Copy number variants implicate cardiac function and development pathways in earthquake-induced stress cardiomyopathy

Genome-wide association study in takotsubo syndrome — Preliminary results and future directions

(2017) Ingo Eitel et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Takotsubo syndrome and estrogen receptor genes

(2017) Gabriele Pizzino et al.   Journal of Cardiovascular Medicine

Drug-Induced Takotsubo Cardiomyopathy

(2017) Kazuhiko Kido et al.   JOURNAL OF CARDIOVASCULAR PHARMACOLOGY AND THERAPEUTICS

Analysis of β1 and β2-adrenergic receptors polymorphism in patients with apical ballooning cardiomyopathy

(2017) Olga Vriz et al.   ACTA CARDIOLOGICA

CTG-repeat expansions in the DMPK gene do not cause takotsubo syndrome

(2016) P.G. Bridgman et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Microarray testing in clinical diagnosis: an analysis of 5,300 New Zealand patients

(2016) Adrian Mc Cormack et al.   Molecular Cytogenetics

Survey of the Heritability and Sparse Architecture of Gene Expression Traits across Human Tissues

(2016) Heather E. Wheeler et al.   PLoS Genetics

Genetic markers of repolarization and arrhythmic events after acute coronary syndromes

(2015) N.J. Earle et al.   AMERICAN HEART JOURNAL

G-protein-coupled receptor kinase 5 polymorphism and Takotsubo cardiomyopathy

(2015) Giuseppina Novo et al.   Journal of Cardiovascular Medicine

RBFox1-mediated RNA splicing regulates cardiac hypertrophy and heart failure

(2015) Chen Gao et al.   JOURNAL OF CLINICAL INVESTIGATION

Clinical Features and Outcomes of Takotsubo (Stress) Cardiomyopathy

(2015) Christian Templin et al.   NEW ENGLAND JOURNAL OF MEDICINE

A novel miR-371a-5p-mediated pathway, leading to BAG3 upregulation in cardiomyocytes in response to epinephrine, is lost in Takotsubo cardiomyopathy

(2015) M d'Avenia et al.   Cell Death & Disease

Annexin A3 Regulates Early Blood Vessel Formation

(2015) Stryder M. Meadows et al.   PLoS One

A single pathophysiological pathway in Takotsubo cardiomyopathy: Catecholaminergic stress

(2014) Elisabeth Coupez et al.   Archives of Cardiovascular Diseases

Analysis of chromosomal structural variation in patients with congenital left-sided cardiac lesions

(2014) Peter S. White et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

A Highly Conserved Program of Neuronal Microexons Is Misregulated in Autistic Brains

(2014) Manuel Irimia et al.   CELL

Pathophysiology of Takotsubo Syndrome

(2014) Peter T. Wright et al.   CIRCULATION JOURNAL

Increased Frequency of De Novo Copy Number Variants in Congenital Heart Disease by Integrative Analysis of Single Nucleotide Polymorphism Array and Exome Sequence Data

(2014) Joseph T. Glessner et al.   CIRCULATION RESEARCH

Characterizing genetic variation of adrenergic signalling pathways in Takotsubo (stress) cardiomyopathy exomes

(2014) Adele H. Goodloe et al.   EUROPEAN JOURNAL OF HEART FAILURE

RBFOX and PTBP1 proteins regulate the alternative splicing of micro-exons in human brain transcripts

(2014) Yang I. Li et al.   GENOME RESEARCH

The Evolution of Reproduction-Related NLRP Genes

(2014) Edgar A. Duéñez-Guzmán et al.   JOURNAL OF MOLECULAR EVOLUTION

Broken heart syndrome — Is it a psychosomatic disorder?

(2014) Cameron Lacey et al.   JOURNAL OF PSYCHOSOMATIC RESEARCH

Grave aortic aneurysmal dilatation in DOCK8 deficiency

(2014) Muna Al Mutairi et al.   Modern Rheumatology

A polygenic burden of rare disruptive mutations in schizophrenia

(2014) Shaun M. Purcell et al.   NATURE

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Refining analyses of copy number variation identifies specific genes associated with developmental delay

(2014) Bradley P Coe et al.   NATURE GENETICS

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Investigating human disease using stem cell models

(2014) Jared L. Sterneckert et al.   NATURE REVIEWS GENETICS

Identification of a New Target of miR-16, Vacuolar Protein Sorting 4a

(2014) Neeta Adhikari et al.   PLoS One

Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohort

(2014) Wilson Wai Chong et al.   Molecular Cytogenetics

Daughter-Mother Tako-Tsubo Cardiomyopathy

(2013) Scott W. Sharkey et al.   AMERICAN JOURNAL OF CARDIOLOGY

Frequency of Takotsubo Cardiomyopathy in Postmenopausal Women Presenting With an Acute Coronary Syndrome

