Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines

Nuclear accumulation of CHMP7 initiates nuclear pore complex injury and subsequent TDP-43 dysfunction in sporadic and familial ALS

(2021) Alyssa N. Coyne et al.   Science Translational Medicine

Estimation of forced vital capacity using speech acoustics in patients with ALS

(2021) Gabriela M. Stegmann et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

An integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients

(2021) Jonathan Li et al.   iScience

G4C2 Repeat RNA Initiates a POM121-Mediated Reduction in Specific Nucleoporins in C9orf72 ALS/FTD

(2020) Alyssa N. Coyne et al.   NEURON

Generation of twenty four induced pluripotent stem cell lines from twenty four members of the Lothian Birth Cohort 1936

(2020) Jamie Toombs et al.   Stem Cell Research

A Large Panel of Isogenic APP and PSEN1 Mutant Human iPSC Neurons Reveals Shared Endosomal Abnormalities Mediated by APP β-CTFs, Not Aβ

(2019) Dylan Kwart et al.   NEURON

A Comprehensive Resource for Induced Pluripotent Stem Cells from Patients with Primary Tauopathies

(2019) Celeste M. Karch et al.   Stem Cell Reports

Stress Granule Assembly Disrupts Nucleocytoplasmic Transport

(2018) Ke Zhang et al.   CELL

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

(2018) Aude Nicolas et al.   NEURON

Subgroup analysis reveals molecular heterogeneity and provides potential precise treatment for pancreatic cancers

(2018) Heying Zhang et al.   OncoTargets and Therapy

Detection of long repeat expansions from PCR-free whole-genome sequence data

(2017) Egor Dolzhenko et al.   GENOME RESEARCH

Huntington’s Disease iPSC-Derived Brain Microvascular Endothelial Cells Reveal WNT-Mediated Angiogenic and Blood-Brain Barrier Deficits

(2017) Ryan G. Lim et al.   Cell Reports

Shortcomings in the Current Amyotrophic Lateral Sclerosis Trials and Potential Solutions for Improvement

(2017) Nakul Katyal et al.   Frontiers in Neurology

Fast Principal-Component Analysis Reveals Convergent Evolution of ADH1B in Europe and East Asia

(2016) Kevin J. Galinsky et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

(2016) Sarah S. Kalia et al.   GENETICS IN MEDICINE

dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs

(2016) Xiaoming Liu et al.   HUMAN MUTATION

Decoding ALS: from genes to mechanism

(2016) J. Paul Taylor et al.   NATURE

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

(2016) Monkol Lek et al.   NATURE

Towards precision medicine

(2016) Euan A. Ashley   NATURE REVIEWS GENETICS

DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variants

(2016) Janet Piñero et al.   NUCLEIC ACIDS RESEARCH

Effect of peptide assay library size and composition in targeted data-independent acquisition-MS analyses

(2016) Sarah J. Parker et al.   PROTEOMICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

mapDIA: Preprocessing and statistical analysis of quantitative proteomics data from data independent acquisition mass spectrometry

(2015) Guoshou Teo et al.   Journal of Proteomics

Correlation of single-breath count test and neck flexor muscle strength with spirometry in myasthenia gravis

(2015) Bakri Elsheikh et al.   MUSCLE & NERVE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS

(2015) Mercedes Prudencio et al.   NATURE NEUROSCIENCE

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

The human gene damage index as a gene-level approach to prioritizing exome variants

(2015) Yuval Itan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

(2015) et al.   SCIENCE

Tissue-based map of the human proteome

(2015) M. Uhlen et al.   SCIENCE

Predicting effective microRNA target sites in mammalian mRNAs

(2015) Vikram Agarwal et al.   eLife

A Comprehensive Library of Familial Human Amyotrophic Lateral Sclerosis Induced Pluripotent Stem Cells

(2015) Ying Li et al.   PLoS One

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

(2014) S. Anders et al.   BIOINFORMATICS

Pathways Disrupted in Human ALS Motor Neurons Identified through Genetic Correction of Mutant SOD1

(2014) Evangelos Kiskinis et al.   Cell Stem Cell

A three-dimensional human neural cell culture model of Alzheimer’s disease

(2014) Se Hoon Choi et al.   NATURE

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

(2014) Joanna S. Amberger et al.   NUCLEIC ACIDS RESEARCH

Predicting the functional consequences of cancer-associated amino acid substitutions

