Sfoglia per Autore
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
2023 Gehin, Charlotte; Lone, Museer A; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M; Gerkes, Erica H; Stegmann, Alexander Pa; López-Martín, Estrella; Bermejo-Sánchez, Eva; Martínez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Gräfe, Daniel; Knerr, Ina; Jones, Eppie R; Zamuner, Stefano; Abriata, Luciano A; Kunnathully, Vidya; Moeller, Brandon E; Vocat, Anthony; Rommelaere, Samuel; Bocquete, Jean-Philippe; Ruchti, Evelyne; Limoni, Greta; Van Campenhoudt, Marine; Bourgeat, Samuel; Henklein, Petra; Gilissen, Christian; van Bon, Bregje W; Pfundt, Rolph; Willemsen, Marjolein H; Schieving, Jolanda H; Leonardi, Emanuela; Soli, Fiorenza; Murgia, Alessandra; Guo, Hui; Zhang, Qiumeng; Xia, Kun; Fagerberg, Christina R; Beier, Christoph P; Larsen, Martin J; Valenzuela, Irene; Fernández-Álvarez, Paula; Xiong, Shiyi; Śmigiel, Robert; López-González, Vanesa; Armengol, Lluís; Morleo, Manuela; Selicorni, Angelo; Torella, Annalaura; Blyth, Moira; Cooper, Nicola S; Wilson, Valerie; Oegema, Renske; Herenger, Yvan; Garde, Aurore; Bruel, Ange-Line; Tran Mau-Them, Frederic; Maddocks, Alexis Br; Bain, Jennifer M; Bhat, Musadiq A; Costain, Gregory; Kannu, Peter; Marwaha, Ashish; Champaigne, Neena L; Friez, Michael J; Richardson, Ellen B; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Gupta, Yask; Lim, Tze Y; Sanna-Cherchi, Simone; Lemaitre, Bruno; Yamaji, Toshiyuki; Hanada, Kentaro; Burke, John E; Jakšić, Ana Marija; Mccabe, Brian D; De Los Rios, Paolo; Hornemann, Thorsten; D'Angelo, Giovanni; Gennarino, Vincenzo A
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel mutations
2023 Leonardi, Emanuela; Aspromonte, MARIA CRISTINA; Drongitis, Denise; Bettella, Elisa; Verrillo, Lucia; Polli, Roberta; Mcentagart, Meriel; Licchetta, Laura; Dilena, Robertino; D'Arrigo, Stefano; Ciaccio, Claudia; Esposito, Silvia; Leuzzi, Vincenzo; Torella, Annalaura; Baldo, Demetrio; Lonardo, Fortunato; Bonato, Giulia; Pellegrin, Serena; Stanzial, Franco; Posmyk, Renata; Kaczorowska, Ewa; Carecchio, Miryam; Gos, Monika; Rzońca-Niewczas, Sylwia; Giuseppina Miano, Maria; Murgia, Alessandra
DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants
2023 Vos, Niels; Reilly, Jack; Elting, Mariet W; Campeau, Philippe M; Coman, David; Stark, Zornitza; Tan, Tiong Yang; Amor, David J; Kaur, Simran; Stjohn, Miya; Morgan, Angela T; Kamien, Benjamin A; Patel, Chirag; Tedder, Matthew L; Merla, Giuseppe; Prontera, Paolo; Castori, Marco; Muru, Kai; Collins, Felicity; Christodoulou, John; Smith, Janine; Zeev, Bruria Ben; Murgia, Alessandra; Leonardi, Emanuela; Esber, Natacha; Martinez-Monseny, Antonio; Casas-Alba, Didac; Wallis, Matthew; Mannens, Marcel; Levy, Michael A; Relator, Raissa; Alders, Marielle; Sadikovic, Bekim
DisProt in 2022: improved quality and accessibility of protein intrinsic disorder annotation
