A. Macé

发表

The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation

A. Valsesia, J. Beckmann, Z. Kutalik, 2013, Front. Genet..

Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders.

Stephen R. Williams, David M. Evans, M. Jarvelin, 2018, American journal of human genetics.

Diagnostic Accuracy of a Novel and Rapid Lipoarabinomannan Test for Diagnosing Tuberculosis Among People With Human Immunodeficiency Virus

C. Denkinger, Tobias Broger, E. Moreau, 2019, Open forum infectious diseases.

Novel lipoarabinomannan point-of-care tuberculosis test for people with HIV: a diagnostic accuracy study

C. Denkinger, Tobias Broger, M. Nicol, 2019, The Lancet. Infectious diseases.

Bacterial versus non-bacterial infections: a methodology to support use-case-driven product development of diagnostics

William Rodriguez, S. Agnandji, A. Siqueira, 2020, BMJ Global Health.

Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels

Audrey Y. Chu, A. Uitterlinden, E. Boerwinkle, 2018, Nature Communications.

Copy Number Variation.

A. Valsesia, Z. Kutalik, A. Macé, 2018, Methods in molecular biology.

Accuracy of rapid point-of-care antigen-based diagnostics for SARS-CoV-2: An updated systematic review and meta-analysis with meta-regression analyzing influencing factors

C. Denkinger, Stephan Schmitz, M. Weigand, 2022, PLoS medicine.

SARS-CoV-2 antibodies rapid tests: a valuable epidemiological tool in challenging settings

C. Di Serio, F. Cugnata, J. Sacks, 2021, medRxiv.

SARS-CoV-2 Antibody Rapid Tests: Valuable Epidemiological Tools in Challenging Settings

C. Di Serio, F. Cugnata, J. Sacks, 2021, Microbiology spectrum.

Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index

C. Hoggart, T. Spector, J. Bell, 2014 .

Diagnostic Performance and Usability of the Genedrive® HCV ID Kit in Two Decentralized Settings in Cameroon and Georgia

R. Njouom, A. Macé, M. Chirehwa, 2021, Diagnostics.

Edinburgh Research Explorer Novel Approach Identifies SNPs in SLC2A10 and KCNK9 with Evidence for Parent-of-Origin Effect on Body Mass Index

C. Hoggart, T. Spector, J. Bell, 2017 .

University of Southern Denmark Diagnostic accuracy of a novel and rapid lipoarabinomannan test for diagnosing tuberculosis among people with human immunodeficiency virus Bjerrum,

M. Denkinger, Tobias Broger, E. Moreau, 2020 .

Novel High Sensitivity Tuberculosis Point-of-Care Test for People Living with HIV

C. Denkinger, Tobias Broger, M. Nicol, 2018 .

Comparing accuracy of lipoarabinomannan urine tests for diagnosis of pulmonary tuberculosis in children from four African countries: a cross-sectional study.

C. Denkinger, S. Schumacher, B. Kampmann, 2020, The Lancet. Infectious diseases.

CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits

Yadav Sapkota, Thomas Meitinger, Andres Metspalu, 2017, Nature Communications.

The clinical utility and epidemiological impact of self-testing for SARS-CoV-2 using an-tigen detecting diagnostics: a systematic review and meta-analysis

C. Denkinger, S. Ongarello, N. Pollock, 2022, medRxiv.

resistance to diet-induced obesity Endothelial leptin receptor mutation provides partial

F. Halberg, W. Pan, A. Kastin, 2015 .

Astrocytic leptin-receptor knockout mice show partial rescue of leptin resistance in diet-induced obesity.

W. Pan, A. Kastin, H. Hsuchou, 2013, Journal of applied physiology.

Meta-Analysis of Genome-Wide Association Studies Identifies Six New Loci for Serum Calcium Concentrations

Lorna M. Lopez, Toshiko Tanaka, S. Bandinelli, 2013, PLoS genetics.

Genome-Wide Meta-Analysis Unravels Interactions between Magnesium Homeostasis and Metabolic Phenotypes.

