What is at stake in genetic newborn screening for rare diseases? An exploratory qualitative study of parents’ and expectant parents’ concerns in the Screen4Care project

Συγγραφείς: Martin, Sylvia, Ph.D., 1987-, Author, Grauman, Åsa, 1982-, Author, Coulter, Joshua, Author, Hansson, Mats G., 1952-, Author, Ferlini, Alessandra, Author, Fortunato, Fernanda, Author, Ottombrino, Silvia, Author, Raming, Roman, Author, Knieling, Ferdinand, Author, Wachter, Felix, Author, Saier, Christina, Author, Freyler, Kathrin, Author, Veldwijk, Jorien, Author

Συνεισφορές: Martin, Sylvia, Ph.D., 1987-, Author, Grauman, Åsa, 1982-, Author, Coulter, Joshua, Author, Hansson, Mats G., 1952-, Author, Ferlini, Alessandra, Author, Fortunato, Fernanda, Author, Ottombrino, Silvia, Author, Raming, Roman, Author, Knieling, Ferdinand, Author, Wachter, Felix, Author, Saier, Christina, Author, Freyler, Kathrin, Author, Veldwijk, Jorien, Author

Πηγή: Public Health Genomics. 29(1):242-256

Περιγραφή αρχείου: electronic

Σύνδεσμος πρόσβασης: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-595621
https://doi.org/10.1159/000553234

Correlative multimodal imaging for microscale spatial mapping of collagen-gene activity interactions in human tissues

Συγγραφείς: Scodellaro, Riccardo^Aff1, Mietto, Martina^Aff2, Ferlini, Alessandra^Aff2, Alves, Frauke^{Aff1, Aff3, Aff4, IDs44303026001498_cor1}

Πηγή: npj Imaging. 4(1)

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Συγγραφείς: van Rheenen, Wouter, Author, van der Spek, Rick A. A., Author, Bakker, Mark K., Author, van Vugt, Joke J. F. A., Author, Hop, Paul J., Author, Zwamborn, Ramona A. J., Author, de Klein, Niek, Author, Westra, Harm-Jan, Author, Bakker, Olivier B., Author, Deelen, Patrick, Author, Shireby, Gemma, Author, Hannon, Eilis, Author, Moisse, Matthieu, Author, Baird, Denis, Author, Restuadi, Restuadi, Author, Dolzhenko, Egor, Author, Dekker, Annelot M., Author, Gawor, Klara, Author, Westeneng, Henk-Jan, Author, Tazelaar, Gijs H. P., Author, van Eijk, Kristel R., Author, Kooyman, Maarten, Author, Byrne, Ross P., Author, Doherty, Mark, Author, Heverin, Mark, Author, Al Khleifat, Ahmad, Author, Iacoangeli, Alfredo, Author, Shatunov, Aleksey, Author, Ticozzi, Nicola, Author, Cooper-Knock, Johnathan, Author, Smith, Bradley N., Author, Gromicho, Marta, Author, Chandran, Siddharthan, Author, Pal, Suvankar, Author, Morrison, Karen E., Author, Shaw, Pamela J., Author, Hardy, John, Author, Orrell, Richard W., Author, Sendtner, Michael, Author, Meyer, Thomas, Author, Basak, Nazli, Author, van der Kooi, Anneke J., Author, Ratti, Antonia, Author, Fogh, Isabella, Author, Gellera, Cinzia, Author, Lauria, Giuseppe, Author, Corti, Stefania, Author, Cereda, Cristina, Author, Sproviero, Daisy, Author, D'Alfonso, Sandra, Author, Soraru, Gianni, Author, Siciliano, Gabriele, Author, Filosto, Massimiliano, Author, Padovani, Alessandro, Author, Chio, Adriano, Author, Calvo, Andrea, Author, Moglia, Cristina, Author, Brunetti, Maura, Author, Canosa, Antonio, Author, Grassano, Maurizio, Author, Beghi, Ettore, Author, Pupillo, Elisabetta, Author, Logroscino, Giancarlo, Author, Nefussy, Beatrice, Author, Osmanovic, Alma, Author, Nordin, Angelica, Author, Lerner, Yossef, Author, Zabari, Michal, Author, Gotkine, Marc, Author, Baloh, Robert H., Author, Bell, Shaughn, Author, Vourc'h, Patrick, Author, Corcia, Philippe, Author, Couratier, Philippe, Author, Millecamps, Stephanie, Author, Meininger, Vincent, Author, Salachas, Francois, Author, Mora Pardina, Jesus S., Author, Assialioui, Abdelilah, Author, Rojas-Garcia, Ricardo, Author, Dion, Patrick A., Author, Ross, Jay P., Author, Ludolph, Albert C., Author, Weishaupt, Jochen H., Author, Brenner, David, Author, Freischmidt, Axel, Author, Bensimon, Gilbert, Author, Brice, Alexis, Author, Durr, Alexandra, Author, Payan, Christine A. M., Author, Saker-Delye, Safa, Author, Wood, Nicholas W., Author, Topp, Simon, Author, Rademakers, Rosa, Author, Tittmann, Lukas, Author, Lieb, Wolfgang, Author, Franke, Andre, Author, Ripke, Stephan, Author, Braun, Alice, Author, Kraft, Julia, Author, Whiteman, David C., Author, Olsen, Catherine M., Author, Uitterlinden, Andre G., Author, Hofman, Albert, Author, Rietschel, Marcella, Author, Cichon, Sven, Author, Nothen, Markus M., Author, Amouyel, Philippe, Author, Comi, Giancarlo, Author, Riva, Nilo, Author, Lunetta, Christian, Author, Gerardi, Francesca, Author, Cotelli, Maria Sofia, Author, Rinaldi, Fabrizio, Author, Chiveri, Luca, Author, Guaita, Maria Cristina, Author, Perrone, Patrizia, Author, Ceroni, Mauro, Author, Diamanti, Luca, Author, Ferrarese, Carlo, Author, Tremolizzo, Lucio, Author, Delodovici, Maria Luisa, Author, Bono, Giorgio, Author, Manera, Umberto, Author, Vasta, Rosario, Author, Bombaci, Alessandro, Author, Casale, Federico, Author, Fuda, Giuseppe, Author, Salamone, Paolina, Author, Iazzolino, Barbara, Author, Peotta, Laura, Author, Cugnasco, Paolo, Author, De Marco, Giovanni, Author, Torrieri, Maria Claudia, Author, Palumbo, Francesca, Author, Gallone, Salvatore, Author, Barberis, Marco, Author, Sbaiz, Luca, Author, Gentile, Salvatore, Author, Mauro, Alessandro, Author, Mazzini, Letizia, Author, De Marchi, Fabiola, Author, Corrado, Lucia, Author, Bertolotto, Antonio, Author, Gionco, Maurizio, Author, Leotta, Daniela, Author, Odddenino, Enrico, Author, Imperiale, Daniele, Author, Cavallo, Roberto, Author, Pignatta, Pietro, Author, De Mattei, Marco, Author, Geda, Claudio, Author, Papurello, Diego Maria, Author, Gusmaroli, Graziano, Author, Comi, Cristoforo, Author, Labate, Carmelo, Author, Ruiz, Luigi, Author, Ferrandi, Delfina, Author, Rota, Eugenia, Author, Aguggia, Marco, Author, Di Vito, Nicoletta, Author, Meineri, Piero, Author, Ghiglione, Paolo, Author, Launaro, Nicola, Author, Dotta, Michele, Author, Di Sapio, Alessia, Author, Giardini, Guido, Author, Tiloca, Cinzia, Author, Peverelli, Silvia, Author, Taroni, Franco, Author, Pensato, Viviana, Author, Castellotti, Barbara, Author, Comi, Giacomo P., Author, Del Bo, Roberto, Author, Gagliardi, Stella, Author, Raggi, Flavia, Author, Simoncini, Costanza, Author, Lo Gerfo, Annalisa, Author, Inghilleri, Maurizio, Author, Ferlini, Alessandra, Author, Simone, Isabella L., Author, Passarella, Bruno, Author, Guerra, Vito, Author, Zoccolella, Stefano, Author, Nozzoli, Cecilia, Author, Mundi, Ciro, Author, Leone, Maurizio, Author, Zarrelli, Michele, Author, Tamma, Filippo, Author, Valluzzi, Francesco, Author, Calabrese, Gianluigi, Author, Boero, Giovanni, Author, Rini, Augusto, Author, Traynor, Bryan J., Author, Singleton, Andrew B., Author, Mitne Neto, Miguel, Author, Cauchi, Ruben J., Author, Ophoff, Roel A., Author, Wiedau-Pazos, Martina, Author, Lomen-Hoerth, Catherine, Author, van Deerlin, Vivianna M., Author, Grosskreutz, Julian, Author, Roediger, Annekathrin, Author, Gaur, Nayana, Author, Joerk, Alexander, Author, Barthel, Tabea, Author, Theele, Erik, Author, Ilse, Benjamin, Author, Stubendorff, Beatrice, Author, Witte, Otto W., Author, Steinbach, Robert, Author, Huebner, Christian A., Author, Graff, Caroline, Author, Brylev, Lev, Author, Fominykh, Vera, Author, Demeshonok, Vera, Author, Ataulina, Anastasia, Author, Rogelj, Boris, Author, Koritnik, Blaz, Author, Zidar, Janez, Author, Ravnik-Glavac, Metka, Author, Glavac, Damjan, Author, Stevic, Zorica, Author, Drory, Vivian, Author, Povedano, Monica, Author, Blair, Ian P., Author, Kiernan, Matthew C., Author, Benyamin, Beben, Author, Henderson, Robert D., Author, Furlong, Sarah, Author, Mathers, Susan, Author, McCombe, Pamela A., Author, Needham, Merrilee, Author, Ngo, Shyuan T., Author, Nicholson, Garth A., Author, Pamphlett, Roger, Author, Rowe, Dominic B., Author, Steyn, Frederik J., Author, Williams, Kelly L., Author, Mather, Karen A., Author, Sachdev, Perminder S., Author, Henders, Anjali K., Author, Wallace, Leanne, Author, de Carvalho, Mamede, Author, Pinto, Susana, Author, Petri, Susanne, Author, Weber, Markus, Author, Rouleau, Guy A., Author, Silani, Vincenzo, Author, Curtis, Charles J., Author, Breen, Gerome, Author, Glass, Jonathan D., Author, Brown, Robert H., Jr., Author, Landers, John E., Author, Shaw, Christopher E., Author, Andersen, Peter M., 1962-, Author, Groen, Ewout J. N., Author, van Es, Michael A., Author, Pasterkamp, R. Jeroen, Author, Fan, Dongsheng, Author, Garton, Fleur C., Author, McRae, Allan F., Author, Davey Smith, George, Author, Gaunt, Tom R., Author, Eberle, Michael A., Author, Mill, Jonathan, Author, McLaughlin, Russell L., Author, Hardiman, Orla, Author, Kenna, Kevin P., Author, Wray, Naomi R., Author, Tsai, Ellen, Author, Runz, Heiko, Author, Franke, Lude, Author, Al-Chalabi, Ammar, Author, Van Damme, Philip, Author, van den Berg, Leonard H., Author, Veldink, Jan H., Author

