Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome.
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MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples.Ultrasensitive and high-efficiency screen of de novo low-frequency mutations by o2n-seq.Familial cases and male cases with MECP2 mutationsDe Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicismPrenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations.Sequencing-based diagnostics for pediatric genetic diseases: progress and potentialGonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy.The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.The role of genetic testing in epilepsy diagnosis and management.Dravet syndrome and its mimics: Beyond SCN1A.Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations.Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort.Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.De novo SCN1A pathogenic variants in the GEFS+ spectrum: Not always a familial syndrome.Parental Mosaicism in "De Novo" Epileptic Encephalopathies.Distinctive types of postzygotic single-nucleotide mosaicisms in healthy individuals revealed by genome-wide profiling of multiple organs.High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.Clinical Application of Epilepsy Genetics in Africa: Is Now the Time?
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Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 19 June 2015
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Amplicon Resequencing Identifi ...... Children with Dravet Syndrome.
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Amplicon Resequencing Identifi ...... Children with Dravet Syndrome.
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type
label
Amplicon Resequencing Identifi ...... Children with Dravet Syndrome.
@en
Amplicon Resequencing Identifi ...... Children with Dravet Syndrome.
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prefLabel
Amplicon Resequencing Identifi ...... Children with Dravet Syndrome.
@en
Amplicon Resequencing Identifi ...... Children with Dravet Syndrome.
@nl
P2093
P2860
P50
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Amplicon Resequencing Identifi ...... Children with Dravet Syndrome.
@en
P2093
Liping Wei
Sheng Wang
Xiaojing Xu
Xiaoling Yang
Zhichao Zhang
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P304
P356
10.1002/HUMU.22819
P577
2015-06-19T00:00:00Z