(2013) Fridolin Sy et al.   AMERICAN JOURNAL OF CARDIOLOGY

The NADH Oxidase ENOX1, a Critical Mediator of Endothelial Cell Radiosensitization, Is Crucial for Vascular Development

(2013) A. Venkateswaran et al.   CANCER RESEARCH

Effect of the Great East Japan Earthquake on Cardiovascular Diseases

(2013) Tatsuo Aoki et al.   CIRCULATION JOURNAL

Rare exonic deletions of theRBFOX1gene increase risk of idiopathic generalized epilepsy

(2013) Dennis Lal et al.   EPILEPSIA

A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes includingGRIN2AandPRRT2

(2013) Sarra Dimassi et al.   EPILEPSIA

No association of G-protein-coupled receptor kinase 5 or β-adrenergic receptor polymorphisms with Takotsubo cardiomyopathy in a large Australian cohort

(2013) Gemma A. Figtree et al.   EUROPEAN JOURNAL OF HEART FAILURE

Structural genomic variation in childhood epilepsies with complex phenotypes

(2013) Ingo Helbig et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features

(2013) Agatino Battaglia et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services

(2013) Jennifer L. Roberts et al.   GENE

Takotsubo cardiomyopathy in siblings

(2013) Masayasu Ikutomi et al.   HEART AND VESSELS

Genetic mutations and mechanisms in dilated cardiomyopathy

(2013) Elizabeth M. McNally et al.   JOURNAL OF CLINICAL INVESTIGATION

Inherited Arrhythmia Syndromes

(2013) Sumeet S. Chugh et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Stress-induced takotsubo cardiomyopathy in survivors of the 2011 Queensland floods

(2013) Stuart J Butterly et al.   MEDICAL JOURNAL OF AUSTRALIA

Rare autosomal copy number variations in early-onset familial Alzheimer’s disease

(2013) B V Hooli et al.   MOLECULAR PSYCHIATRY

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

The Database of Genomic Variants: a curated collection of structural variation in the human genome

(2013) Jeffrey R. MacDonald et al.   NUCLEIC ACIDS RESEARCH

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Acute Myocardial Infarction and Stress Cardiomyopathy following the Christchurch Earthquakes

(2013) Christina Chan et al.   PLoS One

Molecular determinants of PI3K -mediated activation downstream of G-protein-coupled receptors (GPCRs)

(2013) O. Vadas et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2013) Wei-Wei Zhao   Molecular Cytogenetics

Drug-induced Takotsubo Cardiomyopathy

(2013) Yasukatsu Izumi   Heart Failure Clinics

Takotsubo Cardiomyopathy

(2013) Scott W. Sharkey   Heart Failure Clinics

Takotsubo Cardiomyopathy

(2013) Giuseppe Limongelli et al.   Heart Failure Clinics

Prevalence of Takotsubo cardiomyopathy in the United States

(2012) Abhishek Deshmukh et al.   AMERICAN HEART JOURNAL

Stress-Induced Cardiomyopathy in Sweden: Evidence for Different Ethnic Predisposition and Altered Cardio-Circulatory Status

(2012) Tomas Schultz et al.   CARDIOLOGY

Stress Cardiomyopathy: A Syndrome of Catecholamine-Mediated Myocardial Stunning?

(2012) Ilan S. Wittstein   CELLULAR AND MOLECULAR NEUROBIOLOGY

Generation of patient-specific induced pluripotent stem cell-derived cardiomyocytes as a cellular model of arrhythmogenic right ventricular cardiomyopathy

(2012) Dongrui Ma et al.   EUROPEAN HEART JOURNAL

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Psychology of earthquake-induced stress cardiomyopathy, myocardial infarction and non-cardiac chest pain

(2012) J. A. Zarifeh et al.   INTERNAL MEDICINE JOURNAL

Simultaneous Takotsubo syndrome in two sisters

(2012) B. Musumeci et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Genetics of Hypertrophic Cardiomyopathy After 20 Years

(2012) Barry J. Maron et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

The non-human primate reference transcriptome resource (NHPRTR) for comparative functional genomics

(2012) Lenore Pipes et al.   NUCLEIC ACIDS RESEARCH

Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways

(2012) Candice K. Silversides et al.   PLoS Genetics

Rare Copy Number Variants Contribute to Congenital Left-Sided Heart Disease

(2012) Marc-Phillip Hitz et al.   PLoS Genetics

The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits

(2012) Benjamin F. Voight et al.   PLoS Genetics

Rare copy number variants are an important cause of epileptic encephalopathies

(2011) Heather C. Mefford et al.   ANNALS OF NEUROLOGY

Incidence and angiographic characteristics of patients With apical ballooning syndrome (takotsubo/stress cardiomyopathy) in the HORIZONS-AMI trial