Συνεισφορές: van Rheenen, Wouter, Author, van der Spek, Rick A. A., Author, Bakker, Mark K., Author, van Vugt, Joke J. F. A., Author, Hop, Paul J., Author, Zwamborn, Ramona A. J., Author, de Klein, Niek, Author, Westra, Harm-Jan, Author, Bakker, Olivier B., Author, Deelen, Patrick, Author, Shireby, Gemma, Author, Hannon, Eilis, Author, Moisse, Matthieu, Author, Baird, Denis, Author, Restuadi, Restuadi, Author, Dolzhenko, Egor, Author, Dekker, Annelot M., Author, Gawor, Klara, Author, Westeneng, Henk-Jan, Author, Tazelaar, Gijs H. P., Author, van Eijk, Kristel R., Author, Kooyman, Maarten, Author, Byrne, Ross P., Author, Doherty, Mark, Author, Heverin, Mark, Author, Al Khleifat, Ahmad, Author, Iacoangeli, Alfredo, Author, Shatunov, Aleksey, Author, Ticozzi, Nicola, Author, Cooper-Knock, Johnathan, Author, Smith, Bradley N., Author, Gromicho, Marta, Author, Chandran, Siddharthan, Author, Pal, Suvankar, Author, Morrison, Karen E., Author, Shaw, Pamela J., Author, Hardy, John, Author, Orrell, Richard W., Author, Sendtner, Michael, Author, Meyer, Thomas, Author, Basak, Nazli, Author, van der Kooi, Anneke J., Author, Ratti, Antonia, Author, Fogh, Isabella, Author, Gellera, Cinzia, Author, Lauria, Giuseppe, Author, Corti, Stefania, Author, Cereda, Cristina, Author, Sproviero, Daisy, Author, D'Alfonso, Sandra, Author, Soraru, Gianni, Author, Siciliano, Gabriele, Author, Filosto, Massimiliano, Author, Padovani, Alessandro, Author, Chio, Adriano, Author, Calvo, Andrea, Author, Moglia, Cristina, Author, Brunetti, Maura, Author, Canosa, Antonio, Author, Grassano, Maurizio, Author, Beghi, Ettore, Author, Pupillo, Elisabetta, Author, Logroscino, Giancarlo, Author, Nefussy, Beatrice, Author, Osmanovic, Alma, Author, Nordin, Angelica, Author, Lerner, Yossef, Author, Zabari, Michal, Author, Gotkine, Marc, Author, Baloh, Robert H., Author, Bell, Shaughn, Author, Vourc'h, Patrick, Author, Corcia, Philippe, Author, Couratier, Philippe, Author, Millecamps, Stephanie, Author, Meininger, Vincent, Author, Salachas, Francois, Author, Mora Pardina, Jesus S., Author, Assialioui, Abdelilah, Author, Rojas-Garcia, Ricardo, Author, Dion, Patrick A., Author, Ross, Jay P., Author, Ludolph, Albert C., Author, Weishaupt, Jochen H., Author, Brenner, David, Author, Freischmidt, Axel, Author, Bensimon, Gilbert, Author, Brice, Alexis, Author, Durr, Alexandra, Author, Payan, Christine A. M., Author, Saker-Delye, Safa, Author, Wood, Nicholas W., Author, Topp, Simon, Author, Rademakers, Rosa, Author, Tittmann, Lukas, Author, Lieb, Wolfgang, Author, Franke, Andre, Author, Ripke, Stephan, Author, Braun, Alice, Author, Kraft, Julia, Author, Whiteman, David C., Author, Olsen, Catherine M., Author, Uitterlinden, Andre G., Author, Hofman, Albert, Author, Rietschel, Marcella, Author, Cichon, Sven, Author, Nothen, Markus M., Author, Amouyel, Philippe, Author, Comi, Giancarlo, Author, Riva, Nilo, Author, Lunetta, Christian, Author, Gerardi, Francesca, Author, Cotelli, Maria Sofia, Author, Rinaldi, Fabrizio, Author, Chiveri, Luca, Author, Guaita, Maria Cristina, Author, Perrone, Patrizia, Author, Ceroni, Mauro, Author, Diamanti, Luca, Author, Ferrarese, Carlo, Author, Tremolizzo, Lucio, Author, Delodovici, Maria Luisa, Author, Bono, Giorgio, Author, Manera, Umberto, Author, Vasta, Rosario, Author, Bombaci, Alessandro, Author, Casale, Federico, Author, Fuda, Giuseppe, Author, Salamone, Paolina, Author, Iazzolino, Barbara, Author, Peotta, Laura, Author, Cugnasco, Paolo, Author, De Marco, Giovanni, Author, Torrieri, Maria Claudia, Author, Palumbo, Francesca, Author, Gallone, Salvatore, Author, Barberis, Marco, Author, Sbaiz, Luca, Author, Gentile, Salvatore, Author, Mauro, Alessandro, Author, Mazzini, Letizia, Author, De Marchi, Fabiola, Author, Corrado, Lucia, Author, Bertolotto, Antonio, Author, Gionco, Maurizio, Author, Leotta, Daniela, Author, Odddenino, Enrico, Author, Imperiale, Daniele, Author, Cavallo, Roberto, Author, Pignatta, Pietro, Author, De Mattei, Marco, Author, Geda, Claudio, Author, Papurello, Diego Maria, Author, Gusmaroli, Graziano, Author, Comi, Cristoforo, Author, Labate, Carmelo, Author, Ruiz, Luigi, Author, Ferrandi, Delfina, Author, Rota, Eugenia, Author, Aguggia, Marco, Author, Di Vito, Nicoletta, Author, Meineri, Piero, Author, Ghiglione, Paolo, Author, Launaro, Nicola, Author, Dotta, Michele, Author, Di Sapio, Alessia, Author, Giardini, Guido, Author, Tiloca, Cinzia, Author, Peverelli, Silvia, Author, Taroni, Franco, Author, Pensato, Viviana, Author, Castellotti, Barbara, Author, Comi, Giacomo P., Author, Del Bo, Roberto, Author, Gagliardi, Stella, Author, Raggi, Flavia, Author, Simoncini, Costanza, Author, Lo Gerfo, Annalisa, Author, Inghilleri, Maurizio, Author, Ferlini, Alessandra, Author, Simone, Isabella L., Author, Passarella, Bruno, Author, Guerra, Vito, Author, Zoccolella, Stefano, Author, Nozzoli, Cecilia, Author, Mundi, Ciro, Author, Leone, Maurizio, Author, Zarrelli, Michele, Author, Tamma, Filippo, Author, Valluzzi, Francesco, Author, Calabrese, Gianluigi, Author, Boero, Giovanni, Author, Rini, Augusto, Author, Traynor, Bryan J., Author, Singleton, Andrew B., Author, Mitne Neto, Miguel, Author, Cauchi, Ruben J., Author, Ophoff, Roel A., Author, Wiedau-Pazos, Martina, Author, Lomen-Hoerth, Catherine, Author, van Deerlin, Vivianna M., Author, Grosskreutz, Julian, Author, Roediger, Annekathrin, Author, Gaur, Nayana, Author, Joerk, Alexander, Author, Barthel, Tabea, Author, Theele, Erik, Author, Ilse, Benjamin, Author, Stubendorff, Beatrice, Author, Witte, Otto W., Author, Steinbach, Robert, Author, Huebner, Christian A., Author, Graff, Caroline, Author, Brylev, Lev, Author, Fominykh, Vera, Author, Demeshonok, Vera, Author, Ataulina, Anastasia, Author, Rogelj, Boris, Author, Koritnik, Blaz, Author, Zidar, Janez, Author, Ravnik-Glavac, Metka, Author, Glavac, Damjan, Author, Stevic, Zorica, Author, Drory, Vivian, Author, Povedano, Monica, Author, Blair, Ian P., Author, Kiernan, Matthew C., Author, Benyamin, Beben, Author, Henderson, Robert D., Author, Furlong, Sarah, Author, Mathers, Susan, Author, McCombe, Pamela A., Author, Needham, Merrilee, Author, Ngo, Shyuan T., Author, Nicholson, Garth A., Author, Pamphlett, Roger, Author, Rowe, Dominic B., Author, Steyn, Frederik J., Author, Williams, Kelly L., Author, Mather, Karen A., Author, Sachdev, Perminder S., Author, Henders, Anjali K., Author, Wallace, Leanne, Author, de Carvalho, Mamede, Author, Pinto, Susana, Author, Petri, Susanne, Author, Weber, Markus, Author, Rouleau, Guy A., Author, Silani, Vincenzo, Author, Curtis, Charles J., Author, Breen, Gerome, Author, Glass, Jonathan D., Author, Brown, Robert H., Jr., Author, Landers, John E., Author, Shaw, Christopher E., Author, Andersen, Peter M., 1962-, Author, Groen, Ewout J. N., Author, van Es, Michael A., Author, Pasterkamp, R. Jeroen, Author, Fan, Dongsheng, Author, Garton, Fleur C., Author, McRae, Allan F., Author, Davey Smith, George, Author, Gaunt, Tom R., Author, Eberle, Michael A., Author, Mill, Jonathan, Author, McLaughlin, Russell L., Author, Hardiman, Orla, Author, Kenna, Kevin P., Author, Wray, Naomi R., Author, Tsai, Ellen, Author, Runz, Heiko, Author, Franke, Lude, Author, Al-Chalabi, Ammar, Author, Van Damme, Philip, Author, van den Berg, Leonard H., Author, Veldink, Jan H., Author

