Connecting electronic health records to a biomedical knowledge graph to link clinical phenotypes and molecular endotypes in atopic dermatitis.

Authors: Frau, Francesca¹ (AUTHOR), Loustalot, Paul² (AUTHOR), Törnqvist, Margaux² (AUTHOR), Temam, Nina² (AUTHOR), Cupe, Jean² (AUTHOR), Montmerle, Martin² (AUTHOR), Augé, Franck³ (AUTHOR) franck.auge@servier.com

Source: Scientific Reports. 1/24/2025, Vol. 15 Issue 1, p1-15. 15p.

Subject Terms: *KNOWLEDGE graphs, *ELECTRONIC health records, *REPRESENTATIONS of graphs, *ATOPIC dermatitis, *INDIVIDUALIZED medicine

Variability between observers does not hamper detecting change over time in a temperate reef

Authors: Azzola, Annalisa, Atzori, Fabrizio, Bianchi, Carlo Nike, Cadoni, Nicoletta, Frau, Francesca, Mora, Federico, Morri, Carla, Oprandi, Alice, Orrù, Paolo Emanuele, Montefalcone, Monica

Source: In Marine Environmental Research May 2022 177

Genetic studies of abdominal MRI data identify genes regulating hepcidin as major determinants of liver iron concentration

Authors: Jennison, Christopher, Ehrhardt, Beate, Baum, Patrick, Schoelsch, Corinna, Freijer, Jan, Grempler, Rolf, Graefe-Mody, Ulrike, Hennige, Anita, Dings, Christiane, Lehr, Thorsten, Scherer, Nina, Sihinecich, Iryna, Pattou, Francois, Raverdi, Violeta, Caiazzo, Robert, Torres, Fanelly, Verkindt, Helene, Mari, Andrea, Tura, Andrea, Giorgino, Toni, Bizzotto, Roberto, Froguel, Philippe, Bonneford, Amelie, Canouil, Mickael, Dhennin, Veronique, Brorsson, Caroline, Brunak, Soren, De Masi, Federico, Gudmundsdóttir, Valborg, Pedersen, Helle, Banasik, Karina, Thomas, Cecilia, Sackett, Peter, Staerfeldt, Hans-Henrik, Lundgaard, Agnete, Nilsson, Birgitte, Nielsen, Agnes, Mazzoni, Gianluca, Karaderi, Tugce, Rasmussen, Simon, Johansen, Joachim, Allesøe, Rosa, Fritsche, Andreas, Thorand, Barbara, Adamski, Jurek, Grallert, Harald, Haid, Mark, Sharma, Sapna, Troll, Martina, Adam, Jonathan, Ferrer, Jorge, Eriksen, Heather, Frost, Gary, Haussler, Ragna, Hong, Mun-gwan, Schwenk, Jochen, Uhlen, Mathias, Nicolay, Claudia, Pavo, Imre, Steckel-Hamann, Birgit, Thomas, Melissa, Adragni, Kofi, Wu, Han, Hart, Leen't, Roderick, Slieker, van Leeuwen, Nienke, Dekkers, Koen, Frau, Francesca, Gassenhuber, Johann, Jablonka, Bernd, Musholt, Petra, Ruetten, Hartmut, Tillner, Joachim, Baltauss, Tania, Bernard Poenaru, Oana, de Preville, Nathalie, Rodriquez, Marianne, Arumugam, Manimozhiyan, Allin, Kristine, Engelbrechtsen, Line, Hansen, Torben, Hansen, Tue, Forman, Annemette, Jonsson, Anna, Pedersen, Oluf, Dutta, Avirup, Vogt, Josef, Vestergaard, Henrik, Laakso, Markku, Kokkola, Tarja, Kuulasmaa, Teemu, Franks, Paul, Giordano, Nick, Pomares-Millan, Hugo, Fitipaldi, Hugo, Mutie, Pascal, Klintenberg, Maria, Bergstrom, Margit, Groop, Leif, Ridderstrale, Martin, Atabaki Pasdar, Naeimeh, Deshmukh, Harshal, Heggie, Alison, Wake, Dianne, McEvoy, Donna, McVittie, Ian, Walker, Mark, Hattersley, Andrew, Hill, Anita, Jones, Angus, McDonald, Timothy, Perry, Mandy, Nice, Rachel, Hudson, Michelle, Thorne, Claire, Dermitzakis, Emmanouil, Viñuela, Ana, Cabrelli, Louise, Loftus, Heather, Dawed, Adem, Donnelly, Louise, Forgie, Ian, Pearson, Ewan, Palmer, Colin, Brown, Andrew, Koivula, Robert, Wesolowska-Andersen, Agata, Abdalla, Moustafa, McRobert, Nicky, Fernandez, Juan, Jiao, Yunlong, Robertson, Neil, Gough, Stephen, Kaye, Jane, Mourby, Miranda, Mahajan, Anubha, McCarthy, Mark, Shah, Nisha, Teare, Harriet, Holl, Reinhard, Koopman, Anitra, Rutters, Femke, Beulens, Joline, Groeneveld, Lenka, Bell, Jimmy, Thomas, Louise, Whitcher, Brandon, Wilman, Henry R., Parisinos, Constantinos A., Atabaki-Pasdar, Naeimeh, Kelly, Matt, Thomas, E. Louise, Neubauer, Stefan, Hingorani, Aroon D., Patel, Riyaz S., Hemingway, Harry, Franks, Paul W., Bell, Jimmy D., Banerjee, Rajarshi, Yaghootkar, Hanieh

