(Q30300875)

16 October 2017

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

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16 October 2017

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66

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16 October 2017

71

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16 October 2017

Stephanie M Fullerton

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Stephanie M Fullerton

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Wylie Burke

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Wylie Burke

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16 October 2017

10

Daniel Seung Kim

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16 October 2017

73

Gail P Jarvik

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Kristy Lee

Kristy Lee

31

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Emily H Turner

Emily H Turner

18

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Ragan Hart

Ragan Hart

5

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Jerome I Rotter

47

Jerome I Rotter

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16 October 2017

40

Leslie G Biesecker

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16 October 2017

62

Benjamin Wilfond

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16 October 2017

32

Kent D Taylor

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16 October 2017

41

Steven A Lubitz

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16 October 2017

39

Robert J Desnick

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16 October 2017

54

Kathleen A Leppig

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16 October 2017

72

Debbie A Nickerson

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16 October 2017

1

Laura M Amendola

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16 October 2017

44

Steven Joffe

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16 October 2017

4

Joseph S Salama

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16 October 2017

6

Brian H Shirts

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16 October 2017

51

Nancy B Spinner

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16 October 2017

59

Holly K Tabor

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16 October 2017

70

Fuki M Hisama

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16 October 2017

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Jonathan S Berg

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16 October 2017

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William M Grady

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16 October 2017

Christopher J O'Donnell

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Christopher J O'Donnell

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16 October 2017

24

Andrew D Johnson

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16 October 2017

Michael O Dorschner

2

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16 October 2017

Peggy D Robertson

3

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16 October 2017

Mitzi L Murray

7

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16 October 2017

Mari J Tokita

8

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16 October 2017

Carlos J Gallego

9

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16 October 2017

James T Bennett

11

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16 October 2017

David R Crosslin

12

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16 October 2017

Jane Ranchalis

13

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16 October 2017

Kelly L Jones

14

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16 October 2017

Elisabeth A Rosenthal

15

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16 October 2017

Ella R Jarvik

16

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16 October 2017

Andy Itsara

17

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16 October 2017

Daniel S Herman

19

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16 October 2017

Jennifer Schleit

20

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16 October 2017

Amber Burt

21

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16 October 2017

Seema M Jamal

22

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16 October 2017

Jenica L Abrudan

23

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16 October 2017

Laura K Conlin

25

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16 October 2017

Matthew C Dulik

26

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16 October 2017

Avni Santani

27

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16 October 2017

Danielle R Metterville

28

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16 October 2017

Melissa Kelly

29

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16 October 2017

Ann Katherine M Foreman

30

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16 October 2017

Xiuqing Guo

33

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16 October 2017

Kristy Crooks

34

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16 October 2017

Lesli A Kiedrowski

35

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16 October 2017

Leslie J Raffel

36

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16 October 2017

Ora Gordon

37

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16 October 2017

Kalotina Machini

38

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16 October 2017

Surabhi Mulchandani

42

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16 October 2017

Greg M Cooper

43

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16 October 2017

C Sue Richards

45

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16 October 2017

Yaoping Yang

46

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16 October 2017

Stephen S Rich

48

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16 October 2017

James P Evans

52

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16 October 2017

Robin L Bennett

55

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16 October 2017

Thomas Bird

56

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16 October 2017

Virginia P Sybert

57

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16 October 2017

Jerry H Kim

60

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16 October 2017

Michael J Bamshad

61

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16 October 2017

Arno G Motulsky

63

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16 October 2017

C Ronald Scott

64

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16 October 2017

Colin C Pritchard

65

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16 October 2017

Wendy H Raskind

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16 October 2017

Peter Byers

69

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16 October 2017

30 January 2015

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16 October 2017

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16 October 2017

25

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3

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16 October 2017

305-315

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

16 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352885

Guidelines for investigating causality of sequence variants in human disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352885

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352885

A general framework for estimating the relative pathogenicity of human genetic variants

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352885

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352885

Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352885

Using exome data to identify malignant hyperthermia susceptibility mutations

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352885

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352885

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352885

Interpreting secondary cardiac disease variants in an exome cohort

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352885

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352885

Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352885

Improving the rigor of mutation reports: biologic parentage and de novo mutations

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352885

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352885

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352885

The search for unaffected individuals with Lynch syndrome: do the ends justify the means?

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352885

Identifying a high fraction of the human genome to be under selective constraint using GERP++.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352885

Identification and functional characterization of malignant hyperthermia mutation T1354S in the outer pore of the Cavalpha1S-subunit

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352885

The Human Gene Mutation Database: 2008 update

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352885

Population structure and eigenanalysis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352885

Principal components analysis corrects for stratification in genome-wide association studies

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352885

Distribution and intensity of constraint in mammalian genomic sequence

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352885

Nonsense-mediated mRNA decay: molecular insights and mechanistic variations across species

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352885

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352885

Monogenic hypercholesterolemia: new insights in pathogenesis and treatment

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352885

The prevalence of common BRCA1 and BRCA2 mutations among Ashkenazi Jews

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352885

A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352885

26 November 2018

Identifiers

DOI

10.1101/GR.183483.114

1 reference

16 October 2017

1 reference

16 October 2017

PubMed publication ID

25637381

1 reference