Πηγή: Nature Genetics. 53(12):1636-1648

Περιγραφή αρχείου: electronic

Σύνδεσμος πρόσβασης: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-191609
https://doi.org/10.1038/s41588-021-00973-1

Patient preferences in genetic newborn screening for rare diseases: study protocol

Συγγραφείς: Martin, Sylvia, Author, Angolini, Emanuele, Author, Audi, Jennifer, Author, Bertini, Enrico, Author, Bruno, Lucia Pia, Author, Coulter, Joshua, Author, Ferlini, Alessandra, Author, Fortunato, Fernanda, Author, Frankova, Vera, Author, Garnier, Nicolas, Author, Grauman, Åsa, 1982-, Author, Gross, Edith, Author, Hauber, Brett, Author, Hansson, Mats, 1952-, Author, Kirschner, Janbernd, Author, Knieling, Ferdinand, Author, Kyosovksa, Gergana, Author, Ottombrino, Silvia, Author, Novelli, Antonio, Author, Raming, Roman, Author, Sansen, Stefaan, Author, Saier, Christina, Author, Veldwijk, Jorien, Author

Συνεισφορές: Martin, Sylvia, Author, Angolini, Emanuele, Author, Audi, Jennifer, Author, Bertini, Enrico, Author, Bruno, Lucia Pia, Author, Coulter, Joshua, Author, Ferlini, Alessandra, Author, Fortunato, Fernanda, Author, Frankova, Vera, Author, Garnier, Nicolas, Author, Grauman, Åsa, 1982-, Author, Gross, Edith, Author, Hauber, Brett, Author, Hansson, Mats, 1952-, Author, Kirschner, Janbernd, Author, Knieling, Ferdinand, Author, Kyosovksa, Gergana, Author, Ottombrino, Silvia, Author, Novelli, Antonio, Author, Raming, Roman, Author, Sansen, Stefaan, Author, Saier, Christina, Author, Veldwijk, Jorien, Author

Πηγή: BMJ Open. 14(4)

Θεματικοί όροι: GENETICS, Patient Participation, Patient Reported Outcome Measures, Patient-Centered Care, QUALITATIVE RESEARCH, Pediatrics, Pediatrik, Health Care Research, Hälso- och sjukvårdsforskning

Περιγραφή αρχείου: electronic

Σύνδεσμος πρόσβασης: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-527432
https://doi.org/10.1136/bmjopen-2023-081835

O48: International Consortium on Newborn Sequencing (ICoNS) consensus guidelines for gene selection in genomic newborn screening programs

Συγγραφείς: Gold, Nina, Yeo, Julie, Ansel, Derek, Baker, Mei, Balciuniene, Jorune, Berg, Jonathan, Boemer, François, Chung, Wendy, Cope, Heidi, Eckstein, David, Encina, Nicolas, Faivre, Laurence, Ferlini, Alessandra, Garcia-Villoria, Judit, Gelb, Michael, Gonzalez De Aledo Castillo, Jose Manuel, Golden-Grant, Katie, Minten, Thomas, Parad, Richard, Shah, Nidhi, Stark, Zornitza, Sund, Kristen, Tsipouras, Petros, To, Meekai, Downie, Lilian

Πηγή: Genetics in Medicine Open, 3, 102421 (2025); ACMG, 18-22/03/2025

Θεματικοί όροι: Human health sciences, Pediatrics, Sciences de la santé humaine, Pédiatrie

Relation: https://api.elsevier.com/content/article/PII:S2949774425004601?httpAccept=text/xml; urn:issn:2949-7744

Σύνδεσμος πρόσβασης: https://orbi.uliege.be/handle/2268/335326

Chapter Biomarkers in Rare Genetic Diseases

Συγγραφείς: Ferlini, Alessandra, Scotton, C.

