Related references
Note: Only part of the references are listed.Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
Beryl B. Cummings et al.
SCIENCE TRANSLATIONAL MEDICINE (2017)
Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration
Eliska Holzerova et al.
BRAIN (2016)
A rare variant (c.863G>T) in exon 7 of SMN1 disrupts mRNA splicing and is responsible for spinal muscular atrophy
Yu-jin Qu et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2016)
Europeans have a higher proportion of high-frequency deleterious variants than Africans
Sankar Subramanian
HUMAN GENETICS (2016)
RNA mis-splicing in disease
Marina M. Scotti et al.
NATURE REVIEWS GENETICS (2016)
A Burden of Rare Variants Associated with Extremes of Gene Expression in Human Peripheral Blood
Jing Zhao et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
On the Dependency of Cellular Protein Levels on mRNA Abundance
Yansheng Liu et al.
CELL (2016)
CLPP coordinates mitoribosomal assembly through the regulation of ERAL1 levels
Karolina Szczepanowska et al.
EMBO JOURNAL (2016)
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek et al.
NATURE (2016)
Lessons from non-canonical splicing
Christopher R. Sibley et al.
NATURE REVIEWS GENETICS (2016)
RNA splicing is a primary link between genetic variation and disease
Yang I. Li et al.
SCIENCE (2016)
Deficient methylation and formylation of mt- tRNAMet wobble cytosine in a patient carrying mutations in NSUN3
Lindsey Van Haute et al.
NATURE COMMUNICATIONS (2016)
Mitochondrial diseases
Grainne S. Gorman et al.
NATURE REVIEWS DISEASE PRIMERS (2016)
RNAseq analysis for the diagnosis of muscular dystrophy
Hernan Gonorazky et al.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2016)
Recurrent De Novo Mutations Affecting Residue Arg1 38 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa
Bjoern Fischer-Zirnsak et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia
Marie Coutelier et al.
BRAIN (2015)
Spectrum of combined respiratory chain defects
Johannes A. Mayr et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2015)
Whole exome sequencing of suspected mitochondrial patients in clinical practice
Saskia B. Wortmann et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2015)
An integrated map of structural variation in 2,504 human genomes
Peter H. Sudmant et al.
NATURE (2015)
A global reference for human genetic variation
David M. Altshuler et al.
NATURE (2015)
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
Jenny C. Taylor et al.
NATURE GENETICS (2015)
MODES OF TRANSCRIPTIONAL REGULATION Random monoallelic expression of autosomal genes: stochastic transcription and allele-level regulation
Bjorn Reinius et al.
NATURE REVIEWS GENETICS (2015)
GTEx detects genetic effects
Greg Gibson
SCIENCE (2015)
Aberrant Gene Expression in Humans
Yong Zeng et al.
PLOS GENETICS (2015)
The human splicing code reveals new insights into the genetic determinants of disease
Hui Y. Xiong et al.
SCIENCE (2015)
TIMMDC1/C3orf1 Functions as a Membrane-Embedded Mitochondrial Complex I Assembly Factor through Association with the MCIA Complex
Virginia Guarani et al.
MOLECULAR AND CELLULAR BIOLOGY (2014)
Proteogenomic characterization of human colon and rectal cancer
Bing Zhang et al.
NATURE (2014)
Random monoallelic expression: regulating gene expression one allele at a time
Melanie A. Eckersiey-Maslin et al.
TRENDS IN GENETICS (2014)
Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2
Michael I. Love et al.
GENOME BIOLOGY (2014)
ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy
Tobias B. Haack et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease
Emma M. Jenkinson et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Intron-centric estimation of alternative splicing from RNA-seq data
Dmitri D. Pervouchine et al.
BIOINFORMATICS (2013)
STAR: ultrafast universal RNA-seq aligner
Alexander Dobin et al.
BIOINFORMATICS (2013)
Assembly factors for the membrane arm of human complex I
Byron Andrews et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
Software for Computing and Annotating Genomic Ranges
Michael Lawrence et al.
PLOS COMPUTATIONAL BIOLOGY (2013)
Genotype-Environment Interactions Reveal Causal Pathways That Mediate Genetic Effects on Phenotype
Julien Gagneur et al.
PLOS GENETICS (2013)
Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome
Johannes A. Mayr et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
GENCODE: The reference human genome annotation for The ENCODE Project
Jennifer Harrow et al.
GENOME RESEARCH (2012)
SpliceAid 2: A Database of Human Splicing Factors Expression Data and RNA Target Motifs
Francesco Piva et al.
HUMAN MUTATION (2012)
Perrault syndrome: further evidence for genetic heterogeneity
Emma M. Jenkinson et al.
JOURNAL OF NEUROLOGY (2012)
Mitochondrial disorders as windows into an ancient organelle
Scott B. Vafai et al.
NATURE (2012)
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
Cornelis A. Albers et al.
NATURE GENETICS (2012)
Pre-mRNA splicing in disease and therapeutics
Ravi K. Singh et al.
TRENDS IN MOLECULAR MEDICINE (2012)
A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data
Heng Li
BIOINFORMATICS (2011)
Cryptic splice sites and split genes
Yuri Kapustin et al.
NUCLEIC ACIDS RESEARCH (2011)
Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
William McLaren et al.
BIOINFORMATICS (2010)
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency
Tobias B. Haack et al.
NATURE GENETICS (2010)
Why barcode? High-throughput multiplex sequencing of mitochondrial genomes for molecular systematics
M. J. T. N. Timmermans et al.
NUCLEIC ACIDS RESEARCH (2010)
Differential expression analysis for sequence count data
Simon Anders et al.
GENOME BIOLOGY (2010)
The Sequence Alignment/Map format and SAMtools
Heng Li et al.
BIOINFORMATICS (2009)
Fast and accurate short read alignment with Burrows-Wheeler transform
Heng Li et al.
BIOINFORMATICS (2009)
Human Splicing Finder: an online bioinformatics tool to predict splicing signals
Francois-Olivier Desmet et al.
NUCLEIC ACIDS RESEARCH (2009)
MitoP2: An Integrative Tool for the Analysis of the Mitochondrial Proteome
Matthias Elstner et al.
MOLECULAR BIOTECHNOLOGY (2008)
Novel function of glutathione transferase in rat liver mitochondrial membrane: Role for cytochrome c release from mitochondria
Kang Kwang Lee et al.
TOXICOLOGY AND APPLIED PHARMACOLOGY (2008)
SplicePort - An interactive splice-site analysis tool
Rezarta Islamaj Dogan et al.
NUCLEIC ACIDS RESEARCH (2007)
A LMNA splicing mutation in two sisters with severe dunnigan-type familial partial lipodystrophy type 2
Chantal F. Morel et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2006)
The Sequence Ontology: a tool for the unification of genome annotations
K Eilbeck et al.
GENOME BIOLOGY (2005)
Variation in sequence and organization of splicing regulatory elements in vertebrate genes
G Yeo et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
Dystrophin and mutations: one gene, several proteins, multiple phenotypes
F Muntoni et al.
LANCET NEUROLOGY (2003)
Plant mitochondria contain proteolytic and regulatory subunits of the ATP-dependent Clp protease
T Halperin et al.
PLANT MOLECULAR BIOLOGY (2001)
Hyperammonemia with reduced ornithine, citrulline, arginine and proline:: a new inborn error caused by a mutation in the gene encoding Δ1-pyrroline-5-carboxylate synthase
MR Baumgartner et al.
HUMAN MOLECULAR GENETICS (2000)
Share Paper
