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index medicus (19) 19
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dna copy number variations - genetics (3) 3
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risk factors (3) 3
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1. 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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2. 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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3. 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
Most tuberculosis-related deaths in people with HIV could be prevented with earlier diagnosis and treatment. The only commercially available tuberculosis... 
INTERVAL | INFECTIOUS DISEASES | DETERMINE TB-LAM | DIFFERENCE | YIELD | PROPORTIONS | 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
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4. 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, p. 92
Differences between genomes can be due to single nucleotide variants, translocations, inversions, and copy number variants (CNVs, gain or loss of DNA). The... 
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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5. Full Text 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 - Journal of the American Medical Association, ISSN 0098-7484, 05/2015, Volume 313, Issue 20, pp. 2044 - 2054
IMPORTANCE The association of copy number variations (CNVs), differing numbers of copies of genetic sequence at locations in the genome, with phenotypes such... 
CHROMOSOME 16P11.2 | INTELLIGENCE | MEDICINE, GENERAL & INTERNAL | OBESITY | AUTISM | VARIANTS | GENOMIC DISORDERS | DISEASE | ABILITY | GENE-EXPRESSION | ASSOCIATION | 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 | Genetic variation | Analysis | Genetic aspects | Research | Mental retardation | Genotype & phenotype | Population | Cognition & reasoning | Genomics | population biobanks | education | genomic disorders | 16p11.2 | CNV | ALSPAC | EGCUT | intelligence
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6. 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
Background The recurrent ∼600 kb 16p11.2 BP4-BP5 deletion is among the most frequent known genetic aetiologies of autism spectrum disorder (ASD) and related... 
MICRODELETION | INDIVIDUALS | DE-NOVO | OBESITY | AUTISM | GENETICS & HEREDITY | PHENOTYPES | SPECTRUM | REARRANGEMENTS | ASSOCIATION | COPY-NUMBER VARIATION | 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 | Life Sciences | Obesity | Clinical genetics | 1506 | Psychiatry | Complex traits | Copy-Number Variation
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7. Full Text Copy number variation
by Macé, Aurélien and Kutalik, Zoltán and Valsesia, Armand
Methods in Molecular Biology, ISSN 1064-3745, 2018, Volume 1793, pp. 231 - 258
Differences between genomes can be due to single nucleotide variants (SNPs), translocations, inversions and copy number variants (CNVs, gain or loss of DNA).... 
Genome-wide association studies | Human disease | Copy number variation | Duplication | DNA | Structural variation | Deletion | Human genetics
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8. Full Text Genome-wide meta-analysis unravels interactions between magnesium homeostasis and metabolic phenotypes
by Corre, Tanguy and Arjona, Francisco J and Hayward, Caroline and Youhanna, Sonia and De Baaij, Jeroen H.F and Belge, Hendrica and Nägele, Nadine and Debaix, Huguette and Blanchard, Maxime G and Traglia, Michela and Harris, Sarah E and Ulivi, Sheila and Rueedi, Rico and Lamparter, David and Macé, Aurélien and Sala, Cinzia and Lenarduzzi, Stefania and Ponte, Belen and Pruijm, Menno and Ackermann, Daniel and Ehret, Georg and Baptista, Daniela and Polasek, Ozren and Rudan, Igor and Hurd, Toby W and Hastie, Nicholas D and Vitart, Veronique and Waeber, Geràrd and Kutalik, Zoltán and Bergmann, Sven and Vargas-Poussou, Rosa and Konrad, Martin and Gasparini, Paolo and Deary, Ian J and Starr, John M and Toniolo, Daniela and Vollenweider, Peter and Hoenderop, Joost G.J and Bindels, René J.M and Bochud, Murielle and Devuyst, Olivier
Journal of the American Society of Nephrology, ISSN 1046-6673, 01/2018, Volume 29, Issue 1, pp. 335 - 348
Magnesium (Mg2+) homeostasis is critical for metabolism. However, the genetic determinants of the renal handling of Mg2+, which is crucial for Mg2+... 
