The Characterization of GSDMB Splicing and Backsplicing Profiles Identifies Novel Isoforms and a Circular RNA That Are Dysregulated in Multiple Sclerosis

Por Cardamone, Giulia, Paraboschi, Elvezia Maria, Rimoldi, Valeria, Duga, Stefano, Soldà, Giulia, Asselta, Rosanna
Publicado no Int J Mol Sci (2017)

Dual Role of G-runs and hnRNP F in the Regulation of a Mutation-Activated Pseudoexon in the Fibrinogen Gamma-Chain Transcript

Por Rimoldi, Valeria, Soldà, Giulia, Asselta, Rosanna, Spena, Silvia, Stuani, Cristiana, Buratti, Emanuele, Duga, Stefano
Publicado em 2013

First Independent Replication of the Involvement of LARS2 in Perrault Syndrome by Whole-Exome Sequencing of an Italian Family

Por Soldà, Giulia, Caccia, Sonia, Robusto, Michela, Chiereghin, Chiara, Castorina, Pierangela, Ambrosetti, Umberto, Duga, Stefano, Asselta, Rosanna
Publicado no J Hum Genet (2015)

Meta-Analysis of Multiple Sclerosis Microarray Data Reveals Dysregulation in RNA Splicing Regulatory Genes

Por Paraboschi, Elvezia Maria, Cardamone, Giulia, Rimoldi, Valeria, Gemmati, Donato, Spreafico, Marta, Duga, Stefano, Soldà, Giulia, Asselta, Rosanna
Publicado no Int J Mol Sci (2015)

A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing

Por Soldà, Giulia, Robusto, Michela, Primignani, Paola, Castorina, Pierangela, Benzoni, Elena, Cesarani, Antonio, Ambrosetti, Umberto, Asselta, Rosanna, Duga, Stefano
Publicado em 2012

Premature termination codon mutations in the von Willebrand factor gene are associated with allele-specific and position-dependent mRNA decay

Por Platè, Manuela, Duga, Stefano, Baronciani, Luciano, La Marca, Silvia, Rubini, Valentina, Mannucci, Pier Mannuccio, Federici, Augusto B., Asselta, Rosanna
Publicado em 2010

Effects of PCSK9 genetic variants on plasma LDL cholesterol levels and risk of premature myocardial infarction in the Italian population

Por Guella, Ilaria, Asselta, Rosanna, Ardissino, Diego, Merlini, Pier Angelica, Peyvandi, Flora, Kathiresan, Sekar, Mannucci, Pier Mannuccio, Tubaro, Marco, Duga, Stefano
Publicado em 2010

SNCA and MAPT genes: Independent and joint effects in Parkinson disease in the Italian population

Por Trotta, Luca, Guella, Ilaria, Soldà, Giulia, Sironi, Francesca, Tesei, Silvana, Canesi, Margherita, Pezzoli, Gianni, Goldwurm, Stefano, Duga, Stefano, Asselta, Rosanna
Publicado em 2012

Glucocerebrosidase mutations in primary parkinsonism

Por Asselta, Rosanna, Rimoldi, Valeria, Siri, Chiara, Cilia, Roberto, Guella, Ilaria, Tesei, Silvana, Soldà, Giulia, Pezzoli, Gianni, Duga, Stefano, Goldwurm, Stefano
Publicado no Parkinsonism Relat Disord (2014)

Genetic Association and Altered Gene Expression of Mir-155 in Multiple Sclerosis Patients

Por Paraboschi, Elvezia Maria, Soldà, Giulia, Gemmati, Donato, Orioli, Elisa, Zeri, Giulia, Benedetti, Maria Donata, Salviati, Alessandro, Barizzone, Nadia, Leone, Maurizio, Duga, Stefano, Asselta, Rosanna
Publicado em 2011

LRRK2 mutations in Parkinson's disease: Confirmation of a gender effect in the Italian population

Por Cilia, Roberto, Siri, Chiara, Rusconi, Damiana, Allegra, Roberta, Ghiglietti, Andrea, Sacilotto, Giorgio, Zini, Michela, Zecchinelli, Anna L., Asselta, Rosanna, Duga, Stefano, Paganoni, Anna M., Pezzoli, Gianni, Seia, Manuela, Goldwurm, Stefano
Publicado em 2014

