Search Results - "Brumat, Marco"

A bird's-eye view of Italian genomic variation through whole-genome sequencing by Cocca, Massimiliano, Barbieri, Caterina, Concas, Maria Pina, Robino, Antonietta, Brumat, Marco, Gandin, Ilaria, Trudu, Matteo, Sala, Cinzia Felicita, Vuckovic, Dragana, Girotto, Giorgia, Matullo, Giuseppe, Polasek, Ozren, Kolčić, Ivana, Gasparini, Paolo, Soranzo, Nicole, Toniolo, Daniela, Mezzavilla, Massimo

“…The genomic variation of the Italian peninsula populations is currently under characterised: the only Italian whole-genome reference is represented by the…”
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Cx26 partial loss causes accelerated presbycusis by redox imbalance and dysregulation of Nfr2 pathway by Fetoni, Anna Rita, Zorzi, Veronica, Paciello, Fabiola, Ziraldo, Gaia, Peres, Chiara, Raspa, Marcello, Scavizzi, Ferdinando, Salvatore, Anna Maria, Crispino, Giulia, Tognola, Gabriella, Gentile, Giulia, Spampinato, Antonio Gianmaria, Cuccaro, Denis, Guarnaccia, Maria, Morello, Giovanna, Van Camp, Guy, Fransen, Erik, Brumat, Marco, Girotto, Giorgia, Paludetti, Gaetano, Gasparini, Paolo, Cavallaro, Sebastiano, Mammano, Fabio

“…Mutations in GJB2, the gene that encodes connexin 26 (Cx26), are the most common cause of sensorineural hearing impairment. The truncating variant 35delG,…”
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Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations by Morgan, Anna, Lenarduzzi, Stefania, Cappellani, Stefania, Pecile, Vanna, Morgutti, Marcello, Orzan, Eva, Ghiselli, Sara, Ambrosetti, Umberto, Brumat, Marco, Gajendrarao, Poornima, La Bianca, Martina, Faletra, Flavio, Grosso, Enrico, Sirchia, Fabio, Sensi, Alberto, Graziano, Claudio, Seri, Marco, Gasparini, Paolo, Girotto, Giorgia

“…Hereditary hearing loss (HHL) is a common disorder characterized by a huge genetic heterogeneity. The definition of a correct molecular diagnosis is essential…”
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Next Generation Sequencing and Animal Models Reveal SLC9A3R1 as a New Gene Involved in Human Age-Related Hearing Loss by Girotto, Giorgia, Morgan, Anna, Krishnamoorthy, Navaneethakrishnan, Cocca, Massimiliano, Brumat, Marco, Bassani, Sissy, La Bianca, Martina, Di Stazio, Mariateresa, Gasparini, Paolo

“…Age-related hearing loss (ARHL) is the most common sensory impairment in the elderly affecting millions of people worldwide. To shed light on the genetics of…”
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F cell numbers are associated with an X‐linked genetic polymorphism and correlate with haematological parameters in patients with sickle cell disease by Urio, Florence, Nkya, Siana, Rooks, Helen, Mgaya, Josephine A., Masamu, Upendo, Zozimus Sangeda, Raphael, Mmbando, Bruno P., Brumat, Marco, Mselle, Ted, Menzel, Stephan, Luzzatto, Lucio, Makani, Julie

“…Summary Patients with sickle cell disease (SCD) with high fetal haemoglobin (HbF) tend to have a lower incidence of complications and longer survival due to…”
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Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability by Hysi, Pirro G., Valdes, Ana M., Liu, Fan, Furlotte, Nicholas A., Evans, David M., Bataille, Veronique, Visconti, Alessia, Hemani, Gibran, McMahon, George, Ring, Susan M., Smith, George Davey, Duffy, David L., Zhu, Gu, Gordon, Scott D., Medland, Sarah E., Lin, Bochao D., Willemsen, Gonneke, Jan Hottenga, Jouke, Vuckovic, Dragana, Girotto, Giorgia, Gandin, Ilaria, Sala, Cinzia, Concas, Maria Pina, Brumat, Marco, Gasparini, Paolo, Toniolo, Daniela, Cocca, Massimiliano, Robino, Antonietta, Yazar, Seyhan, Hewitt, Alex W., Chen, Yan, Zeng, Changqing, Uitterlinden, Andre G., Ikram, M. Arfan, Hamer, Merel A., van Duijn, Cornelia M., Nijsten, Tamar, Mackey, David A., Falchi, Mario, Boomsma, Dorret I., Martin, Nicholas G., Hinds, David A., Kayser, Manfred, Spector, Timothy D.