2022 Quaglia, Federica; Mészáros, Bálint; Salladini, Edoardo; Hatos, András; Pancsa, Rita; Chemes, Lucía B; Pajkos, Mátyás; Lazar, Tamas; Peña-Díaz, Samuel; Santos, Jaime; Ács, Veronika; Farahi, Nazanin; Fichó, Erzsébet; Aspromonte, Maria Cristina; Bassot, Claudio; Chasapi, Anastasia; Davey, Norman E; Davidović, Radoslav; Dobson, Laszlo; Elofsson, Arne; Erdős, Gábor; Gaudet, Pascale; Giglio, Michelle; Glavina, Juliana; Iserte, Javier; Iglesias, Valentín; Kálmán, Zsófia; Lambrughi, Matteo; Leonardi, Emanuela; Longhi, Sonia; Macedo-Ribeiro, Sandra; Maiani, Emiliano; Marchetti, Julia; Marino-Buslje, Cristina; Mészáros, Attila; Monzon, Alexander Miguel; Minervini, Giovanni; Nadendla, Suvarna; Nilsson, Juliet F; Novotný, Marian; Ouzounis, Christos A; Palopoli, Nicolás; Papaleo, Elena; Pereira, Pedro José Barbosa; Pozzati, Gabriele; Promponas, Vasilis J; Pujols, Jordi; Rocha, Alma Carolina Sanchez; Salas, Martin; Sawicki, Luciana Rodriguez; Schad, Eva; Shenoy, Aditi; Szaniszló, Tamás; Tsirigos, Konstantinos D; Veljkovic, Nevena; Parisi, Gustavo; Ventura, Salvador; Dosztányi, Zsuzsanna; Tompa, Peter; Tosatto, Silvio C E; Piovesan, Damiano
Molecular Effects of Mutations in Human Genetic Diseases
2022 Leonardi, Emanuela; Savojardo, Castrense; Minervini, Giovanni
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
2022 Cousin, Margot A; Veale, Emma L; Dsouza, Nikita R; Tripathi, Swarnendu; Holden, Robyn G; Arelin, Maria; Beek, Geoffrey; Bekheirnia, Mir Reza; Beygo, Jasmin; Bhambhani, Vikas; Bialer, Martin; Bigoni, Stefania; Boelman, Cyrus; Carmichael, Jenny; Courtin, Thomas; Cogne, Benjamin; Dabaj, Ivana; Doummar, Diane; Fazilleau, Laura; Ferlini, Alessandra; Gavrilova, Ralitza H; Graham, John M; Haack, Tobias B; Juusola, Jane; Kant, Sarina G; Kayani, Saima; Keren, Boris; Ketteler, Petra; Klöckner, Chiara; Koopmann, Tamara T; Kruisselbrink, Teresa M; Kuechler, Alma; Lambert, Laëtitia; Latypova, Xénia; Lebel, Robert Roger; Leduc, Magalie S; Leonardi, Emanuela; Lewis, Andrea M; Liew, Wendy; Machol, Keren; Mardini, Samir; Mcwalter, Kirsty; Mignot, Cyril; Mclaughlin, Julie; Murgia, Alessandra; Narayanan, Vinodh; Nava, Caroline; Neuser, Sonja; Nizon, Mathilde; Ognibene, Davide; Park, Joohyun; Platzer, Konrad; Poirsier, Céline; Radtke, Maximilian; Ramsey, Keri; Runke, Cassandra K; Guillen Sacoto, Maria J; Scaglia, Fernando; Shinawi, Marwan; Spranger, Stephanie; Tan, Ee Shien; Taylor, John; Trentesaux, Anne-Sophie; Vairo, Filippo; Willaert, Rebecca; Zadeh, Neda; Urrutia, Raul; Babovic-Vuksanovic, Dusica; Zimmermann, Michael T; Mathie, Alistair; Klee, Eric W
Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow
2022 Godler, David E; Ling, Ling; Gamage, Dinusha; Baker, Emma K; Bui, Minh; Field, Michael J; Rogers, Carolyn; Butler, Merlin G; Murgia, Alessandra; Leonardi, Emanuela; Polli, Roberta; Schwartz, Charles E; Skinner, Cindy D; Alliende, Angelica M; Santa Maria, Lorena; Pitt, James; Greaves, Ronda; Francis, David; Oertel, Ralph; Wang, Min; Simons, Cas; Amor, David J
