1 2 3 4 5 6 7 8 9 10 11 12 13

Cardiac conduction disorders in young adults: clinical characteristics and genetic background of an underestimated population 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 details >>	HEART RHYTHM Vol. In Press, No. Journal Pre-proof, pp: 1-28, Anno: 2024

DMD deletions underlining mild dystrophinopathies: literature review highlights phenotype-related mutation clusters and provides insights about genetic mechanisms and prognosis Fortunato, Fernanda; Tonelli, Laura; Farnè, Marianna; Selvatici, Rita; Ferlini, Alessandra details >>	FRONTIERS IN NEUROLOGY Vol. 14, No. 15 gennaio 2024, pp: 1288721-1-1288721-9, Anno: 2024

AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients Colucci, Fabiana; Neri, Marcella; Fortunato, Fernanda; Ferlini, Alessandra; Carrozzo, Rosalba; Torraco, Alessandra; Lamantea, Eleonora; Legati, Andrea; Tecilla, Ginevra; Pugliatti, Maura; Sensi, Mariachiara details >>	THE CEREBELLUM Vol. 22, No. 6, pp: 1313-1319, Anno: 2023

Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience Fortunato, Fernanda; Bianchi, Francesca; Ricci, Giulia; Torri, Francesca; Gualandi, Francesca; Neri, Marcella; Farnè, Marianna; Giannini, Fabio; Malandrini, Alessandro; Volpi, Nila; Lopergolo, Diego; Silani, Vincenzo; Ticozzi, Nicola; Verde, Federico; Pareyson, Davide; Fenu, Silvia; Bonanno, Silvia; Nigro, Vincenzo; Peduto, Cristina; D'Ambrosio, Paola; Zeuli, Roberta; Zanobio, Mariateresa; Picillo, Esther; Servidei, Serenella; Primiano, Guido; Sancricca, Cristina; Sciacco, Monica; Brusa, Roberta; Filosto, Massimiliano; Cotti Piccinelli, Stefano; Pegoraro, Elena; Mongini, Tiziana; Solero, Luca; Gadaleta, Giulio; Brusa, Chiara; Minetti, Carlo; Bruno, Claudio; Panicucci, Chiara; Sansone, Valeria A; Lunetta, Christian; Zanolini, Alice; Toscano, Antonio; Pugliese, Alessia; Nicocia, Giulia; Bertini, Enrico; Catteruccia, Michela; Diodato, Daria; Atalaia, Antonio; Evangelista, Teresinha; Siciliano, Gabriele; Ferlini, Alessandra details >>	ORPHANET JOURNAL OF RARE DISEASES Vol. 18, No. 1, pp: 196-202, Anno: 2023

SCN5A mutation is associated with a higher Shanghai Score in patients with type 1 Brugada ECG pattern Tonelli, Laura; Balla, Cristina; Farnè, Marianna; Margutti, Alice; Maniscalchi, Eugenia Tiziana; De Feo, Gaetano; Di Domenico, Assunta; De Raffele, Martina; Percesepe, Antonio; Uliana, Vera; Barili, Valeria; Serra, Walter; Sassone, Biagio; Virzì, Santo; De Maria, Elia; Parmeggiani, Giulia; Assenza, Gabriele Egidy; Biagini, Elena; Parisi, Vanda; Biffi, Mauro; Carinci, Valeria; Perugini, Enrica; Imbrici, Paola; Ferlini, Alessandra; Bertini, Matteo; Selvatici, Rita; Gualandi, Francesca details >>	JOURNAL OF CARDIOVASCULAR MEDICINE Vol. 24, No. 12, pp: 864-870, Anno: 2023

