(Q47200770)

http://europepmc.org/abstract/PMC/5947852

18 July 2018

title

Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study. (English)

1 reference

http://europepmc.org/abstract/PMC/5947852

18 July 2018

main subject

chronic renal insufficiency

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29204651%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Gianluca Caridi

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29204651%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Chad A Newton

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29204651%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Pietro A Canetta

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29204651%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

15

Anna Materna-Kiryluk

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29204651%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

30

Krzysztof Kiryluk

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29204651%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

author name string

Sneh Lata

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29204651%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Maddalena Marasa

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29204651%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

David A Fasel

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29204651%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Emily Groopman

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29204651%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Vaidehi Jobanputra

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29204651%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Hila Rasouly

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29204651%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Adele Mitrotti

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29204651%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Rik Westland

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29204651%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Miguel Verbitsky

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29204651%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Jordan Nestor

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29204651%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Lindsey M Slater

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29204651%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Vivette D'Agati

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29204651%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Marcin Zaniew

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29204651%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Francesca Lugani

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29204651%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Luca Rampoldi

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29204651%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Aditya Mattoo

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29204651%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Maya K Rao

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29204651%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Jai Radhakrishnan

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29204651%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Wooin Ahn

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29204651%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Andrew S Bomback

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29204651%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Gerald B Appel

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29204651%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Corinne Antignac

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29204651%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Glen S Markowitz

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29204651%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Christine K Garcia

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29204651%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Simone Sanna-Cherchi

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29204651%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Ali G Gharavi

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29204651%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

language of work or name

English

0 references

publication date

5 December 2017

1 reference

http://europepmc.org/abstract/PMC/5947852

18 July 2018

published in

Annals of Internal Medicine

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29204651%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

volume

168

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29204651%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29204651%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

page(s)

100-109

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29204651%20AND%20SRC:MED&resulttype=core&format=json

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

11 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

Exome Sequencing and the Management of Neurometabolic Disorders.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

Recommendations for the integration of genomics into clinical practice

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

ClinVar: public archive of interpretations of clinically relevant variants

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

Poly(A)-specific ribonuclease (PARN) mediates 3'-end maturation of the telomerase RNA component

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

Exome sequencing can improve diagnosis and alter patient management

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

Exome sequencing and the genetic basis of complex traits

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

Exome sequencing as a tool for Mendelian disease gene discovery

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

A method and server for predicting damaging missense mutations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

Prevalence of chronic kidney disease in the United States

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

Chronic kidney disease and the risks of death, cardiovascular events, and hospitalization

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

Rare Genetic Variants in PARN Are Associated with Pulmonary Fibrosis in Families.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

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

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN).

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

Carriers of Autosomal Recessive Alport Syndrome with Thin Basement Membrane Nephropathy Presenting as Focal Segmental Glomerulosclerosis in Later Life.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

Genomic imbalances in pediatric patients with chronic kidney disease

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

Clinical exome sequencing for genetic identification of rare Mendelian disorders

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

Familial clustering of ESRD in the Norwegian population

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

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

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

Genome sequencing identifies major causes of severe intellectual disability

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

A general framework for estimating the relative pathogenicity of human genetic variants

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

Genic intolerance to functional variation and the interpretation of personal genomes

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

Sequencing studies in human genetics: design and interpretation.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

Molecular genetic testing and the future of clinical genomics

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

Exome sequencing identifies the cause of a mendelian disorder

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

dbSNP: the NCBI database of genetic variation

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

Familial clustering of end-stage renal disease in blacks with lupus nephritis

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947852

Familial clustering of end-stage renal disease in blacks with HIV-associated nephropathy

2 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29204651

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29204651

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.7326/M17-1319

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29204651%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29204651%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

1 reference