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
2022 Cousin, Margot A.; Veale, Emma L.; Dsouza, Nikita R.; Tripathi, Swarnendu; Holden, Robyn G.; Arelin, Maria; Beek, Geoffrey; Reza Bekheirnia, Mir; Beygo, Jasmin; Bhambhani, Vikas; Bialer, Martin; Bigoni, Stefania; Boelman, Cyrus; Carmichael, Jenny; Courtin, Thomas; Cogne, Benjamin; Dabaj, Ivana; Doummar, Diane; Fazilleau, Laura; Ferlini, Alessandra; Gavrilova, Ralitza H.; Graham Jr, John M.; Haack, Tobias B.; Juusola, Jane; Kant, Sarina G.; Kayani, Saima; Keren, Boris; Ketteler, Petra; Klöckner, Chiara; Koopmann, Tamara T.; Kruisselbrink, Teresa M.; Kuechler, Alma; Lambert, Laëtitia; Latypova, Xénia; Roger Lebel, Robert; Leduc, Magalie S.; Leonardi, Emanuela; Lewis, Andrea M.; Liew, Wendy; Machol, Keren; Mardini, Samir; Mcwalter, Kirsty; Mignot, Cyril; Mclaughlin, Julie; Murgia, Alessandra; Narayanan, Vinodh; Nava, Caroline; Neuser, Sonja; Nizon, Mathilde; Ognibene, Davide; Park, Joohyun; Platzer, Konrad; Poirsier, Céline; Radtke, Maximilian; Ramsey, Keri; Runke, Cassandra K.; Guillen Sacoto, Maria J.; Scaglia, Fernando; Shinawi, Marwan; Spranger, Stephanie; Shien Tan, Ee; John, Taylor; Trentesaux, Anne-Sophie; Vairo, Filippo; Willaert, Rebecca; Zadeh, Neda; Urrutia, Raul; Babovic-Vuksanovic, Dusica; Zimmermann, Michael T.; Mathie &, Alistair; Klee, Eric W.
Critical assessment of protein intrinsic disorder prediction
2021 Necci, M.; Piovesan, D.; Hoque, M. T.; Walsh, I.; Iqbal, S.; Vendruscolo, M.; Sormanni, P.; Wang, C.; Raimondi, D.; Sharma, R.; Zhou, Y.; Litfin, T.; Galzitskaya, O. V.; Lobanov, M. Y.; Vranken, W.; Wallner, B.; Mirabello, C.; Malhis, N.; Dosztanyi, Z.; Erdos, G.; Meszaros, B.; Gao, J.; Wang, K.; Hu, G.; Wu, Z.; Sharma, A.; Hanson, J.; Paliwal, K.; Callebaut, I.; Bitard-Feildel, T.; Orlando, G.; Peng, Z.; Xu, J.; Wang, S.; Jones, D. T.; Cozzetto, D.; Meng, F.; Yan, J.; Gsponer, J.; Cheng, J.; Wu, T.; Kurgan, L.; Promponas, V. J.; Tamana, S.; Marino-Buslje, C.; Martinez-Perez, E.; Chasapi, A.; Ouzounis, C.; Dunker, A. K.; Kajava, A. V.; Leclercq, J. Y.; Aykac-Fas, B.; Lambrughi, M.; Maiani, E.; Papaleo, E.; Chemes, L. B.; Alvarez, L.; Gonzalez-Foutel, N. S.; Iglesias, V.; Pujols, J.; Ventura, S.; Palopoli, N.; Benitez, G. I.; Parisi, G.; Bassot, C.; Elofsson, A.; Govindarajan, S.; Lamb, J.; Salvatore, M.; Hatos, A.; Monzon, A. M.; Bevilacqua, M.; Micetic, I.; Minervini, G.; Paladin, L.; Quaglia, F.; Leonardi, E.; Davey, N.; Horvath, T.; Kovacs, O. P.; Murvai, N.; Pancsa, R.; Schad, E.; Szabo, B.; Tantos, A.; Macedo-Ribeiro, S.; Manso, J. A.; Pereira, P. J. B.; Davidovic, R.; Veljkovic, N.; Hajdu-Soltesz, B.; Pajkos, M.; Szaniszlo, T.; Guharoy, M.; Lazar, T.; Macossay-Castillo, M.; Tompa, P.; Tosatto, S. C. E.
