Clinical application of exome sequencing in undiagnosed genetic conditions (Q24604127)

5

object named as

Kevin V Shianna

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David B. Goldstein

8

object named as

David B Goldstein

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author name string

Vandana Shashi

2

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Yuki Hitomi

3

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Kelly Schoch

4

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Marie T McDonald

6

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Miriam H Meisler

Journal of Medical Genetics

7

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language of work or name

English

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publication date

June 2012

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published in

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volume

49

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page(s)

353-61

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issue

6

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cites work

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Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

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27 September 2017

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A U1 snRNA:pre-mRNA base pairing interaction is required early in yeast spliceosome assembly but does not uniquely define the 5' cleavage site.

27 September 2017

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27 September 2017

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Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.

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28 November 2018

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28 November 2018

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28 November 2018

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Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2-->q24.3 in a girl with autistic features and developmental delay.

28 November 2018

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Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome.

28 November 2018

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HnRNP U mediates the long-range regulation of Shh expression during limb development.

28 November 2018

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The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice

28 November 2018

1 reference

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SCN2A Mutations and Benign Familial Neonatal-Infantile Seizures: The Phenotypic Spectrum

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375064

Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375064

Mutation analysis of the M6b gene in patients with Pelizaeus-Merzbacher-like syndrome.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375064

Myhre syndrome: new reports, review, and differential diagnosis.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375064

A gain-of-function mutation in the sodium channel gene Scn2a results in seizures and behavioral abnormalities.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375064

De novo nonsense mutations in the sodium channel gene, SCN2A, in sporadic intractable epilepsy

28 November 2018

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12 December 2020

Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3.

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12 December 2020

Aetiological findings and associated factors in children with severe mental retardation

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12 December 2020

Increased exonic de novo mutation rate in individuals with schizophrenia

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12 December 2020

The voltage-gated sodium channel gene SCN2A and idiopathic generalized epilepsy

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12 December 2020

Construction of a novel database containing aberrant splicing mutations of mammalian genes

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12 December 2020

Seizure phenotypes of a family with missense mutations in SCN2A

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12 December 2020

Seizure-modifying potential of histamine H1 antagonists: a clinical observation

1 reference

12 December 2020

10.1136/JMEDGENET-2012-100819

Identifiers

DOI

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1439231

1439231

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1 reference

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