CONTROLLED-TRIALS | SUPPLEMENTATION | SECONDARY HYPOCALCEMIA | ZEBRAFISH | DOUBLE-BLIND | UROLOGY & NEPHROLOGY | RANDOMIZED-TRIAL | GENETIC-LOCI | NONDIABETIC SUBJECTS | INSULIN SENSITIVITY | HYPOMAGNESEMIA | Tubular transport | Meta-Analysis | Genetic determinants | Magnesium homeostasis | Gene-environment interaction | zebrafish | Metabolic syndrome
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9. Full Text Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels
by Tin, Adrienne and Li, Yong and Li, Yong and Brody, Jennifer A and Brody, Jennifer A and Nutile, Teresa and Nutile, Teresa and Chu, Audrey Y and Chu, Audrey Y and Huffman, Jennifer E and Huffman, Jennifer E and Yang, Qiong and Yang, Qiong and Chen, Ming-Huei and Chen, Ming-Huei and Robinson-Cohen, Cassianne and Macé, Aurélien and Liu, Jun and Demirkan, Ayşe and Sorice, Rossella and Sorice, Rossella and Sedaghat, Sanaz and Swen, Melody and Yu, Bing and Yu, Bing and Ghasemi, Sahar and Ghasemi, Sahar and Teumer, Alexanda and Teumer, Alexanda and Vollenweider, Peter and Ciullo, Marina and Ciullo, Marina and Li, Meng and Uitterlinden, André G and Uitterlinden, André G and Kraaij, Robert and Kraaij, Robert and Amin, Najaf and van Rooij, Jeroen and Kutalik, Zoltán and Dehghan, Abbas and Dehghan, Abbas and McKnight, Barbara and van Duijn, Cornelia M and Morrison, Alanna and Morrison, Alanna and Psaty, Bruce M and Boerwinkle, Eric and Boerwinkle, Eric and Fox, Caroline S and Fox, Caroline S and Woodward, Owen M and Köttgen, Anna and Köttgen, Anna
Nature communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 4228 - 11
Elevated serum urate levels can cause gout, an excruciating disease with suboptimal treatment. Previous GWAS identified common variants with modest effects on... 
GENETIC-VARIATION | RISK-FACTORS | HYPERURICEMIA | GOUT | MULTIDISCIPLINARY SCIENCES | LINKAGE ANALYSIS | LOCI | CHRONIC KIDNEY-DISEASE | IDENTIFICATION | GENOME-WIDE ASSOCIATION | TRANSPORTER 9 HSLC2A9 | Glucose Transport Proteins, Facilitative - metabolism | Genetic Predisposition to Disease | Meta-Analysis as Topic | Organic Cation Transport Proteins - metabolism | Protein Structure, Secondary | Humans | Organic Anion Transporters - chemistry | Organic Cation Transport Proteins - chemistry | Glucose Transport Proteins, Facilitative - chemistry | Organic Anion Transporters - metabolism | Kidney Function Tests | Exome - genetics | Organic Anion Transporters - genetics | Uric Acid - blood | Glucose Transport Proteins, Facilitative - genetics | Organic Cation Transport Proteins - genetics | Proteins | Sequences | Kidneys | Medical treatment | Gout | Uric acid | Gene mapping | Protein structure | Peptide mapping | Lead poisoning
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10. 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, RE and Mace, A and Seifert, M and Hetzel, J and Mshaiel, H and Surest, A and Lemmer, D and Engelthaler, DM and Catanzaro, DG and Young, AG and Denkinger, CM and Rodwell, TC
PLOS MEDICINE, ISSN 1549-1277, 04/2019, Volume 16, Issue 4, p. e1002794
Background Accurate, comprehensive, and timely detection of drug-resistant tuberculosis (TB) is essential to inform patient treatment and enable public health... 