(2011) Abhiram Prasad et al.   CATHETERIZATION AND CARDIOVASCULAR INTERVENTIONS

miR-15 Family Regulates Postnatal Mitotic Arrest of Cardiomyocytes

(2011) Enzo R. Porrello et al.   CIRCULATION RESEARCH

Inhibition of miR-15 Protects Against Cardiac Ischemic Injury

(2011) Thomas G. Hullinger et al.   CIRCULATION RESEARCH

Genomic Risk Variants at 1p13.3, 1q41, and 3q22.3 Are Associated With Subsequent Cardiovascular Outcomes in Healthy Controls and in Established Coronary Artery Disease

(2011) Katrina L. Ellis et al.   Circulation-Cardiovascular Genetics

Towards an evidence-based process for the clinical interpretation of copy number variation

(2011) ER Riggs et al.   CLINICAL GENETICS

Challenges of Interpreting Copy Number Variation in Syndromic and Non-Syndromic Congenital Heart Defects

(2011) J. Breckpot et al.   CYTOGENETIC AND GENOME RESEARCH

A Case of Recurrent Earthquake Stress Cardiomyopathy with a Differing Wall Motion Abnormality

(2011) Paul G. Bridgman et al.   ECHOCARDIOGRAPHY-A JOURNAL OF CARDIOVASCULAR ULTRASOUND AND ALLIED TECHNIQUES

Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics

(2011) Nicolien M Hanemaaijer et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Complex Congenital Heart Defects in Association with Maternal Diabetes and Partial Deletion of theA2BP1Gene

(2011) Seema Lale et al.   Fetal and Pediatric Pathology

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

(2011) Hutton M Kearney et al.   GENETICS IN MEDICINE

Mapping copy number variation by population-scale genome sequencing

(2011) Ryan E. Mills et al.   NATURE

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning

(2011) K. A. Fakhro et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2010) A. McKenna et al.   GENOME RESEARCH

The t(X;6) in subungual exostosis results in transcriptional deregulation of the gene for insulin receptor substrate 4

(2010) Fredrik Mertens et al.   INTERNATIONAL JOURNAL OF CANCER

Pre-Morbid Psychiatric and Cardiovascular Diseases in Apical Ballooning Syndrome (Tako-Tsubo/Stress-Induced Cardiomyopathy)

(2010) Matthew R. Summers et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Natural History and Expansive Clinical Profile of Stress (Tako-Tsubo) Cardiomyopathy

(2010) Scott W. Sharkey et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Screening for Copy Number Variation in Genes Associated With the Long QT Syndrome

(2010) Julien Barc et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

The minor allele of GP6 T13254C is associated with decreased platelet activation and a reduced risk of recurrent cardiovascular events and mortality: results from the SMILE-Platelets project

(2010) J. D. SNOEP et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Mechanisms of stress (Takotsubo) cardiomyopathy

(2010) Holger M. Nef et al.   Nature Reviews Cardiology

Genome-Wide Association Study Identifies GPC5 as a Novel Genetic Locus Protective against Sudden Cardiac Arrest

(2010) Dan E. Arking et al.   PLoS One

Microarray-Based Maps of Copy-Number Variant Regions in European and Sub-Saharan Populations

(2010) Christian Vogler et al.   PLoS One

Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH

(2010) Nicholas J Neill et al.   Molecular Cytogenetics

Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences

(2010) Jeremy Goecks et al.   GENOME BIOLOGY

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

L41Q polymorphism of the G protein coupled receptor kinase 5 is associated with left ventricular apical ballooning syndrome

(2009) Letizia Spinelli et al.   EUROPEAN JOURNAL OF HEART FAILURE

High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications

(2009) T. H. Shaikh et al.   GENOME RESEARCH

The impact of natural disasters on myocardial infarction

(2009) A. Steptoe   HEART

Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region

(2009) J. Coppinger et al.   HUMAN MOLECULAR GENETICS

“Familial” apical ballooning syndrome (Takotsubo cardiomyopathy)

(2009) Gautam Kumar et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome

(2009) Karin R. Engelhardt et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Investigating genetic variation of adrenergic receptors in familial stress cardiomyopathy (apical ballooning syndrome)

(2009) Adele D. Handy et al.   Journal of Cardiology

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Apical ballooning syndrome (Tako-Tsubo or stress cardiomyopathy): A mimic of acute myocardial infarction

(2008) Abhiram Prasad et al.   AMERICAN HEART JOURNAL

Clinical variability of the 22q11.2 duplication syndrome

(2008) Christian Wentzel et al.   European Journal of Medical Genetics

Transient apical ballooning syndrome — clinical characteristics, ballooning pattern, and long-term follow-up in a Swiss population

(2008) Parham Eshtehardi et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Adrenergic receptor polymorphisms in patients with stress (tako-tsubo) cardiomyopathy

(2008) Scott W. Sharkey et al.   Journal of Cardiology

A new type of ERK1/2 autophosphorylation causes cardiac hypertrophy

(2008) Kristina Lorenz et al.   NATURE MEDICINE

Takotsubo cardiomyopathy or transient left ventricular apical ballooning syndrome: A systematic review

(2007) Thomas M. Pilgrim et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY