(Q30002401)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24074861%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

title

A nondegenerate code of deleterious variants in Mendelian loci contributes to complex disease risk (English)

1 reference

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23 February 2020

10

1 reference

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23 February 2020

David Blair

1

1 reference

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23 February 2020

Hossein Khiabanian

6

1 reference

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23 February 2020

Rachel D Melamed

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24074861%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Raúl Rabadán

8

1 reference

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23 February 2020

Dan L. Nicolae

12

1 reference

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23 February 2020

Robert Lee Grossman

14

1 reference

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23 February 2020

Andrey Rzhetsky

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24074861%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

11

Lars Juhl Jensen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24074861%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

15

Nancy J Cox

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24074861%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

author name string

Christopher S Lyttle

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24074861%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Jonathan M Mortensen

3

1 reference

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23 February 2020

Charles F Bearden

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24074861%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Anders Boeck Jensen

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24074861%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Elmer V Bernstam

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24074861%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Nigam H Shah

13

1 reference

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23 February 2020

Kevin P White

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24074861%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

language of work or name

English

0 references

publication date

1 September 2013

1 reference

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23 February 2020

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24074861%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

volume

155

1 reference

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23 February 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24074861%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

page(s)

70-80

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24074861%20AND%20SRC:MED&resulttype=core&format=json

Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis

23 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

Highly recurrent TERT promoter mutations in human melanoma

22 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

TERT promoter mutations in familial and sporadic melanoma

22 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

22 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

De Novo Gene Disruptions in Children on the Autistic Spectrum

22 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

Sortilin as a regulator of lipoprotein metabolism

22 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

Five years of GWAS discovery

22 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

22 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

22 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

Finding the missing heritability of complex diseases

22 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

A dynamic network approach for the study of human phenotypes

22 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

The implications of human metabolic network topology for disease comorbidity

22 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

22 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

The neighbor-joining method: a new method for reconstructing phylogenetic trees

22 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal

22 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

Using whole-exome sequencing to identify inherited causes of autism

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

Clinics, epidemiology and genetics of retinitis pigmentosa

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

Administrative database research has unique characteristics that can risk biased results

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

Clan genomics and the complex architecture of human disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

Prioritizing candidate disease genes by network-based boosting of genome-wide association data.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

Modifier genes in Mendelian disorders: the example of cystic fibrosis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

Plasma cytokine profiles in Fragile X subjects: is there a role for cytokines in the pathogenesis?

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

A mouse model of the human Fragile X syndrome I304N mutation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

Examination of all type 2 diabetes GWAS loci reveals HHEX-IDE as a locus influencing pediatric BMI.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

SCAN: SNP and copy number annotation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

Dyskeratosis congenita, stem cells and telomeres

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

Elevated glycogen synthase kinase-3 activity in Fragile X mice: key metabolic regulator with evidence for treatment potential.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

Recurrent 16p11.2 microdeletions in autism

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

Probing genetic overlap among complex human phenotypes.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

Neurodegenerative disorders associated with diabetes mellitus

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

Beyond Mendel: an evolving view of human genetic disease transmission

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

Estimating crude or common odds ratios in case-control studies with informatively missing exposure data

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

Genetic factors in the pathogenesis of breast cancer: their role and relative importance

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

Lujan-Fryns syndrome in the differential diagnosis of schizophrenia

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

A point mutation in the FMR-1 gene associated with fragile X mental retardation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

Increased frequency of diabetes mellitus in patients with Huntington's chorea

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

Insulin dependent diabetes in thalassaemia

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

Linkage strategies for genetically complex traits. I. Multilocus models

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

Genetic interactions and modifier genes in Hirschsprung's disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

A de novo paradigm for mental retardation.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

Mutations of the Nogo-66 receptor (RTN4R) gene in schizophrenia.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844554

10.1016/J.CELL.2013.08.030

26 November 2018

Identifiers

DOI

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24074861%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24074861%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

PubMed publication ID

24074861

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24074861%20AND%20SRC:MED&resulttype=core&format=json