A Missense de Novo Variant in the CASK -interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar Hypoplasia
2021 Ciaccio, C.; Leonardi, E.; Polli, R.; Murgia, A.; D'Arrigo, S.; Granocchio, E.; Chiapparini, L.; Pantaleoni, C.; Esposito, S.
PPP2R5D variants in patients with variable neurodevelopmental phenotype
2020 Aspromonte, MARIA CRISTINA; Leonardi, Emanuela; Polli, Roberta; Bettella, Elisa; Cameran, Marilena; Guerrini, Renzo; Murgia, Alessandra
Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy”
2020 Leonardi, E.; Bettella, E.; Pelizza, M. F.; Aspromonte, M. C.; Polli, R.; Boniver, C.; Sartori, S.; Milani, D.; Murgia, A.
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)
2020 1, Gabriella Vera; 2, Arthur Sorlin; 2, Geoffroy Delplancq; 1, François Lecoquierre; 3, Marie Brasseur-Daudruy; 4, Florence Petit; 5, Thomas Smol; 6, Alban Ziegler; 6, Dominique Bonneau; 6, Estelle Colin; 7, Sandra Mercier; 7, Benjamin Cogné; 7, Stéphane Bézieau; 8, Patrick Edery; 8, Gaetan Lesca; 8, Nicolas Chatron; 9, Isabelle Sabatier; Duban-Bedu 10, Bénédicte; Colson 11, Cindy; Piton 12, Amélie; Durand 12, Benjamin; Capri 13, Yline; Perrin 13, Laurence; Wiesener 14, Antje; Zweier 14, Christiane; Maroofian 15, Reza; J Carroll 16, Christopher; Galehdari 17, Hamid; Mazaheri 18, Neda; Callewaert 19, Bert; Giulianno 20, Fabienne; Zaafrane-Khachnaoui 21, Khaoula; Buchert-Lo 22, Rebecca; Haack 22, Tobias; Magg 23, Janine; Rieß 22, Angelika; Blandfort 24, Maria; Waldmüller 22, Stephan; Horber 23, Veronka; Leonardi, Emanuela; Polli, Roberta; Turolla 26, Licia; Murgia, Alessandra; 1, Thierry Frebourg; Sophie Lebre 28, Anne; 1, Gaël Nicolas; 1, Pascale Saugier-Veber; Guerrot 29, Anne-Marie
Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A)
2020 Kaur, S.; Van Bergen, N. J.; Ben-Zeev, B.; Leonardi, E.; Tan, T. Y.; Coman, D.; Kamien, B.; White, S. M.; St John, M.; Phelan, D.; Rigbye, K.; Lim, S. C.; Torres, M. C.; Marty, M.; Savva, E.; Zhao, T.; Massey, S.; Murgia, A.; Gold, W. A.; Christodoulou, J.
A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES)
2020 Leonardi, E.; Bellini, M.; Aspromonte, M. C.; Polli, R.; Mercante, A.; Ciaccio, C.; Granocchio, E.; Bettella, E.; Donati, I.; Cainelli, E.; Boni, S.; Sartori, S.; Pantaleoni, C.; Boniver, C.; Murgia, A.
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype
2020 Cesca, F.; Bettella, E.; Polli, R.; Leonardi, E.; Aspromonte, M. C.; Sicilian, B.; Stanzial, F.; Benedicenti, F.; Sensi, A.; Ciorba, A.; Bigoni, S.; Cama, E.; Scimemi, P.; Santarelli, R.; Murgia, A.
