학술논문
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'학술논문'
에서 검색결과 661건 | 목록
1~20
Academic Journal
Fortunato, Fernanda; Fiocco, Laura; Margutti, Alice; Neri, Marcella; D’Amico, Adele; Bertini, Enrico; Ricci, Enzo; Mercuri, Eugenio Maria; Pane, Marika; Massa, Roberto; Greco, Giulia; Berardinelli, Angela Lucia; Cereda, Cristina; Pini, Antonella; Merlini, Luciano; Fusco, Carlo; Rodolico, Carmelo; Messina, Sonia; Fiorillo, Chiara; Bruno, Claudio; Pedemonte, Marina; Traverso, Monica; Moroni, Isabella; Maggi, Lorenzo; Gibertini, Sara; Pegoraro, Elena; Picillo, Esther; Politano, Luisa; Scutifero, Marianna; Vercellino, Fabiana; Massaro, Francesca; Filosto, Massimiliano; Gasparini, Paolo; Ricci, Federica; Mongini, Tiziana Enrica; Selvatici, Rita; Ferlini, Alessandra; Gualandi, Francesca
Biomolecules. October, 2025, Vol. 15 Issue 10,.
Academic Journal
Godino, Lea; Ambrosini, Enrico; Barili, Valeria; Graziano, Claudio; Garavelli, Livia; Calabrese, Olga; Neri, Marcella; Sangiorgi, Luca; Bertonazzi, Benedetta; Innella, Giovanni; Turchetti, Daniela; Percesepe, Antonio
Journal of Community Genetics. :1-12
Academic Journal
Mietto, Martina; Montanari, Silvia; Falzarano, Maria Sofia; Manzati, Elisa; Rimessi, Paola; Fabris, Marina; Selvatici, Rita; Gualandi, Francesca; Neri, Marcella; Fortunato, Fernanda; Foti, Miryam Rosa Stella; Bigoni, Stefania; Gessi, Marco; Vacca, Marcella; Torelli, Silvia; Hayek, Joussef; Ferlini, Alessandra
Biomolecules. May, 2025, Vol. 15 Issue 5
Academic Journal
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 ; Matalonga Borrel, Leslie ; Vissers, Lisenka ; de Voer, Richarda ; Lesca, Gaëtan ; Gayathri, Swethaa Natraj ; Cossee, Mireille ; Perrin, Aurelien ; Bonne, Gisele ; Verdonschot, Job A.J.
In Genetics in Medicine November 2025
Academic Journal
da Rosa, Clarissa Alves; Ribeiro, Bruno R.; Bejarano, Vanesa; Puertas, Fernando Henrique; Bocchiglieri, Adriana; dos Santos Barbosa, Adriana Loeser; Chiarello, Adriano Garcia; Paglia, Adriano Pereira; Pereira, Adriele Aparecida; de Souza Moreira, Adryelle Francisca; de Souza, Agnis Cristiane; Pellegrin, Aiesca; Gatica, Ailin; Medeiro, Akyllan Zoppi; Pereira, Alan Deivid; Braz, Alan Gerhardt; Yanosky, Alberto; Valenzuela, Alejandro Eduardo Jorge; Bertassoni, Alessandra; dos Santos Venturinido Prado, Alessandra; Nava, Alessandra Ferreira Dales; Rocha, Alessandro; Bovo, Alex Augusto Abreu; Bager, Alex; Cravino, Alexandra; dos Santos Pires, Alexandra; Martensen, Alexandre Camargo; Filippini, Alexandre; Percequillo, Alexandre Reis; Vogliotti, Alexandre; Antunes, Alexsander Zamorano; de Oliveira, Aline Cristina Leite; da Silva de Oliveira, Allan Jefferson; Devlin, Allison; de Paula, Almir; Ferreira, Aluane Silva; García-Olaechea, Alvaro; Subalusky, Amanda; Sánchez, Amadeo; de Aquino, Ana Carla Medeiros Morato; Srbek-Araujo, Ana Carolina; Gonçales, Amane Paldês; Araújo, Ana Caroline L.; Gozzi, Ana Cecilia; Ochoa, Ana Cecilia; de Oliveira, Ana Cristina Mendes; Lacerda, Ana Cristyna Reis; Francisco, Ana Karina; de Oliveira Paschoal, Ana Maria; Gomes, Ana Paula Nascimento; Potrich, Ana Paula; Olímpio, Ana Priscila Medeiros; Rojas, Ana; Meiga, Ana Yoko Ykeuti; de Almeida Jácomo, Anah Tereza; Calaça, Analice Maria; Feijó, Anderson; Pagoto, Anderson; Miranda, André Borja; Alonso, André Chein; Barreto-Lima, André Felipe; Lanna, Andre; Luza, André Luís; Camilo, André Restel; Tavares, André; Nunes, André Valle; Kindel, Andreas; de Miguel, Andrés; Gatti, Andressa; Nobre, Andrezza Bellotto; da Conceição Campêlo, Anielise; de Albuquerque, Anna Carolina Figueiredo; de la Torre, Antonio; Mangione, Antonio; Pontes, Antonio Rossano Mendes; Fernandes, Arthur Soares; de Almeida Felicio, Artur Luiz; Ferreguetti, Atilla Colombo; Marcili, Arlei; Piratelli, Augusto João; do Nascimento, Ariel Guilherme Santos; dos Santos, Áureo Banhos; Rosa, Beatris Felipe; Cezila, Beatriz Azevedo; de Thoisy, Benoit; Ingberman, Bianca; Köhler, Bianca; Morais, Bianca Cruz; Gómez-Valencia, Bibiana; de Camargo, Bruna Bertagni; Bezerra, Bruna M.; Tamasauskas, Bruna; Campos, Bruno A. T. Parahyba; Kubiak, Bruno Busnello; Saranholi, Bruno Henrique; Nakagawa, Bruno K.; Leles, Bruno Pereira; Lim, Burton K.; Mendes, Calebe Pereira; Islas, Camila Alvez; Aoki, Camila; Devids, Camila Cantagallo; Figueiredo, Camila; de Abreu, Camila Matias Goes; Oliveira, Camila Raquel Silva; Cassano, Camila Righetto; Lugarini, Camile; Caputo, Carin; Gestich, Carla Cristina; Tedesco, Carla Denise; de Vera y Conde, Carla Fabiane; Hegel, Carla Grasiele Zanin; Kasper, Carlos Benhur; De Angelo, Carlos; Grelle, Carlos E. V.; Fragoso, Carlos Eduardo; Esbérard, Carlos Eduardo Lustosa; Rocha, Carlos Frederico Duarte; Verona, Carlos Eduardo; Salvador, Carlos Henrique; Vieira, Carlos Leonardo; Abrahão, Carlos Roberto; Brocardo, Carlos Rodrigo; Fieker, Carolline Zatta; Braga, Caryne; Lalinde, Catalina Sánchez; Bueno, Cecília; Ikuta, Cássia Yumi; Luna, Cecília Licarião Barreto; Cestari, Cesar; Del Vechio Koike, Christine; Knogge, Christoph; Anderson, Christopher Brian; Hurtado, Cindy M.; de Oliveira, Cintia Ferreira Antunes; Tellaeche, Cintia; Cesário, Clarice Silva; Costa, Claudia Guimarães; Kanda, Claudia Zukeran; Costa, Sebastián Andrés; Seixas, Cristiana