(Q33906483)

29 July 2017

title

Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research (English)

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29 July 2017

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28

Barbara E Stranger

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25

Peter N Robinson

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Melissa Haendel

4

Melissa A Haendel

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Stephen F Kingsmore

Stephen Kingsmore

18

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Leslie G Biesecker

6

Leslie G Biesecker

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9

Eric D Green

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16

Nancy J Cox

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Teri A Manolio

1

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Carol J Bult

31

Carol Bult

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27

Christine Seidman

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30

Monte Westerfield

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12

Dan Roden

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14

Marc S Williams

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8

Rex L Chisholm

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11

Howard L McLeod

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29 July 2017

Laura Lyman Rodriguez

13

Laura Lyman Rodriguez

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24

Erin M Ramos

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22

Robert L Nussbaum

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29 July 2017

Douglas M Fowler

2

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Lea M Starita

3

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Daniel G MacArthur

5

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Elizabeth Worthey

7

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Howard J Jacob

10

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Gregory M Cooper

15

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Gail E Herman

17

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Cecilia Lo

19

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Cathleen Lutz

20

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Calum A MacRae

21

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Jose M Ordovas

23

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Wendy S Rubinstein

26

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Haoyi Wang

29

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29 July 2017

language of work or name

English

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publication date

1 March 2017

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29 July 2017

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29 July 2017

volume

169

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29 July 2017

issue

1

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29 July 2017

page(s)

6-12

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Somatic cancer variant curation and harmonization through consensus minimum variant level data

29 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5511379

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5511379

The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5511379

Quantifying prion disease penetrance using large population control cohorts

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5511379

ClinVar: public archive of interpretations of clinically relevant variants

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5511379

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5511379

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5511379

Massively Parallel Functional Analysis of BRCA1 RING Domain Variants

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5511379

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5511379

Molecular findings among patients referred for clinical whole-exome sequencing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5511379

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5511379

Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5511379

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5511379

Controlling complexity: the clinical relevance of mouse complex genetics

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5511379

5 July 2018

CRISPR, the disruptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5511379

10.1016/J.CELL.2017.03.005

29 October 2018

Identifiers

DOI

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29 July 2017

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29 July 2017

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