Rare diseases' genetic newborn screening as the gateway to future genomic medicine: the Screen4Care EU-IMI project Ferlini, Alessandra; Gross, Edith Sky; Garnier, Nicolas; Berghout, Joanne; Zygmunt, Aldona; Singh, Deependra; Huang, Kui A.; Kantz, Waltraud; Blankart, Carl Rudolf; Gillner, Sandra; Zhao, Jiawei; Roettger, Richard; Saier, Christina; Kirschner, Jan; Schenk, Joern; Atkins, Leon; Ryan, Nuala; Zarakowska, Kaja; Zschüntzsch, Jana; Zuccolo, Michela; Müllenborn, Matthias; Man, Yuen-Sum; Goodman, Liz; Lysogene, Marie Trad; Chalandon, Anne Sophie; Sansen, Stefaan; Martinez-Fresno, Maria; Badger, Shirlene; van Olden, Rudolf Walther; Rothmann, Robert; Lehner, Patrick; Tschohl, Christof; Baillon, Ludovic; Gumus, Gulcin; Stefanov, Rumen; Iskrov, Georgi; Raycheva, Ralitsa; Kostadinov, Kostadin; Stefanov, Georgi; Mitova, Elena; Einhorn, Moshe; Einhorn, Yaron; Schepers, Josef; Hübner, Miriam; Alves, Frauke; Iskandar, Rowan; Mayer, Rudolf; Renieri, Alessandra; Piperkova, Aneta; Gut, Ivo; Beltran, Sergi; Matthiesen, Mads Emil; Poetz, Marion; Hansson, Mats; Trollmann, Regina; Agolini, Emanuele; Ottombrino, Silvia; Novelli, Antonio; Bertini, Enrico; Selvatici, Rita; Farnè, Marianna; Fortunato, Fernanda details >>	ORPHANET JOURNAL OF RARE DISEASES Vol. 18, No. 1, pp: 310-1-310-4, Anno: 2023

Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 Jackson, Adam; Lin, Sheng-Jia; Jones, Elizabeth A.; Chandler, Kate E.; Orr, David; Moss, Celia; Haider, Zahra; Ryan, Gavin; Holden, Simon; Harrison, Mike; Burrows, Nigel; Jones, Wendy D.; Loveless, Mary; Petree, Cassidy; Stewart, Helen; Low, Karen; Donnelly, Deirdre; Lovell, Simon; Drosou, Konstantina; Varshney, Gaurav K.; Banka, Siddharth; Ambrose, J. C.; Arumugam, P.; Bevers, R.; Bleda, M.; Boardman-Pretty, F.; Boustred, C. R.; Brittain, H.; Brown, M. A.; Caulfield, M. J.; Chan, G. C.; Giess, A.; Griffin, J. N.; Hamblin, A.; Henderson, S.; Hubbard, T. J. P.; Jackson, R.; Jones, L. J.; Kasperaviciute, D.; Kayikci, M.; Kousathanas, A.; Lahnstein, L.; Lakey, A.; Leigh, S. E. A.; Leong, I. U. S.; Lopez, F. J.; Maleady-Crowe, F.; Mcentagart, M.; Minneci, F.; Mitchell, J.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A. C.; O‘donovan, P.; Odhams, C. A.; Patch, C.; Perez-Gil, D.; Pereira, M. B.; Pullinger, J.; Rahim, T.; Rendon, A.; Rogers, T.; Savage, K.; Sawant, K.; Scott, R. H.; Siddiq, A.; Sieghart, A.; Smith, S. C.; Sosinsky, A.; Stuckey, A.; Tanguy, M.; Taylor Tavares, A. L.; Thomas, E. R. A.; Thompson, S. R.; Tucci, A.; Welland, M. J.; Williams, E.; Witkowska, K.; Wood, S. M.; Zarowiecki, M.; Riess, Olaf; Haack, Tobias B.; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Sturm, Marc; Schulze-Hentrich, Julia M.; Schüle, Rebecca; Kessler, Christoph; Wayand, Melanie; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Schöls, Ludger; Hengel, Holger; Heutink, Peter; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; Hoischen, Alexander; ’t