The long tail and rare disease research: the impact of next-generation sequencing for rare Mendelian disorders. (Q38586076)

PubMed publication ID

26365496

4 September 2017

title

The long tail and rare disease research: the impact of next-generation sequencing for rare Mendelian disorders (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6863629&resulttype=core&format=json

13 May 2020

0 references

Tony Shen

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6863629&resulttype=core&format=json

13 May 2020

Ariel Lee

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6863629&resulttype=core&format=json

13 May 2020

Carol Shen

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6863629&resulttype=core&format=json

13 May 2020

C Jimmy Lin

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6863629&resulttype=core&format=json

13 May 2020

publication date

14 September 2015

1 reference

PubMed publication ID

4 September 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6863629&resulttype=core&format=json

13 May 2020

volume

97

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6863629&resulttype=core&format=json

13 May 2020

page(s)

e15

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6863629&resulttype=core&format=json

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Whole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli disease

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Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement

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Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

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Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

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21 January 2018

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21 January 2018

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21 January 2018

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The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated

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21 January 2018

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Whole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family

21 January 2018

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7 January 2021

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Computational and bioinformatics frameworks for next-generation whole exome and genome sequencing

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Rare-disease genetics in the era of next-generation sequencing: discovery to translation

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Points to consider in the clinical application of genomic sequencing

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Evaluation and comparison of multiple aligners for next-generation sequencing data analysis

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https://pubmed.ncbi.nlm.nih.gov/26365496

1 reference

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1017/S0016672315000166

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6863629&resulttype=core&format=json

13 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6863629&resulttype=core&format=json

13 May 2020

PubMed publication ID

26365496

1 reference