Somatic mutations in cerebral cortical malformations (Q34763259)

4 August 2017

Somatic mutations in cerebral cortical malformations. (English)

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4 August 2017

3

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4 August 2017

29

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4 August 2017

Bhaven K Mehta

12

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Xiaochang Zhang

Xiaochang Zhang

7

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Elena Parrini

Elena Parrini

17

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Timothy W Yu

Timothy W Yu

31

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Ingrid Scheffer

Ingrid E Scheffer

19

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Mustafa Sahin

Mustafa Sahin

25

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Bernard Dan

Bernard Dan

16

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Samuel Berkovic

Samuel F Berkovic

20

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Christopher A. Walsh

32

Christopher A Walsh

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4 August 2017

18

Renzo Guerrini

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4 August 2017

28

Deborah A Nickerson

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4 August 2017

30

Annapurna Poduri

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4 August 2017

27

Michael Bamshad

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4 August 2017

Saumya S Jamuar

1

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4 August 2017

Anh-Thu N Lam

2

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4 August 2017

Alissa M D'Gama

4

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4 August 2017

Jian Wang

5

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4 August 2017

Brenda J Barry

6

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4 August 2017

Robert Sean Hill

8

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4 August 2017

Jennifer N Partlow

9

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4 August 2017

Aldo Rozzo

10

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4 August 2017

Sarah Servattalab

11

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4 August 2017

Meral Topcu

13

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4 August 2017

Dina Amrom

14

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4 August 2017

Eva Andermann

15

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4 August 2017

Richard J Leventer

21

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4 August 2017

Yiping Shen

22

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4 August 2017

Bai Lin Wu

23

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4 August 2017

A James Barkovich

24

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4 August 2017

Bernard S Chang

26

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4 August 2017

language of work or name

English

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publication date

1 August 2014

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The New England Journal of Medicine

4 August 2017

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4 August 2017

371

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4 August 2017

733-743

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4 August 2017

8

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Clinical whole-exome sequencing for the diagnosis of mendelian disorders

4 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4274952

Emerging patterns of somatic mutations in cancer

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4274952

De novo mutations in epileptic encephalopathies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4274952

Somatic mutation, genomic variation, and neurological disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4274952

Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4274952

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4274952

A genomic view of mosaicism and human disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4274952

Disease-targeted sequencing: a cornerstone in the clinic

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4274952

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4274952

Using whole-exome sequencing to identify inherited causes of autism

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4274952

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4274952

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4274952

Somatic activation of AKT3 causes hemispheric developmental brain malformations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4274952

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4274952

Molecular genetics of neuronal migration disorders

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4274952

Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4274952

A method and server for predicting damaging missense mutations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4274952

Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4274952

Predicting deleterious amino acid substitutions

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4274952

Activating mutations of the stimulatory G protein in the McCune-Albright syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4274952

High rate of mosaicism in individuals with Cornelia de Lange syndrome.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4274952

Diagnostic exome sequencing in persons with severe intellectual disability

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4274952

Clinical and radiological findings in Pallister-Killian syndrome.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4274952

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4274952

Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4274952

Hamartoma syndromes, exome sequencing, and a protean puzzle.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4274952

Parallel sequencing used in detection of mosaic mutations: comparison with four diagnostic DNA screening techniques.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4274952

26 October 2018

Identifiers

DOI

10.1056/NEJMOA1314432

1 reference

4 August 2017

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4 August 2017

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