“…Hair color is one of the most recognizable visual traits in European populations and is under strong genetic control. Here we report the results of a…”
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Whole-genome sequencing reveals new insights into age-related hearing loss: cumulative effects, pleiotropy and the role of selection by Vuckovic, Dragana, Mezzavilla, Massimo, Cocca, Massimiliano, Morgan, Anna, Brumat, Marco, Catamo, Eulalia, Concas, Maria Pina, Biino, Ginevra, Franzè, Annamaria, Ambrosetti, Umberto, Pirastu, Mario, Gasparini, Paolo, Girotto, Giorgia

“…Age-related hearing loss (ARHL) is the most common sensory disorder in the elderly. Although not directly life threatening, it contributes to loss of autonomy…”
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Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment by Nagtegaal, Andries Paul, Broer, Linda, Zilhao, Nuno R., Jakobsdottir, Johanna, Bishop, Charles E., Brumat, Marco, Christiansen, Mark W., Cocca, Massimiliano, Gao, Yan, Heard-Costa, Nancy L., Evans, Daniel S., Pankratz, Nathan, Pratt, Sheila R., Price, T. Ryan, Spankovich, Christopher, Stimson, Mary R., Valle, Karen, Vuckovic, Dragana, Wells, Helena, Eiriksdottir, Gudny, Fransen, Erik, Ikram, Mohammad Arfan, Li, Chuang-Ming, Longstreth, W. T., Steves, Claire, Van Camp, Guy, Correa, Adolfo, Cruickshanks, Karen J., Gasparini, Paolo, Girotto, Giorgia, Kaplan, Robert C., Nalls, Michael, Schweinfurth, John M., Seshadri, Sudha, Sotoodehnia, Nona, Tranah, Gregory J., Uitterlinden, André G., Wilson, James G., Gudnason, Vilmundur, Hoffman, Howard J., Williams, Frances M. K., Goedegebure, André

“…Previous research has shown that genes play a substantial role in determining a person’s susceptibility to age-related hearing impairment. The existing studies…”
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Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color by Simcoe, Mark, Valdes, Ana, Liu, Fan, Furlotte, Nicholas A, Evans, David M, Hemani, Gibran, Ring, Susan M, Smith, George Davey, Duffy, David L, Zhu, Gu, Gordon, Scott D, Medland, Sarah E, Vuckovic, Dragana, Girotto, Giorgia, Sala, Cinzia, Catamo, Eulalia, Concas, Maria Pina, Brumat, Marco, Gasparini, Paolo, Toniolo, Daniela, Cocca, Massimiliano, Robino, Antonietta, Yazar, Seyhan, Hewitt, Alex, Wu, Wenting, Kraft, Peter, Hammond, Christopher J, Shi, Yuan, Chen, Yan, Zeng, Changqing, Klaver, Caroline C W, Uitterlinden, Andre G, Ikram, M Arfan, Hamer, Merel A, van Duijn, Cornelia M, Nijsten, Tamar, Han, Jiali, Mackey, David A, Martin, Nicholas G, Cheng, Ching-Yu, Hinds, David A, Spector, Timothy D, Kayser, Manfred, Hysi, Pirro G