Hoen, Peter A. C.; Vissers, Lisenka E. L. M.; Gilissen, Christian; Steyaert, Wouter; Sablauskas, Karolis; de Voer, Richarda M.; Kamsteeg, Erik-Jan; van de Warrenburg, Bart; van Os, Nienke; Paske, Iris te; Janssen, Erik; de Boer, Elke; Steehouwer, Marloes; Yaldiz, Burcu; Kleefstra, Tjitske; Brookes, Anthony J.; Veal, Colin; Gibson, Spencer; Wadsley, Marc; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Dizjikan, Farid Yavari; Shorter, Thomas; Töpf, Ana; Straub, Volker; Bettolo, Chiara Marini; Specht, Sabine; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Tisserant, Emilie; Bruel, Ange-Line; Peyron, Christine; Pélissier, Aurore; Beltran, Sergi; Gut, Ivo Glynne; Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Bullich, Gemma; Corvo, Alberto; Garcia, Carles; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Paramonov, Ida; Lochmüller, Hanns; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Olry, Annie; Lagorce, David; Havrylenko, Svitlana; Izem, Katia; Rigour, Fanny; Stevanin, Giovanni; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Nelson, Isabelle; Ben Yaou, Rabah; Metay, Corinne; Eymard, Bruno; Cohen, Enzo; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Kremlik, Vlastimil; Parkinson, Helen; Keane, Thomas; Spalding, Dylan; Senf, Alexander; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Timmerman, Vincent; Baets, Jonathan; Van de Vondel, Liedewei; Beijer, Danique; de Jonghe, Peter; Nigro, Vincenzo; Banfi, Sandro; Torella, Annalaura; Musacchia, Francesco; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Rossi, Rachele; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer, Anna Katharina; Peters, Sophia; Oliveira, Carla; Pelaez, Jose Garcia; Matos, Ana Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; Johansson, Lennart; van der Velde, Joeri K.; van der Vries, Gerben; Neerincx, Pieter B.; Roelofs-Prins, Dieuwke; Köhler, Sebastian; Metcalfe, Alison; Verloes, Alain; Drunat, Séverine; Rooryck, Caroline; Trimouille, Aurelien; Castello, Raffaele; Morleo, Manuela; Pinelli, Michele; Varavallo, Alessandra; De la Paz, Manuel Posada; Sánchez, Eva Bermejo; Martín, Estrella López; Delgado, Beatriz Martínez; Alonso García de la Rosa, F. Javier; Ciolfi, Andrea; Dallapiccola, Bruno; Pizzi, Simone; Radio, Francesca Clementina; Tartaglia, Marco; Renieri, Alessandra; Benetti, Elisa; Balicza, Peter; Molnar, Maria Judit; Maver, Ales; Peterlin, Borut; Münchau, Alexander; Lohmann, Katja; Herzog, Rebecca; Pauly, Martje; Macaya, Alfons; Marcé-Grau, Anna; Osorio, Andres Nascimiento; Natera de Benito, Daniel; Lochmüller, Hanns; Thompson, Rachel; Polavarapu, Kiran; Beeson, David; Cossins, Judith; Rodriguez Cruz, Pedro M.; Hackman, Peter; Johari, Mridul; Savarese, Marco; Udd, Bjarne; Horvath, Rita; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Schröck, Evelin; Rump, Andreas details >>	HGG ADVANCES Vol. 4, No. 2, pp: 100186-1-100186-19, Anno: 2023