Characterization of intellectual disability and autism comorbidity through gene panel sequencing
2019 Aspromonte, M. C.; Bellini, Mariagrazia; Gasparini, A.; Carraro, M.; Bettella, E.; Polli, R.; Cesca, F.; Bigoni, S.; Boni, S.; Carlet, O.; Negrin, S.; Mammi, I.; Milani, Duccio; Peron, A.; Sartori, S.; Toldo, I.; Soli, F.; Turolla, L.; Stanzial, F.; Benedicenti, F.; MARINO BUSLJE, CRISTINA ESTER; Tosatto, S. C. E.; Murgia, A.; Leonardi, E.
DisProt: intrinsic protein disorder annotation in 2020
2019 Hatos, András; Hajdu-Soltész, Borbála; Monzon, Alexander M; Palopoli, Nicolas; Álvarez, Lucía; Aykac-Fas, Burcu; Bassot, Claudio; Benítez, Guillermo I; Bevilacqua, Martina; Chasapi, Anastasia; Chemes, Lucia; Davey, Norman E; Davidović, Radoslav; Dunker, A Keith; Elofsson, Arne; Gobeill, Julien; Foutel, Nicolás S González; Sudha, Govindarajan; Guharoy, Mainak; Horvath, Tamas; Iglesias, Valentin; Kajava, Andrey V; Kovacs, Orsolya P; Lamb, John; Lambrughi, Matteo; Lazar, Tamas; Leclercq, Jeremy Y; Leonardi, Emanuela; Macedo-Ribeiro, Sandra; Macossay-Castillo, Mauricio; Maiani, Emiliano; Manso, José A; Marino-Buslje, Cristina; Martínez-Pérez, Elizabeth; Mészáros, Bálint; Mičetić, Ivan; Minervini, Giovanni; Murvai, Nikoletta; Necci, Marco; Ouzounis, Christos A; Pajkos, Mátyás; Paladin, Lisanna; Pancsa, Rita; Papaleo, Elena; Parisi, Gustavo; Pasche, Emilie; Barbosa Pereira, Pedro J; Promponas, Vasilis J; Pujols, Jordi; Quaglia, Federica; Ruch, Patrick; Salvatore, Marco; Schad, Eva; Szabo, Beata; Szaniszló, Tamás; Tamana, Stella; Tantos, Agnes; Veljkovic, Nevena; Ventura, Salvador; Vranken, Wim; Dosztányi, Zsuzsanna; Tompa, Peter; Tosatto, Silvio C E; Piovesan, Damiano
Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants
2019 Kasak, Laura; Bakolitsa, Constantina; Hu, Zhiqiang; Yu, Changhua; Rine, Jasper; Dimster-Denk, Dago F; Pandey, Gaurav; De Baets, Greet; Bromberg, Yana; Cao, Chen; Capriotti, Emidio; Casadio, Rita; Van Durme, Joost; Giollo, Manuel; Karchin, Rachel; Katsonis, Panagiotis; Leonardi, Emanuela; Lichtarge, Olivier; Martelli, Pier Luigi; Masica, David; Mooney, Sean D; Olatubosun, Ayodeji; Radivojac, Predrag; Rousseau, Frederic; Pal, Lipika R; Savojardo, Castrense; Schymkowitz, Joost; Thusberg, Janita; Tosatto, Silvio C E; Vihinen, Mauno; Väliaho, Jouni; Repo, Susanna; Moult, John; Brenner, Steven E; Friedberg, Iddo
Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI-5
2019 Monzon, A. M.; Carraro, M.; Chiricosta, L.; Reggiani, F.; Han, J.; Ozturk, K.; Wang, Y.; Miller, HEATHER MARGARET LOUISE; Bromberg, Y.; Capriotti, E.; Savojardo, C.; Babbi, G.; Martelli, P. L.; Casadio, R.; Katsonis, P.; Lichtarge, O.; Carter, H.; Kousi, M.; Katsanis, N.; Andreoletti, G.; Moult, J.; Brenner, S. E.; Ferrari, C.; Leonardi, E.; Tosatto, S. C. E.
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