Source: In Journal of Hepatology September 2019 71(3):594-602

Type-2 diabetes-associated variants with cross-trait relevance: Post-GWAs strategies for biological function interpretation

Authors: Frau, Francesca, Crowther, Daniel, Ruetten, Hartmut, Allebrandt, Karla V.

Source: In Molecular Genetics and Metabolism May 2017 121(1):43-50

Disease progression strikingly differs in research and real-world Parkinson's populations.

Authors: Beaulieu-Jones, Brett K., Frau, Francesca, Bozzi, Sylvie, Chandross, Karen J., Peterschmitt, M. Judith, Cohen, Caroline, Coulovrat, Catherine, Kumar, Dinesh, Kruger, Mark J., Lipnick, Scott L., Fitzsimmons, Lane, Kohane, Isaac S., Scherzer, Clemens R.

Source: NPJ Parkinson's Disease; 3/13/2024, Vol. 10 Issue 1, p1-11, 11p

Meta-analysis of Gene-Level Associations for Rare Variants Based on Single-Variant Statistics

Authors: Berndt, Sonja I., Gustafsson, Stefan, Mägi, Reedik, Ganna, Andrea, Wheeler, Eleanor, Feitosa, Mary F., Justice, Anne E., Monda, Keri L., Croteau-Chonka, Damien C., Day, Felix R., Esko, Tõnu, Fall, Tove, Ferreira, Teresa, Gentilini, Davide, Jackson, Anne U., Luan, Jian’an, Randall, Joshua C., Vedantam, Sailaja, Willer, Cristen J., Winkler, Thomas W., Wood, Andrew R., Workalemahu, Tsegaselassie, Hu, Yi-Juan, Lee, Sang Hong, Liang, Liming, Lin, Dan-Yu, Min, Josine L., Neale, Benjamin M., Thorleifsson, Gudmar, Yang, Jian, Albrecht, Eva, Amin, Najaf, Bragg-Gresham, Jennifer L., Cadby, Gemma, den Heijer, Martin, Eklund, Niina, Fischer, Krista, Goel, Anuj, Hottenga, Jouke-Jan, Huffman, Jennifer E., Jarick, Ivonne, Johansson, Åsa, Johnson, Toby, Kanoni, Stavroula, Kleber, Marcus E., König, Inke R., Kristiansson, Kati, Kutalik, Zoltán, Lamina, Claudia, Lecoeur, Cecile, Li, Guo, Mangino, Massimo, McArdle, Wendy L., Medina-Gomez, Carolina, Müller-Nurasyid, Martina, Ngwa, Julius S., Nolte, Ilja M., Paternoster, Lavinia, Pechlivanis, Sonali, Perola, Markus, Peters, Marjolein J., Preuss, Michael, Rose, Lynda M., Shi, Jianxin, Shungin, Dmitry, Smith, Albert Vernon, Strawbridge, Rona J., Surakka, Ida, Teumer, Alexander, Trip, Mieke D., Tyrer, Jonathan, Van Vliet-Ostaptchouk, Jana V., Vandenput, Liesbeth, Waite, Lindsay L., Zhao, Jing Hua, Absher, Devin, Asselbergs, Folkert W., Atalay, Mustafa, Attwood, Antony P., Balmforth, Anthony J., Basart, Hanneke, Beilby, John, Bonnycastle, Lori L., Brambilla, Paolo, Bruinenberg, Marcel, Campbell, Harry, Chasman, Daniel I., Chines, Peter S., Collins, Francis S., Connell, John M., Cookson, William, de Faire, Ulf, de Vegt, Femmie, Dei, Mariano, Dimitriou, Maria, Edkins, Sarah, Estrada, Karol, Evans, David M., Farrall, Martin, Ferrario, Marco M., Ferrières, Jean, Franke, Lude, Frau, Francesca, Gejman, Pablo V., Grallert, Harald, Grönberg, Henrik, Gudnason, Vilmundur, Hall, Alistair S., Hall, Per, Hartikainen, Anna-Liisa, Hayward, Caroline, Heard-Costa, Nancy L., Heath, Andrew C., Hebebrand, Johannes, Homuth, Georg, Hu, Frank B., Hunt, Sarah E., Hyppönen, Elina, Iribarren, Carlos, Jacobs, Kevin B., Jansson, John-Olov, Jula, Antti, Kähönen, Mika, Kathiresan, Sekar, Kee, Frank, Khaw, Kay-Tee, Kivimaki, Mika, Koenig, Wolfgang, Kraja, Aldi T., Kumari, Meena, Kuulasmaa, Kari, Kuusisto, Johanna, Laitinen, Jaana H., Lakka, Timo A., Langenberg, Claudia, Launer, Lenore J., Lind, Lars, Lindström, Jaana, Liu, Jianjun, Liuzzi, Antonio, Lokki, Marja-Liisa, Lorentzon, Mattias, Madden, Pamela A., Magnusson, Patrik K., Manunta, Paolo, Marek, Diana, März, Winfried, Leach, Irene Mateo, McKnight, Barbara, Medland, Sarah E., Mihailov, Evelin, Milani, Lili, Montgomery, Grant W., Mooser, Vincent, Mühleisen, Thomas W., Munroe, Patricia B., Musk, Arthur W., Narisu, Narisu, Navis, Gerjan, Nicholson, George, Nohr, Ellen A., Ong, Ken K., Oostra, Ben A., Palmer, Colin N.A., Palotie, Aarno, Peden, John F., Pedersen, Nancy, Peters, Annette, Polasek, Ozren, Pouta, Anneli, Pramstaller, Peter P., Prokopenko, Inga, Pütter, Carolin, Radhakrishnan, Aparna, Raitakari, Olli, Rendon, Augusto, Rivadeneira, Fernando, Rudan, Igor, Saaristo, Timo E., Sambrook, Jennifer G., Sanders, Alan R., Sanna, Serena, Saramies, Jouko, Schipf, Sabine, Schreiber, Stefan, Schunkert, Heribert, Shin, So-Youn, Signorini, Stefano, Sinisalo, Juha, Skrobek, Boris, Soranzo, Nicole, Stančáková, Alena, Stark, Klaus, Stephens, Jonathan C., Stirrups, Kathleen, Stolk, Ronald P., Stumvoll, Michael, Swift, Amy J., Theodoraki, Eirini V., Thorand, Barbara, Tregouet, David-Alexandre, Tremoli, Elena, Van der Klauw, Melanie M., van Meurs, Joyce