Massively parallel sequencing and rare disease (Q30393790)

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scientific article

Language	Label	Description	Also known as
English	Massively parallel sequencing and rare disease	scientific article

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

30 October 2017

Massively parallel sequencing and rare disease (English)

1 reference

Europe PubMed Central

PMC publication ID

30 October 2017

0 references

4

1 reference

Europe PubMed Central

PMC publication ID

30 October 2017

Deborah A Nickerson

2

object named as

Deborah A Nickerson

1 reference

Europe PubMed Central

PMC publication ID

30 October 2017

Michael J Bamshad

3

object named as

Michael J Bamshad

1 reference

Europe PubMed Central

PMC publication ID

30 October 2017

author name string

Sarah B Ng

1

1 reference

Europe PubMed Central

PMC publication ID

30 October 2017

publication date

15 September 2010

1 reference

Europe PubMed Central

PMC publication ID

30 October 2017

Human Molecular Genetics

1 reference

Europe PubMed Central

PMC publication ID

30 October 2017

19

1 reference

Europe PubMed Central

PMC publication ID

30 October 2017

R2

1 reference

Europe PubMed Central

PMC publication ID

30 October 2017

R119-24

1 reference

Europe PubMed Central

PMC publication ID

30 October 2017

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

1 reference

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20 June 2018

Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953741

20 June 2018

Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene

1 reference

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20 June 2018

Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing

1 reference

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20 June 2018

Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics

1 reference

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20 June 2018

Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate

1 reference

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Next generation sequencing in research and diagnostics of ocular birth defects

1 reference

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20 June 2018

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

1 reference

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A method and server for predicting damaging missense mutations

1 reference

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20 June 2018

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

1 reference

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20 June 2018

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

1 reference

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20 June 2018

Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79

1 reference

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Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy

1 reference

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Massively parallel sequencing of ataxia genes after array-based enrichment

1 reference

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Target-enrichment strategies for next-generation sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953741

20 June 2018

Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953741

20 June 2018

Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953741

20 June 2018

Sequencing technologies - the next generation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953741

20 June 2018

Exome sequencing identifies the cause of a mendelian disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953741

20 June 2018

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953741

20 June 2018

Next generation sequence analysis for mitochondrial disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953741

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High-resolution, high-throughput HLA genotyping by next-generation sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953741

20 June 2018

Targeted capture and massively parallel sequencing of 12 human exomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953741

20 June 2018

Identification of deleterious mutations within three human genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953741

20 June 2018

The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953741

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IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953741

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953741

20 June 2018

The UCSC Genome Browser Database: update 2009

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953741

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Mendelian Inheritance in Man and its online version, OMIM

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953741

20 June 2018

NCBI reference sequences (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953741

20 June 2018

GENCODE: producing a reference annotation for ENCODE

1 reference

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20 June 2018

Mendelian disorders deserve more attention

1 reference

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Distribution and intensity of constraint in mammalian genomic sequence

1 reference

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SIFT: Predicting amino acid changes that affect protein function

1 reference

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Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease

1 reference

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Human non-synonymous SNPs: server and survey

1 reference

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Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

1 reference

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De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

1 reference

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21 January 2018

DNA sequence capture and enrichment by microarray followed by next-generation sequencing for targeted resequencing: neurofibromatosis type 1 gene as a model

1 reference

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Intron gain and loss in segmentally duplicated genes in rice

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ390

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The Human Gene Mutation Database: 2008 update

1 reference

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26 November 2018

Mapping complex genetic traits in humans: new methods using a complete RFLP linkage map

1 reference

https://pubmed.ncbi.nlm.nih.gov/20846941

12 December 2020

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Identifiers

10.1093/HMG/DDQ390

1 reference

Europe PubMed Central

PMC publication ID

30 October 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

30 October 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

30 October 2017

ResearchGate publication ID

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