Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene

Towards a comprehensive catalogue of validated and target-linked human enhancers

(2020) Molly Gasperini et al.   NATURE REVIEWS GENETICS

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Neuron-targeted caveolin-1 improves neuromuscular function and extends survival in SOD1G93A mice

(2019) Atsushi Sawada et al.   FASEB JOURNAL

Gene-Environment Interaction in the Era of Precision Medicine

(2019) Jingjing Li et al.   CELL

Disease Heritability Enrichment of Regulatory Elements Is Concentrated in Elements with Ancient Sequence Age and Conserved Function across Species

(2019) Margaux L.A. Hujoel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Lifetime Risk and Heritability of Amyotrophic Lateral Sclerosis

(2019) Marie Ryan et al.   JAMA Neurology

NurOwn, phase 2, randomized, clinical trial in patients with ALS

(2019) James D. Berry et al.   NEUROLOGY

Searching for solutions to the missing heritability problem

(2019) Luisa F Pallares   eLife

Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis

(2018)   EUROPEAN JOURNAL OF HUMAN GENETICS

Enhancers: bridging the gap between gene control and human disease

(2018) Jaret M Karnuta et al.   HUMAN MOLECULAR GENETICS

RSAT 2018: regulatory sequence analysis tools 20th anniversary

(2018) Nga Thi Thuy Nguyen et al.   NUCLEIC ACIDS RESEARCH

Using 3D epigenomic maps of primary olfactory neuronal cells from living individuals to understand gene regulation

(2018) Suhn K. Rhie et al.   Science Advances

An Upper Limit on the Functional Fraction of the Human Genome

(2017) Dan Graur   Genome Biology and Evolution

Fast, scalable prediction of deleterious noncoding variants from functional and population genomic data

(2017) Yi-Fei Huang et al.   NATURE GENETICS

GeneHancer: genome-wide integration of enhancers and target genes in GeneCards

(2017) Simon Fishilevich et al.   Database-The Journal of Biological Databases and Curation

Caveolin-1 and Caveolin-2 Can Be Antagonistic Partners in Inflammation and Beyond

(2017) Cecília Jacques Gonçalves de Almeida   Frontiers in Immunology

In vivo genome editing improves motor function and extends survival in a mouse model of ALS

(2017) Thomas Gaj et al.   Science Advances

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

(2016) Monkol Lek et al.   NATURE

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

(2016) Wouter van Rheenen et al.   NATURE GENETICS

KEGG: new perspectives on genomes, pathways, diseases and drugs

(2016) Minoru Kanehisa et al.   NUCLEIC ACIDS RESEARCH

Functions of cholera toxin B-subunit as a raft cross-linker

(2015) Charles A. Day et al.   Essays in Biochemistry

Unraveling determinants of transcription factor binding outside the core binding site

(2015) Michal Levo et al.   GENOME RESEARCH

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

(2015) Axel Freischmidt et al.   NATURE NEUROSCIENCE

The selection and function of cell type-specific enhancers

(2015) Sven Heinz et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Second-generation PLINK: rising to the challenge of larger and richer datasets

(2015) Christopher C Chang et al.   GigaScience

On non-detects in qPCR data

(2014) M. N. McCall et al.   BIOINFORMATICS

The Interdependence of Membrane Shape and Cellular Signal Processing

(2014) Malte Schmick et al.   CELL

Analysis of amyotrophic lateral sclerosis as a multistep process: a population-based modelling study

(2014) Ammar Al-Chalabi et al.   LANCET NEUROLOGY

Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms

(2013) Come Raczy et al.   BIOINFORMATICS

Enhancers: five essential questions

(2013) Len A. Pennacchio et al.   NATURE REVIEWS GENETICS

Autophagy and apoptosis dysfunction in neurodegenerative disorders

(2013) Saeid Ghavami et al.   PROGRESS IN NEUROBIOLOGY

Optimal Unified Approach for Rare-Variant Association Testing with Application to Small-Sample Case-Control Whole-Exome Sequencing Studies

(2012) Seunggeun Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Evidence of Abundant Purifying Selection in Humans for Recently Acquired Regulatory Functions

(2012) L. D. Ward et al.   SCIENCE

Simple Neurite Tracer: open source software for reconstruction, visualization and analysis of neuronal processes

(2011) M. H. Longair et al.   BIOINFORMATICS

The variant call format and VCFtools

(2011) P. Danecek et al.   BIOINFORMATICS

RefGenes: identification of reliable and condition specific reference genes for RT-qPCR data normalization

(2011) Tomas Hruz et al.   BMC GENOMICS

Comparison of statistical tests for disease association with rare variants

(2011) Saonli Basu et al.   GENETIC EPIDEMIOLOGY

Neuron-targeted Caveolin-1 Protein Enhances Signaling and Promotes Arborization of Primary Neurons

(2011) Brian P. Head et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Transcription initiation platforms and GTF recruitment at tissue-specific enhancers and promoters

(2011) Frederic Koch et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

3D reconstruction of histological sections: Application to mammary gland tissue

(2010) Ignacio Arganda-Carreras et al.   MICROSCOPY RESEARCH AND TECHNIQUE

Uncovering the roles of rare variants in common disease through whole-genome sequencing

(2010) Elizabeth T. Cirulli et al.   NATURE REVIEWS GENETICS

Loss of Caveolin-1 Accelerates Neurodegeneration and Aging

(2010) Brian P. Head et al.   PLoS One

Liaisons dangereuses: autophagy, neuronal survival and neurodegeneration

(2008) Sharon A Tooze et al.   CURRENT OPINION IN NEUROBIOLOGY

Analyzing real-time PCR data by the comparative CT method

(2008) Thomas D Schmittgen et al.   Nature Protocols