(Q41920819)

English

Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene

scientific article published on 10 February 2017

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scholarly article

1 reference

Europe PubMed Central

14 October 2017

Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene (English)

1 reference

Europe PubMed Central

14 October 2017

mitochondrial disease

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based on heuristic

inferred from title

Geneviève Bernard

6

object named as

Genevieve Bernard

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Europe PubMed Central

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25

object named as

Kym M Boycott

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Europe PubMed Central

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author name string

Kristin D Kernohan

1

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Europe PubMed Central

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David A Dyment

2

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Europe PubMed Central

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Mihaela Pupavac

3

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Europe PubMed Central

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Zvi Cramer

4

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Europe PubMed Central

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Arran McBride

5

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Europe PubMed Central

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Isabella Straub

7

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Europe PubMed Central

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Martine Tetreault

8

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Taila Hartley

9

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Europe PubMed Central

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Lijia Huang

10

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Erick Sell

11

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Europe PubMed Central

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Jacek Majewski

12

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David S Rosenblatt

13

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Eric Shoubridge

14

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Aziz Mhanni

15

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Tara Myers

16

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Europe PubMed Central

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Virginia Proud

17

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Samanta Vergano

18

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Brooke Spangler

19

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Emily Farrow

20

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Jennifer Kussman

21

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Nicole Safina

22

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Care4Rare Consortium

23

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Carol Saunders

24

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Isabelle Thiffault

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publication date

10 February 2017

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Europe PubMed Central

14 October 2017

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Europe PubMed Central

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38

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5

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511-516

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PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23196

21 January 2018

The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profiles

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23196

21 January 2018

Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23196

21 January 2018

Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23196

21 January 2018

Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23196

21 January 2018

A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23196

21 January 2018

tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23196

21 January 2018

The Matchmaker Exchange: a platform for rare disease gene discovery

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23196

21 January 2018

Nuclear-encoded factors involved in post-transcriptional processing and modification of mitochondrial tRNAs in human disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23196

21 January 2018

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23196

21 January 2018

GeneMatcher: a matching tool for connecting investigators with an interest in the same gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23196

21 January 2018

Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23196

21 January 2018

The Challenge of Analyzing the Results of Next-Generation Sequencing in Children.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23196

21 January 2018

Role of tRNA modifications in human diseases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23196

21 January 2018

Whole exome sequencing of suspected mitochondrial patients in clinical practice.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23196

21 January 2018

Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23196

21 January 2018

Homozygous deletion of TRMT10A as part of a contiguous gene deletion in a syndrome of failure to thrive, delayed puberty, intellectual disability and diabetes mellitus.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23196

21 January 2018

Identifiers

10.1002/HUMU.23196

1 reference

Europe PubMed Central

14 October 2017

1 reference

Europe PubMed Central

14 October 2017

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