A5045341602- Tuberculosis Research and Epidemiology
- SARS-CoV-2 detection and testing
- Genomic variations and chromosomal abnormalities
- Biosensors and Analytical Detection
- Mycobacterium research and diagnosis
- Genomics and Rare Diseases
- Advanced biosensing and bioanalysis techniques
- SARS-CoV-2 and COVID-19 Research
- Pneumocystis jirovecii pneumonia detection and treatment
- Congenital heart defects research
- Bacterial Identification and Susceptibility Testing
- Diagnosis and treatment of tuberculosis
- Genetic Associations and Epidemiology
- Pneumonia and Respiratory Infections
- Mosquito-borne diseases and control
- Cancer Genomics and Diagnostics
- Infectious Diseases and Tuberculosis
- Parathyroid Disorders and Treatments
- Prenatal Screening and Diagnostics
- COVID-19 diagnosis using AI
- Malaria Research and Control
- Adipokines, Inflammation, and Metabolic Diseases
- Regulation of Appetite and Obesity
- Genetics and Neurodevelopmental Disorders
- COVID-19 Clinical Research Studies
Foundation for Innovative New Diagnostics
2018-2025
Digital Research Alliance of Canada
2023
Vita-Salute San Raffaele University
2021
University of Lausanne
2012-2018
SIB Swiss Institute of Bioinformatics
2012-2018
Institute of Social and Preventive Medicine
2016-2018
University Hospital of Lausanne
2016-2018
Pennington Biomedical Research Center
2013
Southern General Hospital
2009
Monklands Hospital
2008
<h3>Background</h3> The recurrent ∼600 kb 16p11.2 BP4-BP5 deletion is among the most frequent known genetic aetiologies of autism spectrum disorder (ASD) and related neurodevelopmental disorders. <h3>Objective</h3> To define medical, neuropsychological, behavioural phenotypes in carriers this deletion. <h3>Methods</h3> We collected clinical data on 285 performed detailed evaluations 72 68 intrafamilial non-carrier controls. <h3>Results</h3> When compared to controls, full scale intelligence...
The 16p11.2 BP4-BP5 duplication is the copy number variant most frequently associated with autism spectrum disorder (ASD), schizophrenia, and comorbidities such as decreased body mass index (BMI).To characterize effects of on cognitive, behavioral, medical, anthropometric traits to understand specificity these by systematically comparing results in carriers reciprocal deletion carriers, who are also at risk for ASD.This international cohort study 1006 participants compared 270 their 102...
BackgroundMost tuberculosis-related deaths in people with HIV could be prevented earlier diagnosis and treatment. The only commercially available tuberculosis point-of-care test (Alere Determine TB LAM Ag [AlereLAM]) has suboptimal sensitivity, which restricts its use clinical practice. novel Fujifilm SILVAMP (FujiLAM) assay been developed to improve the sensitivity of AlereLAM. We assessed diagnostic accuracy FujiLAM for detection hospital inpatients compared AlereLAM assay.MethodsFor this...
<h3>Importance</h3> The association of copy number variations (CNVs), differing numbers copies genetic sequence at locations in the genome, with phenotypes such as intellectual disability has been almost exclusively evaluated using clinically ascertained cohorts. contribution these variants to cognitive general population remains unclear. <h3>Objective</h3> To investigate clinical features conferred by CNVs associated known syndromes adult carriers without preselection and assess genome-wide...
Background Bringing reliable and accurate tuberculosis (TB) diagnosis closer to patients is a key priority for global TB control. Molbio Diagnostics have developed the Truenat point-of-care molecular assays detection of rifampicin (RIF) resistance. Methods We conducted prospective multicentre diagnostic accuracy study at 19 primary healthcare centres seven reference laboratories in Peru, India, Ethiopia Papua New Guinea estimate MTB, MTB Plus MTB-RIF Dx pulmonary using culture phenotypic...
