Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. (Q38644619)

From Wikidata

Jump to navigation Jump to search

scientific article

Language	Label	Description	Also known as
English	Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.	scientific article

Statements

scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

whole genome sequencing

1 reference

based on heuristic

inferred from title

19

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

41

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

S. Mohsen Hosseini

6

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Michal Inbar-Feigenberg

25

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Jonathan D. Wasserman

42

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

52

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Stephen W. Scherer

54

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

8

object named as

Daniele Merico

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

O. Carter Snead III

38

0 references

Rosanna Weksberg

43

object named as

Rosanna Weksberg

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Anath C. Lionel

1

object named as

Anath C Lionel

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Rebekah Jobling

9

object named as

Rebekah Jobling

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

51

object named as

Sarah Bowdin

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

3

object named as

Nasim Monfared

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Thomas Nalpathamkalam

10

object named as

Thomas Nalpathamkalam

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Giovanna Pellecchia

11

object named as

Giovanna Pellecchia

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Michael J Szego

46

object named as

Michael J Szego

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Robin Z Hayeems

47

object named as

Robin Z Hayeems

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Cheryl Cytrynbaum

18

object named as

Cheryl Cytrynbaum

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

23

object named as

Stacy Hewson

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Jonathan Kronick

27

object named as

Jonathan Kronick

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Roberto Mendoza-Londono

32

object named as

Roberto Mendoza-Londono

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

44

object named as

Cheryl Shuman

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Komudi Siriwardena

37

object named as

Komudi Siriwardena

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

45

object named as

Chris Carew

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Christian Marshall

55

object named as

Christian R Marshall

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Gregory Costain

2

object named as

Gregory Costain

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

13

object named as

Zhuozhi Wang

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Wilson W L Sung

12

object named as

Wilson W L Sung

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Miriam S Reuter

5

object named as

Miriam S Reuter

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

author name string

Susan Walker

4

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Peter Bikangaga

14

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Cyrus Boelman

15

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Melissa T Carter

16

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Dawn Cordeiro

17

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Priya Dhir

20

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

James J Dowling

21

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Linda Hiraki

24

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Regan Klatt

26

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Ronald M Laxer

28

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Christoph Licht

29

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Heather MacDonald

30

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Saadet Mercimek-Andrews

31

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Tino Piscione

33

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Rayfel Schneider

34

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Andreas Schulze

35

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Earl Silverman

36

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Neal Sondheimer

39

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Joanne Sutherland

40

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Raveen Basran

48

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Dimitri J Stavropoulos

49

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Peter N Ray

50

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Ronald D Cohn

53

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Bhooma Thiruvahindrapuram

7

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Elise Heon

22

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

language of work or name

0 references

publication date

3 August 2017

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Genetics in Medicine

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

20

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

4

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

435-443

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

https://scigraph.springernature.com/pub.10.1038/gim.2017.119

0 references

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5895460

23 June 2018

A microcosting and cost-consequence analysis of clinical genomic testing strategies in autism spectrum disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5895460

23 June 2018

Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5895460

23 June 2018

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5895460

23 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5895460

23 June 2018

Clinical exome sequencing: results from 2819 samples reflecting 1000 families.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5895460

23 June 2018

Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5895460

23 June 2018

Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5895460

23 June 2018

Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5895460

23 June 2018

Findings made in gene panel to whole genome sequencing: data, knowledge, ethics - and consequences?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5895460

23 June 2018

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5895460

23 June 2018

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5895460

23 June 2018

Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5895460

23 June 2018

A specific mutation in TBL1XR1 causes Pierpont syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5895460

23 June 2018

ClinVar: public archive of interpretations of clinically relevant variants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5895460

23 June 2018

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5895460

23 June 2018

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5895460

23 June 2018

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5895460

23 June 2018

Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5895460

23 June 2018

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5895460

23 June 2018

The SickKids Genome Clinic: developing and evaluating a pediatric model for individualized genomic medicine.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5895460

23 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5895460

23 June 2018

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5895460

23 June 2018

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5895460

23 June 2018

Clinical exome sequencing for genetic identification of rare Mendelian disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5895460

23 June 2018

Genome sequencing identifies major causes of severe intellectual disability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5895460

23 June 2018

PhenoTips: patient phenotyping software for clinical and research use.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5895460

23 June 2018

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5895460

23 June 2018

Using ERDS to infer copy-number variants in high-coverage genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5895460

23 June 2018

CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5895460

23 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5895460

23 June 2018

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5895460

23 June 2018

Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5895460

23 June 2018

Parents perspectives on whole genome sequencing for their children: qualified enthusiasm?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5895460

31 August 2018

MED23-associated refractory epilepsy successfully treated with the ketogenic diet.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5895460

31 August 2018

Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5895460

31 August 2018

Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5895460

31 August 2018

Mutation analysis of the ornithine transcarbamylase (OTC) gene in five Japanese OTC deficiency patients revealed two known and three novel mutations including a deep intronic mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5895460

31 August 2018

Human Gene Mutation Database (HGMD): 2003 update.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5895460

31 August 2018

MitImpact: an exhaustive collection of pre-computed pathogenicity predictions of human mitochondrial non-synonymous variants.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.119

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/GIM.2017.119

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771251%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q38644619&oldid=1743748760"