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing Yaldiz, Burcu; Kucuk, Erdi; Hampstead, Juliet; Hofste, Tom; Pfundt, Rolph; Corominas Galbany, Jordi; Rinne, Tuula; Yntema, Helger G.; Hoischen, Alexander; Nelen, Marcel; Gilissen, Christian; Riess, Olaf; Haack, Tobias B.; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Sturm, Marc; Schulze-Hentrich, Julia M.; Schüle, Rebecca; Xu, Jishu; Kessler, Christoph; Wayand, Melanie; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Schöls, Ludger; Hengel, Holger; Lerche, Holger; Kegele, Josua; Heutink, Peter; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; Hoischen, Alexander; Hoen, Peter A. C. ’t; Vissers, Lisenka E. L. M.; Gilissen, Christian; Steyaert, Wouter; Sablauskas, Karolis; de Voer, Richarda M.; Kamsteeg, Erik-Jan; van de Warrenburg, Bart; van Os, Nienke; te Paske, Iris; Janssen, Erik; de Boer, Elke; Steehouwer, Marloes; Yaldiz, Burcu; Kleefstra, Tjitske; Brookes, Anthony J.; Veal, Colin; Gibson, Spencer; Maddi, Vatsalya; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Dizjikan, Farid Yavari; Shorter, Thomas; Töpf, Ana; Straub, Volker; Bettolo, Chiara Marini; Manera, Jordi Diaz; Hambleton, Sophie; Engelhardt, Karin; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Bruel, Ange-Line; Peyron, Christine; Pélissier, Aurore; Beltran, Sergi; Gut, Ivo Glynne; Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Bullich, Gemma; Corvo, Alberto; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Paramonov, Ida; Lochmüller, Hanns; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Lagorce, David; Hongnat, Oscar; Chahdil, Maroua; Lebreton, Emeline; Stevanin, Giovanni; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Nelson, Isabelle; Yaou, Rabah Ben; Metay, Corinne; Eymard, Bruno; Cohen, Enzo; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Lišková, Petra; Doležalová, Pavla; Parkinson, Helen; Keane, Thomas; Freeberg, Mallory; Thomas, Coline; Spalding, Dylan; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Efthymiou, Stephanie; Morsy, Heba; Cali, Elisa; Magrinelli, Francesca; Sisodiya, Sanjay M.; Rohrer, Jonathan; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Timmerman, Vincent; Baets, Jonathan; de Vries, Geert; De Winter, Jonathan; Beijer, Danique; de Jonghe, Peter; Van de Vondel, Liedewei; De Ridder, Willem; Weckhuysen, Sarah; Nigro, Vincenzo; Mutarelli, Margherita; Morleo, Manuela; Pinelli, Michele; Varavallo, Alessandra; Banfi, Sandro; Torella, Annalaura; Musacchia, Francesco; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Gualandi, Francesca; Bigoni, Stefania; Rossi, Rachele; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer, Anna Katharina; Peters, Sophia; Oliveira, Carla; Pelaez, Jose Garcia; Matos, Ana Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; Johansson, Lennart; van der Velde, Joeri K.; van der Vries, Gerben; Neerincx, Pieter B.; Ruvolo, David; Abbott, Kristin M.; Frederikse, Wilhemina SKerstjens; Zonneveld-Huijssoon, Eveline; Roelofs-Prins, Dieuwke; van Gijn, Marielle; Köhler, Sebastian; Metcalfe, Alison; Verloes, Alain; Drunat, Séverine; Heron, Delphine; Mignot, Cyril; Keren, Boris; de Sainte Agathe, Jean-Madeleine; Rooryck, Caroline; Lacombe, Didier; Trimouille, Aurelien; De la Paz, Manuel Posada; Sánchez, Eva Bermejo; Martín, Estrella López; Delgado, Beatriz Martínez; de la Rosa, F. Javier Alonso García; Ciolfi, Andrea; Dallapiccola, Bruno; Pizzi, Simone; Radio, Francesca Clementina; Tartaglia, Marco; Renieri, Alessandra; Furini, Simone; Fallerini, Chiara; Benetti, Elisa; Balicza, Peter; Molnar, Maria Judit; Maver, Ales; Peterlin, Borut; Münchau, Alexander; Lohmann, Katja; Herzog, Rebecca; Pauly, Martje; Macaya, Alfons; Cazurro-Gutiérrez, Ana; Pérez-Dueñas, Belén; Munell, Francina; Jarava, Clara Franco; Masó, Laura Batlle; Marcé-Grau, Anna; Colobran, Roger; Osorio, Andrés Nascimento; de Benito, Daniel Natera; Lochmüller, Hanns; Thompson, Rachel; Polavarapu, Kiran; Grimbacher, Bodo; Beeson, David; Cossins, Judith; Hackman, Peter; Johari, Mridul; Savarese, Marco; Udd, Bjarne; Horvath, Rita; Chinnery, Patrick F.; Ratnaike, Thiloka; Gao, Fei; Schon, Katherine; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Schröck, Evelin; Rump, Andreas; Başak, Ayşe Nazlı; Hemelsoet, Dimitri; Dermaut, Bart; Schuermans, Nika; Poppe, Bruce; Verdin, Hannah; Mei, Davide; Vetro, Annalisa; Balestrini, Simona; Guerrini, Renzo; Claeys, Kristl; Santen, Gijs W. E.; Bijlsma, Emilia K.; Hoffer, Mariette J. V.; Ruivenkamp, Claudia A. L.; Boztug, Kaan; Haimel, Matthias; Maystadt, Isabelle; Cordts, Isabelle; Deschauer, Marcus; Zaganas, Ioannis; Kokosali, Evgenia; Lambros, Mathioudakis; Evangeliou, Athanasios; Spilioti, Martha; Kapaki, Elisabeth; Bourbouli, Mara; Striano, Pasquale; Zara, Federico; Riva, Antonella; Iacomino, Michele; Uva, Paolo; Scala, Marcello; Scudieri, Paolo; Cilio, Maria-Roberta; Carpancea, Evelina; Depondt, Chantal; Lederer, Damien; Sznajer, Yves; Duerinckx, Sarah; Mary, Sandrine; Depienne, Christel; Roos, Andreas; May, Patrick; Null, Null details >>	HUMAN GENOMICS Vol. 17, No. 1, pp: 39-1-39-9, Anno: 2023

TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases Farne, M.; Fortunato, F.; Neri, M.; Farne, M.; Balla, C.; Albamonte, E.; Barp, A.; Armaroli, A.; Perugini, E.; Carinci, V.; Facchini, M.; Chiarini, L.; Sansone, V. A.; Straudi, S.; Tugnoli, V.; Sette, E.; Sensi, M.; Bertini, M.; Evangelista, T.; Ferlini, A.; Gualandi, F. details >>	EUROPEAN JOURNAL OF MEDICAL GENETICS Vol. 66, No. 6, pp: 104749-1-104749-7, Anno: 2023

Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe Garnier, Nicolas; Berghout, Joanne; Zygmunt, Aldona; Singh, Deependra; Huang, Kui A.; Kantz, Waltraud; Blankart, Carl Rudolf; Gillner, Sandra; Zhao, Jiawei; Roettger, Richard; Saier, Christina; Kirschner, Jan; Schenk, Joern; Atkins, Leon; Ryan, Nuala; Zarakowska, Kaja; Zschüntzsch, Jana; Zuccolo, Michela; Müllenborn, Matthias; Man, Yuen-Sum; Goodman, Liz; Trad, Marie; Chalandon, Anne Sophie; Sansen, Stefaan; Martinez-Fresno, Maria; Badger, Shirlene; Walther van Olden, Rudolf; Rothmann, Robert; Lehner, Patrick; Tschohl, Christof; Baillon, Ludovic; Gumus, Gulcin; Gross, Edith; Stefanov, Rumen; Iskrov, Georgi; Raycheva, Ralitsa; Kostadinov, Kostadin; Mitova, Elena; Einhorn, Moshe; Einhorn, Yaron; Schepers, Josef; Hübner, Miriam; Alves, Frauke; Iskandar, Rowan; Mayer, Rudolf; Renieri, Alessandra; Piperkova, Aneta; Gut, Ivo; Beltran, Sergi; Matthiesen, Mads Emil; Poetz, Marion; Hansson, Mats; Trollmann, Regina; Agolini, Emanuele; Ottombrino, Silvia; Novelli, Antonio; Bertini, Enrico; Selvatici, Rita; Farnè, Marianna; Fortunato, Fernanda; Ferlini, Alessandra details >>	PLOS ONE Vol. 18, No. 11, pp: e0293503-1-e0293503-14, Anno: 2023

mRNA in situ hybridization exhibits unbalanced nuclear/cytoplasmic dystrophin transcript repartition in Duchenne myogenic cells and skeletal muscle biopsies Falzarano, Maria Sofia; Mietto, Martina; Fortunato, Fernanda; Farnè, Marianna; Martini, Fernanda; Ala, Pierpaolo; Selvatici, Rita; Muntoni, Francesco; Ferlini, Alessandra details >>	SCIENTIFIC REPORTS Vol. 13, No. 1, pp: 15942--, Anno: 2023

Clinical presentations leading to arrhythmogenic left ventricular cardiomyopathy Graziosi, Maddalena; Ditaranto, Raffaello; Rapezzi, Claudio; Pasquale, Ferdinando; Lovato, Luigi; Leone, Ornella; Parisi, Vanda; Potena, Luciano; Ferrara, Valentina; Minnucci, Matteo; Caponetti, Angelo Giuseppe; Chiti, Chiara; Ferlini, Alessandra; Gualandi, Francesca; Rossi, Cesare; Berardini, Alessandra; Tini, Giacomo; Bertini, Matteo; Ziacchi, Matteo; Biffi, Mauro; Galie, Nazzareno; Olivotto, Iacopo; Biagini, Elena details >>	OPEN HEART Vol. 9, No. 1, pp: e001914-1-e001914-11, Anno: 2022

THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder Broly, Martin; V Polevoda, Bogdan; M Awayda, Kamel; Tong, Ning; Lentini, Jenna; Besnard, Thomas; Deb, Wallid; O'Rourke, Declan; Baptista, Julia; Ellard, Sian; Almannai, Mohammed; Hashem, Mais; Abdulwahab, Ferdous; Shamseldin, Hanan; Al-Tala, Saeed; S Alkuraya, Fowzan; Leon, Alberta; E van Loon, Rosa L; Ferlini, Alessandra; Sanchini, Mariabeatrice; Bigoni, Stefania; Ciorba, Andrea; van Bokhoven, Hans; Iqbal, Zafar; Al-Maawali, Almundher; Al-Murshedi, Fathiya; Ganesh, Anuradha; Al-Mamari, Watfa; Chern Lim, Sze; S Pais, Lynn; Brown, Natasha; Riazuddin, Saima; Bézieau, Stéphane; Fu, Dragony; Isidor, Bertrand; Cogné, Benjamin; R O'Connell, Mitchell details >>	AMERICAN JOURNAL OF HUMAN GENETICS Vol. 109, No. 4, pp: 587-600, Anno: 2022