Simão; Trinca, Cristiano Trapé; López-Fuerte, Cristina F.; da Cunha, Cristina Jaques; Ribas, Cynthia Doutel; Santos, Cyntia Cavalcante; Buscariol, Daiane; Carreira, Daiane; do Nascimento, Daiane Chaves; Carvalho, Danianderson Rodrigues; da Silva Ferraz, Daniel; Galiano, Daniel; Homem, Daniel Henrique; Jesús-Espinosa, Daniel; Bôlla, Daniela A. S.; Moreno, Daniele Janina; de Oliveira Moreira, Danielle; Ramos, Danielle Leal; de Amorim, Danilo Angelucci; Barros-Battesti, Darci Moraes; Lopez, David Echeverri; Tavares, Davi Castro; Post, David M.; Couto, Dayvid Rodrigues; Patrocínio, Dennis Nogarolli; Carvalho, Diana Letícia Kruger Pacheco; Silva, Diego Afonso; Córdoba, Diego; Queirolo, Diego; Varela, Diego; de Oliveira, Dilmar Alberto Goncalves; Casanova, Diogo Cavenague; de Matos Dias, Douglas; da Silva, Douglas Machado; Barbier, Eder; Rivadeneira, Edgar Federico; Alexandrino, Eduardo; Carrano, Eduardo; Santos, Eduardo Marques; Venticinque, Eduardo Martins; Hernández-Pérez, Edwin; da Fonseca Casazza, Egberto; Anderson, Elizabeth P.; da Costa Fraga, Elmary; de Lima, Elson Fernandes; D’Bastiani, Elvira; Vieira, Emerson Monteiro; Guijosa-Guadarrama, Emiliano; González, Enrique M.; Maggiorini, Erica Vanessa; de Aguiar, Erick Francisco Silva; Martínez-Nambo, Erik Daniel; Castro, Érika Paula; de la Peña-Cuéllar, Erika; Pedó, Ezequiel; de Melo, Fabiana Cristina S. Alves; Rocha, Fabiana Lopes; Fonseca, Fabiana Luques; Girardi, Fabiane; de Melo, Fabiano Rodrigues; de Oliveira Roque, Fábio; Ferreira, Fabíola Keesen; Peters, Felipe Bortolotto; Fantacini, Felipe Moreli; Pedrosa, Felipe; da Silva, Felipe Pessoa; Vélez-García, Felipe; Abra, Fernanda D.; de Azevedo, Fernanda Cavalcanti; da Silva, Fernanda Guedes; Neri, Fernanda Maria; Teixeira, Fernanda Zimmermann; dos Santos Fernandez, Fernando Antonio; Carvalho, Fernando; Passos, Fernandode Camargo; de Castro Jacinavicius, Fernando; Ferreira, Fernando; de Pinho, Fernando Ferreira; Gonçalves, Fernando; Martins, Fernando Ibanez; Lima, Fernando; Contreras-Moreno, Fernando M.; Ribeiro, Fernando Silvério; Tortato, Fernando; Patel, Filipe M.; Caruso, Flavia; Tirelli, Flávia Pereira; Rodrigues, Flávio Henrique Guimarães; Ubaid, Flávio Kulaif; Palmeira, Francesca Belem Lopes; Neto, Francisco Grotta; Gabriel, Francisco Homem; de Souza, Franco Leandro; da Veiga da Costa, Francys E.; de Aguiar, Gabriel Lima; Lemos, Frederico Gemesio; Magezi, Gabriel S.; Di Panigai, Gabriel Ferreira Vianna; Hofmann, Gabriel Selbach; Heliodoro, Gabriela; Graviola, Gabriela Rosa; Beca, Gabrielle; de Andrade, Gabrielle Ribeiro; Romero, Germán Jiménez; Duarte, Gabriela Teixeira; Melo, Geruza Leal; Dierings, Geverson Luiz; Sabino-Santos, Gilberto; de Oliveira, Geovana Linhares; Santana, Gindomar Gomes; Ciocheti, Giordano; Zanirato, Gisele Lamberti; Alves, Giselle Bastos; Batista, Graziele Oliveira; Behling, Greici Maia; Ferreira, Guilherme Braga; da Rocha, Guilherme Casoni; Lessa, Gisele; Mourão, Guilherme; Maras, Gustavo A.; da Costa Toledo, Gustavo Alves; Gonsioroski, Gustavo; Canale, Gustavo R.; Schuchmann, Karl-Ludwig; Sebastião, Harley; do Prado, Helena Alves; de Godoy Bergallo, Helena; Secco, Helio Kinast Cruz; Roig, Henrique Llacer; Rajão, Henrique; Carlos, Henrique Santiago Alberto; de Oliveira B. Duarte, Herbert; Ermenegildo, Hiago; de Jesus Pena, Hilda Fátima; Júnior, Hilton Entringer; Neto, Hipólito Ferreira Paulino; de Macedo Lemos, Hudson; del Castillo, Hugo; Fernandes-Ferreira, Hugo; Banquero, Hugo Ignacio Coitiño; Roesler, Ignacio; Ribeiro, Igor Kintopp; Coelho, Igor Pfeifer; Lima, Ingrid M. S.; Bechara, Isabel Muniz; Lermen, Isabel Salgueiro; Méndez, Isac Mella; Schuck, Gabriela; Esperandio, Isadora Beraldi; de Oliveria Silva, Ita; Mourthe, Italo; Oliveira, Igor; Bernardi, Itiberê Piaia; Miller, Jacqueline R.; Marinho-Filho, Jader; Zocche, Jairo José; Russell, James Charles; Seibert, Jardel Brandão; Hinojosa, Javier; Vitule, Jean R. S.; Thompson, Jeffrey J.; Silva, Jean Carlos Ramos; Gouvea, Jéssica Abonízio; Santos, Jean Pierre; de Faria Falcão, Jéssica Caroline; Castro-Prieto, Jessica; Ferreira, Jéssica Paloma; Pincheira-Ulbrich, Jimmy; Nodari, Joana Zorzal; Gebin, João Carlos Zecchini; Giovanelli, João Gabriel Ribeiro; Miranda, João M. D.; Souza-Alves, João Pedro; de Almeida Marins, João Rafael Gomes; Costa, Jociel Ferreira; Sponchiado, Jonas; de Souza, Jonathas Linds; Gallo, Jorge Alberto; Cherem, Jorge José; Cordeiro, José Luís Passos; Duarte, José Maurício Barbanti; Dantas, José Oliveira; de Matos, José Roberto; Pires, José Salatiel Rodrigues; Lanfranco, Juan Andrés Martínez; de la Cruz Godoy, Juan Camilo; Rudolf, Juan Carlos; Parrish, Juan Felipe Reátiga; Tellarini, Juan Francisco; Peña-Mondragón, Juan L.; Arrabal, Juan Pablo; Reppucci, Juan; Ruiz-Esparza, Juan; Beduschi, Julia; de Faria Oshima, Júlia Emi; Ribeiro, Juliana Fernandes; de Almeida Rocha, Juliana Monteiro; Neto, José Soares Ferreira; dos Santos, Juliana Silveira; Pereira-Ribeiro, Juliane; Zanoni, Juliani Bruna; Bogoni, Juliano André; Ferreira, Juliana Rodrigues; Bicca-Marques, Júlio César; Pacheco, Julio Javier Chacón; de Oliveira Scarascia, Pietro; Guidoni-Martins, Karlo Gregório; Burs, Kathrin; de Barros Ferraz, Katia Maria Paschoaletto Micchi; Pisciotta, Kátia Regina; Von Kossel de Andrade Silva, Katyucha; Juarez, Keila MacFadem; de 1a Cruz-Félix, Keynes; de Morais, Kimberly Danielle Rodrigues; Candelária, Lana Pavão; Fornitano, Larissa; Bailey, Larissa Lynn; Gonçalves, Larissa Oliveira; Fasola, Laura; León, Laura Johanna Nova; de Andrade, Layla Reis; de Oliveira Marques, Leandro; Macedo, Leandro; Moreira, Leandro Santana; Silveira, Leandro; de Carvalho Oliveira, Leonardo; da Silva, Leonardo Henrique; Jerusalinsky, Leandro; La Serra, Leonardo; Costa, Leonardo Marques; Sartorello, Leonardo Rodrigues; Munhoes, Leticia Prado; Oliveira-Silva, Liany Regina B.; de Pina, Ligia Ferracine; Bonjorne, Lilian; Rampim, Lilian Elaine; Sales, Lilian P.; da Silva, Lucas Gonçalves; Quintilham, Lucas Lacerda Toth; Perillo, Lucas Neves; Rodríguez-Planes, Lucía Inés; Martín, Lucía; Araújo, Luciana Souza; Tiepolo, Liliani Marilia; Silva, Luciana Zago; Loaiza, Lina Marcela García; de Alagão Querido, Luciano Carramaschi; da Silva, Luciano Ferreira; La Sala, Luciano Francisco; Bopp, Luciano Tessare; Hufnagel, Ludmila; de Oliveira, Luiz Flamarion Barbosa; Oliveira-Santos, Luiz Gustavo Rodrigues; Lyra, Luiz Henrique; Guimarães, Luiza Neves; Segura, Luz Fernanda Jimenez; de Sousa, Luziene Conceição; Möcklinghoff, Lydia; Guichón, M. Laura; de la Maza, Javier; Barrios-Garcia, M. 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Javier; Schröck, Evelin; Rump, Andreas; Mei, Davide; Vetro, Annalisa; Balestrini, Simona; Guerrini, Renzo; Chinnery, Patrick F.; Ratnaike, Thiloka; Schon, Katherine; Maver, Ales; Peterlin, Borut; Münchau, Alexander; Lohmann, Katja; Herzog, Rebecca; Pauly, Martje; May, Patrick; Beeson, David; Cossins, Judith; Furini, Simone; Fallerini, Chiara; Benetti, Elisa; Afenjar, Alexandra; Goldenberg, Alice; Masurel, Alice; Phan, Alice; Dieux-Coeslier, Anne; Fargeot, Anne; Guerrot, Anne-Marie; Toutain, Annick; Molin, Arnaud; Sorlin, Arthur; Putoux, Audrey; Jouret, Béatrice; Laudier, Béatrice; Demeer, Bénédicte; Doray, Bérénice; Bonniaud, Bertille; Isidor, Bertrand; Gilbert-Dussardier, Brigitte; Leheup, Bruno; Reversade, Bruno; Paul, Carle; Vincent-Delorme, Catherine; Neiva, Cecilia; Poirsier, Céline; Quélin, Chloé; Chiaverini, Christine; Coubes, Christine; Francannet, Christine; Colson, Cindy; Desplantes, Claire; Wells, Constance; Goizet, Cyril; Sanlaville, Damien; Amram, Daniel; Lehalle, Daphné; Geneviève, David; Gaillard, Dominique; Zivi, Einat; Sarrazin, Elisabeth; Steichen, Elisabeth; Schaefer, Élise; Lacaze, Elodie; Jacquemin, Emmanuel; Bongers, Ernie; Kilic, Esra; Colin, Estelle; Giuliano, Fabienne; Prieur, Fabienne; Laffargue, Fanny; Morice-Picard, Fanny; Petit, Florence; Cartault, François; Feillet, François; Baujat, Geneviève; Morin, Gilles; Diene, Gwenaëlle; Journel, Hubert; Perthus, Isabelle; Lespinasse, James; Alessandri, Jean-Luc; Amiel, Jeanne; Martinovic, Jelena; Delanne, Julian; Albuisson, Juliette; Lambert, Laëtitia; Perrin, Laurence; Ousager, Lilian Bomme; Van Maldergem, Lionel; Pinson, Lucile; Ruaud, Lyse; Samimi, Mahtab; Bournez, Marie; Bonnet-Dupeyron, Marie Noëlle; Vincent, Marie; Jacquemont, Marie-Line; Cordier-Alex, Marie-Pierre; Gérard-Blanluet, Marion; Willems, Marjolaine; Spodenkiewicz, Marta; Doco-Fenzy, Martine; Rossi, Massimiliano; Renaud, Mathilde; Fradin, Mélanie; Mathieu, Michèle; Holder-Espinasse, Muriel H.; Houcinat, Nada; Hanna, Nadine; Leperrier, Nathalie; Chassaing, Nicolas; Philip, Nicole; Boute, Odile; Van Kien, Philippe Khau; Parent, Philippe; Bitoun, Pierre; Sarda, Pierre; Vabres, Pierre; Jouk, Pierre-Simon; Touraine, Renaud; El Chehadeh, Salima; Whalen, Sandra; Marlin, Sandrine; Passemard, Sandrine; Grotto, Sarah; Bellanger, Séverine Audebert; Blesson, Sophie; Nambot, Sophie; Naudion, Sophie; Lyonnet, Stanislas; Odent, Sylvie; Attie-Bitach, Tania; Busa, Tiffany; Drouin-Garraud, Valérie; Layet, Valérie; Bizaoui, Varoona; Cusin, Véronica; Capri, Yline; Alembik, Yves; Jean-Marçais, Nolwenn ; López-Martín, Estrella ; Macek, Milan ; Mencarelli, Maria Antonietta ; Moutton, Sébastien ; Pfundt, Rolph ; Safraou, Hana ; Thauvin-Robinet, Christel ; Thevenon, Julien ; Tran Mau-Them, Frédéric ; de Vries, Bert B.A. ; Willemsen, Marjolein H. ; Philippe, Christophe
In Genetics in Medicine April 2023 25(4)
Academic Journal
Colucci, Fabiana; Di Bella, Daniela; Pisciotta, Chiara; Sarto, Elisa; Gualandi, Francesca; Neri, Marcella; Ferlini, Alessandra; Contaldi, Elena; Pugliatti, Maura; Pareyson, Davide; Sensi, Mariachiara
Neurological Sciences. 43:5095-5098
Academic Journal
Johansson Lennart; Laurie Steve; Spalding Dylan; Gibson Spencer; Ruvolo David; Thomas Coline; Piscia Davide; de Andrade Fernanda; Been Gerieke; Bijlsma Marieke; Brunner Han; Cimerman Sandi; Dizjikan Farid Yavari; Ellwanger Kornelia; Fernandez Marcos; Freeberg Mallory; van de Geijn Gert-Jan; Kanninga Roan; Maddi Vatsalya; Mehtarizadeh Mehdi; Neerincx Pieter; Ossowski Stephan; Rath Ana; Roelofs-Prins Dieuwke; Stok-Benjamins Marloes; van der Velde K Joeri; Veal Colin; van der Vries Gerben; Wadsley Marc; Warren Gregory; Zurek Birte; Keane Thomas; Graessner Holm; Beltran Serg; Swertz Morris A; Brookes Anthony; Riess Olaf; Haack Tobias; Demidov German; Sturm Marc; Schulze-Hentrich Julia M; Schüle Rebecca; Xu Jishu; Kessler Christoph; Kellner Melanie; Synofzik Matthis; Wilke Carlo; Traschütz Andreas; Schöls Ludger; Hengel Holger; Lerche Holger; Kegele Josua; Heutink Peter; Scheffer Hans; Hoogerbrugge Nicoline; Hoischen Alexander; 't Hoen Peter; Vissers Lisenka ELM; 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; Riaz Umar; Warren Greg; 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; Matalonga Leslie; Papakonstantinou Anastasios; Bullich Gemma; Corvo Alberto; Fernandez-Callejo Marcos; Hernández Carles; Picó Daniel; Paramonov Ida; Lochmüller Hanns; Gumus Gulcin; Bros-Facer Virginie; 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; 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; Garcia-Pelaez Jose; Barbosa-Matos Rita; José Celina São; Ferreira Marta; Gullo Irene; Fernandes Susana; Garrido Luzia; Ferreira Pedro; Carneiro Fátima; van der Velde Joeri K; Neerincx Pieter B; Abbott Kristin M; Frederikse Wilhemina S Kerstjens; Zonneveld-Huijssoon Eveline; 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; 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 Isabell; 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
Gigascience
Gigascience, 13, pp. giae058
GigaScience
Solve-RD consortium, Johansson, L F, Laurie, S, Spalding, D, Gibson, S, Ruvolo, D, Thomas, C, Piscia, D, De Andrade, F, Been, G, Bijlsma, M, Brunner, H, Cimerman, S, Dizjikan, F Y, Ellwanger, K, Fernandez, M, Freeberg, M, Van De Geijn, G J, Kanninga, R, Maddi, V, Mehtarizadeh, M, Neerincx, P, Ossowski, S, Rath, A, Roelofs-Prins, D, Stok-Benjamins, M, Van Der Velde, K J, Veal, C, Van Der Vries, G, Wadsley, M, Warren, G, Zurek, B, Keane, T, Graessner, H, Beltran, S, Swertz, M A, Brookes, A J, Riess, O, Haack, T B, Demidov, G, Sturm, M, Clayton-Smith, J, Banka, S, Alexander, E, Jackson, A, Robinson, P, Costa, A, Metcalfe, A, Thompson, R, Gao, F & May, P 2024, 'An interconnected data infrastructure to support large-scale rare disease research', GigaScience, vol. 13, giae058. https://doi.org/10.1093/gigascience/giae058
Gigascience, 13, pp. giae058
GigaScience
Solve-RD consortium, Johansson, L F, Laurie, S, Spalding, D, Gibson, S, Ruvolo, D, Thomas, C, Piscia, D, De Andrade, F, Been, G, Bijlsma, M, Brunner, H, Cimerman, S, Dizjikan, F Y, Ellwanger, K, Fernandez, M, Freeberg, M, Van De Geijn, G J, Kanninga, R, Maddi, V, Mehtarizadeh, M, Neerincx, P, Ossowski, S, Rath, A, Roelofs-Prins, D, Stok-Benjamins, M, Van Der Velde, K J, Veal, C, Van Der Vries, G, Wadsley, M, Warren, G, Zurek, B, Keane, T, Graessner, H, Beltran, S, Swertz, M A, Brookes, A J, Riess, O, Haack, T B, Demidov, G, Sturm, M, Clayton-Smith, J, Banka, S, Alexander, E, Jackson, A, Robinson, P, Costa, A, Metcalfe, A, Thompson, R, Gao, F & May, P 2024, 'An interconnected data infrastructure to support large-scale rare disease research', GigaScience, vol. 13, giae058. https://doi.org/10.1093/gigascience/giae058
Academic Journal
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
Orphanet Journal of Rare Diseases. 18(1)
Academic Journal
Fortugno, Paola; Monetta, Rosanna; Belli, Manuel; Botti, Elisabetta; Angelucci, Francesco; Palmerini, Maria Grazia; Nottola, Stefania Annarita; De Luca, Chiara; Ceccarini, Marina; Salvatore, Marco; Bianchi, Luca; Macioce, Pompeo; Teson, Massimo; Ricci, Francesco; Taruscio, Domenica; Censi, Federica; Polizzi, Agata; Mallozzi, Cinzia; Novelli, Giuseppe; Sangiuolo, Federica; Daina, Erica; Remuzzi, Giuseppe; Ferlini, Alessandra; Neri, Marcella; Roccatello, Dario; Baldovino, Simone; Menegatti, Elisa; Sciascia, Savino; Dariol, Maria Rosaria; Castori, Marco; Priolo, Manuela; Macchiarelli, Guido; Didona, Biagio; Costanzo, Antonio; Castiglia, Daniele; Brancati, Francesco; null, null
Human Molecular Genetics. 31:2535-2547
Academic Journal
Neri, Marcella; Braccia, Arianna; Panteghini, Celeste; Garavaglia, Barbara; Gualandi, Francesca; Cavallo, Michele Alessandro; Scerrati, Alba; Ferlini, Alessandra; Sensi, Mariachiara
Parkinsonism & Related Disorders. 92:72-75
Academic Journal
Matalonga, Leslie; Hernández-Ferrer, Carles; DITF-ITHACA, Solve-RD; Verloes, Alain; Vissers, Lisenka; Vitobello, Antonio; Votypka, Pavel; Vyshka, Klea; Zurek, Birte; Baets, Jonathan; Beijer, Danique; Bonne, Gisèle; Cohen, Enzo; DITF-euroNMD, Solve-RD; Cossins, Judith; Evangelista, Teresinha; Ferlini, Alessandra; Hackman, Peter; Hanna, Michael G; Horvath, Rita; Houlden, Henry; Johari, Mridul; Lau, Jarred; Lochmüller, Hanns; DITF-RND, Solve-RD; Macken, William L; Musacchia, Francesco; Nascimento, Andres; Natera-de Benito, Daniel; Nigro, Vincenzo; Piluso, Giulio; Pini, Veronica; Pitceathly, Robert D S; Polavarapu, Kiran; Cruz, Pedro M Rodriguez; Tonda, Raul; Sarkozy, Anna; Savarese, Marco; Selvatici, Rita; Thompson, Rachel; Udd, Bjarne; Van de Vondel, Liedewei; Vandrovcova, Jana; Zaharieva, Irina; Balicza, Peter; Laurie, Steven; Chinnery, Patrick; Dürr, Alexandra; Haack, Tobias; Hengel, Holger; Kamsteeg, Erik-Jan; Kamsteeg, Christoph; Lohmann, Katja; Macaya, Alfons; Marcé-Grau, Anna; Fernandez-Callejo, Marcos; Maver, Ales; Molnar, Judit; Münchau, Alexander; Peterlin, Borut; Riess, Olaf; Schöls, Ludger; Schüle-Freyer, Rebecca; Stevanin, Giovanni; Synofzik, Matthis; Timmerman, Vincent; Picó, Daniel; van de Warrenburg, Bart; van Os, Nienke; Wayand, Melanie; Wilke, Carlo; Haack, Tobias B; Graessner, Holm; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Garcia-Linares, Carles; Sturm, Marc; Schulze-Hentrich, Julia M; Schüle, Rebecca; Kessler, Christoph; Heutink, Peter; Brunner, Han; Scheffer, Hans; Papakonstantinou, Anastasios; Hoogerbrugge, Nicoline; 't Hoen, Peter A C; Steyaert, Wouter; Sablauskas, Karolis; Te Paske, Iris; Janssen, Erik; Steehouwer, Marloes; Yaldiz, Burcu; Corvó, Alberto; Brookes, Anthony J; Veal, Colin; Gibson, Spencer; Wadsley, Marc; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Dizjikan, Farid Yavari; Shorter, Thomas; Straub, Volker; Piscia, Davide; Joshi, Ricky; Bettolo, Chiara Marini; Specht, Sabine; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Duffourd, Yannis; Tisserant, Emilie; Diez, Hector; Bruel, Ange-Line; Peyron, Christine; Pélissier, Aurore; Beltran, Sergi; Gut, Ivo Glynne; Bullich, Gemma; Gut, Ivo; Corvo, Alberto; Garcia, Carles; Hernández, Carles; Paramonov, Ida; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hoischen, Alexander; Hanauer, Marc; Olry, Annie; Lagorce, David; Havrylenko, Svitlana; Izem, Katia; Rigour, Fanny; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Allamand, Valérie; Nelson, Isabelle; Yaou, Rabah Ben; Metay, Corinne; Eymard, Bruno; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Kremlik, Vlastimil; Parkinson, Helen; Keane, Thomas; Consortium, Solve-RD; Spalding, Dylan; Senf, Alexander; Danis, Daniel; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Reilly, Mary; Muntoni, Francesco; de Jonghe, Peter; Banfi, Sandro; Torella, Annalaura; Cuesta, Isabel; Rossi, Rachele; Neri, Marcella; Aretz, Stefan; Spier, Isabel; 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 Vries, Gerben; Neerincx, Pieter B; group, Solve-RD SNV-indel working; Denommé-Pichon, Anne-Sophie; Roelofs-Prins, Dieuwke; Köhler, Sebastian; Metcalfe, Alison; Rooryck, Caroline; Trimouille, Aurelien; Castello, Raffaele; Morleo, Manuela; Varavallo, Alessandra; De la Paz, Manuel Posada; Sánchez, Eva Bermejo; Martín, Estrella López; Delgado, Beatriz Martínez; de la Rosa, F Javier Alonso García; Radio, Francesca Clementina; Tartaglia, Marco; Renieri, Alessandra; Benetti, Elisa; Molnar, Maria Judit; Gilissen, Christian; Herzog, Rebecca; Pauly, Martje; Osorio, Andres Nascimiento; de Benito, Daniel Natera; Beeson, David; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Schröck, Evelin; Rump, Andreas; Li, Shuang; Prasanth, Sivakumar; Robinson, Peter; van der Velde, Joeri K; de Voer, Richarda M; Evans, Gareth; Sommer, Anna Katharina; Töpf, Ana; Paske, Iris Te; Tischkowitz, Marc; Casari, Giorgio; Ciolfi, Andrea; Dallapiccola, Bruno; de Boer, Elke; Vissers, Lisenka E L M; Hammarsjö, Anna; Havlovicova, Marketa; Hugon, Anne; de Voer, Richarda; Kleefstra, Tjitske; Lindstrand, Anna; López-Martín, Estrella; Nigro, Vicenzo; Nordgren, Ann; Pettersson, Maria; Pinelli, Michele; Pizzi, Simone; DITF-GENTURIS, Solve-RD; Posada, Manuel; Ryba, Lukas; Schwarz, Martin; Trimouille, Aurélien
European journal of human genetics 29(9), 1466-1469 (2021). doi:10.1038/s41431-021-00934-6
Solve-RD SNV-indel working group, Solve-RD DITF-GENTURIS, Solve-RD DITF-ITHACA, Solve-RD DITF-euroNMD, Solve-RD-DITF-RND & The Solve-RD Consortium 2021, 'Correction to : Solving patients with rare diseases through programmatic reanalysis of genome-phenome data ', European Journal of Human Genetics, vol. 29, no. 9, pp. 1466-1469. https://doi.org/10.1038/s41431-021-00934-6
Solve-RD SNV-indel working group, Solve-RD DITF-GENTURIS, Solve-RD DITF-ITHACA, Solve-RD DITF-euroNMD, Solve-RD-DITF-RND & The Solve-RD Consortium 2021, 'Correction to : Solving patients with rare diseases through programmatic reanalysis of genome-phenome data ', European Journal of Human Genetics, vol. 29, no. 9, pp. 1466-1469. https://doi.org/10.1038/s41431-021-00934-6
Academic Journal
Matalonga, Leslie; Hernández-Ferrer, Carles; DITF-ITHACA, Solve-RD; Verloes, Alain; Vissers, Lisenka; Vitobello, Antonio; Votypka, Pavel; Vyshka, Klea; Zurek, Birte; Baets, Jonathan; Beijer, Danique; Bonne, Gisèle; Cohen, Enzo; DITF-euroNMD, Solve-RD; Cossins, Judith; Evangelista, Teresinha; Ferlini, Alessandra; Hackman, Peter; Hanna, Michael G; Horvath, Rita; Houlden, Henry; Johari, Mridul; Lau, Jarred; Lochmüller, Hanns; DITF-RND, Solve-RD; Macken, William L; Musacchia, Francesco; Nascimento, Andres; Natera-de Benito, Daniel; Nigro, Vincenzo; Piluso, Giulio; Pini, Veronica; Pitceathly, Robert D S; Polavarapu, Kiran; Cruz, Pedro M Rodriguez; Tonda, Raul; Sarkozy, Anna; Savarese, Marco; Selvatici, Rita; Thompson, Rachel; Udd, Bjarne; Van de Vondel, Liedewei; Vandrovcova, Jana; Zaharieva, Irina; Balicza, Peter; Laurie, Steven; Chinnery, Patrick; Dürr, Alexandra; Haack, Tobias; Hengel, Holger; Kamsteeg, Erik-Jan; Kamsteeg, Christoph; Lohmann, Katja; Macaya, Alfons; Marcé-Grau, Anna; Fernandez-Callejo, Marcos; Maver, Ales; Molnar, Judit; Münchau, Alexander; Peterlin, Borut; Riess, Olaf; Schöls, Ludger; Schüle-Freyer, Rebecca; Stevanin, Giovanni; Synofzik, Matthis; Timmerman, Vincent; Picó, Daniel; van de Warrenburg, Bart; van Os, Nienke; Wayand, Melanie; Wilke, Carlo; Haack, Tobias B; Graessner, Holm; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Garcia-Linares, Carles; Sturm, Marc; Schulze-Hentrich, Julia M; Kessler, Christoph; Heutink, Peter; Brunner, Han; Scheffer, Hans; Papakonstantinou, Anastasios; Hoogerbrugge, Nicoline; 't Hoen, Peter A C; Steyaert, Wouter; Sablauskas, Karolis; Te Paske, Iris; Janssen, Erik; Steehouwer, Marloes; Yaldiz, Burcu; Corvó, Alberto; Brookes, Anthony J; Veal, Colin; Gibson, Spencer; Wadsley, Marc; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Dizjikan, Farid Yavari; Shorter, Thomas; Straub, Volker; Piscia, Davide; Joshi, Ricky; Bettolo, Chiara Marini; Specht, Sabine; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Duffourd, Yannis; Tisserant, Emilie; Diez, Hector; Bruel, Ange-Line; Peyron, Christine; Pélissier, Aurore; Beltran, Sergi; Gut, Ivo Glynne; Bullich, Gemma; Gut, Ivo; Corvo, Alberto; Garcia, Carles; Hernández, Carles; Paramonov, Ida; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hoischen, Alexander; Hanauer, Marc; Olry, Annie; Lagorce, David; Havrylenko, Svitlana; Izem, Katia; Rigour, Fanny; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Allamand, Valérie; Nelson, Isabelle; Yaou, Rabah Ben; Metay, Corinne; Eymard, Bruno; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Kremlik, Vlastimil; Parkinson, Helen; Keane, Thomas; Consortia, Solve-RD; Spalding, Dylan; Senf, Alexander; Danis, Daniel; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Reilly, Mary; Muntoni, Francesco; de Jonghe, Peter; Banfi, Sandro; Torella, Annalaura; Cuesta, Isabel; Rossi, Rachele; Neri, Marcella; Aretz, Stefan; Spier, Isabel; 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 Vries, Gerben; Neerincx, Pieter B; group, Solve-RD SNV-indel working; Denommé-Pichon, Anne-Sophie; Roelofs-Prins, Dieuwke; Köhler, Sebastian; Metcalfe, Alison; Rooryck, Caroline; Trimouille, Aurelien; Castello, Raffaele; Morleo, Manuela; Varavallo, Alessandra; De la Paz, Manuel Posada; Sánchez, Eva Bermejo; Martín, Estrella López; Delgado, Beatriz Martínez; de la Rosa, F Javier Alonso García; Radio, Francesca Clementina; Tartaglia, Marco; Renieri, Alessandra; Benetti, Elisa; Molnar, Maria Judit; Gilissen, Christian; Herzog, Rebecca; Pauly, Martje; Osorio, Andres Nascimiento; de Benito, Daniel Natera; Beeson, David; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Schröck, Evelin; Rump, Andreas; Li, Shuang; Prasanth, Sivakumar; Robinson, Peter; van der Velde, Joeri K; de Voer, Richarda M; Evans, Gareth; Sommer, Anna Katharina; Töpf, Ana; Paske, Iris Te; Tischkowitz, Marc; Casari, Giorgio; Ciolfi, Andrea; Dallapiccola, Bruno; de Boer, Elke; Vissers, Lisenka E L M; Hammarsjö, Anna; Havlovicova, Marketa; Hugon, Anne; de Voer, Richarda; Kleefstra, Tjitske; Lindstrand, Anna; López-Martín, Estrella; Nigro, Vicenzo; Nordgren, Ann; Pettersson, Maria; Pinelli, Michele; Pizzi, Simone; DITF-GENTURIS, Solve-RD; Posada, Manuel; Ryba, Lukas; Schwarz, Martin; Trimouille, Aurélien
Eur J Hum Genet
Repisalud
Instituto de Salud Carlos III (ISCIII)
European journal of human genetics 29(9), 1337-1347 (2021). doi:10.1038/s41431-021-00852-7
European Journal of Human Genetics, 29, 9, pp. 1337-1347
European journal of human genetics
Repisalud
Instituto de Salud Carlos III (ISCIII)
European journal of human genetics 29(9), 1337-1347 (2021). doi:10.1038/s41431-021-00852-7
European Journal of Human Genetics, 29, 9, pp. 1337-1347
European journal of human genetics
Academic Journal
Schüle, Rebecca; Timmann, Dagmar; Erasmus, Corrie E.; Reichbauer, Jennifer; Wayand, Melanie; null, null; Baets, Jonathan; Balicza, Peter; Chinnery, Patrick; Dürr, Alexandra; Haack, Tobias; Hengel, Holger; Horvath, Rita; Houlden, Henry; Kamsteeg, Erik-Jan; Kamsteeg, Christoph; Lohmann, Katja; Macaya, Alfons; Marcé-Grau, Anna; Maver, Ales; Molnar, Judit; Münchau, Alexander; Peterlin, Borut; Riess, Olaf; Schöls, Ludger; Stevanin, Giovanni; Synofzik, Matthis; Timmerman, Vincent; van de Warrenburg, Bart; van Os, Nienke; Vandrovcova, Jana; Wilke, Carlo; Bevot, Andrea; Zuchner, Stephan; Beltran, Sergi; Laurie, Steven; Matalonga, Leslie; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Sturm, Marc; Schulze-Hentrich, Julia M.; 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.; 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; Gut, Ivo Glynne; Piscia, Davide; 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; 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; Kremlik, Vlastimil; Parkinson, Helen; Keane, Thomas; Spalding, Dylan; Senf, Alexander; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Reilly, Mary; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; 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; de la Rosa, F. Javier Alonso García; Ciolfi, Andrea; Dallapiccola, Bruno; Pizzi, Simone; Radio, Francesca Clementina; Tartaglia, Marco; Renieri, Alessandra; Benetti, Elisa; Molnar, Maria Judit; Herzog, Rebecca; Pauly, Martje; Osorio, Andres Nascimiento; de Benito, Daniel Natera; Thompson, Rachel; Polavarapu, Kiran; Beeson, David; Cossins, Judith; Cruz, Pedro M. Rodriguez; Hackman, Peter; Johari, Mridul; Savarese, Marco; Udd, Bjarne; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Schröck, Evelin; Rump, Andreas
