Genetic diagnosis of Mendelian disorders via RNA sequencing (Q40953669)

25 September 2017

Genetic diagnosis of Mendelian disorders via RNA sequencing (English)

1 reference

25 September 2017

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28604674%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Valeria Tiranti

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28604674%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Daniel M Bader

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28604674%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Christian Mertes

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28604674%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Eliska Holzerova

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28604674%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Gabi Kastenmüller

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28604674%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Benoit Funalot

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28604674%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Anne Lombès

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28604674%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Daniele Ghezzi

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28604674%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Johannes A Mayr

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28604674%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Julien Gagneur

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28604674%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Holger Prokisch

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28604674%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Robert William Taylor

23

object named as

Robert W Taylor

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28604674%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

author name string

Laura S Kremer

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28604674%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Robert Kopajtich

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28604674%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Garwin Pichler

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28604674%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Arcangela Iuso

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28604674%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Tobias B Haack

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28604674%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Elisabeth Graf

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28604674%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Thomas Schwarzmayr

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28604674%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Caterina Terrile

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28604674%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Birgit Repp

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28604674%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Christoph Leonhardt

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28604674%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Alice Donati

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28604674%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Claude Jardel

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28604674%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Dieter Gläser

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28604674%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Agnes Rötig

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28604674%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Peter Freisinger

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28604674%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Felix Distelmaier

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28604674%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Tim M Strom

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28604674%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Thomas Meitinger

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28604674%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Peter Lichtner

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28604674%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

language of work or name

English

0 references

publication date

12 June 2017

1 reference

25 September 2017

Nature Communications

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28604674%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

volume

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28604674%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

page(s)

15824

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28604674%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ncomms15824

31 May 2020

exact match

0 references

cites work

CLPP coordinates mitoribosomal assembly through the regulation of ERAL1 levels.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

Analysis of protein-coding genetic variation in 60,706 humans

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

Lessons from non-canonical splicing

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

Exploiting aberrant mRNA expression in autism for gene discovery and diagnosis.

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

RNA splicing is a primary link between genetic variation and disease

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

On the Dependency of Cellular Protein Levels on mRNA Abundance

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

A Burden of Rare Variants Associated with Extremes of Gene Expression in Human Peripheral Blood.

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

RNAseq analysis for the diagnosis of muscular dystrophy

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

RNA mis-splicing in disease

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

Random monoallelic expression of autosomal genes: stochastic transcription and allele-level regulation

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

An integrated map of structural variation in 2,504 human genomes

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

A global reference for human genetic variation

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

A rare variant (c.863G>T) in exon 7 of SMN1 disrupts mRNA splicing and is responsible for spinal muscular atrophy

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

Spectrum of combined respiratory chain defects

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

Whole exome sequencing of suspected mitochondrial patients in clinical practice.

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

Aberrant gene expression in humans

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

Proteogenomic characterization of human colon and rectal cancer

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

Random monoallelic expression: regulating gene expression one allele at a time

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

TIMMDC1/C3orf1 functions as a membrane-embedded mitochondrial complex I assembly factor through association with the MCIA complex

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

Assembly factors for the membrane arm of human complex I.

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

Genotype-environment interactions reveal causal pathways that mediate genetic effects on phenotype

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

Software for computing and annotating genomic ranges

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

Intron-centric estimation of alternative splicing from RNA-seq data

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

Mitochondrial disorders as windows into an ancient organelle

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

STAR: ultrafast universal RNA-seq aligner

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

GENCODE: the reference human genome annotation for The ENCODE Project

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

Pre-mRNA splicing in disease and therapeutics

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

SpliceAid 2: a database of human splicing factors expression data and RNA target motifs

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

Cryptic splice sites and split genes

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

Differential expression analysis for sequence count data

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

Why barcode? High-throughput multiplex sequencing of mitochondrial genomes for molecular systematics

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

The Sequence Alignment/Map format and SAMtools

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

Fast and accurate short read alignment with Burrows-Wheeler transform

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

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

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

Alternative splicing and disease

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

MitoP2: an integrative tool for the analysis of the mitochondrial proteome

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

Novel function of glutathione transferase in rat liver mitochondrial membrane: role for cytochrome c release from mitochondria

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

SplicePort--an interactive splice-site analysis tool

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

The Sequence Ontology: a tool for the unification of genome annotations

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

Variation in sequence and organization of splicing regulatory elements in vertebrate genes

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

Dystrophin and mutations: one gene, several proteins, multiple phenotypes

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

Prediction of complete gene structures in human genomic DNA

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

Metabolism of Proline and the Hydroxyprolines

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

Perrault syndrome: further evidence for genetic heterogeneity.

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

Plant mitochondria contain proteolytic and regulatory subunits of the ATP-dependent Clp protease

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5499207

Europeans have a higher proportion of high‑frequency deleterious variants than Africans.

19 August 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS15824

A sharper Bonferroni procedure for multiple tests of significance

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS15824

ALMNASplicing Mutation in Two Sisters with Severe Dunnigan-Type Familial Partial Lipodystrophy Type 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS15824

The impact of rare variation on gene expression across tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS15824

inferred from DOI database lookup

7 January 2021

based on heuristic

Mitochondrial diseases

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS15824

inferred from DOI database lookup

7 January 2021

based on heuristic

Human genetics. GTEx detects genetic effects

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS15824

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NCOMMS15824

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28604674%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28604674%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

1 reference