The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy

Por Robusto, Michela, Fang, Mingyan, Asselta, Rosanna, Castorina, Pierangela, Previtali, Stefano C, Caccia, Sonia, Benzoni, Elena, De Cristofaro, Raimondo, Yu, Cong, Cesarani, Antonio, Liu, Xuanzhu, Li, Wangsheng, Primignani, Paola, Ambrosetti, Umberto, Xu, Xun, Duga, Stefano, Soldà, Giulia
Publicado no Eur J Hum Genet (2015)

Systematic Cell-Based Phenotyping of Missense Alleles Empowers Rare Variant Association Studies: A Case for LDLR and Myocardial Infarction

Por Thormaehlen, Aenne S., Schuberth, Christian, Won, Hong-Hee, Blattmann, Peter, Joggerst-Thomalla, Brigitte, Theiss, Susanne, Asselta, Rosanna, Duga, Stefano, Merlini, Pier Angelica, Ardissino, Diego, Lander, Eric S., Gabriel, Stacey, Rader, Daniel J., Peloso, Gina M., Pepperkok, Rainer, Kathiresan, Sekar, Runz, Heiko
Publicado no PLoS Genet (2015)

Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia

Por Stitziel, Nathan O., Fouchier, Sigrid W., Sjouke, Barbara, Peloso, Gina M., Moscoso, Alessa M., Auer, Paul L., Goel, Anuj, Gigante, Bruna, Barnes, Timothy A., Melander, Olle, Orho-Melander, Marju, Duga, Stefano, Sivapalaratnam, Suthesh, Nikpay, Majid, Martinelli, Nicola, Girelli, Domenico, Jackson, Rebecca D., Kooperberg, Charles, Lange, Leslie A., Ardissino, Diego, McPherson, Ruth, Farrall, Martin, Watkins, Hugh, Reilly, Muredach P., Rader, Daniel J., de Faire, Ulf, Schunkert, Heribert, Erdmann, Jeanette, Samani, Nilesh J., Charnas, Lawrence, Altshuler, David, Gabriel, Stacey, Kastelein, John J.P., Defesche, Joep C., Nederveen, Aart J., Kathiresan, Sekar, Hovingh, G. Kees
Publicado em 2013

Phenotypic Characterization of Genetically Lowered Human Lipoprotein(a) Levels

Por Emdin, Connor A., Khera, Amit V., Natarajan, Pradeep, Klarin, Derek, Won, Hong-Hee, Peloso, Gina M., Stitziel, Nathan O., Nomura, Akihiro, Zekavat, Seyedeh M., Bick, Alexander G., Gupta, Namrata, Asselta, Rosanna, Duga, Stefano, Merlini, Piera Angelica, Correa, Adolfo, Kessler, Thorsten, Wilson, James G., Bown, Matthew J., Hall, Alistair S., Braund, Peter S., Samani, Nilesh J., Schunkert, Heribert, Marrugat, Jaume, Elosua, Roberto, McPherson, Ruth, Farrall, Martin, Watkins, Hugh, Willer, Cristen, Abecasis, Gonçalo R., Felix, Janine F., Vasan, Ramachandran S., Lander, Eric, Rader, Daniel J., Danesh, John, Ardissino, Diego, Gabriel, Stacey, Saleheen, Danish, Kathiresan, Sekar
Publicado no J Am Coll Cardiol (2016)

Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS

Por Smith, Bradley N., Ticozzi, Nicola, Fallini, Claudia, Gkazi, Athina Soragia, Topp, Simon, Kenna, Kevin P., Scotter, Emma L., Kost, Jason, Keagle, Pamela, Miller, Jack W., Calini, Daniela, Vance, Caroline, Danielson, Eric W., Troakes, Claire, Tiloca, Cinzia, Al-Sarraj, Safa, Lewis, Elizabeth A., King, Andrew, Colombrita, Claudia, Pensato, Viviana, Castellotti, Barbara, de Belleroche, Jacqueline, Baas, Frank, ten Asbroek, Anneloor LMA, Sapp, Peter C., McKenna-Yasek, Diane, McLaughlin, Russell L., Polak, Meraida, Asress, Seneshaw, Esteban-Pérez, Jesús, oz-Blanco, José Luis Muñ, Simpson, Michael, Consortium, SLAGEN, van Rheenen, Wouter, Diekstra, Frank P., Lauria, Giuseppe, Duga, Stefano, Corti, Stefania, Cereda, Cristina, Corrado, Lucia, Sorarù, Gianni, Morrison, Karen E., Williams, Kelly L., Nicholson, Garth A., Blair, Ian P., Dion, Patrick A., Leblond, Claire S., Rouleau, Guy A., Hardiman, Orla, Veldink, Jan H., van den Berg, Leonard H., Al-Chalabi, Ammar, Pall, Hardev, Shaw, Pamela J., Turner, Martin R., Talbot, Kevin, Taroni, Franco, García-Redondo, Alberto, Wu, Zheyang, Glass, Jonathan D., Gellera, Cinzia, Ratti, Antonia, Brown, Robert H., Silani, Vincenzo, Shaw, Christopher E., Landers, John E.
Publicado no Neuron (2014)

