(Q46498407)

22 December 2017

title

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy (English)

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22 December 2017

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22 December 2017

author name string

Kelly D Farwell Hagman

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22 December 2017

Deepali N Shinde

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22 December 2017

Cameron Mroske

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22 December 2017

Zöe Powis

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22 December 2017

Shuwei Li

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22 December 2017

Sha Tang

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22 December 2017

Ingo Helbig

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22 December 2017

language of work or name

English

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publication date

21 January 2016

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22 December 2017

published in

Genetics in Medicine

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22 December 2017

volume

18

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issue

9

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22 December 2017

page(s)

898-905

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22 December 2017

https://scigraph.springernature.com/pub.10.1038/gim.2015.186

exact match

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cites work

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12 December 2020

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COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

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12 December 2020

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12 December 2020

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12 December 2020

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

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12 December 2020

The hidden genetics of epilepsy-a clinically important new paradigm

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12 December 2020

Exome sequencing can improve diagnosis and alter patient management

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12 December 2020

Molecular findings among patients referred for clinical whole-exome sequencing

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12 December 2020

Points to consider in the clinical application of genomic sequencing

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12 December 2020

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

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12 December 2020

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

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12 December 2020

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

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12 December 2020

CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems

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12 December 2020

Diagnostic exome sequencing in persons with severe intellectual disability

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12 December 2020

Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome

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12 December 2020

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

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12 December 2020

Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability

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12 December 2020

De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies

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12 December 2020

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

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12 December 2020

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

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12 December 2020

Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.

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12 December 2020

Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.

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12 December 2020

Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009

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Recurrent de novo mutations implicate novel genes underlying simplex autism risk

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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

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Large-scale discovery of novel genetic causes of developmental disorders

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The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

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Clinical whole-exome sequencing for the diagnosis of mendelian disorders

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12 December 2020

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

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12 December 2020

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

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12 December 2020

GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy

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12 December 2020

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12 December 2020

Identifiers

DOI

10.1038/GIM.2015.186

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22 December 2017

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22 December 2017