(Q35776062)

English

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

scientific article published on 27 April 2015

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

whole genome sequencing

1 reference

based on heuristic

inferred from title

object named as

Julie A Cakici

8

0 references

object named as

Laurel K Willig

1

0 references

Stephen F Kingsmore

object named as

Stephen F Kingsmore

24

0 references

Mark A Clements

15

object named as

Mark A Clements

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

Isabelle Thiffault

5

object named as

Isabelle Thiffault

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

6

object named as

Neil A Miller

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

Mitchell P Creed

12

object named as

Mitchell Creed

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

23

object named as

Emily G Farrow

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

author name string

Josh E Petrikin

2

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

Laurie D Smith

3

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

Carol J Saunders

4

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

Sarah E Soden

7

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

Suzanne M Herd

9

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

Greyson Twist

10

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

Aaron Noll

11

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

Patria M Alba

13

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

Shannon L Carpenter

14

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

Ryan T Fischer

16

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

J Allyson Hays

17

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

Howard Kilbride

18

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

Ryan J McDonough

19

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

Jamie L Rosterman

20

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

Sarah L Tsai

21

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

Lee Zellmer

22

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

publication date

27 April 2015

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

The Lancet. Respiratory medicine

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

377-387

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

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=4479194

27 July 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=4479194

27 July 2018

From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479194

27 July 2018

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479194

27 July 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=4479194

27 July 2018

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479194

27 July 2018

Diagnostic clinical genome and exome sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479194

27 July 2018

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479194

27 July 2018

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479194

27 July 2018

New approaches to prevent LEOPARD syndrome-associated cardiac hypertrophy by specifically targeting Shp2-dependent signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479194

27 July 2018

Maternal and neonatal separation and mortality associated with concurrent admissions to intensive care units

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479194

27 July 2018

Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479194

27 July 2018

Exome sequencing can improve diagnosis and alter patient management

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479194

27 July 2018

Clinical application of exome sequencing in undiagnosed genetic conditions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479194

27 July 2018

Ontological phenotype standards for neurogenetics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479194

27 July 2018

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479194

27 July 2018

Human genome sequencing in health and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479194

27 July 2018

Clan genomics and the complex architecture of human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479194

27 July 2018

Whole-genome sequencing for optimized patient management

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479194

27 July 2018

Deep sequencing of patient genomes for disease diagnosis: when will it become routine?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479194

27 July 2018

Charting a course for genomic medicine from base pairs to bedside

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479194

27 July 2018

Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479194

27 July 2018

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479194

27 July 2018

Enhancing the quality and efficiency of newborn screening programs through the use of health information technology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479194

27 July 2018

Fast and SNP-tolerant detection of complex variants and splicing in short reads

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479194

27 July 2018

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479194

27 July 2018

Genetic disorders and congenital malformations in pediatric long-term care

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479194

27 July 2018

Death in the neonatal intensive care unit: changing patterns of end of life care over two decades.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479194

27 July 2018

Contribution of birth defects and genetic diseases to pediatric hospitalizations. A population-based study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479194

27 July 2018

Preterm birth: now the leading cause of child death worldwide

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479194

25 September 2018

Molecular findings among patients referred for clinical whole-exome sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479194

25 September 2018

Clinical whole exome sequencing in child neurology practice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479194

25 September 2018

Estimating a ranked list of human hereditary diseases for clinical phenotypes by using weighted bipartite network.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479194

25 September 2018

The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479194

25 September 2018

Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479194

25 September 2018

Costs and end-of-life care in the NICU: lessons for the MICU?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479194

25 September 2018

Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479194

25 September 2018

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479194

25 September 2018

Postmortem findings in term neonates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479194

25 September 2018

Inborn errors of metabolism in a neonatology unit: impact and long-term results

1 reference

https://api.crossref.org/works/10.1016%2FS2213-2600%2815%2900139-3

7 January 2021

based on heuristic

inferred from DOI database lookup

How infants die in the neonatal intensive care unit: trends from 1999 through 2008

1 reference

https://api.crossref.org/works/10.1016%2FS2213-2600%2815%2900139-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Deaths in a neonatal intensive care unit: a 10-year perspective

1 reference

https://api.crossref.org/works/10.1016%2FS2213-2600%2815%2900139-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Causes and circumstances of neonatal deaths in 108 consecutive cases over a 10-year period at the Children's Hospital of Lucerne, Switzerland

1 reference

https://api.crossref.org/works/10.1016%2FS2213-2600%2815%2900139-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Contribution of malformations and genetic disorders to mortality in a children's hospital

1 reference

https://api.crossref.org/works/10.1016%2FS2213-2600%2815%2900139-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Proportion of malformations and genetic disorders among cases encountered at a high-care unit in a children's hospital

1 reference

https://api.crossref.org/works/10.1016%2FS2213-2600%2815%2900139-3

7 January 2021

based on heuristic

inferred from DOI database lookup

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

1 reference

https://api.crossref.org/works/10.1016%2FS2213-2600%2815%2900139-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Technical standards and guidelines: molecular genetic testing for ultra-rare disorders

1 reference

https://api.crossref.org/works/10.1016%2FS2213-2600%2815%2900139-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Points to consider in the clinical application of genomic sequencing

1 reference

https://pubmed.ncbi.nlm.nih.gov/25937001

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/S2213-2600(15)00139-3

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

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=Q35776062&oldid=2090691794"