Multiple rare alleles at LDLR and APOA5 confer risk for early-onset myocardial infarction

Por Do, Ron, Stitziel, Nathan O., Won, Hong-Hee, Jørgensen, Anders Berg, Duga, Stefano, Merlini, Pier Angelica, Kiezun, Adam, Farrall, Martin, Goel, Anuj, Zuk, Or, Guella, Illaria, Asselta, Rosanna, Lange, Leslie A., Peloso, Gina M., Auer, Paul L., Girelli, Domenico, Martinelli, Nicola, Farlow, Deborah N., DePristo, Mark A., Roberts, Robert, Stewart, Alexander F.R., Saleheen, Danish, Danesh, John, Epstein, Stephen E., Sivapalaratnam, Suthesh, Hovingh, G. Kees, Kastelein, John J., Samani, Nilesh J., Schunkert, Heribert, Erdmann, Jeanette, Shah, Svati H., Kraus, William E., Davies, Robert, Nikpay, Majid, Johansen, Christopher T., Wang, Jian, Hegele, Robert A., Hechter, Eliana, Marz, Winfried, Kleber, Marcus E., Huang, Jie, Johnson, Andrew D., Li, Mingyao, Burke, Greg L., Gross, Myron, Liu, Yongmei, Assimes, Themistocles L., Heiss, Gerardo, Lange, Ethan M., Folsom, Aaron R., Taylor, Herman A., Olivieri, Oliviero, Hamsten, Anders, Clarke, Robert, Reilly, Dermot F., Yin, Wu, Rivas, Manuel A., Donnelly, Peter, Rossouw, Jacques E., Psaty, Bruce M., Herrington, David M., Wilson, James G., Rich, Stephen S., Bamshad, Michael J., Tracy, Russell P., Cupples, L. Adrienne, Rader, Daniel J., Reilly, Muredach P., Spertus, John A., Cresci, Sharon, Hartiala, Jaana, Tang, W.H. Wilson, Hazen, Stanley L., Allayee, Hooman, Reiner, Alex P., Carlson, Christopher S., Kooperberg, Charles, Jackson, Rebecca D., Boerwinkle, Eric, Lander, Eric S., Schwartz, Stephen M., Siscovick, David S., McPherson, Ruth, Tybjaerg-Hansen, Anne, Abecasis, Goncalo R., Watkins, Hugh, Nickerson, Deborah A., Ardissino, Diego, Sunyaev, Shamil R., O’Donnell, Christopher J., Altshuler, David, Gabriel, Stacey, Kathiresan, Sekar
Publicado no Nature (2014)

Association of Low-Frequency and Rare Coding-Sequence Variants with Blood Lipids and Coronary Heart Disease in 56,000 Whites and Blacks