ABSTRACT Background SARS-CoV-2 antigen rapid diagnostic tests (Ag-RDTs) are increasingly being integrated in testing strategies around the world. Studies of Ag-RDTs have shown variable performance. In this systematic review and meta-analysis, we assessed clinical accuracy (sensitivity specificity) commercially available Ag-RDTs. Methods Results We registered on PROSPERO (Registration number: CRD42020225140). systematically searched multiple databases (PubMed, Web Science Core Collection,...
There is an urgent need for rapid, non-sputum point-of-care diagnostics to detect tuberculosis. This prospective trial in seven high tuberculosis burden countries evaluated the diagnostic accuracy of urine-based lipoarabinomannan assay FUJIFILM SILVAMP TB LAM (FujiLAM) among inpatients and outpatients living with HIV. Diagnostic performance FujiLAM was assessed against a mycobacterial reference standard (sputum culture, blood Xpert Ultra from urine sputum at enrollment, additional culture ≤7...
BackgroundDeletions and duplications of the 16p11.2 BP4-BP5 locus are prevalent copy number variations (CNVs), highly associated with autism spectrum disorder schizophrenia. Beyond language global cognition, neuropsychological assessments these two CNVs have not yet been reported.MethodsThis study investigates relationship between genomic copies at cognitive domains assessed in 62 deletion carriers, 44 duplication 71 intrafamilial control subjects.ResultsIQ is decreased but we demonstrate...
Background Accurate, comprehensive, and timely detection of drug-resistant tuberculosis (TB) is essential to inform patient treatment enable public health surveillance. This crucial for effective control TB globally. Whole-genome sequencing (WGS) targeted next-generation (NGS) approaches have potential as rapid in vitro diagnostics (IVDs), but the complexity workflows, interpretation results, high costs, vulnerability instrumentation been barriers broad uptake outside reference laboratories,...
Differences between genomes can be due to single nucleotide variants, translocations, inversions, and copy number variants (CNVs, gain or loss of DNA). The latter range from sub-microscopic events complete chromosomal aneuploidies. Small CNVs are often benign but those larger than 500 kb strongly associated with morbid consequences such as developmental disorders cancer. Detecting within populations is essential better understand the plasticity our genome elucidate its possible contribution...
Elevated serum urate levels can cause gout, an excruciating disease with suboptimal treatment. Previous GWAS identified common variants modest effects on urate. Here we report large-scale whole-exome sequencing association studies of and kidney function among ≤19,517 European ancestry African-American individuals. We identify aggregate associations low-frequency damaging in the transporters SLC22A12 (URAT1; p = 1.3 × 10-56) SLC2A9 (p 4.5 10-7). Gout risk rare variant carriers is halved (OR...
Abstract Background The novel Fujifilm SILVAMP TB-LAM (FujiLAM) assay detects mycobacterial lipoarabinomannan in urine and has demonstrated superior sensitivity to the Alere Determine Ag (AlereLAM) for detection of tuberculosis among hospitalized people with human immunodeficiency virus (PWH). This is first study evaluate a broad population referred antiretroviral therapy including both outpatients (mainly) inpatients. Methods We assessed diagnostic accuracy FujiLAM AlereLAM assays biobanked...
To determine how astrocytic leptin signaling regulates the physiological response of mice to diet-induced obesity (DIO), we performed metabolic analyses and hypothalamic assays on leptin-receptor knockout (ALKO) in which astrocytes lack functional receptor (ObR) signaling. ALKO wild-type (WT) littermate controls were studied at different stages DIO with measurement body wt, percent fat, activity, biochemical parameters. When fed regular chow, had similar food intake, heat dissipation,...
Abstract Motivation: Only a few large systematic studies have evaluated the impact of copy number variants (CNVs) on common diseases. Several million individuals been genotyped single nucleotide variation arrays, which could be used for genome-wide CNVs association studies. However, CNV calls remain prone to false positives and only empirical filtering strategies exist in literature. To overcome this issue, we defined new quality score (QS) estimating probability called by PennCNV confirmed...