Θεματικοί όροι: bone regeneration, bioinspired materials, biomineralization, biomorphic transformation, magnetic activation, bic Book Industry Communication::M Medicine::MN Surgery::MNS Orthopaedics & fractures

Περιγραφή αρχείου: application/pdf

Σύνδεσμος πρόσβασης: https://library.oapen.org/handle/20.500.12657/49146

A Proof of Principle Proteomic Study Detects Dystrophin in Human Plasma: Implications in DMD Diagnosis and Clinical Monitoring

Συγγραφείς: Rossi, Rachele, Author, Johansson, Camilla, Author, Heywood, Wendy, Author, Vinette, Heloise, Author, Jensen, Gabriella, Author, Tegel, Hanna, Author, Jimenez-Requena, Albert, Author, Torelli, Silvia, Author, Al-Khalili Szigyarto, Cristina, Author, Ferlini, Alessandra, Author

Συνεισφορές: Rossi, Rachele, Author, Johansson, Camilla, Author, Heywood, Wendy, Author, Vinette, Heloise, Author, Jensen, Gabriella, Author, Tegel, Hanna, Author, Jimenez-Requena, Albert, Author, Torelli, Silvia, Author, Al-Khalili Szigyarto, Cristina, Author, Ferlini, Alessandra, Author

Πηγή: International Journal of Molecular Sciences. 24(6)

Θεματικοί όροι: DMD, dystrophin protein, plasma assay, immunoassay, LC-MS, MS

Περιγραφή αρχείου: print

Σύνδεσμος πρόσβασης: https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-326053
https://doi.org/10.3390/ijms24065215

Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe

Συγγραφείς: Garnier, Nicolas, Author, Berghout, Joanne, Author, Zygmunt, Aldona, Author, Singh, Deependra, Author, Huang, Kui A., Author, Kantz, Waltraud, Author, Blankart, Carl Rudolf, Author, Gillner, Sandra, Author, Zhao, Jiawei, Author, Roettger, Richard, Author, Saier, Christina, Author, Kirschner, Jan, Author, Schenk, Joern, Author, Atkins, Leon, Author, Ryan, Nuala, Author, Zarakowska, Kaja, Author, Zschuentzsch, Jana, Author, Zuccolo, Michela, Author, Muellenborn, Matthias, Author, Man, Yuen-Sum, Author, Goodman, Liz, Author, Trad, Marie, Author, Chalandon, Anne Sophie, Author, Sansen, Stefaan, Author, Martinez-Fresno, Maria, Author, Badger, Shirlene, Author, Walther van Olden, Rudolf, Author, Rothmann, Robert, Author, Lehner, Patrick, Author, Tschohl, Christof, Author, Baillon, Ludovic, Author, Gumus, Gulcin, Author, Gross, Edith, Author, Stefanov, Rumen, Author, Iskrov, Georgi, Author, Raycheva, Ralitsa, Author, Kostadinov, Kostadin, Author, Mitova, Elena, Author, Einhorn, Moshe, Author, Einhorn, Yaron, Author, Schepers, Josef, Author, Huebner, Miriam, Author, Alves, Frauke, Author, Iskandar, Rowan, Author, Mayer, Rudolf, Author, Renieri, Alessandra, Author, Piperkova, Aneta, Author, Gut, Ivo, Author, Beltran, Sergi, Author, Matthiesen, Mads Emil, Author, Poetz, Marion, Author, Hansson, Mats G., 1952-, Author, Trollmann, Regina, Author, Agolini, Emanuele, Author, Ottombrino, Silvia, Author, Novelli, Antonio, Author, Bertini, Enrico, Author, Selvatici, Rita, Author, Farne, Marianna, Author, Fortunato, Fernanda, Author, Ferlini, Alessandra, Author

Συνεισφορές: Garnier, Nicolas, Author, Berghout, Joanne, Author, Zygmunt, Aldona, Author, Singh, Deependra, Author, Huang, Kui A., Author, Kantz, Waltraud, Author, Blankart, Carl Rudolf, Author, Gillner, Sandra, Author, Zhao, Jiawei, Author, Roettger, Richard, Author, Saier, Christina, Author, Kirschner, Jan, Author, Schenk, Joern, Author, Atkins, Leon, Author, Ryan, Nuala, Author, Zarakowska, Kaja, Author, Zschuentzsch, Jana, Author, Zuccolo, Michela, Author, Muellenborn, Matthias, Author, Man, Yuen-Sum, Author, Goodman, Liz, Author, Trad, Marie, Author, Chalandon, Anne Sophie, Author, Sansen, Stefaan, Author, Martinez-Fresno, Maria, Author, Badger, Shirlene, Author, Walther van Olden, Rudolf, Author, Rothmann, Robert, Author, Lehner, Patrick, Author, Tschohl, Christof, Author, Baillon, Ludovic, Author, Gumus, Gulcin, Author, Gross, Edith, Author, Stefanov, Rumen, Author, Iskrov, Georgi, Author, Raycheva, Ralitsa, Author, Kostadinov, Kostadin, Author, Mitova, Elena, Author, Einhorn, Moshe, Author, Einhorn, Yaron, Author, Schepers, Josef, Author, Huebner, Miriam, Author, Alves, Frauke, Author, Iskandar, Rowan, Author, Mayer, Rudolf, Author, Renieri, Alessandra, Author, Piperkova, Aneta, Author, Gut, Ivo, Author, Beltran, Sergi, Author, Matthiesen, Mads Emil, Author, Poetz, Marion, Author, Hansson, Mats G., 1952-, Author, Trollmann, Regina, Author, Agolini, Emanuele, Author, Ottombrino, Silvia, Author, Novelli, Antonio, Author, Bertini, Enrico, Author, Selvatici, Rita, Author, Farne, Marianna, Author, Fortunato, Fernanda, Author, Ferlini, Alessandra, Author

Πηγή: PLOS ONE. 18(11)

Περιγραφή αρχείου: electronic

Σύνδεσμος πρόσβασης: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-521890
https://doi.org/10.1371/journal.pone.0293503

The burden of TTN variants in the genomic era: Analysis of 18,462 individuals from the Solve-RD consortium and general recommendations

