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science & technology (16) 16
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analysis (6) 6
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1. Full Text Novel lipoarabinomannan point-of-care tuberculosis test for people with HIV: a diagnostic accuracy study
by Broger, Tobias and Sossen, Bianca and du Toit, Elloise and Kerkhoff, Andrew D and Schutz, Charlotte and Ivanova Reipold, Elena and Ward, Amy and Barr, David A and Macé, Aurélien and Trollip, Andre and Burton, Rosie and Ongarello, Stefano and Pinter, Abraham and Lowary, Todd L and Boehme, Catharina and Nicol, Mark P and Meintjes, Graeme and Denkinger, Claudia M
The Lancet infectious diseases, ISSN 1473-3099, 08/2019, Volume 19, Issue 8, pp. 852 - 861
Life Sciences & Biomedicine | Infectious Diseases | Science & Technology | HIV testing | Tuberculosis | Diagnosis | HIV (Viruses) | Analysis | Urine | Medical research | Antigens | Sensitivity analysis | Funding | Mortality | Systematic review | Assaying | CD4 antigen | Studies | Charities | Sensitivity | Accuracy | Hospitals | Acquired immune deficiency syndrome--AIDS | Technology | Human immunodeficiency virus--HIV | Diagnostic systems | Public health | Index Medicus
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2. Full Text Introduction
by Aramini, Aurélien and Macé, Arnaud
Romantisme, ISSN 0048-8593, 2019, Volume n°185, Issue 3, p. 5
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3. Full Text Introduction
by Aramini, Aurélien and Macé, Arnaud
Romantisme, ISSN 0048-8593, 2019, Volume 185, Issue 3, pp. 5 - 13
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4. Full Text Introduction
by Aramini, Aurélien and Macé, Arnaud
Romantisme, ISSN 0048-8593, 2019, Volume n°185, Issue 3, pp. 5 - 13
Linguistics | Humanities and Social Sciences | History | Philosophy
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5. Full Text Introduction
by Aramini, Aurélien and Macé, Arnaud
Romantisme, ISSN 0048-8593, 2019, Volume n°185, Issue 3, pp. 5 - 13
Linguistics | Humanities and Social Sciences | History | Philosophy
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6. Full Text The growing importance of CNVs: New insights for detection and clinical interpretation
by Valsesia, Armand and Macé, Aurélien and Jacquemont, Sébastien and Beckmann, Jacques S and Kutalik, Zoltán
Frontiers in genetics, ISSN 1664-8021, 2013, Volume 4, Issue MAY, pp. 92 - 92
Genome-wide association studies | Copy number variation | Genomics | Complex disease | Personalized medicine | Bioinformatics | Sequencing | copy number variation | genome-wide association studies | bioinformatics | personalized medicine
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7. Full Text A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders
by Zufferey, Flore and Sherr, Elliott H and Beckmann, Noam D and Hanson, Ellen and Maillard, Anne M and Hippolyte, Loyse and Macé, Aurélien and Ferrari, Carina and Kutalik, Zoltán and Andrieux, Joris and Aylward, Elizabeth and Barker, Mandy and Bernier, Raphael and Bouquillon, Sonia and Conus, Philippe and Delobel, Bruno and Faucett, W Andrew and Goin-Kochel, Robin P and Grant, Ellen and Harewood, Louise and Hunter, Jill V and Lebon, Sébastien and Ledbetter, David H and Martin, Christa Lese and Männik, Katrin and Martinet, Danielle and Mukherjee, Pratik and Ramocki, Melissa B and Spence, Sarah J and Steinman, Kyle J and Tjernagel, Jennifer and Spiro, John E and Reymond, Alexandre and Beckmann, Jacques S and Chung, Wendy K and Jacquemont, Sébastien and Simons VIP Consortium and 16P11-2 European Consortium and 16p11.2 European Consortium and on behalf of the Simons VIP Consortium and on behalf of the 16p11.2 European Consortium
Journal of medical genetics, ISSN 0022-2593, 10/2012, Volume 49, Issue 10, pp. 660 - 668
