(Q37642944)

21 August 2017

A novel clinician interface to improve clinician access to up-to-date genetic results (English)

1 reference

21 August 2017

Heidi L Rehm

9

0 references

Lynn A Volk

3

object named as

Lynn A Volk

1 reference

21 August 2017

10

David W Bates

1 reference

21 August 2017

Allison R Wilcox

1

1 reference

21 August 2017

Pamela M Neri

2

1 reference

21 August 2017

Lisa P Newmark

4

1 reference

21 August 2017

Eugene H Clark

5

1 reference

21 August 2017

Lawrence J Babb

6

1 reference

21 August 2017

Matthew Varugheese

7

1 reference

21 August 2017

Samuel J Aronson

8

1 reference

21 August 2017

7 September 2013

1 reference

Journal of the American Medical Informatics Association

21 August 2017

1 reference

21 August 2017

21

1 reference

21 August 2017

e1

1 reference

21 August 2017

e117-21

1 reference

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

21 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3957398

Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3957398

Usability of a novel clinician interface for genetic results

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3957398

Communicating new knowledge on previously reported genetic variants

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3957398

Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3957398

Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3957398

The GeneInsight Suite: a platform to support laboratory and provider use of DNA-based genetic testing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3957398

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3957398

Inherited susceptibility to common cancers

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3957398

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3957398

Lack of MEF2A mutations in coronary artery disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3957398

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3957398

Glycogen storage diseases presenting as hypertrophic cardiomyopathy.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3957398

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

1 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24013137

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/AMIAJNL-2013-001965

1 reference

21 August 2017

1 reference

21 August 2017

1 reference