(Q36714212)

15 August 2017

Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function (English)

1 reference

genome-wide association study

15 August 2017

0 references

author

Albert V. Smith

21

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161

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15 August 2017

96

Henry Völzke

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André Uitterlinden

101

Andre G Uitterlinden

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Cornelia M. van Duijn

148

Cornelia M van Duijn

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Anke Tönjes

34

Anke Tönjes

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Terho Lehtimäki

40

Terho Lehtimäki

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Alexander Teumer

4

Alexander Teumer

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Igor Rudan

153

Igor Rudan

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Eric Boerwinkle

59

Eric Boerwinkle

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Veronique Vitart

106

Veronique Vitart

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Andres Metspalu

134

Andres Metspalu

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Anna Köttgen

168

Anna Köttgen

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Mika Kähönen

112

Mika Kähönen

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Murielle Bochud

164

Murielle Bochud

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Mathias Gorski

13

Mathias Gorski

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Thomas Illig

73

Thomas Illig

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Lina Zgaga

76

Lina Zgaga

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Nicole Probst-Hensch

139

Nicole M Probst-Hensch

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Medea Imboden

47

Medea Imboden

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Gudny Eiriksdottir

57

Gudny Eiriksdottir

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Jorma Viikari

113

Jorma Viikari

1 reference

15 August 2017

Daniela Ruggiero

110

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Stefan Coassin

Stefan Coassin

48

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Christian Fuchsberger

Christian Fuchsberger

2

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Marina Ciullo

Marina Ciullo

130

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Karlhans Endlich

Karlhans Endlich

6

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Mladen Boban

Mladen Boban

78

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Benedicte Stengel

Bénédicte Stengel

109

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Helen M. Colhoun

Helen Colhoun

117

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Florian Kronenberg

Florian Kronenberg

140

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Braxton D. Mitchell

Braxton D Mitchell

58

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Colin Palmer

Colin Palmer

135

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Uwe Völker

Uwe Völker

95

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Tiit Nikopensius

114

Tiit Nikopensius

1 reference

15 August 2017

Man Li

11

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Paul Mitchell

129

Paul Mitchell

1 reference

15 August 2017

Ayse Demirkan

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Michael Stumvoll

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Michael Stumvoll

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15 August 2017

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Stella Trompet

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Sven Bergmann

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Sheila Ulivi

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Antonietta Robino

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Luigi Ferrucci

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Josef Coresh

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Lenore J Launer

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Tamara B Harris

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151

Yongmei Liu

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15 August 2017

100

Albert Hofman

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15 August 2017

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Wolfgang Koenig

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Ulf Gyllensten

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Zoltan Kutalik

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Peter Vollenweider

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David S Siscovick

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Sharon L R Kardia

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Ingrid B Borecki

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Michael Province

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Tatijana Zemunik

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Paul M Ridker

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Mary F Feitosa

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Daniel I Chasman

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Jacqueline C M Witteman

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Jacqueline Witteman

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Barry I Freedman

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J Wouter Jukema

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James F Wilson

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Frank Hu

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Harry Campbell

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Caroline S Fox

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Toshiko Tanaka

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Mariza de Andrade

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Elizabeth J Atkinson

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Cosetta Minelli

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Peter Kovacs

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Ben A Oostra

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Andre Franke

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Olli Raitakari

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Marilyn C Cornelis

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Sarah H Wild

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Peter P Pramstaller

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Kurt Lohman

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Nicole Glazer

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Alex Doney

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W H Linda Kao

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Asa Johansson

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Wellcome Trust Case Control Consortium 2

