(Q35689810)

9 August 2017

Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations (English)

1 reference

9 August 2017

20

Leslie G Biesecker

1 reference

9 August 2017

19

James C Mullikin

1 reference

9 August 2017

17

David N Cooper

1 reference

9 August 2017

Jennifer J Johnston

1

1 reference

9 August 2017

Katie L Lewis

2

1 reference

9 August 2017

David Ng

3

1 reference

9 August 2017

Larry N Singh

4

1 reference

9 August 2017

Jamila Wynter

5

1 reference

9 August 2017

Carmen Brewer

6

1 reference

9 August 2017

Brian P Brooks

7

1 reference

9 August 2017

Isaac Brownell

8

1 reference

9 August 2017

Fabio Candotti

9

1 reference

9 August 2017

Steven G Gonsalves

10

1 reference

9 August 2017

Suzanne P Hart

11

1 reference

9 August 2017

Heidi H Kong

12

1 reference

9 August 2017

Kristina I Rother

13

1 reference

9 August 2017

Robert Sokolic

14

1 reference

9 August 2017

Benjamin D Solomon

15

1 reference

9 August 2017

Wadih M Zein

16

1 reference

9 August 2017

Peter D Stenson

18

1 reference

9 August 2017

language of work or name

English

0 references

publication date

1 June 2015

1 reference

American Journal of Human Genetics

9 August 2017

1 reference

9 August 2017

96

1 reference

9 August 2017

913-925

1 reference

9 August 2017

6

1 reference

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

9 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457956

Protein S: A multifunctional anticoagulant vitamin K-dependent protein at the crossroads of coagulation, inflammation, angiogenesis, and cancer.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457956

Hypothesis-generating research and predictive medicine

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457956

BRCA1 is a novel target to improve endothelial dysfunction and retard atherosclerosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457956

Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457956

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457956

A systematic survey of loss-of-function variants in human protein-coding genes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457956

Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457956

VarSifter: visualizing and analyzing exome-scale sequence variation data on a desktop computer

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457956

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457956

Characterising and predicting haploinsufficiency in the human genome.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457956

Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457956

MutationTaster evaluates disease-causing potential of sequence alterations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457956

Validation of My Family Health Portrait for six common heritable conditions

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457956

The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457956

Medical sequencing at the extremes of human body mass

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457956

Most rare missense alleles are deleterious in humans: implications for complex disease and association studies

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457956

Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457956

Pediatric writer's cramp in myoclonus-dystonia: maternal imprinting hides positive family history

12 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26046366

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2015.04.013

1 reference

9 August 2017

1 reference

9 August 2017

1 reference