Por Peloso, Gina M., Auer, Paul L., Bis, Joshua C., Voorman, Arend, Morrison, Alanna C., Stitziel, Nathan O., Brody, Jennifer A., Khetarpal, Sumeet A., Crosby, Jacy R., Fornage, Myriam, Isaacs, Aaron, Jakobsdottir, Johanna, Feitosa, Mary F., Davies, Gail, Huffman, Jennifer E., Manichaikul, Ani, Davis, Brian, Lohman, Kurt, Joon, Aron Y., Smith, Albert V., Grove, Megan L., Zanoni, Paolo, Redon, Valeska, Demissie, Serkalem, Lawson, Kim, Peters, Ulrike, Carlson, Christopher, Jackson, Rebecca D., Ryckman, Kelli K., Mackey, Rachel H., Robinson, Jennifer G., Siscovick, David S., Schreiner, Pamela J., Mychaleckyj, Josyf C., Pankow, James S., Hofman, Albert, Uitterlinden, Andre G., Harris, Tamara B., Taylor, Kent D., Stafford, Jeanette M., Reynolds, Lindsay M., Marioni, Riccardo E., Dehghan, Abbas, Franco, Oscar H., Patel, Aniruddh P., Lu, Yingchang, Hindy, George, Gottesman, Omri, Bottinger, Erwin P., Melander, Olle, Orho-Melander, Marju, Loos, Ruth J.F., Duga, Stefano, Merlini, Piera Angelica, Farrall, Martin, Goel, Anuj, Asselta, Rosanna, Girelli, Domenico, Martinelli, Nicola, Shah, Svati H., Kraus, William E., Li, Mingyao, Rader, Daniel J., Reilly, Muredach P., McPherson, Ruth, Watkins, Hugh, Ardissino, Diego, Zhang, Qunyuan, Wang, Judy, Tsai, Michael Y., Taylor, Herman A., Correa, Adolfo, Griswold, Michael E., Lange, Leslie A., Starr, John M., Rudan, Igor, Eiriksdottir, Gudny, Launer, Lenore J., Ordovas, Jose M., Levy, Daniel, Chen, Y.-D. Ida, Reiner, Alexander P., Hayward, Caroline, Polasek, Ozren, Deary, Ian J., Borecki, Ingrid B., Liu, Yongmei, Gudnason, Vilmundur, Wilson, James G., van Duijn, Cornelia M., Kooperberg, Charles, Rich, Stephen S., Psaty, Bruce M., Rotter, Jerome I., O’Donnell, Christopher J., Rice, Kenneth, Boerwinkle, Eric, Kathiresan, Sekar, Cupples, L. Adrienne
Publicado em 2014

Lack of association between the Trp719Arg polymorphism in kinesin-like protein 6 and coronary artery disease in 19 case-control studies

Por Assimes, Themistocles L, Hólm, Hilma, Kathiresan, Sekar, Reilly, Muredach P, Thorleifsson, Gudmar, Voight, Benjamin F, Erdmann, Jeanette, Willenborg, Christina, Vaidya, Dhananjay, Xie, Changchun, Patterson, Chris C, Morgan, Thomas M, Burnett, Mary Susan, Li, Mingyao, Hlatky, Mark A, Knowles, Joshua W, Thompson, John R, Absher, Devin, Iribarren, Carlos, Go, Alan, Fortmann, Stephen P, Sidney, Stephen, Risch, Neil, Tang, Hua, Myers, Richard M, Berger, Klaus, Stoll, Monika, Shah, Svati H., Thorgeirsson, Gudmundur, Andersen, Karl, Havulinna, Aki S, Herrera, J. Enrique, Faraday, Nauder, Kim, Yoonhee, Kral, Brian G., Mathias, Rasika, Ruczinski, Ingo, Suktitipat, Bhoom, Wilson, Alexander F, Yanek, Lisa R., Becker, Lewis C, Linsel-Nitschke, Patrick, Lieb, Wolfgang, König, Inke R, Hengstenberg, Christian, Fischer, Marcus, Stark, Klaus, Reinhard, Wibke, Winogradow, Janina, Grassl, Martina, Grosshennig, Anika, Preuss, Michael, Eifert, Sandra, Schreiber, Stefan, Wichmann, H-Erich, Meisinger, Christa, Yee, Jean, Friedlander, Yechiel, Do, Ron, Meigs, James B, Williams, Gordon, Nathan, David M, MacRae, Calum A, Qu, Liming, Wilensky, Robert L, Matthai, William H., Qasim, Atif N, Hakonarson, Hakon, Pichard, Augusto D, Kent, Kenneth M, Satler, Lowell, Lindsay, Joseph M, Waksman, Ron, Knouff, Christopher W, Waterworth, Dawn M, Walker, Max C, Mooser, Vincent, Marrugat, Jaume, Lucas, Gavin, Subirana, Isaac, Sala, Joan, Ramos, Rafael, Martinelli, Nicola, Olivieri, Oliviero, Trabetti, Elisabetta, Malerba, Giovanni, Pignatti, Pier Franco, Guiducci, Candace, Mirel, Daniel, Parkin, Melissa, Hirschhorn, Joel N, Asselta, Rosanna, Duga, Stefano, Musunuru, Kiran, Daly, Mark J, Purcell, Shaun, Braund, Peter S, Wright, Benjamin J, Balmforth, Anthony J, Ball, Stephen G, Ouwehand, Willem H, Deloukas, Panos, Scholz, Michael, Cambien, Francois, Huge, Andreas, Scheffold, Thomas, Salomaa, Veikko, Girelli, Domenico, Granger, Christopher B., Peltonen, Leena, McKeown, Pascal P, Altshuler, David, Melander, Olle, Devaney, Joseph M, Epstein, Stephen E, Rader, Daniel J, Elosua, Roberto, Engert, James C, Anand, Sonia S, Hall, Alistair S, Ziegler, Andreas, O’Donnell, Christopher J, Spertus, John A, Siscovick, David, Schwartz, Stephen M, Becker, Diane, Thorsteinsdottir, Unnur, Stefansson, Kari, Schunkert, Heribert, Samani, Nilesh J, Quertermous, Thomas
Publicado em 2010

Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease

Por Webb, Thomas R., Erdmann, Jeanette, Stirrups, Kathleen E., Stitziel, Nathan O., Masca, Nicholas G.D., Jansen, Henning, Kanoni, Stavroula, Nelson, Christopher P., Ferrario, Paola G., König, Inke R., Eicher, John D., Johnson, Andrew D., Hamby, Stephen E., Betsholtz, Christer, Ruusalepp, Arno, Franzén, Oscar, Schadt, Eric E., Björkegren, Johan L.M., Weeke, Peter E., Auer, Paul L., Schick, Ursula M., Lu, Yingchang, Zhang, He, Dube, Marie-Pierre, Goel, Anuj, Farrall, Martin, Peloso, Gina M., Won, Hong-Hee, Do, Ron, van Iperen, Erik, Kruppa, Jochen, Mahajan, Anubha, Scott, Robert A., Willenborg, Christina, Braund, Peter S., van Capelleveen, Julian C., Doney, Alex S.F., Donnelly, Louise A., Asselta, Rosanna, Merlini, Pier A., Duga, Stefano, Marziliano, Nicola, Denny, Josh C., Shaffer, Christian, El-Mokhtari, Nour Eddine, Franke, Andre, Heilmann, Stefanie, Hengstenberg, Christian, Hoffmann, Per, Holmen, Oddgeir L., Hveem, Kristian, Jansson, Jan-Håkan, Jöckel, Karl-Heinz, Kessler, Thorsten, Kriebel, Jennifer, Laugwitz, Karl L., Marouli, Eirini, Martinelli, Nicola, McCarthy, Mark I., Van Zuydam, Natalie R., Meisinger, Christa, Esko, Tõnu, Mihailov, Evelin, Escher, Stefan A., Alver, Maris, Moebus, Susanne, Morris, Andrew D., Virtamo, Jarma, Nikpay, Majid, Olivieri, Oliviero, Provost, Sylvie, AlQarawi, Alaa, Robertson, Neil R., Akinsansya, Karen O., Reilly, Dermot F., Vogt, Thomas F., Yin, Wu, Asselbergs, Folkert W., Kooperberg, Charles, Jackson, Rebecca D., Stahl, Eli, Müller-Nurasyid, Martina, Strauch, Konstantin, Varga, Tibor V., Waldenberger, Melanie, Zeng, Lingyao, Chowdhury, Rajiv, Salomaa, Veikko, Ford, Ian, Jukema, J. Wouter, Amouyel, Philippe, Kontto, Jukka, Nordestgaard, Børge G., Ferrières, Jean, Saleheen, Danish, Sattar, Naveed, Surendran, Praveen, Wagner, Aline, Young, Robin, Howson, Joanna M.M., Butterworth, Adam S., Danesh, John, Ardissino, Diego, Bottinger, Erwin P., Erbel, Raimund, Franks, Paul W., Girelli, Domenico, Hall, Alistair S., Hovingh, G. Kees, Kastrati, Adnan, Lieb, Wolfgang, Meitinger, Thomas, Kraus, William E., Shah, Svati H., McPherson, Ruth, Orho-Melander, Marju, Melander, Olle, Metspalu, Andres, Palmer, Colin N.A., Peters, Annette, Rader, Daniel J., Reilly, Muredach P., Loos, Ruth J.F., Reiner, Alex P., Roden, Dan M., Tardif, Jean-Claude, Thompson, John R., Wareham, Nicholas J., Watkins, Hugh, Willer, Cristen J., Samani, Nilesh J., Schunkert, Heribert, Deloukas, Panos, Kathiresan, Sekar
Publicado no J Am Coll Cardiol (2017)