Συγγραφείς: Jackson, Adam, Verloes, Alain, Corvo, Alberto, Ferlini, Alessandra, Costa, Alessia, Hoischen, Alexander, Durr, Alexandra, Krebsová, Alice, Metcalfe, Alison, Rath, Ana, Töpf, Ana, Papakonstantinou, Anastasios, Traschütz, Andreas, Bruel, Ange-Line, Codina, Anna Esteve, Heinzmann, Anna, Sommer, Anna Katharina, Sarkozy, Anna, Torella, Annalaura, Denommé-Pichon, Anne-Sophie, Brookes, Anthony J., Atalaia, Antonio, Vitobello, Antonio, Resch, Baptist, van de Warrenburg, Bart, van der Sanden, Bart, Zurek, Birte, Keren, Boris, Eymard, Bruno, Yaldiz, Burcu, Oliveira, Carla, Hernández, Carles, Wilke, Carlo, Lucano, Caterina, José, Celina São, Millevert, Charissa, Bettolo, Chiara Marini, Thauvin, Christel, Boßelmann, Christian, Gilissen, Christian, Davoine, Claire-Sophie, Thomas, Coline, Metay, Corinne, Mignot, Cyril, Thomasová, Dana, Danis, Daniel, Picó, Daniel, Beijer, Danique, Lagorce, David, Ruvolo, David, Piscia, Davide, Sukumaran, Deepthi, Heron, Delphine, Roelofs-Prins, Dieuwke, Spalding, Dylan, Cali, Elisa, Alexander, Elizabeth, de Boer, Elke, Raineri, Emanuele, Lebreton, Emeline, Cohen, Enzo, Janssen, Erik, Kamsteeg, Erik-Jan, Zonneveld-Huijssoon, Eveline, Carneiro, Fátima, Gualandi, Francesca, Magrinelli, Francesca, Muntoni, Francesco, de Vries, Geert, Bullich, Gemma, van der Vries, Gerben, Demidov, German, Stevanin, Giovanni, Bonne, Gisèle, Coarelli, Giulia, Piluso, Giulio, Robert, Glenn, Warren, Greg, Gumus, Gulcin, Brunner, Han, Stamberger, Hannah, Scheffer, Hans, Morsy, Heba, Parkinson, Helen, Houlden, Henry, Hengel, Holger, Lerche, Holger, Graessner, Holm, Paramonov, Ida, Kolen, Ingrid, Gullo, Irene, Zaharieva, Irina, Paske, Iris te, Spier, Isabel, Nelson, Isabelle, Gut, Ivo Glynne, Vandrovcova, Jana, Agathe, Jean-Madeleine de Sainte, Clayton-Smith, Jill, Xu, Jishu, van der Velde, Joeri K., Baets, Jonathan, De Winter, Jonathan, Rohrer, Jonathan, Park, Joohyun, Manera, Jordi Diaz, Garcia-Pelaez, Jose, Kegele, Josua, Schulze-Hentrich, Julia M., Müller, Juliane, Engelhardt, Karin, Sablauskas, Karolis, Ellwanger, Kornelia, Neveling, Kornelia, Abbott, Kristin M., Faivre, Laurence, Guillot-Noel, Léna, Johansson, Lennart, Schütz, Leon, Matalonga, Leslie, Van de Vondel, Liedewei, Vissers, Lisenka E.L.M., Schöls, Ludger, Ryba, Lukáš, Perry, Luke, Garrido, Luzia, Sagath, Lydia, Freeberg, Mallory, Morleo, Manuela, Dabad, Marc, Hanauer, Marc, Sturm, Marc, Neri, Marcella, Fernandez-Callejo, Marcos, Turnovec, Marek, Zanobio, Mariateresa, van Gijn, Marielle, Havlovicová, Markéta, Steehouwer, Marloes, Chahdil, Maroua, Ferreira, Marta, Gut, Marta, Reilly, Mary, Synofzik, Matthis, Kellner, Melanie, Pinelli, Michele, Hanna, Mike, Macek, Milan, Jr., Swertz, Morris A., Hoogerbrugge, Nicoline, van Os, Nienke, Smal, Noor, Riess, Olaf, Hongnat, Oscar, Moloney, Patrick, Doležalová, Pavla, Ferreira, Pedro, ’t Hoen, Peter A.C., de Jonghe, Peter, Heutink, Peter, Robinson, Peter, Lišková, Petra, Neerincx, Pieter B., Ben Yaou, Rabah, Kremliková, Radka Pourová, Bellampalli, Ravishankara, Schüle, Rebecca, Moore, Richard, de Voer, Richarda M., Barbosa-Matos, Rita, Selvatici, Rita, Lauerer-Braun, Robert, Zeuli, Roberta, Abadijou, Sadegh, Nalagandla, Sai Anuhya, Banfi, Sandro, Sisodiya, Sanjay M., Weckhuysen, Sarah, Köhler, Sebastian, Beltran, Sergi, Drunat, Séverine, Banka, Siddharth, Peters, Sophia, Hambleton, Sophie, Gibson, Spencer, Aretz, Stefan, Bigoni, Stefania, Lauxmann, Stephan, Ossowski, Stephan, Efthymiou, Stephanie, Laurie, Steven, Fernandes, Susana, Stojkovic, Tanya, Evangelista, Teresinha, Keane, Thomas, Kleefstra, Tjitske, Haack, Tobias B., Riaz, Umar, Allamand, Valérie, Franková, Vera, Pini, Veronica, Couturier, Victor, Timmerman, Vincent, Nigro, Vincenzo, Bros-Facer, Virginie, Straub, Volker, Kerstjens Frederikse, Wilhemina S., De Ridder, Willem, Steyaert, Wouter, Duffourd, Yannis, Wang, Yunze Patrick, Maver, Ales, Renieri, Alessandra, Münchau, Alexander, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Ciolfi, Andrea, Laner, Andreas, Roos, Andreas, Rump, Andreas, Garcia de Oteyza, Andrés Caballero, Osorio, Andrés Nascimento, Marcé-Grau, Anna, Destrée, Anne, Riva, Antonella, Evangeliou, Athanasios, Trimouille, Aurelien, Başak, Ayşe Nazlı, Dermaut, Bart, Delgado, Beatriz Martínez, Pérez-Dueñas, Belén, Estevez, Berta, Udd, Bjarne, Grimbacher, Bodo, Peterlin, Borut, Poppe, Bruce, Wirth, Brunhilde, Dallapiccola, Bruno, Rooryck, Caroline, Olimpio, Catarina, Depondt, Chantal, Fallerini, Chiara, Depienne, Christel, Korff, Christian, Mertes, Christian, Ruivenkamp, Claudia A.L., Meunier, Colombine, Lederer, Damien, Natera de Benito, Daniel, Beeson, David, Webb, David, Mei, Davide, Karadurmus, Deniz, Lacombe, Didier, Hemelsoet, Dimitri, Parrini, Elena, Kapaki, Elisabeth, Bogaert, Elke, Holinski-Feder, Elke, Leitão, Elsa, Bijlsma, Emilia K., Van Nieuwenhove, Erika, Martín, Estrella López, Sánchez, Eva Bermejo, Bouveret, Eva Hammar, Schröck, Evelin, Carpancea, Evelina, Kokosali, Evgenia, Zara, Federico, Privitera, Flavia, Radio, Francesca Clementina, Munell, Francina, Alonso García de la Rosa, Francisco Javier, Masclaux, Frédéric, Capella, Gabriel, Cavalleri, Gianpiero, Santen, Gijs W.E., Ghani, Hamidah, Verdin, Hannah, Lochmüller, Hanns, Leavis, Helen, Zaganas, Ioannis, Cordts, Isabell, Maystadt, Isabelle, van Montfrans, Joris, Cossins, Judith, Desir, Julie, Gagneur, Julien, Boztug, Kaan, Dahan, Karin, Benson, Katherine, Schon, Katherine, Lohmann, Katja, Polavarapu, Kiran, Platzer, Konrad, Zguro, Kristina, Claeys, Kristl, Mathioudakis, Lambros, van der Veken, Lars, Masó, Laura Batlle, Valle, Laura, Krass, Leon, Huibers, Manon, De la Paz, Manuel Posada, Bourbouli, Mara, Abramowicz, Marc, Scala, Marcello, Ferilli, Marco, Savarese, Marco, Tartaglia, Marco, Deschauer, Marcus, Molnar, Maria Judit, Cilio, Maria-Roberta, Greally, Marie, Hoffer, Mariette J.V., Spilioti, Martha, Pauly, Martje, O'Reghan, Mary, Haimel, Matthias, Karakaya, Mert, Iacomino, Michele, Drakos, Minas, Johari, Mridul, Allen, Nicholas, Schuermans, Nika, Delanty, Norman, Monestier, Olivier, Kiliçarslan, Özge Aksel, Scudieri, Paolo, Uva, Paolo, Striano, Pasquale, Chinnery, Patrick F., May, Patrick, Balicza, Peter, Hackman, Peter, Thompson, Rachel, Jamra, Rami Abou, Herzog, Rebecca, Luknárová, Rebeka, Guerrini, Renzo, Horvath, Rita, Colobran, Roger, van Heurck, Roxane, Mary, Sandrine, Duerinckx, Sarah, Balestrini, Simona, Furini, Simone, Malaichamy, Sivasankar, Moortgat, Stéphanie, Byrne, Susan, Brohée, Sylvain, Ratnaike, Thiloka, Bartolomaeus, Tobias, Benoit, Valerie, Steinke-Lange, Verena, Yépez, Vicente A., Sznajer, Yves, Di Feo, Maria Francesca ^{1, 2, ∗}, Matalonga Borrel, Leslie ^{3, 4}, Vissers, Lisenka ^{6, 11}, de Voer, Richarda ^{6, 12}, Lesca, Gaëtan ^{17, 18}, Gayathri, Swethaa Natraj ², Cossee, Mireille ^{19, 20}, Perrin, Aurelien ^{19, 20}, Bonne, Gisele ²³, Verdonschot, Job A.J. ^{24, 25}

