ibrahim et al. Developmental medicine and child neurology 2021
- Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy.
Yechieli Michal et al. Journal of medical genetics 2021
- Risks of covid-19 hospital admission and death for people with learning disability: population based cohort study using the OpenSAFELY platform.
Williamson Elizabeth J et al. BMJ (Clinical research ed.) 2021 374n1592
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.