Association of variants in HTRA1 and NOTCH3 with MRI-defined extremes of cerebral small vessel disease in older subjects

Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes

(2018) Rainer Malik et al.   NATURE GENETICS

Cerebrovascular Disease Knowledge Portal

(2018) Katherine M. Crawford et al.   STROKE

Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls

(2017) Céline Bellenguez et al.   NEUROBIOLOGY OF AGING

Differential associations of plasma lipids with incident dementia and dementia subtypes in the 3C Study: A longitudinal, population-based prospective cohort study

(2017) Sabrina Schilling et al.   PLOS MEDICINE

Incidental findings of uncertain significance: To know or not to know - that is not the question

(2016) Bjørn Hofmann   BMC Medical Ethics

Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping:in vitroproof of concept

(2016) Julie W. Rutten et al.   BRAIN

Loci associated with ischaemic stroke and its subtypes (SiGN): a genome-wide association study

(2016) Sara L Pulit et al.   LANCET NEUROLOGY

The genetic architecture of type 2 diabetes

(2016) Christian Fuchsberger et al.   NATURE

ArchetypalNOTCH3mutations frequent in public exome: implications for CADASIL

(2016) Julie W. Rutten et al.   Annals of Clinical and Translational Neurology

HeterozygousHTRA1mutations are associated with autosomal dominant cerebral small vessel disease

(2015) Edgard Verdura et al.   BRAIN

Exome Sequencing in Suspected Monogenic DyslipidemiasCLINICAL PERSPECTIVE

(2015) Nathan O. Stitziel et al.   Circulation-Cardiovascular Genetics

Multiethnic Genome-Wide Association Study of Cerebral White Matter Hyperintensities on MRICLINICAL PERSPECTIVE

(2015) Benjamin F.J. Verhaaren et al.   Circulation-Cardiovascular Genetics

Phenotypic extremes in rare variant study designs

(2015) Gina M Peloso et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Towards a European consensus for reporting incidental findings during clinical NGS testing

(2015) Jayne Y Hehir-Kwa et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature

(2015) Marije E. C. Meuwissen et al.   GENETICS IN MEDICINE

Genome-wide meta-analysis of cerebral white matter hyperintensities in patients with stroke

(2015) Matthew Traylor et al.   NEUROLOGY

Common variation in COL4A1/COL4A2 is associated with sporadic cerebral small vessel disease

(2015) K. Rannikmae et al.   NEUROLOGY

ClinVar: public archive of interpretations of clinically relevant variants

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

The human transcriptome across tissues and individuals

(2015) M. Mele et al.   SCIENCE

Genetic Architecture of Lacunar Stroke

(2015) Matthew Traylor et al.   STROKE

Exome Sequencing in Suspected Monogenic DyslipidemiasCLINICAL PERSPECTIVE

(2015) Nathan O. Stitziel et al.   Circulation-Cardiovascular Genetics

Multiethnic Genome-Wide Association Study of Cerebral White Matter Hyperintensities on MRICLINICAL PERSPECTIVE

(2015) Benjamin F.J. Verhaaren et al.   Circulation-Cardiovascular Genetics

Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol

(2014) Leslie A. Lange et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutational Screening of NOTCH3 Gene Reveals Two Novel Mutations: Complexity of CADASIL Diagnosis

(2014) Lorena Mosca et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy

(2014) Bence Gunda et al.   JOURNAL OF NEUROLOGY

Plasma  -amyloid and MRI markers of cerebral small vessel disease: Three-City Dijon Study

(2014) S. Kaffashian et al.   NEUROLOGY

Cerebral small vessel disease-related protease HtrA1 processes latent TGF-β binding protein 1 and facilitates TGF-β signaling

(2014) Nathalie Beaufort et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

VEGAS2: Software for More Flexible Gene-Based Testing

(2014) Aniket Mishra et al.   Twin Research and Human Genetics

Abnormal recruitment of extracellular matrix proteins by excess Notch3ECD: a new pathomechanism in CADASIL

(2013) Marie Monet-Leprêtre et al.   BRAIN

Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology

(2013) Catharina Steentoft et al.   EMBO JOURNAL

Neuroimaging standards for research into small vessel disease and its contribution to ageing and neurodegeneration

(2013) Joanna M Wardlaw et al.   LANCET NEUROLOGY

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease

(2013) Carlos Cruchaga et al.   NATURE

The heterotaxy gene GALNT11 glycosylates Notch to orchestrate cilia type and laterality

(2013) Marko T. Boskovski et al.   NATURE

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

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

Systematic identification of trans eQTLs as putative drivers of known disease associations

(2013) Harm-Jan Westra et al.   NATURE GENETICS

The Impact of Phenotypic and Genetic Heterogeneity on Results of Genome Wide Association Studies of Complex Diseases

(2013) Mirko Manchia et al.   PLoS One

Optimal tests for rare variant effects in sequencing association studies

(2012) S. Lee et al.   BIOSTATISTICS

Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test

(2011) Michael C. Wu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genome-wide association studies of cerebral white matter lesion burden

(2011) Myriam Fornage et al.   ANNALS OF NEUROLOGY

Genetic variants of the NOTCH3 gene in the elderly and magnetic resonance imaging correlates of age-related cerebral small vessel disease

(2011) H. Schmidt et al.   BRAIN

HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants

(2011) L. D. Ward et al.   NUCLEIC ACIDS RESEARCH

Rumi functions as both a protein O-glucosyltransferase and a protein O-xylosyltransferase

(2011) H. Takeuchi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

METAL: fast and efficient meta-analysis of genomewide association scans

(2010) C. J. Willer et al.   BIOINFORMATICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

Cerebral small vessel disease: from pathogenesis and clinical characteristics to therapeutic challenges

(2010) Leonardo Pantoni   LANCET NEUROLOGY

Phenotypic Complexity, Measurement Bias, and Poor Phenotypic Resolution Contribute to the Missing Heritability Problem in Genetic Association Studies

(2010) Sophie van der Sluis et al.   PLoS One

COL4A1 Mutations as a Monogenic Cause of Cerebral Small Vessel Disease

(2010) Silvia Lanfranconi et al.   STROKE

Severity of Dilated Virchow-Robin Spaces Is Associated With Age, Blood Pressure, and MRI Markers of Small Vessel Disease

(2010) Yi-Cheng Zhu et al.   STROKE

Genome-Wide Association Studies of MRI-Defined Brain Infarcts

(2010) Stéphanie Debette et al.   STROKE

Bivariate Heritability of Total and Regional Brain Volumes

(2009) Anita L. DeStefano et al.   ALZHEIMER DISEASE & ASSOCIATED DISORDERS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease

(2009) Kenju Hara et al.   NEW ENGLAND JOURNAL OF MEDICINE

O-LinkedN-Acetylglucosamine Is Present on the Extracellular Domain of Notch Receptors

(2008) Aiko Matsuura et al.   JOURNAL OF BIOLOGICAL CHEMISTRY