15 August 2017

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WTCCC2

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15 August 2017

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Carsten A Böger

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15 August 2017

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Audrey Y Chu

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Iris M Heid

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ICBP Consortium

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15 August 2017

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Georg Homuth

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Aaron Isaacs

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Franco Giulianini

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Matthias Nauck

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Daniel Taliun

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Adrienne Tin

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Matthias Olden

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Afshin Parsa

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Xiaoyi Gao

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Shamika Ketkar

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Margherita Cavalieri

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Wilmar Igl

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Ghazal Zaboli

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Gary C Curhan

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Bernhard Paulweber

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Nick Hastie

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Daniela Toniolo

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Jie Jin Wang

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Reiner Biffar

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Cristian Pattaro

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Ming-Huei Chen

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Claudia Hundertmark

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Conall M O'Seaghdha

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Maksim Struchalin

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Hinco J Gierman

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Elizabeth G Holliday

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Rossella Sorice

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Harshal Deshmukh

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Federico Murgia

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Giorgio Pistis

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15 August 2017

CARDIoGRAM consortium

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CARDIoGRAM Consortium

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15 August 2017

62

Madhumathi Rao

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Jingzhong Ding

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Jeanette S Andrews

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Ute Nöthlings

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Sylvia Stracke

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Catherine Helmer

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Gian-Andri Thun

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Margot Haun

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Cinzia Sala

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Mario Pirastu

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Ian Ford

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Rainer Rettig

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Shih-Jen Hwang

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Qiong Yang

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Andrew D Johnson

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15 August 2017

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Helena Schmidt

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Heyo K Kroemer

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Meredith C Foster

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15 August 2017

Ching-Ti Liu

20

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15 August 2017

Jeffrey R O'Connell

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Guo Li

25

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CARe Consortium

52

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Stephen T Turner

67

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Alan F Wright

84

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David Ellinghaus

86

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Gunnar Jacobs

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Florian Ernst

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Bernhard K Krämer

120

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Laura Portas

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Martin Adam

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Stuart K Kim

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Paolo Gasparini

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Reinhold Schmidt

145

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Brendan M Buckley

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15 August 2017

8 September 2012

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15 August 2017

Human Molecular Genetics

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15 August 2017

21

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24

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15 August 2017

5329-5343

1 reference

GWAtoolbox: an R package for fast quality control and handling of genome-wide association studies meta-analysis data

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Genetic association for renal traits among participants of African ancestry reveals new loci for renal function

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

A survey of the genetics of stomach, liver, and adipose gene expression from a morbidly obese cohort

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

A genome-wide association study of metabolic traits in human urine

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Genome partitioning of genetic variation for complex traits using common SNPs

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

CUBN is a gene locus for albuminuria

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Proteins encoded in genomic regions associated with immune-mediated disease physically interact and suggest underlying biology

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Role of TAPP1 and TAPP2 adaptor binding to PtdIns(3,4)P2 in regulating insulin sensitivity defined by knock-in analysis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Genome-wide association analyses of genetic, phenotypic, and environmental risks in the age-related eye disease study.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Gene expression in skin and lymphoblastoid cells: Refined statistical method reveals extensive overlap in cis-eQTL signals

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Hundreds of variants clustered in genomic loci and biological pathways affect human height

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

LocusZoom: regional visualization of genome-wide association scan results

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

METAL: fast and efficient meta-analysis of genomewide association scans

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Genetics and beyond--the transcriptome of human monocytes and disease susceptibility

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

New loci associated with kidney function and chronic kidney disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Genetic loci influencing kidney function and chronic kidney disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

GOSemSim: an R package for measuring semantic similarity among GO terms and gene products

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Proteinuria and events beyond the slit

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Geographical genomics of human leukocyte gene expression variation in southern Morocco

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Adult ceramide synthase 2 (CERS2)-deficient mice exhibit myelin sheath defects, cerebellar degeneration, and hepatocarcinomas

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Population genomics in a disease targeted primary cell model

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Common regulatory variation impacts gene expression in a cell type-dependent manner

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Multiple loci associated with indices of renal function and chronic kidney disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Genetic control of human brain transcript expression in Alzheimer disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Megalin and nonmuscle myosin heavy chain IIA interact with the adaptor protein Disabled-2 in proximal tubule cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Pathway analysis by adaptive combination of P-values

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Tissue-specific genetic control of splicing: implications for the study of complex traits

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Complex nature of SNP genotype effects on gene expression in primary human leucocytes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Mapping the genetic architecture of gene expression in human liver

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Prevalence of chronic kidney disease in population-based studies: systematic review

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Estimation of the multiple testing burden for genomewide association studies of nearly all common variants

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Genetics of gene expression and its effect on disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Podocytes use FcRn to clear IgG from the glomerular basement membrane

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Rationale, design, and methodology of the Women's Genome Health Study: a genome-wide association study of more than 25,000 initially healthy american women

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Prevalence of chronic kidney disease in the United States

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

A second generation human haplotype map of over 3.1 million SNPs

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

A genome-wide association study of global gene expression

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Population genomics of human gene expression

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

SCRAPPER-dependent ubiquitination of active zone protein RIM1 regulates synaptic vesicle release

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

A transcriptional profile of aging in the human kidney

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Statistical significance for genomewide studies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

K/DOQI clinical practice guidelines for chronic kidney disease: evaluation, classification, and stratification

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Identification of pleckstrin-homology-domain-containing proteins with novel phosphoinositide-binding specificities

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

The heterodimeric amino acid transporter 4F2hc/y+LAT2 mediates arginine efflux in exchange with glutamine

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

A more accurate method to estimate glomerular filtration rate from serum creatinine: a new prediction equation. Modification of Diet in Renal Disease Study Group

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Cloning of a new member of the TGF-beta family: a putative new activin beta C chain

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Associations of CFHR1-CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

On the utility of gene set methods in genomewide association studies of quantitative traits

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Genome-wide analysis of transcript isoform variation in humans

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

PLEKHA1-LOC387715-HTRA1 polymorphisms and exudative age-related macular degeneration in the French population.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Heritability of renal function in hypertensive families of African descent in the Seychelles (Indian Ocean).

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Genomewide linkage analysis to serum creatinine, GFR, and creatinine clearance in a community-based population: the Framingham Heart Study

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Predictors of new-onset kidney disease in a community-based population

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Calibration and random variation of the serum creatinine assay as critical elements of using equations to estimate glomerular filtration rate

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607468

Discovery of expression QTLs using large-scale transcriptional profiling in human lymphocytes

5 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22962313

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDS369

1 reference

15 August 2017

1 reference

15 August 2017

1 reference