MEDICINE, GENERAL & INTERNAL | Genome-wide association studies | Usage | Control | Tuberculosis | Genetic aspects | High-throughput screening (Biochemical assaying) | Risk factors | Laboratories | Genomics | Clinical isolates | Instrumentation | Genomes | 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 | Reagents | Mutation | DNA sequencing | Visualization | Deoxyribonucleic acid | DNA
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11. Full Text CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits
by Macé, Aurélien and Tuke, Marcus A and Deelen, Patrick and Kristiansson, Kati and Mattsson, Hannele and Nõukas, Margit and Sapkota, Yadav and Schick, Ursula and Porcu, Eleonora and Rüeger, Sina and McDaid, Aaron F and Porteous, David and Winkler, Thomas W and Salvi, Erika and Shrine, Nick and Liu, Xueping and Ang, Wei Q and Zhang, Weihua and Feitosa, Mary F and Venturini, Cristina and van der Most, Peter J and Rosengren, Anders and Wood, Anew R and Beaumont, Robin N and Jones, Samuel E and Ruth, Katherine S and Yaghootkar, Hanieh and Tyrrell, Jessica and Havulinna, Aki S and Boers, Harmen and Mägi, Reedik and Kriebel, Jennifer and Müller-Nurasyid, Martina and Perola, Markus and Nieminen, Markku and Lokki, Marja-Liisa and Kähönen, Mika and Viikari, Jorma S and Geller, Frank and Lahti, Jari and Palotie, Aarno and Koponen, Päivikki and Lundqvist, Annamari and Rissanen, Harri and Bottinger, Erwin P and Afaq, Saima and Wojczynski, Mary K and Lenzini, Petra and Nolte, Ilja M and Sparsø, Thomas and Schupf, Nicole and Christensen, Kaare and Perls, Thomas T and Newman, Anne B and Werge, Thomas and Snieder, Harold and Spector, Timothy D and Chambers, John C and Koskinen, Seppo and Melbye, Mads and Raitakari, Olli T and Lehtimäki, Terho and Tobin, Martin D and Wain, Louise V and Sinisalo, Juha and Peters, Annette and Meitinger, Thomas and Martin, Nicholas G and Wray, Naomi R and Montgomery, Grant W and Medland, Sarah E and Swertz, Morris A and Vartiainen, Erkki and Borodulin, Katja and Männistö, Satu and Murray, Anna and Bochud, Murielle and Jacquemont, Sébastien and Rivadeneira, Fernando and Hansen, Thomas F and Oldehinkel, Albertine J and Mangino, Massimo and Province, Michael A and Deloukas, Panos and Kooner, Jaspal S and Freathy, Rachel M and Pennell, Craig and Feenstra, Bjarke and Strachan, David P and Lettre, Guillaume and Hirschhorn, Joel and Cusi, Daniele and Heid, Iris M and Hayward, Caroline and Männik, Katrin and Beckmann, Jacques S and Loos, Ruth J F and Nyholt, Dale R and Metspalu, Anes and Eriksson, Johan G and ...
Nature Communications, ISSN 2041-1723, 09/2017, Volume 8, Issue 1, pp. 744 - 11
There are few examples of robust associations between rare copy number variants (CNVs) and complex continuous human traits. Here we present a large-scale CNV... 
