A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer’s disease

An Updated Meta-Analysis of the Association between SORL1 Variants and the Risk for Sporadic Alzheimer's Disease

(2018) Chunhui Jin et al.   JOURNAL OF ALZHEIMERS DISEASE

Coding mutations inSORL1and Alzheimer disease

(2015) Badri N. Vardarajan et al.   ANNALS OF NEUROLOGY

Elucidating Molecular Phenotypes Caused by the SORL1 Alzheimer’s Disease Genetic Risk Factor Using Human Induced Pluripotent Stem Cells

(2015) Jessica E. Young et al.   Cell Stem Cell

Rare Variants inPLD3Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort

(2015) Rita Cacace et al.   HUMAN MUTATION

Mutations in ABCA7 in a Belgian cohort of Alzheimer's disease patients: a targeted resequencing study

(2015) Elise Cuyvers et al.   LANCET NEUROLOGY

Meta-analysis of the Association between Alzheimer Disease and Variants in GAB2, PICALM, and SORL1

(2015) Ziran Wang et al.   MOLECULAR NEUROBIOLOGY

SORL1 rare variants: a major risk factor for familial early-onset Alzheimer’s disease

(2015) G Nicolas et al.   MOLECULAR PSYCHIATRY

Structural basis for amyloidogenic peptide recognition by sorLA

(2015) Yu Kitago et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study

(2015) Elise Cuyvers et al.   NEUROBIOLOGY OF AGING

Structural basis for amyloidogenic peptide recognition by sorLA

(2015) Yu Kitago et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

(2014) Julie van der Zee et al.   ACTA NEUROPATHOLOGICA

The Patterns of Inheritance in Early-Onset Dementia

(2014) Anna I. Jarmolowicz et al.   American Journal of Alzheimers Disease and Other Dementias

Trimmomatic: a flexible trimmer for Illumina sequence data

(2014) Anthony M. Bolger et al.   BIOINFORMATICS

Sequence Kernel Association Test for Survival Traits

(2014) Han Chen et al.   GENETIC EPIDEMIOLOGY

SorLA Complement-type Repeat Domains Protect the Amyloid Precursor Protein against Processing

(2014) Arnela Mehmedbasic et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Lysosomal Sorting of Amyloid-  by the SORLA Receptor Is Impaired by a Familial Alzheimer's Disease Mutation

(2014) S. Caglayan et al.   Science Translational Medicine

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

(2013) Jean-Charles Lambert et al.   NATURE GENETICS

SORL1 Is Genetically Associated with Late-Onset Alzheimer’s Disease in Japanese, Koreans and Caucasians

(2013) Akinori Miyashita et al.   PLoS One

TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions

(2013) Daehwan Kim et al.   GENOME BIOLOGY

National Institute on Aging–Alzheimer's Association guidelines for the neuropathologic assessment of Alzheimer's disease

(2012) Bradley T. Hyman et al.   Alzheimers & Dementia

Identification of Alzheimer Disease Risk Genotype That Predicts Efficiency of SORL1 Expression in the Brain

(2012) Safak Caglayan   ARCHIVES OF NEUROLOGY

RSeQC: quality control of RNA-seq experiments

(2012) Liguo Wang et al.   BIOINFORMATICS

Optimal tests for rare variant effects in sequencing association studies

(2012) S. Lee et al.   BIOSTATISTICS

A Pan-European Study of theC9orf72Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats

(2012) Julie van der Zee et al.   HUMAN MUTATION

Retromer Binds the FANSHY Sorting Motif in SorLA to Regulate Amyloid Precursor Protein Sorting and Processing

(2012) A. W. Fjorback et al.   JOURNAL OF NEUROSCIENCE

High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease

(2012) C Pottier et al.   MOLECULAR PSYCHIATRY

A new strategy to reduce allelic bias in RNA-Seq readmapping

(2012) Ravi Vijaya Satya et al.   NUCLEIC ACIDS RESEARCH

National Institute on Aging–Alzheimer’s Association guidelines for the neuropathologic assessment of Alzheimer’s disease: a practical approach

(2011) Thomas J. Montine et al.   ACTA NEUROPATHOLOGICA

The diagnosis of dementia due to Alzheimer’s disease: Recommendations from the National Institute on Aging-Alzheimer’s Association workgroups on diagnostic guidelines for Alzheimer's disease

(2011) Guy M. McKhann et al.   Alzheimers & Dementia

Meta-analysis of the Association Between Variants in SORL1 and Alzheimer Disease

(2011) Christiane Reitz   ARCHIVES OF NEUROLOGY

Autosomal Recessive Causes Likely in Early-Onset Alzheimer Disease

(2011) Thomas S. Wingo   ARCHIVES OF NEUROLOGY

A graphical interface for the FoldX forcefield

(2011) J. Van Durme et al.   BIOINFORMATICS

Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing

(2011) Joke Reumers et al.   NATURE BIOTECHNOLOGY

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

SORLA/SORL1, a Neuronal Sorting Receptor Implicated in Alzheimer's Disease

(2011) Thomas E. Willnow et al.   REVIEWS IN THE NEUROSCIENCES

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

VarScan: variant detection in massively parallel sequencing of individual and pooled samples

(2009) Daniel C. Koboldt et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

The Vps10p-domain receptor family

(2009) Guido Hermey   CELLULAR AND MOLECULAR LIFE SCIENCES

Molecular genetics of Alzheimer's disease: An update

(2008) Nathalie Brouwers et al.   ANNALS OF MEDICINE