A5023752531- Genetic Associations and Epidemiology
- HER2/EGFR in Cancer Research
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Chemotherapy-induced cardiotoxicity and mitigation
- Monoclonal and Polyclonal Antibodies Research
- Genomics and Rare Diseases
- Cardiomyopathy and Myosin Studies
- Congenital heart defects research
- Bipolar Disorder and Treatment
- Autism Spectrum Disorder Research
- Receptor Mechanisms and Signaling
- Neurotransmitter Receptor Influence on Behavior
- Cancer Immunotherapy and Biomarkers
- Cardiovascular Effects of Exercise
- Immunotherapy and Immune Responses
- Breast Cancer Treatment Studies
- Glycosylation and Glycoproteins Research
- RNA Research and Splicing
- Peptidase Inhibition and Analysis
- RNA and protein synthesis mechanisms
- Ion channel regulation and function
- PARP inhibition in cancer therapy
- Cancer Genomics and Diagnostics
- RNA modifications and cancer
Mayo Clinic in Florida
2015-2024
WinnMed
2013-2024
Jacksonville College
2013-2024
Nemours Children's Clinic
2014-2024
Columbia University Irving Medical Center
2023
Vaccine & Gene Therapy Institute of Florida
2023
Nemours Children’s Clinic
2013-2022
Cancer Clinic
2018
Centre for Cancer Biology
2000-2017
Institute of Cancer Research
2016
We investigated the involvement of rare (<1%) copy number variants (CNVs) in 471 cases schizophrenia and 2792 controls that had been genotyped using Affymetrix GeneChip® 500K Mapping Array. Large CNVs >1 Mb were 2.26 times more common (P = 0.00027), with effect coming mostly from deletions (odds ratio, OR 4.53, P 0.00013) although duplications also (OR 1.71, 0.04). Two large found two each, but no controls: a deletion at 22q11.2 known to be susceptibility factor for on 17p12, 14.0–15.4 Mb....
Copy number variations (CNVs) account for a substantial proportion of human genomic variation, and have been shown to cause neurodevelopmental disorders.We sought determine the relevance CNVs aetiology schizophrenia (SZ).Whole-genome, high-resolution, tiling path BAC array comparative hybridization (array CGH) was employed test DNA from 93 individuals with DSM-IV SZ.Common copy changes that are unlikely be directly pathogenic in SZ were filtered out by comparison reference dataset 372...
<h3>Importance</h3> The use of sacubitril/valsartan is not endorsed by practice guidelines for in patients with New York Heart Association class IV heart failure a reduced ejection fraction because limited clinical experience this population. <h3>Objective</h3> To compare treatment valsartan advanced and recent symptoms. <h3>Design, Setting, Participants</h3> A double-blind randomized trial was conducted; total 335 were included. began on March 2, 2017, stopped early 23, 2020, owing to...
We have genotyped 292 affected sibling pairs (ASPs) with Alzheimer's disease (AD) according to NINCDS-ADRDA diagnostic criteria and onset ages of >/=65 years using 237 microsatellite markers separated by an average distance 16.3 cM. Data were analysed SPLINK MAPMAKER/SIBS on the whole sample ASPs subsets 162 where both members possessed apolipoprotein E (APOE)straightepsilon4 allele 63 neither anstraightepsilon4 allele. Sixteen peaks a multipoint lod score (MLS) >1 either in sample,...
Background— Rare variants in >30 genes have been shown to cause idiopathic or familial dilated cardiomyopathy (DCM), but the frequency of genetic causation remains poorly understood. We previously resequenced 9 a cohort DCM probands for rare variants, and now we report resequencing results 5 more with established relationships DCM. Methods Results— Blood samples were collected, DNA specimens prepared from 312 patients, 181 131 Genomic underwent bidirectional sequencing, additional family...
Abstract We performed a two‐stage genome screen to search for novel risk factors late‐onset Alzheimer disease (AD). The first stage involved genotyping 292 affected sibling pairs using 237 markers spaced at approximately 20 cM intervals throughout the genome. In second stage, we genotyped 451 (ASPs) with an additional 91 markers, in 16 regions where multipoint LOD score was greater than 1 I. Ten maintained scores excess of II, on chromosomes (peak B), 5, 6, 9 (peaks A and 10, 12, 19, 21, X....
