Evidence of epistasis in regions of long-range linkage disequilibrium across five complex diseases in the UK Biobank and eMERGE datasets

Complex effects on CaV2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorder

(2022) Benjamin J. Grosso et al.   Scientific Reports

Epistatic selection on a selfish Segregation Distorter supergene – drive, recombination, and genetic load

(2022) Beatriz Navarro-Dominguez et al.   eLife

Ontology Specific Alternative Splicing Changes in Alzheimer’s Disease

(2022) Yanjun Lu et al.   Frontiers in Genetics

Copy Number Analyses Identified a Novel Gene: APOBEC3A Related to Lipid Metabolism in the Pathogenesis of Preeclampsia

(2022) Nan Liu et al.   Frontiers in Cardiovascular Medicine

Dynamic molecular evolution of a supergene with suppressed recombination in white-throated sparrows

(2022) Hyeonsoo Jeong et al.   eLife

Bardet–Biedl Syndrome ciliopathy is linked to altered hematopoiesis and dysregulated self‐tolerance

(2021) Oksana Tsyklauri et al.   EMBO REPORTS

Latrophilin GPCR signaling mediates synapse formation

(2021) Richard Sando et al.   eLife

LocusZoom.js: interactive and embeddable visualization of genetic association study results

(2021) Andrew P Boughton et al.   BIOINFORMATICS

LRRC4 functions as a neuron-protective role in experimental autoimmune encephalomyelitis

(2021) Yan Zhang et al.   MOLECULAR MEDICINE

Psoriasis and Diabetes, a Dangerous Association: Evaluation of Insulin Resistance, Lipid Abnormalities, and Cardiovascular Risk Biomarkers

(2021) Valeria Brazzelli et al.   Frontiers in Medicine

HLA class I genes modulate disease risk and age at onset together with DR-DQ in Chinese patients with insulin-requiring type 1 diabetes

(2021) Ziyu Jiang et al.   DIABETOLOGIA

New Insights into Multiple Sclerosis Mechanisms: Lipids on the Track to Control Inflammation and Neurodegeneration

(2021) Maria Podbielska et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

LPHN2 inhibits vascular permeability by differential control of endothelial cell adhesion

(2021) Chiara Camillo et al.   JOURNAL OF CELL BIOLOGY

Expression of FLRT2 in Postnatal Central Nervous System Development and After Spinal Cord Injury

(2021) Juntan Li et al.   Frontiers in Molecular Neuroscience

Human and mouse essentiality screens as a resource for disease gene discovery

(2020) Pilar Cacheiro et al.   Nature Communications

The Human Leukocyte Antigen Locus and Rheumatic Heart Disease Susceptibility in South Asians and Europeans

(2020) Kathryn Auckland et al.   Scientific Reports

Apremilast Regulates the Teff/Treg Balance to Ameliorate Uveitis via PI3K/AKT/FoxO1 Signaling Pathway

(2020) Yuxi Chen et al.   Frontiers in Immunology

Thinking About the Evolution of Complex Traits in the Era of Genome-Wide Association Studies

(2019) Guy Sella et al.   Annual Review of Genomics and Human Genetics

The Gut Microbiota in Multiple Sclerosis: An Overview of Clinical Trials

(2019) Giovanni Schepici et al.   CELL TRANSPLANTATION

Dyslipidemia in retinal metabolic disorders

(2019) Zhongjie Fu et al.   EMBO Molecular Medicine

Phenotypic variability can promote the evolution of adaptive plasticity by reducing the stringency of natural selection

(2019) Jeremy Draghi   JOURNAL OF EVOLUTIONARY BIOLOGY

Population-specific long-range linkage disequilibrium in the human genome and its influence on identifying common disease variants

(2019) Leeyoung Park   Scientific Reports

NGL-1/LRRC4C-Mutant Mice Display Hyperactivity and Anxiolytic-Like Behavior Associated With Widespread Suppression of Neuronal Activity

(2019) Yeonsoo Choi et al.   Frontiers in Molecular Neuroscience

Genome-wide significant risk factors on chromosome 19 and the APOE locus

(2018) Sonia Moreno-Grau Moreno-Grau et al.   Oncotarget

Interchromosomal interactions: A genomic love story of kissing chromosomes

(2018) Philipp G. Maass et al.   JOURNAL OF CELL BIOLOGY

FUT2 Variants Confer Susceptibility to Familial Otitis Media

(2018) Regie Lyn P. Santos-Cortez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Atypical GATA transcription factor TRPS1 represses gene expression by recruiting CHD4/NuRD(MTA2) and suppresses cell migration and invasion by repressing TP63 expression

(2018) Yuzhi Wang et al.   Oncogenesis

Widespread Cumulative Influence of Small Effect Size Mutations on Yeast Quantitative Traits

(2018) Bo Hua et al.   Cell Systems

The ubiquity of pleiotropy in human disease

(2017) Kevin Chesmore et al.   HUMAN GENETICS

Neuron-enriched RNA-binding Proteins Regulate Pancreatic Beta Cell Function and Survival

(2017) Jonàs Juan-Mateu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Male factor infertility and risk of multiple sclerosis: A register-based cohort study

(2017) Clara Helene Glazer et al.   Multiple Sclerosis Journal

Developmentally regulated alternative splicing is perturbed in type 1 diabetic skeletal muscle

(2017) Curtis A. Nutter et al.   MUSCLE & NERVE

Association of Fucosyltransferase 2 Gene Polymorphisms with Inflammatory Bowel Disease in Patients from Southeast China

(2017) Hao Wu et al.   Gastroenterology Research and Practice

Association of HLA-DRB1 polymorphism with Alzheimer’s disease: a replication and meta-analysis

(2017) Rui-Chun Lu et al.   Oncotarget

Male factor infertility and risk of multiple sclerosis: A register-based cohort study

(2017) Clara Helene Glazer et al.   Multiple Sclerosis Journal

Low-Density Lipoprotein Receptor Deficiency Attenuates Neuroinflammation through the Induction of Apolipoprotein E

(2017) Jo Mailleux et al.   Frontiers in Immunology

Evaluating phecodes, clinical classification software, and ICD-9-CM codes for phenome-wide association studies in the electronic health record

(2017) Wei-Qi Wei et al.   PLoS One

Implication ofLRRC4CandDPP6in neurodevelopmental disorders

(2016) Gilles Maussion et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Rbfox Proteins Regulate Splicing as Part of a Large Multiprotein Complex LASR

(2016) Andrey Damianov et al.   CELL

Phosphodiesterase 4 in inflammatory diseases: Effects of apremilast in psoriatic blood and in dermal myofibroblasts through the PDE4/CD271 complex

(2016) Peter H. Schafer et al.   CELLULAR SIGNALLING

A reference panel of 64,976 haplotypes for genotype imputation

(2016)   NATURE GENETICS

Increased burden of deleterious variants in essential genes in autism spectrum disorder

(2016) Xiao Ji et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms

(2015) Lena Damaj et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Ion channels, guidance molecules, intracellular signaling and transcription factors regulating nervous and vascular system development

(2015) Tenpei Akita et al.   Journal of Physiological Sciences

Understanding multicellular function and disease with human tissue-specific networks

(2015) Casey S Greene et al.   NATURE GENETICS

UK Biobank: An Open Access Resource for Identifying the Causes of a Wide Range of Complex Diseases of Middle and Old Age

(2015) Cathie Sudlow et al.   PLOS MEDICINE

Supergenes and their role in evolution

(2014) M J Thompson et al.   HEREDITY

Why epistasis is important for tackling complex human disease genetics

(2014) Trudy FC Mackay et al.   Genome Medicine

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

Epistasis and quantitative traits: using model organisms to study gene–gene interactions

(2013) Trudy F. C. Mackay   NATURE REVIEWS GENETICS

Long Range Linkage Disequilibrium across the Human Genome

(2013) Evan Koch et al.   PLoS One

Intragenic deletion of RBFOX1 associated with neurodevelopmental/neuropsychiatric disorders and possibly other clinical presentations

