The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield
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Title
The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield
Authors
Keywords
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Journal
EPILEPSIA
Volume 60, Issue 5, Pages 797-806
Publisher
Wiley
Online
2019-04-06
DOI
10.1111/epi.14698
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Note: Only part of the references are listed.- CORRIGENDUM: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data
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- The importance of dynamic re-analysis in diagnostic whole exome sequencing
- (2016) Anna C Need et al. JOURNAL OF MEDICAL GENETICS
- Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy
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- (2015) Xiaolin Zhu et al. GENETICS IN MEDICINE
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
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