The term peripartum cardiomyopathy (PPCM) describes dilated (DCM) without known cause that occurs during the last month of pregnancy to 5 months postpartum. A related term, pregnancy-associated (PACM), refers DCM onset earlier in pregnancy. Multiple studies have focused on inflammatory, immunologic, and environmental causes. An alternative hypothesis is PPCM PACM result, part, from a genetic cause. In this study, we sought test rare DCM-associated mutations underlie proportion or cases.A...
Context: Recent research suggests that variation in the gene encoding dystrobrevin binding protein (DTNBP1) confers susceptibility to schizophrenia.Thus far, no specific risk haplotype has been identified more than 1 study.Objectives: To confirm DTNBP1 as a schizophrenia gene, identify and replicate protective haplotypes, explore relationships between phenotype.Design: Genetic association study based on mutation detection case-control analysis.Setting: All subjects were unrelated ascertained...
<h3>Context</h3> Traditionally, the search for genes involved in predisposition to major psychoses has proceeded with separate studies of schizophrenia and bipolar disorder. However, twin data suggest that, addition specificity these phenotypes, there exist that simultaneously influence susceptibility schizophrenia, disorder, schizoaffective <h3>Objective</h3> To undertake, our knowledge, first systematic such loci. <h3>Design</h3> Genomewide linkage scan. <h3>Setting</h3> Affected...
Abstract There is now strong evidence that Neuregulin 1 (NRG1) a susceptibility gene for schizophrenia. NRG1 mediates some of its effects through the tyrosine kinase receptor erbB4, and analysis knock‐out animals suggests functional interaction erbB4 behaviors may model aspects schizophrenia phenotype in mice. Given these findings, we have sought association between erbB4. Mutation screening 14 DSMIV schizophrenics revealed 15 SNPs, none which were nonsynonymous. Analysis allele frequencies...
Abstract The genetic basis of most dilated cardiomyopathy (DCM) cases remains unknown. A recent study indicated that mutations in a highly localized five amino acid hotspot exon 9 RBM20 , gene encoding ribonucleic acid‐binding protein, caused aggressive DCM. We undertook this to confi rm and extend the nature another DCM cohort. Clinical cardiovascular data, family histories, blood samples were collected from patients with idiopathic DNA 312 probands was sequenced for nucleotide alterations...
Genetic variations might modify associations between schizophrenia and cannabis or tobacco use.To examine whether variants within the cannabinoid receptor (CNR1) alpha(7) nicotinic (CHRNA7) genes are associated with schizophrenia, these effects vary according to use. We also examined a putative interaction Val(158)Met catechol-O-methyltransferase gene (COMT).Genotype of CHRNA7 CNR1were studied in case-control sample 750 individuals 688 controls, interactions for small subsamples. A case-only...
<h3>Context</h3> The Zinc Finger Protein 804A gene (<i>ZNF804A</i>) has been implicated in schizophrenia susceptibility by several genome-wide association studies.<i>ZNF804A</i>is brain expressed but of unknown function. <h3>Objective</h3> To investigate whether the identified risk allele at disease-associated single nucleotide polymorphism rs1344706 is associated with variation neuropsychological performance patients and controls. <h3>Design</h3> Comparison cases controls grouped according...
Human exome sequencing is a recently developed tool to aid in the discovery of novel coding variants. Now broadly applied, data sets provide opportunity evaluate allele frequencies previously published pathogenic rare variants.We examined set from National Heart, Lung and Blood Institute Exome Sequencing Project compared this with catalog 197 variants reported as causative dilated cardiomyopathy (DCM) familial sporadic cases. Of these 197, 33 (16.8%) were also present database, raising...
BACKGROUND- Familial dilated cardiomyopathy (DCM) is a genetically heterogeneous disease with >30 known genes. TTN truncating variants were recently implicated in candidate gene study to cause 25% of familial and 18% sporadic DCM cases. METHODS AND RESULTS- We used an unbiased genome-wide approach using both linkage analysis variant filtering across the exome sequences 48 individuals affected from 17 families identify genetic cause. Linkage ranked region as falling under second highest...
Anthracycline-induced cardiotoxicity (ACT) is a key limiting factor in setting optimal chemotherapy regimes, with almost half of patients expected to develop congestive heart failure given high doses. However, the genetic basis sensitivity anthracyclines remains unclear. We created panel iPSC-derived cardiomyocytes from 45 individuals and performed RNA-seq after 24 hr exposure varying doxorubicin dosages. The transcriptomic response substantial: majority genes are differentially expressed...