(Q38392363)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25813238%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

review article

1 reference

title

The SickKids Genome Clinic: developing and evaluating a pediatric model for individualized genomic medicine (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25813238%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25813238%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

author name string

S C Bowdin

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25813238%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

R Z Hayeems

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25813238%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

N Monfared

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25813238%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

R D Cohn

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25813238%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

publication date

24 March 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25813238%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25813238%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

volume

89

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25813238%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25813238%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

page(s)

10-19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25813238%20AND%20SRC:MED&resulttype=core&format=json

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

3 March 2020

cites work

1 reference

Molecular findings among patients referred for clinical whole-exome sequencing

21 January 2018

1 reference

Clinical exome performance for reporting secondary genetic findings

21 January 2018

1 reference

Dealing with pseudogenes in molecular diagnostics in the next-generation sequencing era.

21 January 2018

1 reference

Genomic dark matter: the reliability of short read mapping illustrated by the genome mappability score

21 January 2018

1 reference

Detecting somatic mosaicism: considerations and clinical implications.

21 January 2018

1 reference

SIFT web server: predicting effects of amino acid substitutions on proteins

21 January 2018

1 reference

Performance of computational tools in evaluating the functional impact of laboratory-induced amino acid mutations

21 January 2018

1 reference

Integrating multiple genomic data to predict disease-causing nonsynonymous single nucleotide variants in exome sequencing studies

21 January 2018

1 reference

A guide for functional analysis of BRCA1 variants of uncertain significance

21 January 2018

1 reference

Automated validation of genetic variants from large databases: ensuring that variant references refer to the same genomic locations

21 January 2018

1 reference

Carrier testing for severe childhood recessive diseases by next-generation sequencing

21 January 2018

1 reference

Large numbers of genetic variants considered to be pathogenic are common in asymptomatic individuals

21 January 2018

1 reference

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

21 January 2018

1 reference

High burden of private mutations due to explosive human population growth and purifying selection

21 January 2018

1 reference

Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes

21 January 2018

1 reference

Beyond diagnostic accuracy: the clinical utility of diagnostic tests

21 January 2018

1 reference

Outcomes of interest in evidence-based evaluations of genetic tests

21 January 2018

1 reference

The EGAPP initiative: lessons learned

21 January 2018

1 reference

Predictive genetic testing for adult-onset disorders in minors: a critical analysis of the arguments for and against the 2013 ACMG guidelines.

21 January 2018

1 reference

Presymptomatic and predictive genetic testing in minors: a systematic review of guidelines and position papers

21 January 2018

1 reference

Recommendations for returning genomic incidental findings? We need to talk!

21 January 2018

1 reference

Return of individual research results and incidental findings: facing the challenges of translational science

21 January 2018

1 reference

Reflections on the cost of "low-cost" whole genome sequencing: framing the health policy debate

21 January 2018

1 reference

Illuminating the future of DNA sequencing

21 January 2018

1 reference

The cost-effectiveness of returning incidental findings from next-generation genomic sequencing

21 January 2018

1 reference

PhenoTips: patient phenotyping software for clinical and research use.

21 January 2018

1 reference

Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data

21 January 2018

1 reference

Savant Genome Browser 2: visualization and analysis for population-scale genomics

21 January 2018

1 reference

Clinical genomic database

21 January 2018

1 reference

Informed consent for whole genome sequencing: a qualitative analysis of participant expectations and perceptions of risks, benefits, and harms.

21 January 2018

1 reference

A timely arrival for genomic medicine

21 January 2018

1 reference

The duty to recontact: attitudes of genetics service providers.

21 January 2018

1 reference

How accurate can genetic predictions be?

21 January 2018

1 reference

The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience

21 January 2018

1 reference

The impact of reporting incidental findings from exome and whole-genome sequencing: predicted frequencies based on modeling

21 January 2018

1 reference

The predictive capacity of personal genome sequencing

21 January 2018

1 reference

Comparison of family history and SNPs for predicting risk of complex disease

21 January 2018

1 reference

Experimental designs for robust detection of effects in genome-wide case-control studies

21 January 2018

1 reference

Projecting the performance of risk prediction based on polygenic analyses of genome-wide association studies

21 January 2018

1 reference

Predictive Genomic Testing of Children for Adult Onset Disorders: A Canadian Perspective

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12579

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25813238%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

1 reference