“…Human eye color is highly heritable, but its genetic architecture is not yet fully understood. We report the results of the largest genome-wide association…”
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Gene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci by de Las Fuentes, Lisa, Sung, Yun Ju, Noordam, Raymond, Winkler, Thomas, Feitosa, Mary, Schwander, Karen, Bentley, Amy, Brown, Michael, Guo, Xiuqing, Manning, Alisa, Chasman, Daniel, Aschard, Hugues, Bartz, Traci, Bielak, Lawrence, Campbell, Archie, Cheng, Ching-Yu, Dorajoo, Rajkumar, Hartwig, Fernando, Horimoto, A., Li, Changwei, Li-Gao, Ruifang, Liu, Yongmei, Marten, Jonathan, Musani, Solomon, Ntalla, Ioanna, Rankinen, Tuomo, Richard, Melissa, Sim, Xueling, Smith, Albert, Tajuddin, Salman, Tayo, Bamidele, Vojinovic, Dina, Warren, Helen, Xuan, Deng, Alver, Maris, Boissel, Mathilde, Chai, Jin-Fang, Chen, Xu, Christensen, Kaare, Divers, Jasmin, Evangelou, Evangelos, Gao, Chuan, Girotto, Giorgia, Harris, Sarah, He, Meian, Hsu, Fang-Chi, Kühnel, Brigitte, Laguzzi, Federica, Li, Xiaoyin, Lyytikäinen, Leo-Pekka, Nolte, Ilja, Poveda, Alaitz, Rauramaa, Rainer, Riaz, Muhammad, Rueedi, Rico, Shu, Xiao-Ou, Snieder, Harold, Sofer, Tamar, Takeuchi, Fumihiko, Verweij, Niek, Ware, Erin, Weiss, Stefan, Yanek, Lisa, Amin, Najaf, Arking, Dan, Arnett, Donna, Bergmann, Sven, Boerwinkle, Eric, Brody, Jennifer, Broeckel, Ulrich, Brumat, Marco, Burke, Gregory, Cabrera, Claudia, Canouil, Mickaël, Chee, Miao Li, Chen, Yii-Der Ida, Cocca, Massimiliano, Connell, John, de Silva, H Janaka, de Vries, Paul, Eiriksdottir, Gudny, Faul, Jessica, Fisher, Virginia, Forrester, Terrence, Fox, Ervin, Friedlander, Yechiel, Gao, He, Gigante, Bruna, Giulianini, Franco, Gu, Chi Charles, Gu, Dongfeng, Harris, Tamara, He, Jiang, Heikkinen, Sami, Heng, Chew-Kiat, Hunt, Steven, Ikram, M Arfan, Irvin, Marguerite, Kähönen, Mika, Kavousi, Maryam

“…Educational attainment is widely used as a surrogate for socioeconomic status (SES). Low SES is a risk factor for hypertension and high blood pressure (BP). To…”
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Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity by Kilpeläinen, Tuomas, Bentley, Amy, Noordam, Raymond, Sung, Yun Ju, Schwander, Karen, Winkler, Thomas, Jakupović, Hermina, Chasman, Daniel, Manning, Alisa, Ntalla, Ioanna, Aschard, Hugues, Brown, Michael, de Las Fuentes, Lisa, Franceschini, Nora, Guo, Xiuqing, Vojinovic, Dina, Aslibekyan, Stella, Feitosa, Mary, Kho, Minjung, Musani, Solomon, Richard, Melissa, Wang, Heming, Wang, Zhe, Bartz, Traci, Bielak, Lawrence, Campbell, Archie, Dorajoo, Rajkumar, Fisher, Virginia, Hartwig, Fernando, Horimoto, Andrea, Li, Changwei, Lohman, Kurt, Marten, Jonathan, Sim, Xueling, Smith, Albert, Tajuddin, Salman, Alver, Maris, Amini, Marzyeh, Boissel, Mathilde, Chai, Jin Fang, Chen, Xu, Divers, Jasmin, Evangelou, Evangelos, Gao, Chuan, Graff, Mariaelisa, Harris, Sarah, He, Meian, Hsu, Fang-Chi, Jackson, Anne, Zhao, Jing Hua, Kraja, Aldi, Kühnel, Brigitte, Laguzzi, Federica, Lyytikäinen, Leo-Pekka, Nolte, Ilja, Rauramaa, Rainer, Riaz, Muhammad, Robino, Antonietta, Rueedi, Rico, Stringham, Heather, Takeuchi, Fumihiko, van Der Most, Peter, Varga, Tibor, Verweij, Niek, Ware, Erin, Wen, Wanqing, Li, Xiaoyin, Yanek, Lisa, Amin, Najaf, Arnett, Donna, Boerwinkle, Eric, Brumat, Marco, Cade, Brian, Canouil, Mickaël, Chen, Yii-Der Ida, Concas, Maria Pina, Connell, John, de Mutsert, Renée, de Silva, H Janaka, de Vries, Paul, Demirkan, Ayşe, Ding, Jingzhong, Eaton, Charles, Faul, Jessica, Friedlander, Yechiel, Gabriel, Kelley, Ghanbari, Mohsen, Giulianini, Franco, Gu, Chi Charles, Gu, Dongfeng, Harris, Tamara, He, Jiang, Heikkinen, Sami, Heng, Chew-Kiat, Hunt, Steven, Ikram, M Arfan, Jonas, Jost, Koh, Woon-Puay, Komulainen, Pirjo, Krieger, Jose

