(Q57092431)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22072591%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

title

Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22072591%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22072591%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Matthew McKenzie

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22072591%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Michael T Ryan

series ordinal

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22072591%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

David Thorburn

series ordinal

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22072591%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

1

Elena J Tucker

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22072591%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

2

Masakazu Mimaki

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22072591%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

publication date

22 December 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22072591%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22072591%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

volume

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22072591%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22072591%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

page(s)

411-418

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22072591%20AND%20SRC:MED&resulttype=core&format=json

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

16 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21654

The iron-sulphur protein Ind1 is required for effective complex I assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21654

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21654

Computational method to predict mitochondrially imported proteins and their targeting sequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21654

Mutation spectrum revealed by breakpoint sequencing of human germline CNVs

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21654

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21654

A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21654

Predicting subcellular localization of proteins based on their N-terminal amino acid sequence

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21654

Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21654

A microhomology-mediated break-induced replication model for the origin of human copy number variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21654

A human genome structural variation sequencing resource reveals insights into mutational mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21654

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21654

Identification of prokaryotic and eukaryotic signal peptides and prediction of their cleavage sites

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21654

A mitochondrial protein compendium elucidates complex I disease biology

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21654

A common variant in MTHFD1L is associated with neural tube defects and mRNA splicing efficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21654

Tricine-sodium dodecyl sulfate-polyacrylamide gel electrophoresis for the separation of proteins in the range from 1 to 100 kDa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21654

Human ind1, an iron-sulfur cluster assembly factor for respiratory complex I

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21654

Minimum birth prevalence of mitochondrial respiratory chain disorders in children

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21654

Initiation of neuronal damage by complex I deficiency and oxidative stress in Parkinson's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21654

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21654

PMM2 intronic branch-site mutations in CDG-Ia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21654

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21654

A KCNH2 branch point mutation causing aberrant splicing contributes to an explanation of genotype-negative long QT syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21654

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21654

inferred from DOI database lookup

7 January 2021

based on heuristic

Assaying protein import into mitochondria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21654

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.21654

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22072591%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

1 reference