Eur J Hum Genet
European journal of human genetics 29(9), 1332-1336 (2021). doi:10.1038/s41431-021-00901-1
European Journal of Human Genetics, 29, 9, pp. 1332-1336
Solve-RD-DITF-RND & The Solve-RD Consortium 2021, 'Solving unsolved rare neurological diseases—a Solve-RD viewpoint', European Journal of Human Genetics, vol. 29, no. 9, pp. 1332-1336. https://doi.org/10.1038/s41431-021-00901-1
European journal of human genetics
European journal of human genetics 29(9), 1332-1336 (2021). doi:10.1038/s41431-021-00901-1
European Journal of Human Genetics, 29, 9, pp. 1332-1336
Solve-RD-DITF-RND & The Solve-RD Consortium 2021, 'Solving unsolved rare neurological diseases—a Solve-RD viewpoint', European Journal of Human Genetics, vol. 29, no. 9, pp. 1332-1336. https://doi.org/10.1038/s41431-021-00901-1
European journal of human genetics
Academic Journal
Demidov, German; Yaldiz, Burcu; Garcia-Pelaez, José; de Boer, Elke; Schuermans, Nika; Van de Vondel, Liedewei; Paramonov, Ida; Johansson, Lennart F.; Musacchia, Francesco; Benetti, Elisa; Bullich, Gemma; Sablauskas, Karolis; Beltran, Sergi; Gilissen, Christian; Hoischen, Alexander; Ossowski, Stephan; de Voer, Richarda; Lohmann, Katja; Oliveira, Carla; Topf, Ana; Vissers, Lisenka E. L. M.; null, null; Riess, Olaf; Haack, Tobias B.; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Sturm, Marc; Park, Joohyun; Schütz, Leon; Schulze-Hentrich, Julia M.; Schüle, Rebecca; Xu, Jishu; Kellner, Melanie; Resch, Baptist; Kolen, Ingrid; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Beijer, Danique; Heutink, Peter; Schöls, Ludger; Hengel, Holger; Lerche, Holger; Boßelmann, Christian; Kegele, Josua; Lauerer-Braun, Robert; Lauxmann, Stephan; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; 't Hoen, Peter A. C.; Steyaert, Wouter; Kamsteeg, Erik-Jan; van de Warrenburg, Bart; van Os, Nienke; Paske, Iris te; Janssen, Erik; Steehouwer, Marloes; Neveling, Kornelia; van der Sanden, Bart; Sagath, Lydia; Kleefstra, Tjitske; Brookes, Anthony J.; Gibson, Spencer; Riaz, Umar; Warren, Greg; Nalagandla, Sai Anuhya; Wang, Yunze Patrick; Sukumaran, Deepthi; Abadijou, Sadegh; 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; Couturier, Victor; Gut, Ivo Glynne; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Corvo, Alberto; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Codina, Anna Esteve; Dabad, Marc; Gut, Marta; Raineri, Emanuele; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Lagorce, David; Hongnat, Oscar; Chahdil, Maroua; Lucano, Caterina; Lebreton, Emeline; 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; Ryba, Lukáš; Lišková, Petra; Doležalová, Pavla; Krebsová, Alice; Parkinson, Helen; Keane, Thomas; Freeberg, Mallory; Thomas, Coline; Spalding, Dylan; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Efthymiou, Stephanie; Morsy, Heba; Cali, Elisa; Magrinelli, Francesca; Sisodiya, Sanjay M.; Bellampalli, Ravishankara; Moloney, Patrick; Rohrer, Jonathan; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Perry, Luke; Pini, Veronica; Müller, Juliane; Timmerman, Vincent; Baets, Jonathan; de Vries, Geert; De Winter, Jonathan; de Jonghe, Peter; De Ridder, Willem; Weckhuysen, Sarah; Stamberger, Hannah; Millevert, Charissa; Smal, Noor; Nigro, Vincenzo; Morleo, Manuela; Pinelli, Michele; Banfi, Sandro; Torella, Annalaura; Zeuli, Roberta; Zanobio, Mariateresa; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Gualandi, Francesca; Bigoni, Stefania; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer, Anna Katharina; Peters, Sophia; Barbosa-Matos, Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; van der Velde, Joeri K.; van der Vries, Gerben; Neerincx, Pieter B.; Roelofs-Prins, Dieuwke; Ruvolo, David; van Gijn, Marielle; Abbott, Kristin M.; Kerstjens Frederikse, Wilhemina S.; Zonneveld-Huijssoon, Eveline; Köhler, Sebastian; Metcalfe, Alison; Moore, Richard; Verloes, Alain; Drunat, Séverine; Heron, Delphine; Mignot, Cyril; Keren, Boris; de Sainte Agathe, Jean-Madeleine; Jamra, Rami Abou; Abramowicz, Marc; Kiliçarslan, Özge Aksel; Allen, Nicholas; Javier Alonso García de la Rosa, Francisco; Balestrini, Simona; Balicza, Peter; Bartolomaeus, Tobias; Başak, Ayşe Nazl; Masó, Laura Batlle; Beeson, David; Benoit, Valerie; Benson, Katherine; Sánchez, Eva Bermejo; Bijlsma, Emilia K.; Bogaert, Elke; Bourbouli, Mara; Boztug, Kaan; Brohée, Sylvain; Byrne, Susan; Garcia de Oteyza, Andrés Caballero; Capella, Gabriel; Carpancea, Evelina; Cavalleri, Gianpiero; Cazurro-Gutiérrez, Ana; Chinnery, Patrick F.; Cilio, Maria-Roberta; Ciolfi, Andrea; Claeys, Kristl; Colobran, Roger; Cordts, Isabell; Cossins, Judith; Dahan, Karin; Dallapiccola, Bruno; Delanty, Norman; Depienne, Christel; Depondt, Chantal; Dermaut, Bart; Deschauer, Marcus; Desir, Julie; Destrée, Anne; Drakos, Minas; Duerinckx, Sarah; Estevez, Berta; Evangeliou, Athanasios; Fallerini, Chiara; Ferilli, Marco; Furini, Simone; Gagneur, Julien; Ghani, Hamidah; Greally, Marie; Grimbacher, Bodo; Guerrini, Renzo; Hackman, Peter; Haimel, Matthias; Bouveret, Eva Hammar; Hemelsoet, Dimitri; Herzog, Rebecca; Hoffer, Mariette