(Q57640462)

7

object named as

Amalio Telenti

0 references

Rachana Sainger

4

object named as

Rachana Sainger

0 references

Ying-Chen Claire Hou

2

object named as

Ying-Chen Claire Hou

0 references

author name string

Naisha Shah

1

0 references

Hung-Chun Yu

3

0 references

C Thomas Caskey

American Journal of Human Genetics

5

0 references

language of work or name

English

0 references

publication date

5 April 2018

0 references

published in

0 references

volume

102

0 references

issue

4

0 references

page(s)

609-619

0 references

cites work

Settling the score: variant prioritization and Mendelian disease.

1 reference

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ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies

2 November 2018

1 reference

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A new era in the interpretation of human genomic variation.

2 November 2018

1 reference

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Sources of discordance among germ-line variant classifications in ClinVar

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985337

Using high-resolution variant frequencies to empower clinical genome interpretation.

2 November 2018

1 reference

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Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders

2 November 2018

1 reference

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Assessing the pathogenicity of RYR1 variants in malignant hyperthermia.

2 November 2018

1 reference

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Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.

2 November 2018

1 reference

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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

2 November 2018

1 reference

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Deep sequencing of 10,000 human genomes

2 November 2018

1 reference

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

2 November 2018

1 reference

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Genetic Misdiagnoses and the Potential for Health Disparities

2 November 2018

1 reference

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Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985337

Extensive sequencing of seven human genomes to characterize benchmark reference materials

2 November 2018

1 reference

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Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

2 November 2018

1 reference

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A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation.

2 November 2018

1 reference

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Medical implications of technical accuracy in genome sequencing

2 November 2018

1 reference

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Clinical Genomics: From Pathogenicity Claims to Quantitative Risk Estimates

2 November 2018

1 reference

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Exploring the landscape of pathogenic genetic variation in the ExAC population database: insights of relevance to variant classification

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985337

ClinVar: public archive of interpretations of clinically relevant variants

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985337

The promise and peril of genomic screening in the general population

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985337

ClinGen--the Clinical Genome Resource

2 November 2018

1 reference

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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

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985337

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

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985337

Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985337

Using exome data to identify malignant hyperthermia susceptibility mutations

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985337

Incidental findings in clinical genomics: a clarification

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985337

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985337

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

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985337

An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985337

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985337

Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985337

Clinical penetrance of C282Y homozygous HFE hemochromatosis

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985337

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985337

Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985337

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985337

Genotyping as a diagnostic aid in genetic haemochromatosis

30 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29625023

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Consistency of BRCA1 and BRCA2 Variant Classifications Among Clinical Diagnostic Laboratories

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29625023