(Q42034043)

English

A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity

scientific article published on 16 October 2014

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity (English)

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

type 2 diabetes

1 reference

based on heuristic

inferred from title

Bardet-Biedl syndrome

1 reference

based on heuristic

inferred from title

Nicholas Katsanis

13

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

object named as

Elaine T Lim

1

0 references

10

object named as

Leif Groop

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Mark Joseph Daly

14

object named as

Mark J Daly

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Joel Hirschhorn

12

object named as

Joel N Hirschhorn

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

David Altshuler

8

object named as

David M Altshuler

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

3

object named as

Yingleong Chan

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

11

object named as

Jason Flannick

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Soumya Raychaudhuri

9

object named as

Soumya Raychaudhuri

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

author name string

Yangfan P Liu

2

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Tuomi Tiinamaija

4

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

AnnMari Käräjämäki

5

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Erik Madsen

6

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Go-T2D Consortium

7

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Europe PubMed Central

PMC publication ID

15 October 2017

language of work or name

0 references

publication date

16 October 2014

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Europe PubMed Central

PMC publication ID

15 October 2017

American Journal of Human Genetics

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Europe PubMed Central

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15 October 2017

95

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Europe PubMed Central

PMC publication ID

15 October 2017

5

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

509-520

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Distribution and medical impact of loss-of-function variants in the Finnish founder population

1 reference

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5 June 2018

Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators

1 reference

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5 June 2018

An excess of risk-increasing low-frequency variants can be a signal of polygenic inheritance in complex diseases

1 reference

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5 June 2018

The NHGRI GWAS Catalog, a curated resource of SNP-trait associations

1 reference

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Intellectual disability is associated with increased runs of homozygosity in simplex autism

1 reference

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1 reference

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GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease

1 reference

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Using whole-exome sequencing to identify inherited causes of autism

1 reference

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Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders

1 reference

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Glucose metabolism impacts the spatiotemporal onset and magnitude of HSC induction in vivo

1 reference

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5 June 2018

TREM2 Variants in Alzheimer's Disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225638

5 June 2018

Variant of TREM2 Associated with the Risk of Alzheimer's Disease

1 reference

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5 June 2018

zCall: a rare variant caller for array-based genotyping: genetics and population analysis

1 reference

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5 June 2018

Evidence of inbreeding depression on human height

1 reference

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5 June 2018

Bardet-Biedl syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225638

5 June 2018

Melanesian blond hair is caused by an amino acid change in TYRP1

1 reference

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5 June 2018

Runs of homozygosity implicate autozygosity as a schizophrenia risk factor

1 reference

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5 June 2018

Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225638

5 June 2018

Disease model distortion in association studies

1 reference

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5 June 2018

Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225638

5 June 2018

Nasu-Hakola disease: The first case reported by Nasu and review: The 50th Anniversary of Japanese Society of Neuropathology

1 reference

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5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225638

5 June 2018

A method and server for predicting damaging missense mutations

1 reference

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5 June 2018

Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy

1 reference

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5 June 2018

Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response

1 reference

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PLINK: a tool set for whole-genome association and population-based linkage analyses

1 reference

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Principal components analysis corrects for stratification in genome-wide association studies

1 reference

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BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225638

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Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

1 reference

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Distribution and intensity of constraint in mammalian genomic sequence

1 reference

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5 June 2018

The oligogenic properties of Bardet-Biedl syndrome

1 reference

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Identification and characterization of multi-species conserved sequences

1 reference

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Human susceptibility and resistance to Norwalk virus infection

1 reference

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Predicting deleterious amino acid substitutions

1 reference

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Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome

1 reference

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New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey

1 reference

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The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome

1 reference

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Nasu-Hakola disease with a splicing mutation of TREM2 in a Japanese family.

1 reference

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17 August 2018

Identifiers

10.1016/J.AJHG.2014.09.015

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

ResearchGate publication ID

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