B.J., Vermeulen, Sita H., Viikari, Jorma, Virtamo, Jarmo, Vitart, Veronique, Waeber, Gérard, Wang, Zhaoming, Widén, Elisabeth, Wild, Sarah H., Willemsen, Gonneke, Winkelmann, Bernhard R., Witteman, Jacqueline C.M., Wolffenbuttel, Bruce H.R., Wong, Andrew, Wright, Alan F., Zillikens, M. Carola, Amouyel, Philippe, Boehm, Bernhard O., Boerwinkle, Eric, Boomsma, Dorret I., Caulfield, Mark J., Chanock, Stephen J., Cupples, L. Adrienne, Cusi, Daniele, Dedoussis, George V., Erdmann, Jeanette, Eriksson, Johan G., Franks, Paul W., Froguel, Philippe, Gieger, Christian, Gyllensten, Ulf, Hamsten, Anders, Harris, Tamara B., Hengstenberg, Christian, Hicks, Andrew A., Hingorani, Aroon, Hinney, Anke, Hofman, Albert, Hovingh, Kees G., Hveem, Kristian, Illig, Thomas, Jarvelin, Marjo-Riitta, Jöckel, Karl-Heinz, Keinanen-Kiukaanniemi, Sirkka M., Kiemeney, Lambertus A., Kuh, Diana, Laakso, Markku, Lehtimäki, Terho, Levinson, Douglas F., Martin, Nicholas G., Metspalu, Andres, Morris, Andrew D., Nieminen, Markku S., Njølstad, Inger, Ohlsson, Claes, Oldehinkel, Albertine J., Ouwehand, Willem H., Palmer, Lyle J., Penninx, Brenda, Power, Chris, Province, Michael A., Psaty, Bruce M., Qi, Lu, Rauramaa, Rainer, Ridker, Paul M., Ripatti, Samuli, Salomaa, Veikko, Samani, Nilesh J., Snieder, Harold, Sørensen, Thorkild I.A., Spector, Timothy D., Stefansson, Kari, Tönjes, Anke, Tuomilehto, Jaakko, Uitterlinden, André G., Uusitupa, Matti, van der Harst, Pim, Vollenweider, Peter, Wallaschofski, Henri, Wareham, Nicholas J., Watkins, Hugh, Wichmann, H.-Erich, Wilson, James F., Abecasis, Goncalo R., Assimes, Themistocles L., Barroso, Inês, Boehnke, Michael, Borecki, Ingrid B., Deloukas, Panos, Fox, Caroline S., Frayling, Timothy, Groop, Leif C., Haritunian, Talin, Heid, Iris M., Hunter, David, Kaplan, Robert C., Karpe, Fredrik, Moffatt, Miriam, Mohlke, Karen L., O’Connell, Jeffrey R., Pawitan, Yudi, Schadt, Eric E., Schlessinger, David, Steinthorsdottir, Valgerdur, Strachan, David P., Thorsteinsdottir, Unnur, van Duijn, Cornelia M., Visscher, Peter M., Di Blasio, Anna Maria, Hirschhorn, Joel N., Lindgren, Cecilia M., Morris, Andrew P., Meyre, David, Scherag, André, McCarthy, Mark I., Speliotes, Elizabeth K., North, Kari E., Loos, Ruth J.F., Ingelsson, Erik, Hirschhorn, Joel

