Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics (Q35832872)

10 August 2017

Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics (English)

1 reference

10 August 2017

0 references

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25569433%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Kimberly Doheny

6

1 reference

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13 June 2020

author name string

Hua Ling

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25569433%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Kurt Hetrick

3

1 reference

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13 June 2020

Elizabeth Pugh

4

1 reference

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13 June 2020

Francois Schiettecatte

5

1 reference

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13 June 2020

Dimitri Avramopoulos

8

1 reference

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13 June 2020

David Valle

9

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13 June 2020

Nara Sobreira

10

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13 June 2020

Ada Hamosh

7

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13 June 2020

language of work or name

English

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publication date

8 January 2015

1 reference

10 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25569433%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

volume

17

1 reference

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13 June 2020

page(s)

782-788

1 reference

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13 June 2020

issue

10

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https://scigraph.springernature.com/pub.10.1038/gim.2014.196

13 June 2020

exact match

0 references

cites work

Return of genomic results to research participants: the floor, the ceiling, and the choices in between

1 reference

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4496331

ClinVar: public archive of relationships among sequence variation and human phenotype

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4496331

Actionable, pathogenic incidental findings in 1,000 participants' exomes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4496331

Genic intolerance to functional variation and the interpretation of personal genomes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4496331

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4496331

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4496331

PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4496331

An integrated map of genetic variation from 1,092 human genomes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4496331

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4496331

A framework for variation discovery and genotyping using next-generation DNA sequencing data

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4496331

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4496331

Mutations in myosin light chain kinase cause familial aortic dissections

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4496331

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4496331

Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4496331

Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4496331

The Sequence Alignment/Map format and SAMtools

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4496331

Fast and accurate short read alignment with Burrows-Wheeler transform

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4496331

Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4496331

Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4496331

Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4496331

Tumor suppressor genetics

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4496331

NCBI Reference Sequence (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins

11 July 2018

1 reference

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Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4496331

dbSNP: the NCBI database of genetic variation

11 July 2018

1 reference

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First evidence for digenic inheritance in hereditary colorectal cancer by mutations in the base excision repair genes.

11 July 2018

1 reference

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Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy

24 September 2018

1 reference

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Human Gene Mutation Database (HGMD): 2003 update.

24 September 2018

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24 September 2018

Identifiers

DOI

10.1038/GIM.2014.196

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25569433%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

13 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25569433%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

1 reference