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

por Valsesia, Armand, Macé, Aurélien, Jacquemont, Sébastien, Beckmann, Jacques S., Kutalik, Zoltán
Publicado 2013

Evaluating diagnostic tests during outbreaks: challenges and lessons learnt from COVID-19

por Escadafal, Camille, Baldan, Rossella, De Vos, Margaretha, Ruiz, Ryan Jose, Emperador, Devy M, Murahwa, Alltalents T, Macé, Aurélien, Bausch, Daniel G, Vessière, Aurélia, Sacks, Jilian A
Publicado 2023

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

por Saluzzo, Francesca, Mantegani, Paola, Poletti De Chaurand, Valeria, Quaresima, Virginia, Cugnata, Federica, Di Serio, Clelia, Macé, Aurélien, De Vos, Margaretha, Sacks, Jilian A., Cirillo, Daniela Maria
Publicado 2021

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

por Lamoury, Francois M. J., Njouom, Richard, Amougou-Atsama, Marie, Yiagnigni Mfopou, Euloge, Berishvili, Nino, Sologashvili, Manana, Fajardo, Emmanuel, Malobela, Agnes, Macé, Aurélien, Chirehwa, Maxwell, Alkhazashvili, Maia, Ivanova Reipold, Elena
Publicado 2021

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

por Colman, Rebecca E., Mace, Aurélien, Seifert, Marva, Hetzel, Jonathan, Mshaiel, Haifa, Suresh, Anita, Lemmer, Darrin, Engelthaler, David M., Catanzaro, Donald G., Young, Amanda G., Denkinger, Claudia M., Rodwell, Timothy C.
Publicado 2019

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

por Escadafal, Camille, Geis, Steffen, Siqueira, A M, Agnandji, Selidji T, Shimelis, Techalew, Tadesse, Birkneh Tilahun, Massinga Loembé, Marguerite, Harris, Victoria, Fernandez-Carballo, B Leticia, Macé, Aurélien, Ongarello, Stefano, Rodriguez, William, Dittrich, Sabine
Publicado 2020

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

por Bjerrum, Stephanie, Broger, Tobias, Székely, Rita, Mitarai, Satoshi, Opintan, Japheth A, Kenu, Ernest, Lartey, Margaret, Addo, Kennedy K, Chikamatsu, Kinuyo, Macé, Aurélien, Schumacher, Samuel G, Moreau, Emmanuel, Shah, Maunank, Johansen, Isik Somuncu, Denkinger, Claudia M
Publicado 2019

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

por Brümmer, Lukas E., Katzenschlager, Stephan, Gaeddert, Mary, Erdmann, Christian, Schmitz, Stephani, Bota, Marc, Grilli, Maurizio, Larmann, Jan, Weigand, Markus A., Pollock, Nira R., Macé, Aurélien, Carmona, Sergio, Ongarello, Stefano, Sacks, Jilian A., Denkinger, Claudia M.
Publicado 2021

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

por Broger, Tobias, Nicol, Mark P., Székely, Rita, Bjerrum, Stephanie, Sossen, Bianca, Schutz, Charlotte, Opintan, Japheth A., Johansen, Isik S., Mitarai, Satoshi, Chikamatsu, Kinuyo, Kerkhoff, Andrew D., Macé, Aurélien, Ongarello, Stefano, Meintjes, Graeme, Denkinger, Claudia M., Schumacher, Samuel G.
Publicado 2020

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

por Brümmer, Lukas E., Katzenschlager, Stephan, McGrath, Sean, Schmitz, Stephani, Gaeddert, Mary, Erdmann, Christian, Bota, Marc, Grilli, Maurizio, Larmann, Jan, Weigand, Markus A., Pollock, Nira R., Macé, Aurélien, Erkosar, Berra, Carmona, Sergio, Sacks, Jilian A., Ongarello, Stefano, Denkinger, Claudia M.
Publicado 2022

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

por Broger, Tobias, Sossen, Bianca, du Toit, Elloise, Kerkhoff, Andrew D, Schutz, Charlotte, Ivanova Reipold, Elena, Ward, Amy, Barr, David A, Macé, Aurélien, Trollip, Andre, Burton, Rosie, Ongarello, Stefano, Pinter, Abraham, Lowary, Todd L, Boehme, Catharina, Nicol, Mark P, Meintjes, Graeme, Denkinger, Claudia M
Publicado 2019

A prospective multicentre diagnostic accuracy study for the Truenat tuberculosis assays

por Penn-Nicholson, Adam, Gomathi, Sivaramakrishnan N., Ugarte-Gil, Cesar, Meaza, Abyot, Lavu, Evelyn, Patel, Pranav, Choudhury, Bandana, Rodrigues, Camilla, Chadha, Sarabjit, Kazi, Mubin, Macé, Aurélien, Nabeta, Pamela, Boehme, Catharina, Gangakhedkar, Raman R., Sarin, Sanjay, Tesfaye, Ephrem, Gotuzzo, Eduardo, du Cros, Philipp, Tripathy, Srikanth, Ruhwald, Morten, Singh, Manjula, Denkinger, Claudia M., Schumacher, Samuel G.
Publicado 2021