Source: In The American Journal of Human Genetics 8 August 2013 93(2):236-248

Genome-wide association study identifies CAMKID variants involved in blood pressure response to losartan: the SOPHIA study

Authors: Frau, Francesca, Zaninello, Roberta, Salvi, Erika, Ortu, Maria Francesca, Braga, Daniele, Velayutham, Dinesh, Argiolas, Giuseppe, Fresu, Giovanni, Troffa, Chiara, Bulla, Emanuela, Bulla, Patrizia, Pitzoi, Silvia, Piras, Daniela Antonella, Glorioso, Valeria, Chittani, Martina, Bernini, Giampaolo, Bardini, Michele, Fallo, Francesco, Malatino, Lorenzo, Stancanelli, Benedetta, Regolisti, Giuseppe, Ferri, Claudio, Desideri, Giovanbattista, Scioli, Giuseppe Antonio, Galletti, Ferruccio, Sciacqua, Angela, Perticone, Francesco, Degli Esposti, Ezio, Sturani, Alessandra, Semplicini, Andrea, Veglio, Franco, Mulatero, Paolo, Williams, Tracy A, Lanzani, Chiara, Hiltunen, Timo P, Kontula, Kimmo, Boerwinkle, Eric, Turner, Stephen T, Manunta, Paolo, Barlassina, Cristina, Cusi, Daniele, Glorioso, Nicola

Source: Pharmacogenomics. 15(13):1643-1652

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100123670958.0x000001&indx=1&recIds=ETOCvdc_100123670958.0x000001

Haplotypes of the adrenergic system predict the blood pressure response to β-blockers in women with essential hypertension

Authors: Filigheddu, Fabiana, Argiolas, Giuseppe, Degortes, Simona, Zaninello, Roberta, Frau, Francesca, Pitzoi, Silvia, Bulla, Emanuela, Bulla, Patrizia, Troffa, Chiara, Glorioso, Nicola

Source: Pharmacogenomics. 11(3):319-325

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100121254844.0x000001&indx=1&recIds=ETOCvdc_100121254844.0x000001

Clinical variables, not RAAS polymorphisms, predict blood pressure response to ACE inhibitors in Sardinians

Authors: Filigheddu, Fabiana, Argiolas, Giuseppe, Bulla, Emanuela, Troffa, Chiara, Bulla, Patrizia, Fadda, Simone, Zaninello, Roberta, Degortes, Simona, Frau, Francesca, Pitzoi, Silvia, Glorioso, Nicola

Source: Pharmacogenomics. 9(10):1419-1427

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100121263017.0x000001&indx=1&recIds=ETOCvdc_100121263017.0x000001

Prevalence and clinical features of heterozygous carriers of autosomal recessive hypercholesterolemia in Sardinia

Authors: Filigheddu, Fabiana, Quagliarini, Fabiana, Campagna, Filomena, Secci, Tanuccia, Degortes, Simona, Zaninello, Roberta, Argiolas, Giuseppe, Verna, Roberto, Pitzoi, Silvia, Frau, Francesca, Troffa, Chiara, Bulla, Emanuela, Bertolini, Stefano, Glorioso, Nicola, Arca, Marcello

Source: In Atherosclerosis 2009 207(1):162-167

Sea urchin harvest inside marine protected areas: an opportunity to investigate the effects of exploitation where trophic upgrading is achieved.

Authors: Ceccherelli, Giulia, Addis, Piero, Atzori, Fabrizio, Cadoni, Nicoletta, Casu, Marco, Coppa, Stefania, De Luca, Mario, Andrea de Lucia, Giuseppe, Farina, Simone, Fois, Nicola, Frau, Francesca, Gazale, Vittorio, Grech, Daniele, Guala, Ivan, Mariani, Mariano, Marras, Massimo S. G., Navone, Augusto, Pansini, Arianna, Panzalis, Pieraugusto, Pinna, Federico

Source: PeerJ; Mar2022, p1-22, 22p

Subject Terms: SEA urchins, MARINE parks & reserves, PARACENTROTUS lividus, FRUIT quality

Geographic Terms: SARDINIA (Italy)

Accelerating diagnosis of Parkinson's disease through risk prediction.