Can paranasal sinus computed tomography screen for cystic fibrosis heterozygotes? Malagutti, Nicola; Cogliandolo, Cristina; Franciosi, Doriana; Ferlini, Alessandra; Rimessi, Paola; Ravani, Anna; Bianchini, Chiara; Ciorba, Andrea; Stomeo, Francesco; Pelucchi, Stefano details >>	PANMINERVA MEDICA Vol. 64, No. 1, pp: 116-119, Anno: 2022

RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing Falzarano, Ms; Grilli, A; Zia, S; Fang, M; Rossi, R; Gualandi, F; Rimessi, P; El Dani, R; Fabris, M; Lu, Z; Li, W; Mongini, T; Ricci, F; Pegoraro, E; Bello, L; Barp, A; Sansone, Va; Hegde, M; Roda, B; Reschiglian, P; Bicciato, S; Selvatici, R; Ferlini, A. details >>	HGG ADVANCES Vol. 3, No. 1, pp: 100054-1-100054-18, Anno: 2022

Communicating the diagnosis of Klinefelter syndrome to children and adolescents: when, how, and who? Aliberti, L.; Gagliardi, I.; Bigoni, S.; Lupo, S.; Caracciolo, S.; Ferlini, A.; Isidori, A. M.; Zatelli, M. C.; Ambrosio, M. R. details >>	JOURNAL OF COMMUNITY GENETICS Vol. 13, No. 3, pp: 271-280, Anno: 2022

Beyond canvas: behavioral onset of rfc1-expansion disease in an Italian family-causal or casual? Colucci, Fabiana; Di Bella, Daniela; Pisciotta, Chiara; Sarto, Elisa; Gualandi, Francesca; Neri, Marcella; Ferlini, Alessandra; Contaldi, Elena; Pugliatti, Maura; Pareyson, Davide; Sensi, Mariachiara details >>	NEUROLOGICAL SCIENCES Vol. 43, No. 8, pp: 5095-5098, Anno: 2022

Koolen-de Vries syndrome in a 63-year-old woman: Report of the oldest patient and a review of the adult phenotype Farnè, Marianna; Bernardini, Laura; Capalbo, Anna; Cavarretta, Giusy; Torres, Barbara; Sanchini, Mariabeatrice; Fini, Sergio; Ferlini, Alessandra; Bigoni, Stefania details >>	AMERICAN JOURNAL OF MEDICAL GENETICS. PART A Vol. 188, No. 2, pp: 692-707, Anno: 2022

Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries Selvatici, Rita; Rossi, Rachele; Fortunato, Fernanda; Trabanelli, Cecilia; Sifi, Yamina; Margutti, Alice; Neri, Marcella; Gualandi, Francesca; Szabò, Lena; Fekete, Balint; Angelova, Lyudmilla; Litvinenko, Ivan; Ivanov, Ivan; Vildan, Yurtsever; Iuhas, Oana Alexandra; Vintan, Mihaela; Burloiu, Carmen; Lacramioara, Butnariu; Visa, Gabriela; Epure, Diana; Rusu, Cristina; Vasile, Daniela; Sandu, Magdalena; Vlodavets, Dmitry; Mager, Monica; Kyriakides, Theodore; Delin, Sanja; Lehman, Ivan; Fureš, Jadranka Sekelj; Bojinova, Veneta; Militaru, Mariela; Guergueltcheva, Velina; Burnyte, Birute; Molnar, Maria Judith; Butoianu, Niculina; Bensemmane, Selma Dounia; Makri-Mokrane, Samira; Herczegfalvi, Agnes; Panzaru, Monica; Emandi, Adela Chirita; Lusakowska, Anna; Potulska-Chromik, Anna; Kostera-Pruszczyk, Anna; Shatillo, Andriy; Khelladi, Djawed Bouchenak; Dendane, Oussama; Fang, Mingyan; Lu, Zhiyuan; Ferlini, Alessandra details >>	NEUROLOGY. GENETICS Vol. 7, No. 1, pp: e536-1-e536-12, Anno: 2021

Neurological involvement in Ile68Leu (p.Ile88Leu) ATTR amyloidosis: not only a cardiogenic mutation Pastorelli, F.; Fabbri, G.; Rapezzi, C.; Serenelli, M.; Plasmati, R.; Vacchiano, V.; Ferlini, A.; Manfrini, M.; Salvi, F. details >>	AMYLOID Vol. 28, No. 3, pp: 173-181, Anno: 2021