(Q38376302)

2 September 2017

1 reference

title

Recommendations for the integration of genomics into clinical practice (English)

1 reference

2 September 2017

1 reference

1

1 reference

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5 June 2020

Adel Gilbert

2

1 reference

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5 June 2020

Emma Bedoukian

3

1 reference

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5 June 2020

Christopher Carew

4

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5 June 2020

Margaret P Adam

5

1 reference

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5 June 2020

Barbara A Bernhardt

7

1 reference

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5 June 2020

Leslie G Biesecker

8

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5 June 2020

Hans Bjornsson

9

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5 June 2020

Laurie Demmer

13

1 reference

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5 June 2020

Alison M Elliott

14

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5 June 2020

Gail P. Jarvik

23

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5 June 2020

Raymond H Kim

24

1 reference

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5 June 2020

Bruce R. Korf

25

1 reference

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5 June 2020

David H. Ledbetter

26

1 reference

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5 June 2020

M Stephen Meyn

31

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5 June 2020

Nasim Monfared

32

1 reference

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5 June 2020

Cynthia Morton

33

1 reference

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5 June 2020

Sharon E Plon

35

1 reference

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5 June 2020

Heidi L. Rehm

36

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5 June 2020

Nancy B Spinner

39

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5 June 2020

Kathleen Valverde

41

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5 June 2020

18

Lucia Hindorff

1 reference

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5 June 2020

6

John Belmont

1 reference

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5 June 2020

20

Louanne Hudgins

1 reference

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5 June 2020

21

A Micheil Innes

1 reference

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5 June 2020

author name string

Miriam Blitzer

10

1 reference

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5 June 2020

Lisa C A D'Alessandro

11

1 reference

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5 June 2020

Matthew A Deardorff

12

1 reference

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5 June 2020

Gerald L Feldman

15

1 reference

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5 June 2020

Ian A Glass

16

1 reference

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5 June 2020

Gail Herman

17

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5 June 2020

Fuki Hisama

19

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5 June 2020

Laird Jackson

22

1 reference

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5 June 2020

Mindy Li

27

1 reference

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5 June 2020

Eriskay Liston

28

1 reference

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5 June 2020

Christian Marshall

29

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5 June 2020

Livija Medne

30

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5 June 2020

John J Mulvihill

34

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5 June 2020

Amy Roberts

37

1 reference

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5 June 2020

Cheryl Shuman

38

1 reference

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5 June 2020

D James Stavropoulos

40

1 reference

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5 June 2020

Darrel J Waggoner

42

1 reference

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5 June 2020

Alisha Wilkens

43

1 reference

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5 June 2020

Ronald D Cohn

44

1 reference

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5 June 2020

Ian D Krantz

45

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27171546%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

language of work or name

English

0 references

publication date

12 May 2016

1 reference

2 September 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27171546%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

volume

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27171546%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

issue

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27171546%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

page(s)

1075-1084

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27171546%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/gim.2016.17

5 June 2020

exact match

0 references

cites work

ClinGen--the Clinical Genome Resource

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

6 September 2017

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

Overcoming the reimbursement barriers for clinical sequencing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

The challenge of informed consent and return of results in translational genomics: empirical analysis and recommendations

6 September 2017

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

6 September 2017

1 reference

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Diagnostic clinical genome and exome sequencing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

Models of consent to return of incidental findings in genomic research

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

Genome sequencing identifies major causes of severe intellectual disability

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

Guidelines for investigating causality of sequence variants in human disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine

6 September 2017

1 reference

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Return of results: ethical and legal distinctions between research and clinical care

6 September 2017

1 reference

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The genome clinic: a multidisciplinary approach to assessing the opportunities and challenges of integrating genomic analysis into clinical care.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

ACMG clinical laboratory standards for next-generation sequencing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

Stakeholders' opinions on the implementation of pediatric whole exome sequencing: implications for informed consent

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

Incidental variants are critical for genomics

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

PhenoTips: patient phenotyping software for clinical and research use.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

Informed consent for whole-genome sequencing studies in the clinical setting. Proposed recommendations on essential content and process

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

Implementing genomic medicine in the clinic: the future is here

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

Assuring the quality of next-generation sequencing in clinical laboratory practice

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

Leveraging the electronic health record to implement genomic medicine

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

The human phenotype ontology.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

Exome sequencing identifies the cause of a mendelian disorder

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

Targeted capture and massively parallel sequencing of 12 human exomes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

Report of the Banbury Summit Meeting on the evolving role of the medical geneticist, February 12-14, 2006.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

Study of somatic chromosomes from 9 mongoloid children

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

Whole-genome sequencing of quartet families with autism spectrum disorder

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

Informed consent for exome sequencing research in families with genetic disease: the emerging issue of incidental findings.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

Leading the way to genomic medicine.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

Clinical whole-exome sequencing: are we there yet?

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

Points to consider for informed consent for genome/exome sequencing.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

Elements of morphology: standard terminology for the external genitalia.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

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

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

Elements of morphology: standard terminology for the nose and philtrum.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

Elements of morphology: standard terminology for the ear.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

Elements of morphology: introduction.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

Elements of morphology: standard terminology for the head and face.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

Elements of morphology: standard terminology for the hands and feet.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

Elements of morphology: standard terminology for the lips, mouth, and oral region.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

THE CHROMOSOME NUMBER OF MAN

31 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FGIM.2016.17

ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5557020

Localization of the fibrillin (FBN) gene to chromosome 15, band q21.1

5 November 2018

1 reference

12 December 2020

Application of fluorescence in situ hybridization techniques in clinical genetics: use of two alphoid repeat probes detecting the centromeres of chromosomes 13 and 21 or chromosomes 14 and 22, respectively

1 reference

12 December 2020

Exome sequencing takes centre stage in cancer profiling

1 reference

12 December 2020

Implementing the elements of morphology in the American Journal of Medical Genetics

1 reference

12 December 2020

Points to consider in the clinical application of genomic sequencing

1 reference

12 December 2020

Genomics in clinical practice: lessons from the front lines

1 reference

12 December 2020

Editor's forward to special articles: elements of morphology

1 reference

12 December 2020

First steps in exploring prospective exome sequencing of consanguineous couples

1 reference

12 December 2020

Insurance companies are slow to cover next-generation sequencing

1 reference

12 December 2020

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.

1 reference

12 December 2020

Cytogenetic analysis by in situ hybridization with fluorescently labeled nucleic acid probes

1 reference

12 December 2020

Stem-cell therapy faces more scrutiny in China

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FGIM.2016.17

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/GIM.2016.17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27171546%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27171546%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

1 reference