Πηγή: In Genetics in Medicine June 2026 28(6)

Economic evaluation of next-generation sequencing technologies in pediatric patient groups with confirmed or possible rare diseases: A systematic literature review

Συγγραφείς: De Stefano, Marianna ^{1, 2}, van Olden, Rudolf ³, Arjmand, Elnaz ^{1, 2}, Nam, Julian ⁴, de Fries Jensen, Lasse ⁵, Schäfer, Birgit ⁶, Kirschner, Janbernd ⁷, Ferlini, Alessandra ⁸, Blankart, Carl Rudolf ^{1, 2}, Cassidy, Rachel ^{1, 2, ∗}

Πηγή: In Genetics in Medicine February 2026 28(2)

The most bothersome symptoms in neuromuscular diseases: the ERN EURO NMD Survey

Συγγραφείς: Mancuso, Michelangelo^{Aff1, Aff2, IDs1302302503742z_cor1}, Colitta, Alessandro^Aff1, Lavorato, Manuela^Aff2, Van den Bergh, Peter^Aff3, Kirschner, Janbernd^Aff4, Kornblum, Cornelia^Aff5, Maggi, Lorenzo^Aff6, Lamy, Francois^Aff7, Lochmüller, Hanns^{Aff4, Aff8, Aff9}, Nordstrøm, Marianne^{Aff10, Aff11}, Malfatti, Edoardo^Aff12, Ferlini, Alessandra^Aff13, Pareyson, Davide^Aff14, Silani, Vincenzo^{Aff15, Aff16}, Kleopa, Kleopas A^Aff17, de Visser, Marianne^Aff18, Atalaia, Antonio^Aff19, Evangelista, Teresinha^Aff20

Πηγή: Orphanet Journal of Rare Diseases. 20(1)

TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project

Συγγραφείς: Saier, Christina^{Aff1, Aff2}, Sansen, Stefaan^Aff3, Berghout, Joanne^Aff4, Freyler, Kathrin^Aff1, Einhorn, Moshe^Aff5, Einhorn, Yaron^Aff5, Matalonga, Leslie^Aff6, Beltran, Sergi^Aff6, Novelli, Antonio^Aff7, Selvatici, Rita^Aff8, Fortunato, Fernanda^Aff9, Montanari, Silvia^Aff9, Martinez-Fresno, Maria^Aff10, Gumus, Gulcin^Aff11, Agolini, Emanuele^Aff7, Garnier, Nicolas^{Aff4, Aff13}, Ferlini, Alessandra^Aff9, Bertini, Enrico^Aff12, Kirschner, Janbernd^{Aff1, IDs13023025036926_cor1}

Πηγή: Orphanet Journal of Rare Diseases. 20(1)

Variants in TREX complex subunits (THOC2, ALYREF, THOC6, THOC7) define a neurodevelopmental disability spectrum

Συγγραφείς: Kumar, Raman, Gardner, Alison, Bhattacharjee, Rudrarup, Agarwala, Shreya, van Eyk, Clare L., Corbett, Mark A., Carroll, Renee, Kroes, Thessa, Ritchie, Tarin, de Nys, Rebekah, Mazurkiewicz, Danielle, Bing, Wu, Palmer, Elizabeth E., Field, Michael, Verseput, Jolijn J.A., de Vries, Bert B.A., Dingemans, Alexander J.M., Zhang, Qi, Li, Fuyi, Bernier, Francois, Lauzon, Julie, Śmigiel, Robert, Ortigoza-Escobar, Juan Darío, García-Cazorla, Angeles, Darling, Alejandra, Boerkoel, Cornelius F., Huynh, Stephanie, Costain, Gregory, van Ham, Tjakko J., Kasteleijn, Esmee, van Slegtenhorst, Marjon, Barakat, Tahsin Stefan, Elgersma, Ype, van Ierland, Yvette, Veenma, Danielle, Azmanov, Dimitar, Weisman, Allison Goetsch, Prada, Carlos E., Parkash, Sandhya, Rideout, Andrea L., Kerstjens-Frederikse, W.S., Vengoechea, Jaime, Schoene-Bake, Jan-Christoph, Devillard, Francoise, van der Smagt, Jasper, Giesbertz, Noor A.A., Fry, Andrew E., Jezkova, Jana, Kampmeier, Antje, Kuechler, Alma, Grasshoff, Ute, Bertrand, Miriam, Hickey, Scott E., Hunter, Jesse M., Marr, Mackenzie V., Dupont, Juliette, Bigoni, Stefania, Ferlini, Alessandra, Selvatici, Rita, Chatron, Nicolas, Lesca, Gaetan, Januel, Louis, Rossi, Massimiliano, Rogers, Curtis, Davis, Jessica M., McKenzie, Fiona, Marbach, Felix, Gieldon, Laura, Schmidt, Wolfgang M., Paquay, Amina, Bittner, Reginald E., Mahal, Simone, Bernert, Günther, Sinnerbrink, Ingrid, Goodwin, Linda, Cooper, Sandra, Bannink, Natalja, Jolly, Lachlan A., McGaughran, Julie, Bosman, Alexis, Hernan, Rebecca, Chung, Wendy K., Valenzuela, Irene, Cuscó, Ivon, Schlüter, Agatha, Pujol, Aurora, Pérez-Jurado, Luis Alberto, Gecz, Jozef

