(Q90371018)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30531870%20AND%20SRC:MED&resulttype=core&format=json

13 April 2020

title

A map of constrained coding regions in the human genome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30531870%20AND%20SRC:MED&resulttype=core&format=json

13 April 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30531870%20AND%20SRC:MED&resulttype=core&format=json

13 April 2020

Ryan M Layer

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30531870%20AND%20SRC:MED&resulttype=core&format=json

13 April 2020

Aaron R Quinlan

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30531870%20AND%20SRC:MED&resulttype=core&format=json

13 April 2020

author name string

Brent S Pedersen

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30531870%20AND%20SRC:MED&resulttype=core&format=json

13 April 2020

publication date

10 December 2018

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30531870%20AND%20SRC:MED&resulttype=core&format=json

13 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30531870%20AND%20SRC:MED&resulttype=core&format=json

13 April 2020

volume

51

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30531870%20AND%20SRC:MED&resulttype=core&format=json

13 April 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30531870%20AND%20SRC:MED&resulttype=core&format=json

13 April 2020

page(s)

88-95

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30531870%20AND%20SRC:MED&resulttype=core&format=json

Genic intolerance to functional variation and the interpretation of personal genomes

13 April 2020

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Substitution rate variation at human CpG sites correlates with non-CpG divergence, methylation level and GC content

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Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans

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Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

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7 January 2021

Exome-based linkage disequilibrium maps of individual genes: functional clustering and relationship to disease.

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7 January 2021

The genomic and functional characteristics of disease genes

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7 January 2021

Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes

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7 January 2021

Identifying a high fraction of the human genome to be under selective constraint using GERP++.

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7 January 2021

The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes

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7 January 2021

Low frequency of p57KIP2 mutation in Beckwith-Wiedemann syndrome

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7 January 2021

Imprinting disruption of the CDKN1C/KCNQ1OT1 domain: the molecular mechanisms causing Beckwith-Wiedemann syndrome and cancer.

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7 January 2021

The landscape of genomic imprinting across diverse adult human tissues

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7 January 2021

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7 January 2021

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

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7 January 2021

The KCNQ2 potassium channel: splice variants, functional and developmental expression. Brain localization and comparison with KCNQ3

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7 January 2021

KCNQ potassium channel mutations cause cardiac arrhythmias in Drosophila that mimic the effects of aging

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7 January 2021

Homeobox genes in embryogenesis and pathogenesis

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7 January 2021

Understanding alpha-globin gene regulation: Aiming to improve the management of thalassemia

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7 January 2021

PHD fingers in human diseases: disorders arising from misinterpreting epigenetic marks

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7 January 2021

PHD fingers: epigenetic effectors and potential drug targets

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7 January 2021

RAG2 PHD finger couples histone H3 lysine 4 trimethylation with V(D)J recombination

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7 January 2021

Essential role of eIF5A-1 and deoxyhypusine synthase in mouse embryonic development

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7 January 2021

Diagnostic exome sequencing in persons with severe intellectual disability

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7 January 2021

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

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7 January 2021

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

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7 January 2021

Large-scale discovery of novel genetic causes of developmental disorders

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7 January 2021

Prevalence and architecture of de novo mutations in developmental disorders

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7 January 2021

De novo mutations in epileptic encephalopathies

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7 January 2021

The contribution of de novo coding mutations to autism spectrum disorder

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7 January 2021

Synaptic, transcriptional and chromatin genes disrupted in autism

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7 January 2021

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7 January 2021

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

Large-scale gene function analysis with the PANTHER classification system

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7 January 2021

CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/30531870

12 December 2020

inferred from PubMed ID database lookup

Properties of human disease genes and the role of genes linked to Mendelian disorders in complex disease aetiology

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/30531870

12 December 2020

inferred from PubMed ID database lookup

Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/30531870

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1038/S41588-018-0294-6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30531870%20AND%20SRC:MED&resulttype=core&format=json

13 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30531870%20AND%20SRC:MED&resulttype=core&format=json

13 April 2020

PubMed publication ID

30531870

1 reference