scholarly journals Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients

2016 ◽  
Vol 4 (5) ◽  
pp. 568-580 ◽  
Author(s):  
Carolien G.F. de Kovel ◽  
Eva H. Brilstra ◽  
Marjan J.A. van Kempen ◽  
Ruben van‘t Slot ◽  
Isaac J. Nijman ◽  
...  
Keyword(s):  
Candidate Genes ◽  
Epileptic Encephalopathy ◽  
Large Cohort ◽  
Targeted Sequencing

scholarly journals Targeted sequencing of candidate genes of dyslipidemia in Punjabi Sikhs: Population-specific rare variants in GCKR promote ectopic fat deposition

PLoS ONE ◽  
2019 ◽  
Vol 14 (8) ◽  
pp. e0211661 ◽  
Author(s):  
Dharambir K. Sanghera ◽  
Ruth Hopkins ◽  
Megan W. Malone-Perez ◽  
Cynthia Bejar ◽  
Chengcheng Tan ◽  
...  
Keyword(s):  
Candidate Genes ◽  
Rare Variants ◽  
Fat Deposition ◽  
Targeted Sequencing ◽  
Ectopic Fat ◽  
Ectopic Fat Deposition

scholarly journals Targeted Sequencing Reveals Large-Scale Sequence Polymorphism in Maize Candidate Genes for Biomass Production and Composition

PLoS ONE ◽  
2015 ◽  
Vol 10 (7) ◽  
pp. e0132120 ◽  
Author(s):  
Moses M. Muraya ◽  
Thomas Schmutzer ◽  
Chris Ulpinnis ◽  
Uwe Scholz ◽  
Thomas Altmann
Keyword(s):  
Candidate Genes ◽  
Biomass Production ◽  
Large Scale ◽  
Sequence Polymorphism ◽  
Targeted Sequencing ◽  
Scale Sequence

De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy

2018 ◽  
Vol 56 (2) ◽  
pp. 113-122 ◽  
Author(s):  
Annalisa G Sega ◽  
Emily K Mis ◽  
Kristin Lindstrom ◽  
Saadet Mercimek-Andrews ◽  
Weizhen Ji ◽  
...  
Keyword(s):  
Genome Editing ◽  
Candidate Genes ◽  
Neuronal Differentiation ◽  
Protein Function ◽  
De Novo ◽  
Single Gene ◽  
Epileptic Encephalopathy ◽  
Epileptic Encephalopathies ◽  
Differentiation Factor

BackgroundEarly infantile epileptic encephalopathies are severe disorders consisting of early-onset refractory seizures accompanied often by significant developmental delay. The increasing availability of next-generation sequencing has facilitated the recognition of single gene mutations as an underlying aetiology of some forms of early infantile epileptic encephalopathies.ObjectivesThis study was designed to identify candidate genes as a potential cause of early infantile epileptic encephalopathy, and then to provide genetic and functional evidence supporting patient variants as causative.MethodsWe used whole exome sequencing to identify candidate genes. To model the disease and assess the functional effects of patient variants on candidate protein function, we used in vivo CRISPR/Cas9-mediated genome editing and protein overexpression in frog tadpoles.ResultsWe identified novel de novo variants in neuronal differentiation factor 2 (NEUROD2) in two unrelated children with early infantile epileptic encephalopathy. Depleting neurod2 with CRISPR/Cas9-mediated genome editing induced spontaneous seizures in tadpoles, mimicking the patients’ condition. Overexpression of wild-type NEUROD2 induced ectopic neurons in tadpoles; however, patient variants were markedly less effective, suggesting that both variants are dysfunctional and likely pathogenic.ConclusionThis study provides clinical and functional support for NEUROD2 variants as a cause of early infantile epileptic encephalopathy, the first evidence of human disease caused by NEUROD2 variants.

Targeted sequencing identifies novel GATA6 variants in a large cohort of patients with conotruncal heart defects

Gene ◽  
2018 ◽  
Vol 641 ◽  
pp. 341-348 ◽  
Author(s):  
Erge Zhang ◽  
Nanchao Hong ◽  
Sun Chen ◽  
Qihua Fu ◽  
Fen Li ◽  
...  
Keyword(s):  
Heart Defects ◽  
Large Cohort ◽  
Targeted Sequencing ◽  
Conotruncal Heart Defects

scholarly journals Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts

2015 ◽  
Vol 135 (1) ◽  
pp. 41-59 ◽  
Author(s):  
Federica Conte ◽  
Martin Oti ◽  
Jill Dixon ◽  
Carine E. L. Carels ◽  
Michele Rubini ◽  
...  
Keyword(s):  
Candidate Genes ◽  
Copy Number ◽  
Copy Number Variants ◽  
Large Cohort ◽  
Orofacial Cleft ◽  
Orofacial Clefts ◽  
Systematic Analysis

scholarly journals Targeted sequencing in candidate genes for atrial fibrillation: The Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study

Heart Rhythm ◽  
2014 ◽  
Vol 11 (3) ◽  
pp. 452-457 ◽  
Author(s):  
Honghuang Lin ◽  
Moritz F. Sinner ◽  
Jennifer A. Brody ◽  
Dan E. Arking ◽  
Kathryn L. Lunetta ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Candidate Genes ◽  
Targeted Sequencing ◽  
Aging Research ◽  
Genomic Epidemiology
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