Πηγή: In Genetics in Medicine September 2026

Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing

Συγγραφείς: Adelson, Sophia, Agolini, Emanuele, Al-Maraghi, Aljazi, Alex, Karla, Alkuraya, Fowzan, Akil, Ammira Alshabeeb, Alshehri, Munira, Ansel, Derek, Armstrong, Niki, Aujla, Matthew, Bailey, Don, Baker, Mei, Balciuniene, Jorune, Barry, Andrew, Bennetts, Bruce, Berenger, Melissa, Berg, Jonathan, Bernstein, Donna, Bhatatcharjee, Arindam, Bhatt, Sucheta, Bick, David, Bishop, Tracey, Bitton, Asaf, Boemer, François, Bonhomme, Natasha, Bowley, George, Boyd, Brenna, Brennenstuhl, Heiko, Brenner, Steven, Bresnahan, Mairead, Brewster, Thomas, Brooks, P.J., Broomberg, Katya, Brower, Amy, Gentile, Mattia, Giordano, Jessica, Jensen, Ulrich Glumer, Godler, David, Gold, Nina, Goldenberg, Aaron, GoldenGrant, Katie, Goldman, Cassie, González de Aledo-Castillo, José Manuel, Gottlieb, Daniel, Green, Robert, Greene, Christopher, Greenstein, Brooke, Grosse, Scott, Grueters, Annette, Gumus, Gulcin, Hagman, Kelly, Hall, Kevin, Harmant, Aymeric, Hartmanis, Sally, Hayeems, Robin, Heald, Rose, Hegde, Madhuri, Heiner-Fokkema, Rebecca, Henneman, Lidewij, Hernan, Becca, Hobbs, Charlotte, Holm, Ingrid, Horwitz, Layla, Hu, Zhanzhi, Iascone, Maria, Irvine, Ken, Jin, Guanjun, Kalbfleisch, Kelsey, Nyegaard, Mette, O'Sullivan, Justin, Ojodu, Jelili, Orsini, Paola, Oza, Andrea, Paleologos, Katrina, Parad, Richard, Peay, Holly, Pelo, Matthew, Philstrom, Carolyn, Pichard, Dominique, Pichini, Amanda, Pirreca, Michelle, Ponikowska, Malgorzata, Ponte, Amy, Posch, Andreas, Powell, Cynthia, Protopsaltis, Liana, Quevedo, Yeyson, Raia, Marianna, Reimer, Rebecca, Rohrwasser, Andy, Rollier, Paul, Rottensten, Lene, Rtskhiladze, Irakli, Sachedina, Nabihah, Sahyoun, George, Satija, Aditi, Schaaf, Christian, Schleit, Jennifer, Scott, Richard, Scully, Lauren, Seeloff, Stacey, Brown, Gemma, Buchanan, James, Bupp, Caleb, Cameron, Candance, Capacchione, Lauren, Carli, Diana, Ceballo, Onassis Castillo, Chan, Kee, Chance, Jillian, Charalambidou, Georgia, Chen, Winnie, Chen, Yun-Ru, Chung, Wendy, Chung, Brian, Clarke, Megan, Clasper, Susan, Cole, F. Sessions, Cope, Heidi, Coury, Stephanie, Cox, Tony, Dangouloff, Tamara, Paul Daniel, Earnest James, Danielsen, Katrin Eivindardottir, Davoine, Emeline, Defay, Tom, Gandhi, Geethanjali Devadoss, Dewulf, Joseph, Diller, Lisa, Dixit, Pakhi, Dolle, Martijn, Downie, Lilian, Drake, Erin, Drury, Suzanne, Duintjer, Annelotte, Duz, Bugrahan, Eckstein, David, Ellinwood, Matthew, Kander, Ines, Kaplun, Lucy, Kasperaviciute, Dalia, Kassahn, Karin, Kauko, Leni, Kaukonen, Riina, Kelly, Nicole, Khangsar, Dhayo, King, Jovanka, Kingsley, Clare, Kingsmore, Stephen, Kirms, Brian, Klein, Rachel, Koelker, Stefan, Kousa, Youssef, Krupoderova, Elizaveta, Kruszka, Paul, Langley, Katherine, Leckie, Ciara, Lecommandeur, Emmanuelle, Ledbetter, David, Lee, Pamela, Lee, Beomhee, Leve, Camille, Lewis, Celine, Lewis, Anna, Liu, Ruby, Longon, Mauro, Lundquist, Alberte, Lunke, Sebastian, MacDuffie, Kate, Malhotra, Ankit, Marcelis, Lionel, Martinez-Fresno, Maria, Matthijs, Gert, Melbardis, Roberts, Merritt, Jessica, Servais, Laurent, Shah, Nidhi, Siitonen, Maija, Singh, Sikha, Siu, Carol, Smith, Hadley, King, Lisa Sniderman, Sondheimer, Neal, St George, Lourdes, Stark, Zornitza, Steiner, Robert, Stoltze, Ulrik, Stray-Pedersen, Asbjørg, Sund, Kristen, Tafas, Paris, Teekakirikul, Polakit, Thanos, Dimitrios, Thurm, Audrey, To, Meekai, Tsipouras, Petros, Tuff-Lacey, Alice, Turner, Heather, Twiss, Philip, Ulph, Fiona, Uribe, Daniel, Urv, Tiina, Vacher, Cora, Van Den Bogaert, Kris, van der Burg, Mirjam, Van Steijvoort, Eva, Veloudi, Yiota, Vengoechea, Elizabeth, Voorhoeve, Els, Vu, Martin, Wasserstein, Melissa, Watson, Michael, Webb, Bryn, Ellsworth, Katarzyna, Badji, Radja Messai, Wedell, Anna, Elsea, Sarah, Metherell, Lou, Westover, Thomas, Encina, Nicolas, Mikkelsen, Nanna Balle, Wiedemann, Alexandra, Etheredge, Harriet, Milko, Laura, Wright, Meredith, Faivre, Laurence, Miller, Nicole, Wu, Cindy, Ferlini, Alessandra, Minten, Thomas, Yeo, Julie, Ferrie, Monica, Morgan, Sian, Yin-Hsiu Chien, Nancy, Finkel, Terri, Mosiewicz, Katarzyna, Yusuff, Shamila, Furu, Petra, Mütze, Ulrike, Zemojtel, Tomasz, Galarza-Cornejo, Jamie, Nicklen, Sukhvinder, Zettler, Bethany, Gao, Ya, Niemela, Minna, Zhao, Zhengyan, Garcia-Villoria, Judit, Niu, Dau-Ming, Ziff, Joanna, Gardner, Liz, Norris, Sarah, Zimmerman, Rebekah, Gaviglio, Amy, Novelli, Antonio, Zuccolo, Michela, Gelb, Michael, Nusair, Arwa, Berg, Jonathan S. ¹⁰, Chung, Wendy K. ^{12, 13}, Cope, Heidi L. ¹⁴, Eckstein, David J. ¹⁵, García-Villoria, Judit ^{20, 21, 22}, Gelb, Michael H. ²³, González De Aledo-Castillo, José Manuel ²⁰, Golden-Grant, Katie ²⁴, Parad, Richard B. ^{13, 25}, Sund, Kristen L. ²⁸, Green, Robert C. ^{6, 13, 31, 32}, Gold, Nina B. ^{3, 33, ∗}

Πηγή: In Genetics in Medicine January 2026 28(1)

Modulation of the JAK2-STAT3 pathway promotes expansion and maturation of human iPSC-derived myogenic progenitor cells

Συγγραφείς: Caputo, Luca ^{1, ∗}, Stamenkovic, Cedomir ^{1, 2}, Tierney, Matthew T. ^{1, 2, 5}, Cecchini, Alessandra ¹, Nicolau, Monica ^{1, 2}, Guarnaccia, Gabriele ^{1, 2}, Barajas, Jesus R. ¹, Falzarano, Maria Sofia ³, Bassel-Duby, Rhonda ⁴, Ferlini, Alessandra ³, Olson, Eric N. ⁴, Puri, Pier Lorenzo ¹, Sacco, Alessandra ^{1, 6, ∗∗}

Πηγή: In Stem Cell Reports 11 November 2025 20(11)

Cardiac conduction disorders in young adults: Clinical characteristics and genetic background of an underestimated population

Συγγραφείς: Balla, Cristina, Margutti, Alice, De Carolis, Beatrice, Canovi, Luca, Di Domenico, Assunta, Vivaldi, Ilaria, Vitali, Francesco, De Raffele, Martina, Malagù, Michele, Sassone, Biagio, Biffi, Mauro, Selvatici, Rita, Ferlini, Alessandra, Gualandi, Francesca, Bertini, Matteo

Πηγή: Heart Rhythm. 21:1363-1369

Θεματικοί όροι: Male, Adult, Electrocardiography, Cardiac Conduction System Disease, Heart Conduction System, Humans, Female, Genetic Testing, cardiac conduction disorders, pacemaker, young, Middle Aged, Retrospective Studies, Defibrillators, Implantable, NAV1.5 Voltage-Gated Sodium Channel

Περιγραφή αρχείου: application/pdf

Σύνδεσμος πρόσβασης: https://pubmed.ncbi.nlm.nih.gov/38467355
https://hdl.handle.net/11392/2543395
https://doi.org/10.1016/j.hrthm.2024.03.008
https://www.sciencedirect.com/science/article/pii/S1547527124002431

Circadian Genes as Exploratory Biomarkers in DMD: Results From Both the mdx Mouse Model and Patients