HUMAN HEIGHT | MICRODUPLICATION | OBESITY | VARIANTS | SNP | MULTIDISCIPLINARY SCIENCES | BODY-MASS INDEX | WILLIAMS-BEUREN-SYNDROME | DEVELOPMENTAL DELAY | DELETION SYNDROME | GENOME-WIDE ASSOCIATION | 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 | Clonal deletion | Workers | Body size | Deletion | Adults | Gene loci | Chromosome 16
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12. Full Text Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders
by Ligthart, Symen and Vaez, Ahmad and Võsa, Urmo and Stathopoulou, Maria G and Stathopoulou, Maria and de Vries, Paul S and Prins, Bram P and Prins, Bram and Van der Most, Peter J and Tanaka, Toshiko and Naderi, Elnaz and Rose, Lynda M and Wu, Ying and Karlsson, Robert and Karlsson, Magnus and Barbalic, Maja and Lin, Honghuang and Pool, René and Zhu, Gu and Macé, Aurélien and Sidore, Carlo and Trompet, Stella and Mangino, Massimo and Sabater-Lleal, Maria and Kemp, John P and Abbasi, Ali and Kacprowski, Tim and Verweij, Niek and Smith, Albert V and Smith, Erin N and Smith, George Davey and Huang, Jie and Huang, Tao and Huang, Hongyan and Marzi, Carola and Feitosa, Mary F and Lohman, Kurt K and Kleber, Marcus E and Milaneschi, Yuri and Mueller, Christian and Huq, Mahmudul and Vlachopoulou, Efthymia and Lyytikäinen, Leo-Pekka and Oldmeadow, Christopher and Deelen, Joris and Perola, Markus and Zhao, Jing Hua and Zhao, Jing and Feenstra, Bjarke and Alizadeh, Behrooz Z and Boezen, H. Marike and Franke, Lude and van der Harst, Pim and Navis, Gerjan and Rots, Marianne and Snieder, Harold and Swertz, Morris and Wolffenbuttel, Bruce H.R and Wijmenga, Cisca and Amini, Marzyeh and Benjamin, Emelia J and Benjamin, Emelia and Chasman, Daniel I and Dehghan, Abbas and Ahluwalia, Tarunveer Singh and Ahluwalia, Tarunveer S and Meigs, James and Tracy, Russell and Tracy, Russell P and Bis, Josh and Bis, Joshua C and Eiriksdottir, Gudny and Pankratz, Nathan and Gross, Myron and Rainer, Alex and Wilson, James G and Wilson, James F and Psaty, Bruce M and Dupuis, Josee and Dupuis, Josée and Vaso, Urmo and Lehtimaki, Terho and Koenig, Wolfgang and Jamshidi, Yalda and Siest, Sophie and Uitterlinden, André G and Uitterlinden, Andre G and Abdollahi, Mohammadreza and Schnabel, Renate and Schick, Ursula M and Nolte, Ilja M and Kraja, Aldi and Hsu, Yi-Hsiang and Tylee, Daniel S and Zwicker, Alyson and Uher, Rudolf and Davey-Smith, George and Morrison, Alanna C and Hicks, Andrew and Hicks, Andrew A and ... and CHARGE Inflammation Working Grp and LifeLines Cohort Study and CHARGE Inflammation Working Group and Orthopedics - Clinical and Molecular Osteoporosis Research and EpiHealth: Epidemiology for Health and Lund University and Ortopedi - klinisk och molekylär osteoporosforskning and Lunds universitet
The American Journal of Human Genetics, ISSN 0002-9297, 11/2018, Volume 103, Issue 5, pp. 691 - 706
C-reactive protein (CRP) is a sensitive biomarker of chronic low-grade inflammation and is associated with multiple complex diseases. The genetic determinants... 
DEPICT | coronary artery disease | system biology | C-reactive protein | inflammation | genome-wide association study | Mendelian randomization | schizophrenia | inflammatory disorders | C-REACTIVE PROTEIN | HEART | IMMUNITY | GENETICS & HEREDITY | SCHIZOPHRENIA | RISK | MENDELIAN RANDOMIZATION | WIDE ASSOCIATION | LD SCORE REGRESSION | INSTRUMENTS | Bipolar Disorder - metabolism | Mendelian Randomization Analysis - methods | Liver - pathology | Schizophrenia - metabolism | Humans | Middle Aged | Genetic Loci - genetics | Male | Young Adult | Inflammation - metabolism | Schizophrenia - genetics | Aged, 80 and over | Adult | Female | Child | Biomarkers - metabolism | Body Mass Index | Liver - metabolism | C-Reactive Protein - genetics | Bipolar Disorder - genetics | Metabolic Networks and Pathways - genetics | Adolescent | Inflammation - genetics | Aged | Genome-Wide Association Study - methods | Physiological aspects | Genetic aspects | Inflammation | Research | Risk factors | Basic Medicine | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinsk genetik | Medical Genetics | Medicinska och farmaceutiska grundvetenskaper
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