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

por Tin, Adrienne, Li, Yong, Brody, Jennifer A., Nutile, Teresa, Chu, Audrey Y., Huffman, Jennifer E., Yang, Qiong, Chen, Ming-Huei, Robinson-Cohen, Cassianne, Macé, Aurélien, Liu, Jun, Demirkan, Ayşe, Sorice, Rossella, Sedaghat, Sanaz, Swen, Melody, Yu, Bing, Ghasemi, Sahar, Teumer, Alexanda, Vollenweider, Peter, Ciullo, Marina, Li, Meng, Uitterlinden, André G., Kraaij, Robert, Amin, Najaf, van Rooij, Jeroen, Kutalik, Zoltán, Dehghan, Abbas, McKnight, Barbara, van Duijn, Cornelia M., Morrison, Alanna, Psaty, Bruce M., Boerwinkle, Eric, Fox, Caroline S., Woodward, Owen M., Köttgen, Anna
Publicado 2018

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

por Zufferey, Flore, Sherr, Elliott H, Beckmann, Noam D, Hanson, Ellen, Maillard, Anne M, Hippolyte, Loyse, Macé, Aurélien, Ferrari, Carina, Kutalik, Zoltán, Andrieux, Joris, Aylward, Elizabeth, Barker, Mandy, Bernier, Raphael, Bouquillon, Sonia, Conus, Philippe, Delobel, Bruno, Faucett, W Andrew, Goin-Kochel, Robin P, Grant, Ellen, Harewood, Louise, Hunter, Jill V, Lebon, Sébastien, Ledbetter, David H, Martin, Christa Lese, Männik, Katrin, Martinet, Danielle, Mukherjee, Pratik, Ramocki, Melissa B, Spence, Sarah J, Steinman, Kyle J, Tjernagel, Jennifer, Spiro, John E, Reymond, Alexandre, Beckmann, Jacques S, Chung, Wendy K, Jacquemont, Sébastien
Publicado 2012

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

por Hoggart, Clive J., Venturini, Giulia, Mangino, Massimo, Gomez, Felicia, Ascari, Giulia, Zhao, Jing Hua, Teumer, Alexander, Winkler, Thomas W., Tšernikova, Natalia, Luan, Jian'an, Mihailov, Evelin, Ehret, Georg B., Zhang, Weihua, Lamparter, David, Esko, Tõnu, Macé, Aurelien, Rüeger, Sina, Bochud, Pierre-Yves, Barcella, Matteo, Dauvilliers, Yves, Benyamin, Beben, Evans, David M., Hayward, Caroline, Lopez, Mary F., Franke, Lude, Russo, Alessia, Heid, Iris M., Salvi, Erika, Vendantam, Sailaja, Arking, Dan E., Boerwinkle, Eric, Chambers, John C., Fiorito, Giovanni, Grallert, Harald, Guarrera, Simonetta, Homuth, Georg, Huffman, Jennifer E., Porteous, David, Moradpour, Darius, Iranzo, Alex, Hebebrand, Johannes, Kemp, John P., Lammers, Gert J., Aubert, Vincent, Heim, Markus H., Martin, Nicholas G., Montgomery, Grant W., Peraita-Adrados, Rosa, Santamaria, Joan, Negro, Francesco, Schmidt, Carsten O., Scott, Robert A., Spector, Tim D., Strauch, Konstantin, Völzke, Henry, Wareham, Nicholas J., Yuan, Wei, Bell, Jordana T., Chakravarti, Aravinda, Kooner, Jaspal S., Peters, Annette, Matullo, Giuseppe, Wallaschofski, Henri, Whitfield, John B., Paccaud, Fred, Vollenweider, Peter, Bergmann, Sven, Beckmann, Jacques S., Tafti, Mehdi, Hastie, Nicholas D., Cusi, Daniele, Bochud, Murielle, Frayling, Timothy M., Metspalu, Andres, Jarvelin, Marjo-Riitta, Scherag, André, Smith, George Davey, Borecki, Ingrid B., Rousson, Valentin, Hirschhorn, Joel N., Rivolta, Carlo, Loos, Ruth J. F., Kutalik, Zoltán
Publicado 2014