Συγγραφείς: Rossi, Rachele, Author, Falzarano, Maria Sofia, Author, Osman, Hana, Author, Armaroli, Annarita, Author, Scotton, Chiara, Author, Mantuano, Paola, Author, Boccanegra, Brigida, Author, Cappellari, Ornella, Author, Schwartz, Elena, Author, Yuryev, Anton, Author, Mercuri, Eugenio, Author, Bertini, Enrico, Author, D'Amico, Adele, Author, Mora, Marina, Author, Johansson, Camilla, Author, Al-Khalili Szigyarto, Cristina, Author, De Luca, Annamaria, Author, Ferlini, Alessandra, Author

Συνεισφορές: Rossi, Rachele, Author, Falzarano, Maria Sofia, Author, Osman, Hana, Author, Armaroli, Annarita, Author, Scotton, Chiara, Author, Mantuano, Paola, Author, Boccanegra, Brigida, Author, Cappellari, Ornella, Author, Schwartz, Elena, Author, Yuryev, Anton, Author, Mercuri, Eugenio, Author, Bertini, Enrico, Author, D'Amico, Adele, Author, Mora, Marina, Author, Johansson, Camilla, Author, Al-Khalili Szigyarto, Cristina, Author, De Luca, Annamaria, Author, Ferlini, Alessandra, Author

Πηγή: Frontiers in Physiology. 12

Θεματικοί όροι: circadian rhythm, Duchenne muscular dystrophy (DMD), mdx mice, skeletal muscle, RNA analysis, biomarker

Περιγραφή αρχείου: print

Σύνδεσμος πρόσβασης: https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-299284
https://doi.org/10.3389/fphys.2021.678974

European Reference Networks as core health structures where referring genetic newborn screening positive infants: an innovative operational research framework /

Συγγραφείς: Fortunato, Fernanda, Selvatici, Rita, Kirschner, Jan, Sansen, Stefaan, Agolini, Emanuele, Ottombrino, Silvia, Bertini, Enrico, Novelli, Antonio, Einhorn, Moshe, Matalonga, Leslie, Beltran, Sergi, Gut, Ivo G., Pereira, Alberto M., Hiort, Olaf, Schaefer, Franz, Verloes, Alain, Lohse, Ansgar W., Wilde, Arthur A. M., Bodemer, Christine, Jondeau, Guillaume, Dollfus, Hélène, Graessner, Holm, Mathijssen, Irene M. J., L'khssim, Ikram, Blay, Jean-Yves, Sangiorgi, Luca, Fenaux, Pierre, Mañú Pereira, María del Mar, Gutiérrez Valle, Victoria, Mosca, Marta, Hoogerbrugge, Nicoline, Wijnen, Rene, Evangelista, Teresinha, D'Angelo, Carla, Wagner, Thomas O. F., Feitz, Wout F. J., Ladenstein, Ruth, Dobai, Zoltan, Wulffraat, Nico, Ruperto, Nicola, Jara Vega, Paloma, Bellettato, Cinzia Maria, Scarpa, Maurizio, Onali, Michela, Tchaicha, Sébile, Arzimanoglou, Alexis, Oh, Jun, Lenz, Dominic, Tumienė, Birutė, Zygmunt, Aldona, Ferlini, Alessandra

Πηγή: Frontiers in public health., Lausanne : Frontiers Media SA, 2026, vol. 14, p. [1-9]. ; eISSN 2296-2565

Θεματικοί όροι: European reference networks (ERNs), genomic newborn screening, healthcare pathways, operational workflow, rare genetic diseases, screen4care, treatable genetic disorders

Περιγραφή αρχείου: application/pdf

Relation: https://epublications.vu.lt/object/elaba:323315923/323315923.pdf; https://repository.vu.lt/VU:ELABAPDB323315923&prefLang=en_US

Διαθεσιμότητα: https://repository.vu.lt/VU:ELABAPDB323315923&prefLang=en_US

European Reference Networks as core health structures where referring genetic newborn screening positive infants:an innovative operational research framework

Συγγραφείς: Fortunato, Fernanda, Selvatici, Rita, Kirschner, Jan, Sansen, Stefaan, Agolini, Emanuele, Ottombrino, Silvia, Bertini, Enrico, Novelli, Antonio, Einhorn, Moshe, Matalonga, Leslie, Beltran, Sergi, Gut, Ivo G., Pereira, Alberto M., Hiort, Olaf, Schaefer, Franz, Verloes, Alain, Lohse, Ansgar W., Wilde, Arthur A. M., Bodemer, Christine, Jondeau, Guillaume, Dollfus, Helene, Graessner, Holm, Mathijssen, Irene M. J., L'khssim, Ikram, Blay, Jean-Yves, Sangiorgi, Luca, Fenaux, Pierre, Pereira, Maria del Mar Manu, Valle, Victoria Gutierrez, Mosca, Marta, Hoogerbrugge, Nicoline, Wijnen, Rene, Evangelista, Teresinha, D'Angelo, Carla, Wagner, Thomas O. F., Feitz, Wout F. J., Ladenstein, Ruth, Dobai, Zoltan, Wulffraat, Nico, Ruperto, Nicola, Vega, Paloma Jara, Bellettato, Cinzia Maria, Scarpa, Maurizio, Onali, Michela, Tchaicha, Sebile, Arzimanoglou, Alexis, Oh, Jun, Lenz, Dominic, Tumiene, Birute, Zygmunt, Aldona, Ferlini, Alessandra

Πηγή: Fortunato, F, Selvatici, R, Kirschner, J, Sansen, S, Agolini, E, Ottombrino, S, Bertini, E, Novelli, A, Einhorn, M, Matalonga, L, Beltran, S, Gut, I G, Pereira, A M, Hiort, O, Schaefer, F, Verloes, A, Lohse, A W, Wilde, A A M, Bodemer, C, Jondeau, G, Dollfus, H, Graessner, H, Mathijssen, I M J, L'khssim, I, Blay, J-Y, Sangiorgi, L, Fenaux, P, Pereira, M D M M, Valle, V G, Mosca, M, Hoogerbrugge, N, Wijnen, R, Evangelista, T, D'Angelo, C, Wagner, T O F, Feitz, W F J, Ladenstein, R, Dobai, Z, Wulffraat, N, Ruperto, N, Vega, P J, Bellettato, ....

Περιγραφή αρχείου: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/42359128; info:eu-repo/semantics/altIdentifier/wos/001800878100001; info:eu-repo/semantics/altIdentifier/pissn/2296-2565; info:eu-repo/semantics/altIdentifier/eissn/2296-2565

Διαθεσιμότητα: https://pure.eur.nl/en/publications/32bcb2ea-8361-441e-b00a-86998a7c8ee6
https://doi.org/10.3389/fpubh.2026.1822461
https://pure.eur.nl/ws/files/255941757/fpubh-14-1822461.pdf
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=eur_pure&SrcAuth=WosAPI&KeyUT=WOS:001800878100001&DestLinkType=FullRecord&DestApp=WOS_CPL

Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing

Συγγραφείς: Downie, Lilian, Yeo, Julie, Minten, Thomas, Heald, Rose, Ansel, Derek, Baker, Mei, Balciuniene, Jorune, Berg, Jonathan, Boemer, François, Chung, Wendy, Cope, Heidi, Eckstein, David, Encina, Nicolas, Faivre, Laurence, Ferlini, Alessandra, García-Villoria, Judit, Gelb, Michael, Gonz´ Alez De Aledo-Castillo, Manuel, Golden-Grant, Katie, Parad, Richard, Shah, Nidhi, Stark, Zornitza, Sund, Kristen, Tsipouras, Petros, To, Meekai, Bick, David, Green, Robert, Gold, Nina

Πηγή: Genetics in Medicine, 28 (1), 101618 (2026)

Θεματικοί όροι: Delphi technique Gene selection Genomic sequencing Newborn screening, Human health sciences, Pediatrics, Sciences de la santé humaine, Pédiatrie

Relation: https://api.elsevier.com/content/article/PII:S1098360025002655?httpAccept=text/xml; urn:issn:1098-3600; urn:issn:1530-0366

Σύνδεσμος πρόσβασης: https://orbi.uliege.be/handle/2268/343235