Authors: Yuan, William, Beaulieu-Jones, Brett, Krolewski, Richard, Palmer, Nathan, Veyrat-Follet, Christine, Frau, Francesca, Cohen, Caroline, Bozzi, Sylvie, Cogswell, Meaghan, Kumar, Dinesh, Coulouvrat, Catherine, Leroy, Bruno, Fischer, Tanya Z., Sardi, S. Pablo, Chandross, Karen J., Rubin, Lee L., Wills, Anne-Marie, Kohane, Isaac, Lipnick, Scott L.

Source: BMC Neurology; 5/18/2021, Vol. 21 Issue 1, p1-12, 12p

Subject Terms: PARKINSON'S disease, DIAGNOSIS, TREMOR, PATHOLOGY, MEDICAL personnel, GAIT disorders, MOVEMENT disorders

Trends in summer presence of fin whales in the Western Mediterranean Sea Region: new insights from a long-term monitoring program.

Authors: Tepsich, Paola, Schettino, Ilaria, Atzori, Fabrizio, Azzolin, Marta, Campana, Ilaria, Carosso, Lara, Cominelli, Simone, Crosti, Roberto, David, Léa, Di-Méglio, Nathalie, Frau, Francesca, Gregorietti, Martina, Mazzucato, Veronica, Monaco, Clara, Moulins, Aurelie, Paraboschi, Miriam, Pellegrino, Giuliana, Rosso, Massimiliano, Roul, Marine, Saintignan, Sébastien

Source: PeerJ; Dec2020, p1-27, 27p

Subject Terms: WHALES, HABITAT conservation, ENDANGERED species, SPECIES distribution, SUMMER

Predicting and elucidating the etiology of fatty liver disease: A machine learning modeling and validation study in the IMI DIRECT cohorts.

Authors: Atabaki-Pasdar, Naeimeh, Ohlsson, Mattias, Viñuela, Ana, Frau, Francesca, Pomares-Millan, Hugo, Haid, Mark, Jones, Angus G., Thomas, E. Louise, Koivula, Robert W., Kurbasic, Azra, Mutie, Pascal M., Fitipaldi, Hugo, Fernandez, Juan, Dawed, Adem Y., Giordano, Giuseppe N., Forgie, Ian M., McDonald, Timothy J., Rutters, Femke, Cederberg, Henna, Chabanova, Elizaveta

Source: PLoS Medicine; 6/19/2020, Vol. 17 Issue 6, p1-27, 27p, 1 Diagram, 2 Charts, 5 Graphs

Subject Terms: FATTY liver, LIVER disease etiology, MACHINE learning, LIVER disease diagnosis, MODEL validation, RECEIVER operating characteristic curves

Genome-Wide and Abdominal MRI Data Provide Evidence That a Genetically Determined Favorable Adiposity Phenotype Is Characterized by Lower Ectopic Liver Fat and Lower Risk of Type 2 Diabetes, Heart Disease, and Hypertension.

Authors: Yingjie Ji, Yiorkas, Andrianos M., Frau, Francesca, Mook-Kanamori, Dennis, Staiger, Harald, Thomas, E.Louise, Atabaki-Pasdar, Naeimeh, Campbell, Archie, Tyrrell, Jessica, Jones, Samuel E., Beaumont, Robin N., Wood, Andrew R., Tuke, Marcus A., Ruth, Katherine S., Mahajan, Anubha, Murray, Anna, Freathy, Rachel M., Weedon, Michael N., Hattersley, Andrew T., Hayward, Caroline

Source: Diabetes; Jan2019, Vol. 68 Issue 1, p207-219, 13p

Subject Terms: TYPE 2 diabetes, MAGNETIC resonance imaging, FATTY liver, HEART disease risk factors, DIABETES risk factors, HYPERTENSION, ADIPOSE tissues, ADIPOSE tissue physiology, COMPARATIVE studies, HEART diseases, RESEARCH methodology, MEDICAL cooperation, OBESITY, RESEARCH, RESEARCH funding, EVALUATION research, WAIST-hip ratio, SEQUENCE analysis

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