(2013) Wei-Wei Zhao   Molecular Cytogenetics

Fine-Mapping the Genetic Association of the Major Histocompatibility Complex in Multiple Sclerosis: HLA and Non-HLA Effects

(2013) Nikolaos A. Patsopoulos et al.   PLoS Genetics

Modulation of T Lymphocyte Calcium Influx Patterns Via the Inhibition of Kv1.3 and Ikca1 Potassium Channels in Autoimmune Disorders

(2013) Csaba Orbán et al.   Frontiers in Immunology

Inter-chromosomal level of genome organization and longevity-related phenotypes in humans

(2012) Alexander M. Kulminski et al.   AGE

Combined Analysis of Genome-wide Association Studies for Crohn Disease and Psoriasis Identifies Seven Shared Susceptibility Loci

(2012) David Ellinghaus et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Pairing of Homologous Regions in the Mouse Genome Is Associated with Transcription but Not Imprinting Status

(2012) Christel Krueger et al.   PLoS One

Epistasis dominates the genetic architecture of Drosophila quantitative traits

(2012) W. Huang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Homologous chromosomes make contact at the sites of double-strand breaks in genes in somatic G0/G1-phase human cells

(2012) M. Gandhi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The many faces of pleiotropy

(2012) Annalise B. Paaby et al.   TRENDS IN GENETICS

A novel autoantibody against fibronectin leucine-rich transmembrane protein 2 expressed on the endothelial cell surface identified by retroviral vector system in systemic lupus erythematosus

(2012) Tsuyoshi Shirai et al.   ARTHRITIS RESEARCH & THERAPY

Abundant Pleiotropy in Human Complex Diseases and Traits

(2011) Shanya Sivakumaran et al.   AMERICAN JOURNAL OF HUMAN GENETICS

β-Cell evolution: How the pancreas borrowed from the brain

(2011) Margot E. Arntfield et al.   BIOESSAYS

The role of the Giemsa stain in cytogenetics

(2011) M Dolan   BIOTECHNIC & HISTOCHEMISTRY

FUT2 Nonsecretor Status Links Type 1 Diabetes Susceptibility and Resistance to Infection: TABLE 1

(2011) Deborah J. Smyth et al.   DIABETES

Mouse FLRT2 Interacts with the Extracellular and Intracellular Regions of FGFR2

(2011) K. Wei et al.   JOURNAL OF DENTAL RESEARCH

The Small Heat Shock Protein ODF1/HSPB10 Is Essential for Tight Linkage of Sperm Head to Tail and Male Fertility in Mice

(2011) K. Yang et al.   MOLECULAR AND CELLULAR BIOLOGY

Chromosomal rearrangements maintain a polymorphic supergene controlling butterfly mimicry

(2011) Mathieu Joron et al.   NATURE

Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4

(2011)   NATURE GENETICS

FastEpistasis: a high performance computing solution for quantitative trait epistasis

(2010) Thierry Schüpbach et al.   BIOINFORMATICS

Axonal Damage in Leukodystrophies

(2010) Soe Mar et al.   PEDIATRIC NEUROLOGY

Apremilast: a novel PDE4 inhibitor in the treatment of autoimmune and inflammatory diseases

(2010) Georg Schett et al.   Therapeutic Advances in Musculoskeletal Disease

Shadows of complexity: what biological networks reveal about epistasis and pleiotropy

(2009) Anna L. Tyler et al.   BIOESSAYS

The role of the PDE4D cAMP phosphodiesterase in the regulation of glucagon-like peptide-1 release

(2009) WK Ong et al.   BRITISH JOURNAL OF PHARMACOLOGY

Spatially Uniform ReliefF (SURF) for computationally-efficient filtering of gene-gene interactions

(2009) Casey S Greene et al.   BioData Mining

Common variants of FUT2 are associated with plasma vitamin B12 levels

(2008) Aditi Hazra et al.   NATURE GENETICS

Epistasis — the essential role of gene interactions in the structure and evolution of genetic systems

(2008) Patrick C. Phillips   NATURE REVIEWS GENETICS

Linkage disequilibrium — understanding the evolutionary past and mapping the medical future

(2008) Montgomery Slatkin   NATURE REVIEWS GENETICS