(Q43219401)

16 November 2017

Interpreting de novo Variation in Human Disease Using denovolyzeR. (English)

1 reference

16 November 2017

Kaitlin E Samocha

2

0 references

James Ware

object named as

James S Ware

series ordinal

1

0 references

Mark Joseph Daly

series ordinal

4

object named as

Mark J Daly

1 reference

16 November 2017

Jason Homsy

3

1 reference

16 November 2017

6 October 2015

1 reference

Current protocols in human genetics / editorial board, Nicholas C, Dracapoli ... [et al.]

16 November 2017

1 reference

16 November 2017

87

1 reference

16 November 2017

7.25.1-15

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4606471

16 November 2017

1 reference

A framework for the interpretation of de novo mutation in human disease

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4606471

Patterns and rates of exonic de novo mutations in autism spectrum disorders

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4606471

FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4606471

Variation in genome-wide mutation rates within and between human families

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4606471

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4606471

Rate, molecular spectrum, and consequences of human mutation

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4606471

Mapping identifiers for the integration of genomic datasets with the R/Bioconductor package biomaRt

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4606471

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4606471

Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4606471

10.1002/0471142905.HG0725S87

25 May 2018

Identifiers

DOI

1 reference

16 November 2017

1 reference

16 November 2017

1 reference

PMCID

4606471