(Q95933922)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461652%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

title

A structural variation reference for medical and population genetics (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461652%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

1 reference

1

1 reference

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31 May 2020

Konrad J. Karczewski

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461652%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Xuefang Zhao

4

1 reference

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31 May 2020

Jessica Alfoldi

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461652%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Laurent C Francioli

6

1 reference

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31 May 2020

Anne H O'Donnell-Luria

13

1 reference

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31 May 2020

Christopher W Whelan

17

1 reference

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31 May 2020

Elise Valkanas

22

1 reference

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31 May 2020

Kent D Taylor

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461652%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Stephen S Rich

35

1 reference

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31 May 2020

Jerome I Rotter

38

1 reference

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31 May 2020

Benjamin M. Neale

43

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461652%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Sekar Kathiresan

44

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461652%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Daniel G. MacArthur

47

1 reference

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31 May 2020

Michael E. Talkowski

48

1 reference

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31 May 2020

41

Eric Lander

1 reference

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31 May 2020

45

Mark J Daly

1 reference

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31 May 2020

37

Yii-Der Ida Chen

1 reference

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31 May 2020

26

Valentin Ruano-Rubio

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461652%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

46

Eric Banks

1 reference

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31 May 2020

9

Laura D Gauthier

1 reference

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31 May 2020

28

Namrata Gupta

1 reference

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31 May 2020

24

Grace Tiao

1 reference

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31 May 2020

2

Harrison Brand

1 reference

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31 May 2020

11

Nicholas A Watts

1 reference

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31 May 2020

12

Matthew Solomonson

1 reference

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31 May 2020

15

Ruchi Munshi

1 reference

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31 May 2020

25

Kristen M Laricchia

1 reference

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31 May 2020

36

Wendy S Post

1 reference

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31 May 2020

author name string

Amit V Khera

7

1 reference

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31 May 2020

Chelsea Lowther

8

1 reference

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31 May 2020

Harold Wang

10

1 reference

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31 May 2020

Alexander Baumann

14

1 reference

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31 May 2020

Mark Walker

16

1 reference

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31 May 2020

Yongqing Huang

18

1 reference

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31 May 2020

Ted Brookings

19

1 reference

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31 May 2020

Ted Sharpe

20

1 reference

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31 May 2020

Matthew R Stone

21

1 reference

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31 May 2020

Jack Fu

23

1 reference

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31 May 2020

Christine Stevens

27

1 reference

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31 May 2020

Caroline Cusick

29

1 reference

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31 May 2020

Lauren Margolin

30

1 reference

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31 May 2020

Genome Aggregation Database Production Team

31

1 reference

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31 May 2020

Genome Aggregation Database Consortium

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461652%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Henry J Lin

34

1 reference

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31 May 2020

Chad Nusbaum

39

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461652%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Anthony Philippakis

40

1 reference

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31 May 2020

Stacey Gabriel

42

1 reference

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31 May 2020

language of work or name

English

0 references

publication date

27 May 2020

1 reference

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31 May 2020

1 reference

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31 May 2020

volume

581

1 reference

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31 May 2020

issue

7809

1 reference

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31 May 2020

page(s)

444-451

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461652%20AND%20SRC:MED&resulttype=core&format=json

An integrated map of structural variation in 2,504 human genomes

31 May 2020

cites work

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7 January 2021

Copy number variation and evolution in humans and chimpanzees

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7 January 2021

Phenotypic impact of genomic structural variation: insights from and for human disease

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

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Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

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7 January 2021

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7 January 2021

The ExAC browser: displaying reference data information from over 60 000 exomes

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7 January 2021

Strong association of de novo copy number mutations with autism

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The landscape of somatic copy-number alteration across human cancers

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Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

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7 January 2021

The functional impact of structural variation in humans

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7 January 2021

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

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7 January 2021

Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline†

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7 January 2021

Comprehensive evaluation of structural variation detection algorithms for whole genome sequencing.

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7 January 2021

The impact of structural variation on human gene expression

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7 January 2021

Paternally inherited cis-regulatory structural variants are associated with autism.

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7 January 2021

Genomic Patterns of De Novo Mutation in Simplex Autism.

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7 January 2021

An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder.

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7 January 2021

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

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7 January 2021

Characterizing the Major Structural Variant Alleles of the Human Genome

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7 January 2021

Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation

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7 January 2021

Origins and functional impact of copy number variation in the human genome

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7 January 2021

On the number of segregating sites in genetical models without recombination

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7 January 2021

Human adaptation and evolution by segmental duplication

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7 January 2021

Selection in the evolution of gene duplications

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7 January 2021

Characterising and predicting haploinsufficiency in the human genome.

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7 January 2021

Patterns of genic intolerance of rare copy number variation in 59,898 human exomes

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7 January 2021

Formation of new chromatin domains determines pathogenicity of genomic duplications

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7 January 2021

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

1 reference

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7 January 2021

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

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7 January 2021

Fine Mapping Implicates a Deletion of CFHR1 and CFHR3 in Protection from IgA Nephropathy in Han Chinese.

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7 January 2021

Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis

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7 January 2021

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

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7 January 2021

Effects of pathogenic CNVs on physical traits in participants of the UK Biobank

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7 January 2021

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

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7 January 2021

Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation

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7 January 2021

Deep-coverage whole genome sequences and blood lipids among 16,324 individuals

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7 January 2021

A new initiative on precision medicine

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7 January 2021

UK biobank: an open access resource for identifying the causes of a wide range of complex diseases of middle and old age

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7 January 2021

ClinGen--the Clinical Genome Resource

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7 January 2021

Discovery and genotyping of structural variation from long-read haploid genome sequence data.

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7 January 2021

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7 January 2021

An integrated encyclopedia of DNA elements in the human genome

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7 January 2021

Genetic effects on gene expression across human tissues

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7 January 2021

10.1038/S41586-020-2287-8

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461652%20AND%20SRC:MED&resulttype=core&format=json

journals/nature/CollinsBKZAFKLG20

31 May 2020

DBLP publication ID

1 reference

DBLP Dataset 2021-01-02

28 January 2021

PMC publication ID

7334194

0 references

1 reference