A Point Mutation in a lincRNA Upstream of GDNF Is Associated to a Canine Insensitivity to Pain: A Spontaneous Model for Human Sensory Neuropathies

Transcriptomic analyses of genes and tissues in inherited sensory neuropathies

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Hereditary motor and sensory neuropathies: Understanding molecular pathogenesis could lead to future treatment strategies

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Recurrent somatic mutations in regulatory regions of human cancer genomes

(2015) Collin Melton et al.   NATURE GENETICS

CTCF/cohesin-binding sites are frequently mutated in cancer

(2015) Riku Katainen et al.   NATURE GENETICS

The UCSC Genome Browser database: 2016 update

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Enhancer RNAs: A Class of Long Noncoding RNAs Synthesized at Enhancers: Figure 1.

(2015) Tae-Kyung Kim et al.   Cold Spring Harbor Perspectives in Biology

Genome-wide differential expression of synaptic long noncoding RNAs in autism spectrum disorder

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HTSeq--a Python framework to work with high-throughput sequencing data

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PLEK: a tool for predicting long non-coding RNAs and messenger RNAs based on an improved k-mer scheme

(2014) Aimin Li et al.   BMC BIOINFORMATICS

Bidirectional promoters are the major source of gene activation-associated non-coding RNAs in mammals

(2014) Masahiro Uesaka et al.   BMC GENOMICS

Twins with hereditary sensory and autonomic neuropathy type IV with preserved periodontal sensation

(2014) Yeliz Guven et al.   European Journal of Medical Genetics

Neurobiology of pain, interoception and emotional response: lessons from nerve growth factor-dependent neurons

(2014) Yasuhiro Indo   EUROPEAN JOURNAL OF NEUROSCIENCE

An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects

(2014) W. D. Fakhouri et al.   HUMAN MOLECULAR GENETICS

Neuronal activity alters BDNF–TrkB signaling kinetics and downstream functions

(2014) Wei Guo et al.   JOURNAL OF CELL SCIENCE

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis

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Efficient multivariate linear mixed model algorithms for genome-wide association studies

(2014) Xiang Zhou et al.   NATURE METHODS

An Improved Canine Genome and a Comprehensive Catalogue of Coding Genes and Non-Coding Transcripts

(2014) Marc P. Hoeppner et al.   PLoS One

Volatile evolution of long noncoding RNA repertoires: mechanisms and biological implications

(2014) Aurélie Kapusta et al.   TRENDS IN GENETICS

Divergent transcription is associated with promoters of transcriptional regulators

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Roles of long noncoding RNAs in brain development, functional diversification and neurodegenerative diseases

(2013) Ping Wu et al.   BRAIN RESEARCH BULLETIN

Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis

(2013) Michael N Weedon et al.   NATURE GENETICS

Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2

(2013) S. M. Murphy et al.   NEUROLOGY

CPAT: Coding-Potential Assessment Tool using an alignment-free logistic regression model

(2013) Liguo Wang et al.   NUCLEIC ACIDS RESEARCH

Divergent transcription of long noncoding RNA/mRNA gene pairs in embryonic stem cells

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An integrated encyclopedia of DNA elements in the human genome

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Inhibition of natural antisense transcripts in vivo results in gene-specific transcriptional upregulation

(2012) Farzaneh Modarresi et al.   NATURE BIOTECHNOLOGY

PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans

(2012) Anaïs Grall et al.   NATURE GENETICS

Genome-wide efficient mixed-model analysis for association studies

(2012) Xiang Zhou et al.   NATURE GENETICS

Fast gapped-read alignment with Bowtie 2

(2012) Ben Langmead et al.   NATURE METHODS

Differential gene and transcript expression analysis of RNA-seq experiments with TopHat and Cufflinks

(2012) Cole Trapnell et al.   Nature Protocols

Mechanisms of disease in hereditary sensory and autonomic neuropathies

(2012) Annelies Rotthier et al.   Nature Reviews Neurology

H3K4 tri-methylation provides an epigenetic signature of active enhancers

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Epigenetic switch involved in activation of pioneer factor FOXA1-dependent enhancers

(2011) A. A. Serandour et al.   GENOME RESEARCH

Identification of Novel GDNF Isoforms andcis-Antisense GDNFOS Gene and Their Regulation in Human Middle Temporal Gyrus of Alzheimer Disease

(2011) Mikko Airavaara et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Computational methods for transcriptome annotation and quantification using RNA-seq

(2011) Manuel Garber et al.   NATURE METHODS

LUPA: A European initiative taking advantage of the canine genome architecture for unravelling complex disorders in both human and dogs

(2011) Anne-Sophie Lequarré et al.   VETERINARY JOURNAL

Identification of Genomic Regions Associated with Phenotypic Variation between Dog Breeds using Selection Mapping

(2011) Amaury Vaysse et al.   PLoS Genetics

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Acral Mutilation Syndrome in a Miniature Pinscher

(2010) M. Bardagí et al.   JOURNAL OF COMPARATIVE PATHOLOGY

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

(2010) Anne-Christine Merveille et al.   NATURE GENETICS

Canine inherited motor and sensory neuropathies: An updated classification in 22 breeds and comparison to Charcot–Marie–Tooth disease

(2010) Nicolas Granger   VETERINARY JOURNAL

edgeR: a Bioconductor package for differential expression analysis of digital gene expression data

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Hereditary sensory neuropathy type I

(2008) Michaela Auer-Grumbach   Orphanet Journal of Rare Diseases