J. V.; Holinski-Feder, Elke; Horvath, Rita; Huibers, Manon; Iacomino, Michele; Johari, Mridul; Kapaki, Elisabeth; Karadurmus, Deniz; Karakaya, Mert; Kokosali, Evgenia; Korff, Christian; Krass, Leon; Lacombe, Didier; Laner, Andreas; Leavis, Helen; Lederer, Damien; Leitão, Elsa; Lochmüller, Hanns; Martín, Estrella López; Luknárová, Rebeka; Macaya, Alfons; Malaichamy, Sivasankar; Marcé-Grau, Anna; Delgado, Beatriz Martínez; Mary, Sandrine; Masclaux, Frédéric; Mathioudakis, Lambros; Maver, Ales; May, Patrick; Maystadt, Isabelle; Mei, Davide; Mertes, Christian; Meunier, Colombine; Molnar, Maria Judit; Monestier, Olivier; Moortgat, Stéphanie; Münchau, Alexander; Munell, Francina; Osorio, Andrés Nascimento; de Benito, Daniel Natera; Reghan, Mary O.; Olimpio, Catarina; Parrini, Elena; Pauly, Martje; Pérez-Dueñas, Belén; Peterlin, Borut; Platzer, Konrad; Polavarapu, Kiran; Poppe, Bruce; De la Paz, Manuel Posada; Privitera, Flavia; Radio, Francesca Clementina; Ratnaike, Thiloka; Renieri, Alessandra; Riva, Antonella; Rooryck, Caroline; Roos, Andreas; Ruivenkamp, Claudia A. L.; Rump, Andreas; Santen, Gijs W. E.; Savarese, Marco; Scala, Marcello; Schon, Katherine; Schröck, Evelin; Scudieri, Paolo; Spilioti, Martha; Steinke-Lange, Verena; Striano, Pasquale; Sznajer, Yves; Tartaglia, Marco; Thompson, Rachel; Trimouille, Aurelien; Udd, Bjarne; Uva, Paolo; Valle, Laura; van der Veken, Lars; van Heurck, Roxane; van Montfrans, Joris; Van Nieuwenhove, Erika; Verdin, Hannah; Webb, David; Wirth, Brunhilde; Yépez, Vicente A.; Zaganas, Ioannis; Zara, Federico; Zguro, Kristina; Laurie, Steven
NPJ Genom Med
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-24 (2024)
NPJ Genomic Medicine, 9, 1, pp. 49
NPJ genomic medicine, Vol. 9, no.1, p. 49 [1-24] (2024)
Npj genomic medicine
npj Genomic Medicine, 9(1):49
Solve-RD consortium 2024, 'Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses', NPJ Genomic Medicine, vol. 9, no. 1, 49, pp. 49. https://doi.org/10.1038/s41525-024-00436-6
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-24 (2024)
NPJ Genomic Medicine, 9, 1, pp. 49
NPJ genomic medicine, Vol. 9, no.1, p. 49 [1-24] (2024)
Npj genomic medicine
npj Genomic Medicine, 9(1):49
Solve-RD consortium 2024, 'Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses', NPJ Genomic Medicine, vol. 9, no. 1, 49, pp. 49. https://doi.org/10.1038/s41525-024-00436-6
Academic Journal
Brogna, Claudia ; Coratti, Giorgia ; Rossi, Rachele ; Neri, Marcella ; Messina, Sonia ; Amico, Adele D’ ; Bruno, Claudio ; Lucibello, Simona ; Vita, Gianluca ; Berardinelli, Angela ; Magri, Francesca ; Ricci, Federica ; Pedemonte, Marina ; Mongini, Tiziana ; Battini, Roberta ; Bello, Luca ; Pegoraro, Elena ; Baranello, Giovanni ; Politano, Luisa ; Comi, Giacomo P. ; Sansone, Valeria A ; Albamonte, Emilio ; Donati, Alice ; Bertini, Enrico ; Goemans, Nathalie ; Previtali, Stefano ; Bovis, Francesca ; Pane, Marika ; Ferlini, Alessandra ; Mercuri, Eugenio
In Neuromuscular Disorders June 2021 31(6):479-488
Academic Journal
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; Hoen, Peter A. C. ’t; Vissers, Lisenka E. L. M.; 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; 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; 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
Hum Genomics
Human Genomics, Vol 17, Iss 1, Pp 1-9 (2023)
Human Genomics, 17, 1, pp. 39
Human genomics
Yaldiz, B, Kucuk, E, Hampstead, J, Hofste, T, Pfundt, R, Corominas Galbany, J, Rinne, T, Yntema, H G, Hoischen, A, Nelen, M, Gilissen, C, Solve-RD consortium, Riess, O, Haack, T B, Graessner, H, Zurek, B, Ellwanger, K, Ossowski, S, Demidov, G, Sturm, M, Schulze-Hentrich, J M, Schüle, R, Xu, J, Kessler, C, Wayand, M, Synofzik, M, Wilke, C, Traschütz, A, Schöls, L, Hengel, H, Lerche, H, Kegele, J, Heutink, P, Brunner, H, Scheffer, H, Hoogerbrugge, N, Hoischen, A, Hoen, P A C, Vissers, L E L M, Gilissen, C, Steyaert, W, Sablauskas, K, de Voer, R M, Kamsteeg, E J, van de Warrenburg, B, van Os, N, te Paske, I, Janssen, E, Clayton-Smith, J, Banka, S, Jackson, A & et al. 2023, 'Twist exome capture allows for lower average sequence coverage in clinical exome sequencing', Human Genomics, vol. 17, no. 1, 39. https://doi.org/10.1186/s40246-023-00485-5
HUMAN GENOMICS
Human Genomics
Human Genomics, Vol 17, Iss 1, Pp 1-9 (2023)
Human Genomics, 17, 1, pp. 39
Human genomics
Yaldiz, B, Kucuk, E, Hampstead, J, Hofste, T, Pfundt, R, Corominas Galbany, J, Rinne, T, Yntema, H G, Hoischen, A, Nelen, M, Gilissen, C, Solve-RD consortium, Riess, O, Haack, T B, Graessner, H, Zurek, B, Ellwanger, K, Ossowski, S, Demidov, G, Sturm, M, Schulze-Hentrich, J M, Schüle, R, Xu, J, Kessler, C, Wayand, M, Synofzik, M, Wilke, C, Traschütz, A, Schöls, L, Hengel, H, Lerche, H, Kegele, J, Heutink, P, Brunner, H, Scheffer, H, Hoogerbrugge, N, Hoischen, A, Hoen, P A C, Vissers, L E L M, Gilissen, C, Steyaert, W, Sablauskas, K, de Voer, R M, Kamsteeg, E J, van de Warrenburg, B, van Os, N, te Paske, I, Janssen, E, Clayton-Smith, J, Banka, S, Jackson, A & et al. 2023, 'Twist exome capture allows for lower average sequence coverage in clinical exome sequencing', Human Genomics, vol. 17, no. 1, 39. https://doi.org/10.1186/s40246-023-00485-5
HUMAN GENOMICS
Human Genomics
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