(Q24296941)

GOA release 2020-03-11

author

Nenad Sestan

30

0 references

Kenneth Y. Kwan

object named as

Kenneth Y Kwan

4

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Katsuhito Yasuno

object named as

Katsuhito Yasuno

14

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Stephan J. Sanders

object named as

Stephan Sanders

16

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author name string

Kaya Bilgüvar

1

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Ali Kemal Oztürk

2

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Angeliki Louvi

3

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Murim Choi

5

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Burak Tatli

6

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Dilek Yalnizoğlu

7

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Beyhan Tüysüz

8

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Ahmet Okay Cağlayan

9

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Sarenur Gökben

10

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Hande Kaymakçalan

11

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Tanyeri Barak

12

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Mehmet Bakircioğlu

13

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Winson Ho

15

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Ying Zhu

17

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Sanem Yilmaz

18

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Alp Dinçer

19

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Michele H Johnson

20

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Richard A Bronen

21

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Naci Koçer

22

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Hüseyin Per

23

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Shrikant Mane

24

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Mehmet Necmettin Pamir

25

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Cengiz Yalçinkaya

26

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Sefer Kumandaş

27

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Meral Topçu

28

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Meral Ozmen

29

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Richard P Lifton

31

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Matthew W State

32

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Murat Günel

Exome sequencing identifies the cause of a mendelian disorder

33

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language of work or name

English

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publication date

9 September 2010

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published in

Nature

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volume

467

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page(s)

207-10

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issue

7312

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cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129007

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129007

Targeted capture and massively parallel sequencing of 12 human exomes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129007

Fast and accurate short read alignment with Burrows-Wheeler transform

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129007

Mapping short DNA sequencing reads and calling variants using mapping quality scores

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129007

PLINK: a tool set for whole-genome association and population-based linkage analyses

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129007

A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129007

The Sequence Alignment/Map format and SAMtools

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129007

Evolution of the neocortex: a perspective from developmental biology

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129007

Genetic malformations of the cerebral cortex and epilepsy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129007

A novel c-Jun N-terminal kinase (JNK)-binding protein WDR62 is recruited to stress granules and mediates a nonclassical JNK activation.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129007

Primary microcephaly: do all roads lead to Rome?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129007

Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129007

Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129007

Development of the human cerebral cortex: Boulder Committee revisited

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129007

A developmental and genetic classification for malformations of cortical development

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129007

Epilepsy and genetic malformations of the cerebral cortex

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129007

Molecular genetics of human microcephaly

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129007

The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129007

Classification system for malformations of cortical development: update 2001.

30 May 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE09327

Transcriptome and proteome analysis of early embryonic mouse brain development.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129007

Summaries of Affymetrix GeneChip probe level data

29 November 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE09327

7 January 2021

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

1 reference

https://api.crossref.org/works/10.1038%2FNATURE09327

7 January 2021

Developmentally regulated and evolutionarily conserved expression of SLITRK1 in brain circuits implicated in Tourette syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNATURE09327

7 January 2021

Sequence variants in SLITRK1 are associated with Tourette's syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNATURE09327

7 January 2021

SOX5 postmitotically regulates migration, postmigratory differentiation, and projections of subplate and deep-layer neocortical neurons

1 reference

https://api.crossref.org/works/10.1038%2FNATURE09327

7 January 2021

Identifiers

DOI

10.1038/NATURE09327

1 reference

Dimensions Publication ID

129107

1046334060

0 references

129107

1 reference

1 reference

1 reference