Structural variants can be more informative for disease diagnostics, prognostics and translation than current SNP mapping and exon sequencing

A cytosine-thymine (CT)-rich haplotype in intron 4 of SNCA confers risk for Lewy body pathology in Alzheimer's disease and affects SNCA expression

(2015) Michael W. Lutz et al.   Alzheimers & Dementia

Assembly and diploid architecture of an individual human genome via single-molecule technologies

(2015) Matthew Pendleton et al.   NATURE METHODS

Amelioration of toxicity in neuronal models of amyotrophic lateral sclerosis by hUPF1

(2015) Sami J. Barmada et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

African-American TOMM40'523-APOE haplotypes are admixture of West African and Caucasian alleles

(2014) Allen D. Roses et al.   Alzheimers & Dementia

The cis-regulatory effect of an Alzheimer’s disease-associated poly-T locus on expression of TOMM40 and apolipoprotein E genes

(2014) Colton Linnertz et al.   Alzheimers & Dementia

Trinucleotide expansion in disease: why is there a length threshold?

(2014) Do-Yup Lee et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Genetic markers for diagnosis and pathogenesis of Alzheimer's disease

(2014) Dong Hee Kim et al.   GENE

In Brief: (Mis)splicing in disease

(2014) Simona Pedrotti et al.   JOURNAL OF PATHOLOGY

The Mef2 Transcription Network Is Disrupted in Myotonic Dystrophy Heart Tissue, Dramatically Altering miRNA and mRNA Expression

(2014) Auinash Kalsotra et al.   Cell Reports

Identification of structural variation in mouse genomes

(2014) Thomas M. Keane et al.   Frontiers in Genetics

Ecological and evolutionary implications of genomic structural variations

(2014) Frédéric J. J. Chain et al.   Frontiers in Genetics

Mitochondrial genome changes and neurodegenerative diseases

(2013) Milena Pinto et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Impacts of Variation in the Human Genome on Gene Regulation

(2013) Rajini R. Haraksingh et al.   JOURNAL OF MOLECULAR BIOLOGY

Phenotypic impact of genomic structural variation: insights from and for human disease

(2013) Joachim Weischenfeldt et al.   NATURE REVIEWS GENETICS

Minor splicing pathway is not minor any more: Implications for the pathogenesis of motor neuron diseases

(2013) Osamu Onodera et al.   NEUROPATHOLOGY

Using Genetics to Enable Studies on the Prevention of Alzheimer’s Disease

(2012) D G Crenshaw et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Characterization of the Poly-T Variant in the TOMM40 Gene in Diverse Populations

(2012) Colton Linnertz et al.   PLoS One

Aberrant Localization of FUS and TDP43 Is Associated with Misfolding of SOD1 in Amyotrophic Lateral Sclerosis

(2012) Edward Pokrishevsky et al.   PLoS One

FUS Transgenic Rats Develop the Phenotypes of Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration

(2011) Cao Huang et al.   PLoS Genetics

Wild-Type Human TDP-43 Expression Causes TDP-43 Phosphorylation, Mitochondrial Aggregation, Motor Deficits, and Early Mortality in Transgenic Mice

(2010) Y.-F. Xu et al.   JOURNAL OF NEUROSCIENCE

TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia

(2010) Ian RA Mackenzie et al.   LANCET NEUROLOGY

Misfolded Mutant SOD1 Directly Inhibits VDAC1 Conductance in a Mouse Model of Inherited ALS

(2010) Adrian Israelson et al.   NEURON

Expansion of the Parkinson disease-associated SNCA- Rep1 allele upregulates human α-synuclein in transgenic mouse brain

(2009) Kenneth D. Cronin et al.   HUMAN MOLECULAR GENETICS

Human genetic variation and its contribution to complex traits

(2009) Kelly A. Frazer et al.   NATURE REVIEWS GENETICS

A TOMM40 variable-length polymorphism predicts the age of late-onset Alzheimer's disease

(2009) A D Roses et al.   PHARMACOGENOMICS JOURNAL

Genetic Regulation of α-Synuclein mRNA Expression in Various Human Brain Tissues

(2009) Colton Linnertz et al.   PLoS One

Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

(2009) T. J. Kwiatkowski et al.   SCIENCE

TDP-43 Overexpression Enhances Exon 7 Inclusion during the Survival of Motor Neuron Pre-mRNA Splicing

(2008) Jayarama Krishnan Bose et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Elevated α-synuclein mRNA levels in individual UV-laser-microdissected dopaminergic substantia nigra neurons in idiopathic Parkinson's disease

(2008) Jan Gründemann et al.   NUCLEIC ACIDS RESEARCH

Selective association of misfolded ALS-linked mutant SOD1 with the cytoplasmic face of mitochondria

(2008) C. Vande Velde et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Candidate Single-Nucleotide Polymorphisms From a Genomewide Association Study of Alzheimer Disease

(2007) Hao Li et al.   ARCHIVES OF NEUROLOGY