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Medical genetics | Body Mass Index | Chromosome Deletion | Humans | Male | Developmental Disabilities - genetics | Intelligence Tests | Syndrome | Young Adult | Phenotype | Child Development Disorders, Pervasive - genetics | Adolescent | Child Development Disorders, Pervasive - diagnosis | Chromosomes, Human, Pair 16 | Adult | Female | Heterozygote | Child | Developmental Disabilities - diagnosis | Gene Order | Index Medicus | Life Sciences | Obesity | Clinical genetics | 1506 | Psychiatry | Complex traits | Copy-Number Variation
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8. Copy number variations and cognitive phenotypes in unselected populations
by Männik, Katrin and Mägi, Reedik and Macé, Aurélien and Cole, Ben and Guyatt, Anna L and Shihab, Hashem A and Maillard, Anne M and Alavere, Helene and Kolk, Anneli and Reigo, Anu and Mihailov, Evelin and Leitsalu, Liis and Ferreira, Anne-Maud and Nõukas, Margit and Teumer, Alexander and Salvi, Erika and Cusi, Daniele and McGue, Matt and Iacono, William G and Gaunt, Tom R and Beckmann, Jacques S and Jacquemont, Sebastien and Kutalik, Zoltán and Pankratz, Nathan and Timpson, Nicholas and Metspalu, Andres and Reymond, Alexandre
JAMA : the journal of the American Medical Association, ISSN 0098-7484, 05/2015, Volume 313, Issue 20, pp. 2044 - 2054
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Genome-Wide Association Study | United States | Humans | Male | United Kingdom | Cognition | Educational Status | Obesity - genetics | DNA Copy Number Variations | Intellectual Disability - genetics | Mental Disorders - genetics | Phenotype | Adolescent | Adult | Epilepsy - genetics | Female | Heterozygote | Italy | Estonia | Genotype & phenotype | Population | Cognition & reasoning | Genomics
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9. Full Text Comparing accuracy of lipoarabinomannan urine tests for diagnosis of pulmonary tuberculosis in children from four African countries: a cross-sectional study
by Nkereuwem, Esin and Togun, Toyin and Gomez, Marie P and Székely, Rita and Macé, Aurélien and Jobe, Dawda and Schumacher, Samuel G and Kampmann, Beate and Denkinger, Claudia M and Abok, Ishaya Ibrahim and Angyu, Joshua Tsoukan and Diakité, Aziz and Diarra, Bassirou and Ebonyi, Augustine Odo and Egere, Uzochukwu and Gomez, Marie P and Jallow, Musa and Jobe, Dawda and Kampmann, Beate and Konate, Bakary and Lakda, Gonen Mato and Mahiga, Hellen and Nkereuwem, Esin and Ntinginya, Nyanda Elias and Olomi, Willyhelmina and Sabi, Issa and Saidy, Binta and Sanogo, Moumine and Sillah, Abdou K and Sylla, Mariam and Togun, Toyin and Reach4KidsAfrica (R4KA) Consortium
The Lancet infectious diseases, ISSN 1473-3099, 03/2021, Volume 21, Issue 3, pp. 376 - 384
Urine | Medical research | Antigens | Bivariate analysis | Laboratories | Assaying | Children & youth | Accuracy | Tuberculosis | Human immunodeficiency virus--HIV | Sputum | Diagnostic systems | Teenagers | Diagnosis | Children | Public health | Age | Index Medicus
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10. Full Text Accuracy of the Truenat MTB-RIF Dx assay for detection of rifampicin resistance-associated mutations
by Georghiou, Sophia B and Gomathi, Narayanan Sivaramakrishnan and Rajendran, Priya and Nagalakshmi, V and Prabakaran, L and Prem Kumar, M. Michel and Macé, Aurélien and Tripathy, Srikanth and Ruhwald, Morten and Schumacher, Samuel G and Penn-Nicholson, Adam
Tuberculosis (Edinburgh, Scotland), ISSN 1472-9792, 03/2021, Volume 127, p. 102064
Tuberculosis | Diagnostics | Rifampicin resistance | Point-of-care | Analytical
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11. Full Text CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits
by Mace, Aurelien and Tuke, M.A and Deelen, Patrick and Kristiansson, Kati and Mattsson, Hannele and Nõukas, M and Sapkota, Y and Schick, Ursula and Porcu, Eleonora and Rüeger, S and McDaid, A.F and Porteous, David J and Winkler, Thomas W and Salvi, E and Shrine, Nick and Liu, X and Ang, Wei and Zhang, Weihua and Feitosa, M.F and Venturini, Cristina and Most, Peter and Rosengren, A and Wood, Anew and Beaumont, R.N and Jones, Samuel E and Ruth, Katherine S and Yaghootkar, H and Tyrrell, A.W.R and Havulinna, Aki and Boers, H and Mägi, R and Kriebel, Jennifer and Müller-Nurasyid, M and Perola, M and Nieminen, Markku and Lokki, M.L and Kähönen, Mika and Viikari, Jorma and Geller, Frank and Lahti, J and Palotie, A and Koponen, P and Lundqvist, Annamari and Rissanen, Harri and Bottinger, Erwin and Wojczynski, Mary and Lenzini, P and Nolte, Ilja and Sparsø, Thomas and Schupf, N and Christensen, Kaare and Perls, Thomas T and Newman, A.B and Spector, Timothy and Chambers, J.C and Koskinen, Seppo and Melbye, Mads and Raitakari, O.T and Lehtimäki, Terho and Tobin, Martin and Wain, L.V and Sinisalo, J and Peters, Annette and Meitinger, T and Martin, Nicholas and Wray, Naomi and Montgomery, G.W and Medland, Sarah and Swertz, M.A and Borodulin, Katja and Männistö, Satu and Murray, A and Bochud, Murielle and Jacquemont, Sébastien and Rivadeneira, F and Hansen, Thomas and Oldehinkel, Albertine and Mangino, Massimo and Province, Mike and Kooner, Jaspal S and Freathy, Rachel and Pennell, Craig and Feenstra, Bjarke and Strachan, David and Lettre, Guillaume and Cusi, Daniele and Heid, Iris and Hayward, Caroline and Männik, K and Beckmann, Jacques and Loos, Ruth and Nyholt, Dale and Metspalu, A and Hagen, Knut and Weedon, Michael and Salomaa, Veikko and Franke, Lude and Reymond, A and Frayling, T.M and Kutalik, Zoltán
Nature communications, ISSN 2041-1723, 12/2017, Volume 8, Issue 1, pp. 744 - 11
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Body Mass Index | European Continental Ancestry Group - genetics | Genome-Wide Association Study | Anthropometry | Humans | Genotype | Chromosomes, Human, Pair 11 - genetics | Body Weight - genetics | Body Height - genetics | DNA Copy Number Variations | Chromosomes, Human, Pair 22 - genetics | Phenotype | Body Size - genetics | Chromosomes, Human, Pair 1 - genetics | Chromosomes, Human, Pair 18 - genetics | Chromosomes, Human, Pair 7 - genetics | Waist-Hip Ratio | Chromosomes, Human, Pair 3 - genetics | Chromosomes, Human, Pair 16 - genetics | Mental disorders | Copy number | Melanocortin MC4 receptors | Genomes | Single-nucleotide polymorphism | Loci | Hip | Body mass index | Dimethylaniline monooxygenase (N-oxide-forming) | Body mass | Workers | Body size | Adults | Gene loci | Chromosome 16 | Index Medicus
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12. Full Text Bacterial versus non-bacterial infections: a methodology to support use-case-driven product development of diagnostics
by Escadafal, Camille and Geis, Steffen and Siqueira, A M and Agnandji, Selidji T and Shimelis, Techalew and Tadesse, Birkneh Tilahun and Massinga Loembé, Marguerite and Harris, Victoria and Fernandez-Carballo, B Leticia and Macé, Aurélien and Ongarello, Stefano and Rodriguez, William and Dittrich, Sabine
BMJ global health, ISSN 2059-7908, 10/2020, Volume 5, Issue 10
Life Sciences & Biomedicine | Public, Environmental & Occupational Health | Science & Technology | Index Medicus | Health administration
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13. Full Text The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition
by Hippolyte, Loyse and Maillard, Anne M and Rodriguez-Herreros, Borja and Pain, Aurélie and Martin-Brevet, Sandra and Ferrari, Carina and Conus, Philippe and Macé, Aurélien and Hadjikhani, Nouchine and Metspalu, Andres and Reigo, Anu and Kolk, Anneli and Männik, Katrin and Barker, Mandy and Isidor, Bertrand and Le Caignec, Cédric and Mignot, Cyril and Schneider, Laurence and Mottron, Laurent and Keren, Boris and David, Albert and Doco-Fenzy, Martine and Gérard, Marion and Bernier, Raphael and Goin-Kochel, Robin P and Hanson, Ellen and Green Snyder, LeeAnne and Ramus, Franck and Beckmann, Jacques S and Draganski, Bogdan and Reymond, Alexandre and Jacquemont, Sébastien and 16p11.2 European Consortium, Simons Variation in Individuals Project Consortium and 16p11 2 European Consortium and Simons Variation Individuals Proje
Biological psychiatry (1969), ISSN 0006-3223, 2016, Volume 80, Issue 2, pp. 129 - 139
Psychiatric/Mental Health | ASD | Copy number variation | Inhibition | Language | Memory | 16p11.2 | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Psychiatry | Science & Technology | Autistic Disorder - physiopathology | Humans | Middle Aged | Child, Preschool | Male | Chromosome Duplication - genetics | Intelligence - genetics | Intellectual Disability - genetics | Young Adult | Adult | Chromosome Disorders - diagnostic imaging | Cognitive Dysfunction - genetics | Female | Cognitive Dysfunction - diagnostic imaging | Autistic Disorder - diagnostic imaging | Child | Chromosome Disorders - physiopathology | Chromosomes, Human, Pair 16 - genetics | Autistic Disorder - genetics | Chromosome Deletion | Motor Skills - physiology | Intellectual Disability - diagnostic imaging | DNA Copy Number Variations - genetics | Cognitive Dysfunction - physiopathology | Executive Function - physiology | Intellectual Disability - physiopathology | Pedigree | Adolescent | Heterozygote | Chromosome Disorders - genetics | Memory - physiology | Schizophrenia | Autism | Medical genetics | Analysis | Index Medicus
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14. Full Text Whole-genome and targeted sequencing of drug-resistant Mycobacterium tuberculosis on the iSeq100 and MiSeq: A performance, ease-of-use, and cost evaluation
by Colman, Rebecca E and Mace, Aurelien and Seifert, Mania and Hetzel, Jonathan and Mshaiel, Haifa and Surest, Anita and Lemmer, Darrin and Engelthaler, David M and Catanzaro, Donald G and Young, Amanda G and Denkinger, Claudia M and Rodwell, Timothy C
PLoS medicine, ISSN 1549-1277, 04/2019, Volume 16, Issue 4, pp. e1002794 - e1002794
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | High-Throughput Nucleotide Sequencing - economics | Reproducibility of Results | Humans | Sequence Analysis, DNA - instrumentation | Time Factors | Tuberculosis, Multidrug-Resistant - microbiology | Cost-Benefit Analysis | DNA, Bacterial - analysis | High-Throughput Nucleotide Sequencing - instrumentation | Sequence Analysis, DNA - economics | Drug Resistance, Multiple, Bacterial - genetics | High-Throughput Nucleotide Sequencing - methods | Sequence Analysis, DNA - methods | Mycobacterium tuberculosis - genetics | Genome-wide association studies | Usage | Control | Tuberculosis | Genetic aspects | High-throughput screening (Biochemical assaying) | Risk factors | Drug resistance in microorganisms | Medical research | Analysis | Genomics | Economic aspects | Medicine, Experimental | Antitubercular agents | Genomes | Diagnostic reagents | Nucleotide sequencing | DNA sequencing | Laboratories | Clinical isolates | Instrumentation | Single-nucleotide polymorphism | Drug resistance | Optimization | Gene sequencing | Complexity | Consortia | Maintenance costs | Capital costs | Next-generation sequencing | Bioinformatics | Deoxyribonucleic acid--DNA | Public health | Platforms | Evaluation | Mortality | Equipment costs | Workflow | Capital | Patients | Medicine | Infectious diseases | Health surveillance | Reagents | Mutation | Index Medicus | Deoxyribonucleic acid | DNA
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