(Q50305196)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25131622%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

title

Clinical whole exome sequencing in child neurology practice (English)

1 reference

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12 March 2020

3

1 reference

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12 March 2020

author name string

Siddharth Srivastava

1

1 reference

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12 March 2020

Julie S Cohen

2

1 reference

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12 March 2020

Kristin Barañano

4

1 reference

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12 March 2020

Rebecca McClellan

5

1 reference

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12 March 2020

Leila Jamal

6

1 reference

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12 March 2020

SakkuBai Naidu

7

1 reference

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12 March 2020

Ali Fatemi

8

1 reference

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12 March 2020

publication date

30 August 2014

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12 March 2020

1 reference

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12 March 2020

volume

76

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12 March 2020

issue

4

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12 March 2020

page(s)

473-483

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On the future of genetic risk assessment

12 March 2020

cites work

1 reference

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

21 January 2018

1 reference

Targeted capture and massively parallel sequencing of 12 human exomes

21 January 2018

1 reference

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

21 January 2018

1 reference

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

21 January 2018

1 reference

Using whole-exome sequencing to identify inherited causes of autism

21 January 2018

1 reference

Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome

21 January 2018

1 reference

Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene

21 January 2018

1 reference

Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

1 reference

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

21 January 2018

1 reference

Exome sequencing can improve diagnosis and alter patient management

21 January 2018

1 reference

De novo mutations in epileptic encephalopathies

21 January 2018

1 reference

Updates in the genetic evaluation of the child with global developmental delay or intellectual disability

21 January 2018

1 reference

Genetic evaluation of intellectual disabilities

21 January 2018

1 reference

Making headway with genetic diagnostics of intellectual disabilities

21 January 2018

1 reference

A genotype-first approach to defining the subtypes of a complex disease

21 January 2018

1 reference

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

21 January 2018

1 reference

Points to consider for informed consent for genome/exome sequencing.

21 January 2018

1 reference

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

21 January 2018

1 reference

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

21 January 2018

1 reference

Laboratory policies on reporting secondary findings in clinical whole exome sequencing: initial uptake of the ACMG's recommendations

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/ANA.24251

1 reference

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12 March 2020

1 reference