(Q55036822)

16 June 2018

title

De novo mutations in regulatory elements in neurodevelopmental disorders. (English)

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16 June 2018

neurodevelopmental disorder

main subject

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7

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16 June 2018

David R. FitzPatrick

David R FitzPatrick

9

0 references

Daniel Geschwind

6

Daniel H Geschwind

1 reference

16 June 2018

Helen V. Firth

8

Helen V Firth

1 reference

16 June 2018

Jeffrey C Barrett

10

Jeffrey C Barrett

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16 June 2018

author name string

Patrick J Short

1

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16 June 2018

Jeremy F McRae

2

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16 June 2018

Giuseppe Gallone

3

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16 June 2018

Alejandro Sifrim

4

1 reference

16 June 2018

Hyejung Won

5

1 reference

16 June 2018

Matthew E Hurles

11

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16 June 2018

language of work or name

English

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publication date

21 March 2018

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16 June 2018

published in

Nature

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16 June 2018

volume

555

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16 June 2018

issue

7698

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16 June 2018

page(s)

611-616

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16 June 2018

https://scigraph.springernature.com/pub.10.1038/nature25983

exact match

0 references

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Prevalence and architecture of de novo mutations in developmental disorders

16 June 2018

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16 June 2018

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16 June 2018

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16 June 2018

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16 June 2018

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16 June 2018

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16 June 2018

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16 June 2018

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16 June 2018

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16 June 2018

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Alterations to the remote control of Shh gene expression cause congenital abnormalities

16 June 2018

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16 June 2018

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16 June 2018

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16 June 2018

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16 June 2018

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16 June 2018

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16 June 2018

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16 June 2018

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16 June 2018

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16 June 2018

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16 June 2018

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16 June 2018

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Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein

16 June 2018

1 reference

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16 June 2018

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16 June 2018

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16 June 2018

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16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5912909

Mutations in PTF1A cause pancreatic and cerebellar agenesis

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5912909

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16 June 2018

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A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5912909

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5912909

Fine-scale recombination rate differences between sexes, populations and individuals

13 August 2018

1 reference

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Predicting the errors of predicted local backbone angles and non-local solvent- accessibilities of proteins by deep neural networks.

13 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNATURE25983

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NATURE25983

1 reference

16 June 2018

Dimensions Publication ID

0 references

1 reference

16 June 2018

PubMed publication ID

29562236

1 reference

16 June 2018