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

por O'Seaghdha, Conall M., Wu, Hongsheng, Yang, Qiong, Kapur, Karen, Guessous, Idris, Zuber, Annie Mercier, Köttgen, Anna, Stoudmann, Candice, Teumer, Alexander, Kutalik, Zoltán, Mangino, Massimo, Dehghan, Abbas, Zhang, Weihua, Eiriksdottir, Gudny, Li, Guo, Tanaka, Toshiko, Portas, Laura, Lopez, Lorna M., Hayward, Caroline, Lohman, Kurt, Matsuda, Koichi, Padmanabhan, Sandosh, Firsov, Dmitri, Sorice, Rossella, Ulivi, Sheila, Brockhaus, A. Catharina, Kleber, Marcus E., Mahajan, Anubha, Ernst, Florian D., Gudnason, Vilmundur, Launer, Lenore J., Mace, Aurelien, Boerwinckle, Eric, Arking, Dan E., Tanikawa, Chizu, Nakamura, Yusuke, Brown, Morris J., Gaspoz, Jean-Michel, Theler, Jean-Marc, Siscovick, David S., Psaty, Bruce M., Bergmann, Sven, Vollenweider, Peter, Vitart, Veronique, Wright, Alan F., Zemunik, Tatijana, Boban, Mladen, Kolcic, Ivana, Navarro, Pau, Brown, Edward M., Estrada, Karol, Ding, Jingzhong, Harris, Tamara B., Bandinelli, Stefania, Hernandez, Dena, Singleton, Andrew B., Girotto, Giorgia, Ruggiero, Daniela, d'Adamo, Adamo Pio, Robino, Antonietta, Meitinger, Thomas, Meisinger, Christa, Davies, Gail, Starr, John M., Chambers, John C., Boehm, Bernhard O., Winkelmann, Bernhard R., Huang, Jie, Murgia, Federico, Wild, Sarah H., Campbell, Harry, Morris, Andrew P., Franco, Oscar H., Hofman, Albert, Uitterlinden, Andre G., Rivadeneira, Fernando, Völker, Uwe, Hannemann, Anke, Biffar, Reiner, Hoffmann, Wolfgang, Shin, So–Youn, Lescuyer, Pierre, Henry, Hughes, Schurmann, Claudia, Munroe, Patricia B., Gasparini, Paolo, Pirastu, Nicola, Ciullo, Marina, Gieger, Christian, März, Winfried, Lind, Lars, Spector, Tim D., Smith, Albert V., Rudan, Igor, Wilson, James F., Polasek, Ozren, Deary, Ian J., Pirastu, Mario, Ferrucci, Luigi, Liu, Yongmei, Kestenbaum, Bryan, Kooner, Jaspal S., Witteman, Jacqueline C. M., Nauck, Matthias, Kao, W. H. Linda, Wallaschofski, Henri, Bonny, Olivier, Fox, Caroline S., Bochud, Murielle
Publicado 2013

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

por Macé, Aurélien, Tuke, Marcus A., Deelen, Patrick, Kristiansson, Kati, Mattsson, Hannele, Nõukas, Margit, Sapkota, Yadav, Schick, Ursula, Porcu, Eleonora, Rüeger, Sina, McDaid, Aaron F., Porteous, David, Winkler, Thomas W., Salvi, Erika, Shrine, Nick, Liu, Xueping, Ang, Wei Q., Zhang, Weihua, Feitosa, Mary F., Venturini, Cristina, van der Most, Peter J., Rosengren, Anders, Wood, Andrew R., Beaumont, Robin N., Jones, Samuel E., Ruth, Katherine S., Yaghootkar, Hanieh, Tyrrell, Jessica, Havulinna, Aki S., Boers, Harmen, Mägi, Reedik, Kriebel, Jennifer, Müller-Nurasyid, Martina, Perola, Markus, Nieminen, Markku, Lokki, Marja-Liisa, Kähönen, Mika, Viikari, Jorma S., Geller, Frank, Lahti, Jari, Palotie, Aarno, Koponen, Päivikki, Lundqvist, Annamari, Rissanen, Harri, Bottinger, Erwin P., Afaq, Saima, Wojczynski, Mary K., Lenzini, Petra, Nolte, Ilja M., Sparsø, Thomas, Schupf, Nicole, Christensen, Kaare, Perls, Thomas T., Newman, Anne B., Werge, Thomas, Snieder, Harold, Spector, Timothy D., Chambers, John C., Koskinen, Seppo, Melbye, Mads, Raitakari, Olli T., Lehtimäki, Terho, Tobin, Martin D., Wain, Louise V., Sinisalo, Juha, Peters, Annette, Meitinger, Thomas, Martin, Nicholas G., Wray, Naomi R., Montgomery, Grant W., Medland, Sarah E., Swertz, Morris A., Vartiainen, Erkki, Borodulin, Katja, Männistö, Satu, Murray, Anna, Bochud, Murielle, Jacquemont, Sébastien, Rivadeneira, Fernando, Hansen, Thomas F., Oldehinkel, Albertine J., Mangino, Massimo, Province, Michael A., Deloukas, Panos, Kooner, Jaspal S., Freathy, Rachel M., Pennell, Craig, Feenstra, Bjarke, Strachan, David P., Lettre, Guillaume, Hirschhorn, Joel, Cusi, Daniele, Heid, Iris M., Hayward, Caroline, Männik, Katrin, Beckmann, Jacques S., Loos, Ruth J. F., Nyholt, Dale R., Metspalu, Andres, Eriksson, Johan G., Weedon, Michael N., Salomaa, Veikko, Franke, Lude, Reymond, Alexandre, Frayling, Timothy M., Kutalik, Zoltán
Publicado 2017