I. Deary, Z. Kutalik, S. Bergmann, 2017, Journal of the American Society of Nephrology : JASN.

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

Allison G. Dempsey, S. Spence, D. Ledbetter, 2012, Journal of Medical Genetics.

Copy number variations and cognitive phenotypes in unselected populations.

Tom R. Gaunt, Hashem A. Shihab, R. Mägi, 2015, JAMA.

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.

J. Rosenfeld, S. Spence, D. Ledbetter, 2016, JAMA psychiatry.

Title : Copy number variations and cognitive phenotypes in unselected populations

Tom R. Gaunt, Hashem A. Shihab, R. Mägi, 2022 .

Defining the Effect of the 16 p 11 . 2 Duplication on Cognition , Behavior , andMedical Comorbidities

J. Rosenfeld, S. Spence, D. Ledbetter, 2015 .

The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition

A. Reymond, J. Beckmann, F. Ramus, 2016, Biological Psychiatry.

Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels

Audrey Y. Chu, A. Uitterlinden, E. Boerwinkle, 2018, Nature Communications.

New quality measure for SNP array based CNV detection

L. Lin, A. Macé, M. A. Tuke, 2016, Bioinform..

Accuracy of novel antigen rapid diagnostics for SARS-CoV-2: A living systematic review and meta-analysis

C. Denkinger, M. Weigand, J. Sacks, 2021, medRxiv.

The SIB Swiss Institute of Bioinformatics’ resources: focus on curated databases

Oliver Horlacher, Damian Szklarczyk, Christian von Mering, 2015, Nucleic Acids Res..

Accuracy of rapid point-of-care antigen-based diagnostics for SARS-CoV-2: an updated systematic review and meta-analysis with meta regression analyzing influencing factors

C. Denkinger, M. Weigand, J. Sacks, 2022, medRxiv.

Diagnostic accuracy of a novel tuberculosis point-of-care urine lipoarabinomannan assay for people living with HIV: A meta-analysis of individual in- and outpatient data

C. Denkinger, M. Nicol, S. Mitarai, 2020, PLoS medicine.

A prospective multicentre diagnostic accuracy study for the Truenat tuberculosis assays

P. Patel, C. Denkinger, E. Gotuzzo, 2021, The European respiratory journal.

Multicentre accuracy trial of FUJIFILM SILVAMP TB LAM test in people with HIV reveals lot variability

K. Reither, M. Muyoyeta, C. Denkinger, 2022, medRxiv.

Novel Approach Identifies SNPs in SLC2A10 and KCNK9 with Evidence for Parent-of-Origin Effect on Body Mass Index

David M. Evans, C. Hoggart, M. Jarvelin, 2014, PLoS genetics.

Analytical performance of the Xpert MTB/XDR® assay for tuberculosis and expanded resistance detection.

C. Denkinger, Heta Parmar, Yuan Cao, 2021, Diagnostic microbiology and infectious disease.

Whole-genome and targeted sequencing of drug-resistant Mycobacterium tuberculosis on the iSeq100 and MiSeq: A performance, ease-of-use, and cost evaluation

Claudia M Denkinger, Anita Suresh, David M Engelthaler, 2019, PLoS medicine.

Comparing SARS-CoV-2 antigen-detection rapid diagnostic tests for COVID-19 self-testing/self-sampling with molecular and professional-use tests: a systematic review and meta-analysis

C. Denkinger, J. Sacks, S. Ongarello, 2023, Scientific reports.

The SIB Swiss Institute of Bioinformatics’ resources: focus on curated databases

Joshua L. Payne, Christian J. A. Sigrist, Brian J. Stevenson, 2015, Nucleic Acids Res..

Clinical accuracy of instrument-based SARS-CoV-2 antigen diagnostic tests: a systematic review and meta-analysis.

C. Denkinger, J. Sacks, S. Ongarello, 2024, Virology journal.

Reflex Xpert MTB/XDR Testing of Residual Rifampicin-Resistant Specimens: A Clinical Laboratory-Based Diagnostic Accuracy and Feasibility Study in South Africa

S. Acácio, W. Zemanay, N. Ntinginya, 2024, Open forum infectious diseases.