Clinical exome sequencing for genetic identification of rare Mendelian disorders (Q34782655)

4 August 2017

title

Clinical exome sequencing for genetic identification of rare Mendelian disorders (English)

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4 August 2017

10

Michael Yourshaw

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4 August 2017

Derek A Wong

14

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Stanley F Nelson

21

object named as

Stanley F Nelson

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4 August 2017

Hane Lee

1

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4 August 2017

Joshua L Deignan

2

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4 August 2017

Naghmeh Dorrani

3

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Samuel P Strom

4

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Sibel Kantarci

5

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Fabiola Quintero-Rivera

6

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Kingshuk Das

7

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Traci Toy

8

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4 August 2017

Bret Harry

9

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4 August 2017

Michelle Fox

11

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Brent L Fogel

12

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Julian A Martinez-Agosto

13

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4 August 2017

Vivian Y Chang

15

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4 August 2017

Perry B Shieh

16

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Christina G S Palmer

17

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Katrina M Dipple

18

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Wayne W Grody

19

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Eric Vilain

20

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4 August 2017

language of work or name

English

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publication date

1 November 2014

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The Journal of the American Medical Association

4 August 2017

published in

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4 August 2017

volume

312

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4 August 2017

issue

18

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4 August 2017

page(s)

1880-1887

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Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia

4 August 2017

cites work

1 reference

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Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results

7 July 2018

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Attitudes of genetics professionals toward the return of incidental results from exome and whole-genome sequencing

7 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4278636

Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations

7 July 2018

1 reference

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De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4278636

Guidelines for investigating causality of sequence variants in human disease

7 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4278636

De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy

7 July 2018

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Rich annotation of DNA sequencing variants by leveraging the Ensembl Variant Effect Predictor with plugins.

7 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4278636

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4278636

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

7 July 2018

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A systematic approach to assessing the clinical significance of genetic variants.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4278636

ACMG recommendations on incidental findings are flawed scientifically and ethically

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4278636

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4278636

Not-so-incidental findings: the ACMG recommendations on the reporting of incidental findings in clinical whole genome and whole exome sequencing

7 July 2018

1 reference

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American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing

7 July 2018

1 reference

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Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

7 July 2018

1 reference

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Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4278636

Next-generation sequencing for clinical diagnostics

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4278636

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4278636

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

9 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25326637

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

UPD detection using homozygosity profiling with a SNP genotyping microarray

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25326637

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1001/JAMA.2014.14604

1 reference

4 August 2017

1 reference

4 August 2017

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