(Q95933932)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

title

The mutational constraint spectrum quantified from variation in 141,456 humans (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Laurent C Francioli

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Jessica Alfoldi

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Qingbo Wang

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Ryan L Collins

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Raymond K Walters

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Yossi Farjoun

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Kaitlin E Samocha

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Anne H O'Donnell-Luria

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

James Ware

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Irina Armean

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Michael E. Talkowski

62

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Benjamin M. Neale

64

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Daniel G. MacArthur

66

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Andrea Ganna

9

0 references

Mark Joseph Daly

65

object named as

Mark J Daly

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

55

Valentin Ruano-Rubio

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

23

Eric Banks

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

11

Laura D Gauthier

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

47

Namrata Gupta

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

3

Grace Tiao

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

12

Harrison Brand

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

14

Nicholas A Watts

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

13

Matthew Solomonson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

51

Ruchi Munshi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

8

Kristen M Laricchia

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

0 references

Beryl B Cummings

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Daniel P Birnbaum

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Daniel Rhodes

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Moriel Singer-Berk

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Eleina M England

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Eleanor G Seaby

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Jack A Kosmicki

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Katherine Tashman

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Timothy Poterba

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Arcturus Wang

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Cotton Seed

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Nicola Whiffin

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Jessica X Chong

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Emma Pierce-Hoffman

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Zachary Zappala

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Eric Vallabh Minikel

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Ben Weisburd

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Monkol Lek

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Christopher Vittal

37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Louis Bergelson

39

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Kristian Cibulskis

40

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Kristen M Connolly

41

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Miguel Covarrubias

42

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Stacey Donnelly

43

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Steven Ferriera

44

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Stacey Gabriel

45

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Jeff Gentry

46

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Thibault Jeandet

48

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Diane Kaplan

49

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Christopher Llanwarne

50

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Sam Novod

52

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Nikelle Petrillo

53

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

David Roazen

54

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Andrea Saltzman

56

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Molly Schleicher

57

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Jose Soto

58

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Kathleen Tibbetts

59

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Charlotte Tolonen

60

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Gordon Wade

61

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Genome Aggregation Database Consortium

63

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

language of work or name

English

0 references

publication date

27 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

volume

581

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

issue

7809

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

page(s)

434-443

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461654%20AND%20SRC:MED&resulttype=core&format=json

A systematic survey of loss-of-function variants in human protein-coding genes

31 May 2020

cites work

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

Using next-generation sequencing to isolate mutant genes from forward genetic screens

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

Knockouts model the 100 best-selling drugs--will they model the next 100?

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

Analysis of protein-coding genetic variation in 60,706 humans

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

Sequence variations in PCSK9, low LDL, and protection against coronary heart disease

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

A framework for the interpretation of de novo mutation in human disease

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

Correction: Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes.

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

Estimating the selective effects of heterozygous protein-truncating variants from human exome data.

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

A structural variation reference for medical and population genetics

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

Evaluating drug targets through human loss-of-function genetic variation

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

The effect of LRRK2 loss-of-function variants in humans

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

Genetic effects on gene expression across human tissues

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

Transcript expression-aware annotation improves rare variant interpretation

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

Parental influence on human germline de novo mutations in 1,548 trios from Iceland

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

MouseMine: a new data warehouse for MGI.

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

The Mouse Genome Database (MGD): facilitating mouse as a model for human biology and disease

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

Evaluation and Design of Genome-Wide CRISPR/SpCas9 Knockout Screens.

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

Comprehensive Analysis of Tissue-wide Gene Expression and Phenotype Data Reveals Tissues Affected in Rare Genetic Disorders.

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

When Is Selection Effective?

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

Estimating the mutation load in human genomes

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

Mendelian Gene Discovery: Fast and Furious with No End in Sight

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

Settling the score: variant prioritization and Mendelian disease.

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study.

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease.

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

Analysis of large-scale sequencing cohorts does not support the role of variants in UCP2 as a cause of hyperinsulinaemic hypoglycaemia.

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

Predicting the clinical impact of human mutation with deep neural networks

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

Evidence for Weak Selective Constraint on Human Gene Expression

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

Genetic compensation triggered by mutant mRNA degradation

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

CRISPR-Cas9-based mutagenesis frequently provokes on-target mRNA misregulation

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

Accurate classification of BRCA1 variants with saturation genome editing

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

De novo mutations in regulatory elements in neurodevelopmental disorders.

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

Clinical use of current polygenic risk scores may exacerbate health disparities

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

Measuring intolerance to mutation in human genetics

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

UMAP: Uniform Manifold Approximation and Projection

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

UMAP reveals cryptic population structure and phenotype heterogeneity in large genomic cohorts

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

Partitioning heritability by functional annotation using genome-wide association summary statistics

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

A synthetic-diploid benchmark for accurate variant-calling evaluation

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

De novo mutations in schizophrenia implicate synaptic networks

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021

Patterns and rates of exonic de novo mutations in autism spectrum disorders

1 reference

https://api.crossref.org/works/10.1038%2FS41586-020-2308-7

7 January 2021