“…Many genetic loci affect circulating lipid levels, but it remains unknown whether lifestyle factors, such as physical activity, modify these genetic effects…”
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Publisher Correction: Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability by Hysi, Pirro G., Valdes, Ana M., Liu, Fan, Furlotte, Nicholas A., Evans, David M., Bataille, Veronique, Visconti, Alessia, Hemani, Gibran, McMahon, George, Ring, Susan M., Smith, George Davey, Duffy, David L., Zhu, Gu, Gordon, Scott D., Medland, Sarah E., Lin, Bochao D., Willemsen, Gonneke, Jan Hottenga, Jouke, Vuckovic, Dragana, Girotto, Giorgia, Gandin, Ilaria, Sala, Cinzia, Concas, Maria Pina, Brumat, Marco, Gasparini, Paolo, Toniolo, Daniela, Cocca, Massimiliano, Robino, Antonietta, Yazar, Seyhan, Hewitt, Alex W., Chen, Yan, Zeng, Changqing, Uitterlinden, Andre G., Ikram, M. Arfan, Hamer, Merel A., van Duijn, Cornelia M., Nijsten, Tamar, Mackey, David A., Falchi, Mario, Boomsma, Dorret I., Martin, Nicholas G., Hinds, David A., Kayser, Manfred, Spector, Timothy D.

“…An amendment to this paper has been published and can be accessed via a link at the top of the paper…”
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Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries by Feitosa, Mary, Kraja, Aldi, Chasman, Daniel, Sung, Yun, Winkler, Thomas, Ntalla, Ioanna, Guo, Xiuqing, Franceschini, Nora, Cheng, Ching-Yu, Sim, Xueling, Vojinovic, Dina, Marten, Jonathan, Musani, Solomon, Li, Changwei, Bentley, Amy, Brown, Michael, Schwander, Karen, Richard, Melissa, Noordam, Raymond, Aschard, Hugues, Bartz, Traci, Bielak, Lawrence, Dorajoo, Rajkumar, Fisher, Virginia, Hartwig, Fernando, Horimoto, Andrea, Lohman, Kurt, Manning, Alisa, Rankinen, Tuomo, Smith, Albert, Tajuddin, Salman, Wojczynski, Mary, Alver, Maris, Boissel, Mathilde, Cai, Qiuyin, Campbell, Archie, Chai, Jin Fang, Chen, Xu, Divers, Jasmin, Gao, Chuan, Goel, Anuj, Hagemeijer, Yanick, Harris, Sarah, He, Meian, Hsu, Fang-Chi, Jackson, Anne, Kähönen, Mika, Kasturiratne, Anuradhani, Komulainen, Pirjo, Kühnel, Brigitte, Laguzzi, Federica, Luan, Jian'An, Matoba, Nana, Nolte, Ilja, Padmanabhan, Sandosh, Riaz, Muhammad, Rueedi, Rico, Robino, Antonietta, Said, M Abdullah, Scott, Robert, Sofer, Tamar, Stančáková, Alena, Takeuchi, Fumihiko, Tayo, Bamidele, van Der Most, Peter, Varga, Tibor, Vitart, Veronique, Wang, Yajuan, Ware, Erin, Warren, Helen, Weiss, Stefan, Wen, Wanqing, Yanek, Lisa, Zhang, Weihua, Zhao, Jing Hua, Afaq, Saima, Amin, Najaf, Amini, Marzyeh, Arking, Dan, Aung, Tin, Boerwinkle, Eric, Borecki, Ingrid, Broeckel, Ulrich, Brown, Morris, Brumat, Marco, Burke, Gregory, Canouil, Mickaël, Chakravarti, Aravinda, Charumathi, Sabanayagam, Ida Chen, Yii-Der, Connell, John, Correa, Adolfo, de Las Fuentes, Lisa, de Mutsert, Renée, de Silva, H Janaka, Deng, Xuan, Ding, Jingzhong, Duan, Qing, Eaton, Charles, Ehret, Georg

“…Heavy alcohol consumption is an established risk factor for hypertension; the mechanism by which alcohol consumption impact blood pressure (BP) regulation…”
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