(2013) Hashem A. Shihab et al.   BIOINFORMATICS

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green et al.   GENETICS IN MEDICINE

dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations

(2013) Xiaoming Liu et al.   HUMAN MUTATION

Proteostasis of polyglutamine varies among neurons and predicts neurodegeneration

(2013) Andrey S Tsvetkov et al.   Nature Chemical Biology

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention

(2013) Christopher J. Donnelly et al.   NEURON

Astrocyte pathology and the absence of non-cell autonomy in an induced pluripotent stem cell model of TDP-43 proteinopathy

(2013) A. Serio et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Clinical Genomic Database

(2013) B. D. Solomon et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Targeting RNA Foci in iPSC-Derived Motor Neurons from ALS Patients with a C9ORF72 Repeat Expansion

(2013) D. Sareen et al.   Science Translational Medicine

Predicting Mendelian Disease-Causing Non-Synonymous Single Nucleotide Variants in Exome Sequencing Studies

(2013) Miao-Xin Li et al.   PLoS Genetics

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

Development of a Smartphone App for a Genetics Website: The Amyotrophic Lateral Sclerosis Online Genetics Database (ALSoD)

(2013) Olubunmi Abel et al.   JMIR mHealth and uHealth

Induced Pluripotent Stem Cells from Patients with Huntington's Disease Show CAG-Repeat-Expansion-Associated Phenotypes

(2012) The HD iPSC Consortium   Cell Stem Cell

Annotation of functional variation in personal genomes using RegulomeDB

(2012) A. P. Boyle et al.   GENOME RESEARCH

Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models

(2012) Hashem A. Shihab et al.   HUMAN MUTATION

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

SIFT web server: predicting effects of amino acid substitutions on proteins

(2012) Ngak-Leng Sim et al.   NUCLEIC ACIDS RESEARCH

A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases

(2012) Miao-Xin Li et al.   NUCLEIC ACIDS RESEARCH

Mutant induced pluripotent stem cell lines recapitulate aspects of TDP-43 proteinopathies and reveal cell-specific vulnerability

(2012) B. Bilican et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

Protein aggregates in Huntington's disease

(2011) Montserrat Arrasate et al.   EXPERIMENTAL NEUROLOGY

dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

(2011) Xiaoming Liu et al.   HUMAN MUTATION

Identifying polyglutamine protein species in situ that best predict neurodegeneration

(2011) Jason Miller et al.   Nature Chemical Biology

Predicting the functional impact of protein mutations: application to cancer genomics

(2011) Boris Reva et al.   NUCLEIC ACIDS RESEARCH

Risk genotypes at TMEM106B are associated with cognitive impairment in amyotrophic lateral sclerosis

(2010) Ryan Vass et al.   ACTA NEUROPATHOLOGICA

A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem Cells

(2010) Maria C.N. Marchetto et al.   CELL

Cytoplasmic Mislocalization of TDP-43 Is Toxic to Neurons and Enhanced by a Mutation Associated with Familial Amyotrophic Lateral Sclerosis

(2010) S. J. Barmada et al.   JOURNAL OF NEUROSCIENCE

Simple Combinations of Lineage-Determining Transcription Factors Prime cis-Regulatory Elements Required for Macrophage and B Cell Identities

(2010) Sven Heinz et al.   MOLECULAR CELL

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

(2010) Andrew C. Elden et al.   NATURE

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

GOrilla: a tool for discovery and visualization of enriched GO terms in ranked gene lists

(2009) Eran Eden et al.   BMC BIOINFORMATICS

Identification of deleterious mutations within three human genomes

(2009) S. Chun et al.   GENOME RESEARCH

Fast model-based estimation of ancestry in unrelated individuals

(2009) D. H. Alexander et al.   GENOME RESEARCH

A Genealogical Interpretation of Principal Components Analysis

(2009) Gil McVean   PLoS Genetics

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

(2008) C Sue Richards et al.   GENETICS IN MEDICINE

Single Neuron Ubiquitin-Proteasome Dynamics Accompanying Inclusion Body Formation in Huntington Disease

(2008) Siddhartha Mitra et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

NCBI GEO: archive for high-throughput functional genomic data

(2008) T. Barrett et al.   NUCLEIC ACIDS RESEARCH