Last Posted: Jul 14, 2020
- Children's rare disease cohorts: an integrative research and clinical genomics initiative.
Rockowitz Shira et al. NPJ genomic medicine 2020 529
- Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the 'beyond epilepsy' project.
Amadori Elisabetta et al. Italian journal of pediatrics 2020 Jul 46(1) 92
- Clinical Exome Studies Have Inconsistent Coverage.
Gotway Garrett et al. Clinical chemistry 2020 Jan 66(1) 199-206
- Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort.
Symonds Joseph D et al. Brain : a journal of neurology 2019 142(8) 2303-2318
- Children’s rare disease cohorts: an integrative research and clinical genomics initiative
S Rockowitz et al, NPJ Genomic Medicine, July 6, 2020
- Determining the best candidates for next-generation sequencing-based gene panel for evaluation of early-onset epilepsy.
Lee Jiwon et al. Molecular genetics & genomic medicine 2020 Jul e1376
- Bringing everyone to the table - findings from the 2018 Phelan-McDermid Syndrome Foundation International Conference.
Goodspeed Kimberly et al. Orphanet journal of rare diseases 2020 Jun 15(1) 152
- Genomic testing and counseling: The contribution of next-generation sequencing to epilepsy genetics.
Alsubaie Lamia et al. Annals of human genetics 2020 Jun
- Multimodal data analysis of epileptic EEG and rs-fMRI via deep learning and edge computing.
Hosseini Mohammad-Parsa et al. Artificial intelligence in medicine 2020 Apr 104101813
- Utility of genetic testing for therapeutic decision-making in adults with epilepsy.
Johannesen Katrine M et al. Epilepsia 2020 May
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