LEONARDI, EMANUELA
LEONARDI, EMANUELA
Dipartimento di Scienze Biomediche - DSB
CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs)
2025 Aspromonte, Maria Cristina; Del Conte, Alessio; Zhu, Shaowen; Tan, Wuwei; Shen, Yang; Zhang, Yexian; Li, Qi; Wang, Maggie Haitian; Babbi, Giulia; Bovo, Samuele; Martelli, Pier Luigi; Casadio, Rita; Althagafi, Azza; Toonsi, Sumyyah; Kulmanov, Maxat; Hoehndorf, Robert; Katsonis, Panagiotis; Williams, Amanda; Lichtarge, Olivier; Xian, Su; Surento, Wesley; Pejaver, Vikas; Mooney, Sean D.; Sunderam, Uma; Srinivasan, Rajgopal; Murgia, Alessandra; Piovesan, Damiano; Tosatto, Silvio C. E.; Leonardi, Emanuela
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge
2025 Aspromonte, Maria Cristina; Del Conte, Alessio; Polli, Roberta; Baldo, Demetrio; Benedicenti, Francesco; Bettella, Elisa; Bigoni, Stefania; Boni, Stefania; Ciaccio, Claudia; D'Arrigo, Stefano; Donati, Ilaria; Granocchio, Elisa; Mammi, Isabella; Milani, Donatella; Negrin, Susanna; Nosadini, Margherita; Soli, Fiorenza; Stanzial, Franco; Turolla, Licia; Piovesan, Damiano; Tosatto, Silvio C E; Murgia, Alessandra; Leonardi, Emanuela
Best practices for the manual curation of intrinsically disordered proteins in DisProt
2024 Quaglia, Federica; Chasapi, Anastasia; Nugnes, Maria Victoria; Aspromonte, Maria Cristina; Leonardi, Emanuela; Piovesan, Damiano; Tosatto, Silvio C E
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods
2024 Jain, Shantanu; Bakolitsa, Constantina; E Brenner, Steven; Radivojac, Predrag; Moult, John; Repo, Susanna; A Hoskins, Roger; Andreoletti, Gaia; Barsky, Daniel; Chellapan, Ajithavalli; Chu, Hoyin; Dabbiru, Navya; K Kollipara, Naveen; Ly, Melissa; J Neumann, Andrew; R Pal, Lipika; Odell, Eric; Pandey, Gaurav; C Peters-Petrulewicz, Robin; Srinivasan, Rajgopal; F Yee, Stephen; Jyothsna Yeleswarapu, Sri; Zuhl, Maya; Adebali, Ogun; Patra, Ayoti; A Beer, Michael; Hosur, Raghavendra; Peng, Jian; M Bernard, Brady; Berry, Michael; Dong, Shengcheng; P Boyle, Alan; Adhikari, Aashish; Chen, Jingqi; Hu, Zhiqiang; Wang, Robert; Wang, Yaqiong; Miller, Maximilian; Wang, Yanran; Bromberg, Yana; Turina, Paola; Capriotti, Emidio; J Han, James; Ozturk, Kivilcim; Carter, Hannah; Babbi, Giulia; Bovo, Samuele; Di Lena, Pietro; Luigi Martelli, Pier; Savojardo, Castrense; Casadio, Rita; S Cline, Melissa; De Baets, Greet; Bonache, Sandra; Díez, Orland; Gutiérrez-Enríquez, Sara; Fernández, Alejandro; Montalban, Gemma; Ootes, Lars; Özkan, Selen; Padilla, Natàlia; Riera, Casandra; De la Cruz, Xavier; Diekhans, Mark; J Huwe, Peter; Wei, Qiong; Xu, Qifang; L Dunbrack, Roland; Gotea, Valer; Elnitski, Laura; Margolin, Gennady; Fariselli, Piero; V Kulakovskiy, Ivan; J Makeev, Vsevolod; D Penzar, Dmitry; E Vorontsov, Ilya; V Favorov, Alexander; R Forman, Julia; Hasenahuer, Marcia; S Fornasari, Maria; Parisi, Gustavo; Avsec, Ziga; H Çelik, Muhammed; Yen Duong Nguyen, Thi; Gagneur, Julien; Shi, Fang-Yuan; D Edwards, Matthew; Guo, Yuchun; Tian, Kevin; Zeng, Haoyang; K Gifford, David; Göke, Jonathan; Zaucha, Jan; Gough, Julian; S Ritchie, Graham R; Frankish, Adam; M Mudge, Jonathan; Harrow, Jennifer; L Young, Erin; Yu, Yao; D Huff, Chad; Murakami, Katsuhiko; Nagai, Yoko; Imanishi, Tadashi; J Mungall, Christopher; B Jacobsen, Julius O; Kim, Dongsup; Jeong, Chan-Seok; T Jones, David; Jun Li, Mulin; Beleva Guthrie, Violeta; Bhattacharya, Rohit; Chen, Yun-Ching; Douville, Christopher; Fan, Jean; Kim, Dewey; Masica, David; Niknafs, Noushin; Sengupta, Sohini; Tokheim, Collin; N Turner, Tychele; Ting Grace Yeo, Hui; Karchin, Rachel; Shin, Sunyoung; Welch, Rene; Keles, Sunduz; Li, Yue; Kellis, Manolis; Corbi-Verge, Carles; V Strokach, Alexey; M Kim, Philip; E Klein, Teri; Mohan, Rahul; A Sinnott-Armstrong, Nicholas; Wainberg, Michael; Kundaje, Anshul; Gonzaludo, Nina; Y Mak, Angel C; Chhibber, Aparna; K Lam, Hugo Y; Dahary, Dvir; Fishilevich, Simon; Lancet, Doron; Lee, Insuk; Bachman, Benjamin; Katsonis, Panagiotis; C Lua, Rhonald; J Wilson, Stephen; Lichtarge, Olivier; R Bhat, Rajendra; Sundaram, Laksshman; Viswanath, Vivek; Bellazzi, Riccardo; Nicora, Giovanna; Rizzo, Ettore; Limongelli, Ivan; M Mezlini, Aziz; Chang, Ray; Kim, Serra; Lai, Carmen; O'Connor, Robert; Topper, Scott; van den Akker, Jeroen; Y Zhou, Alicia; D Zimmer, Anjali; Mishne, Gilad; R Bergquist, Timothy; R Breese, Marcus; F Guerrero, Rafael; Jiang, Yuxiang; Kiga, Nikki; Li, Biao; Mort, Matthew; A Pagel, Kymberleigh; Pejaver, Vikas; H Stamboulian, Moses; Thusberg, Janita; D Mooney, Sean; Teerakulkittipong, Nuttinee; Cao, Chen; Kundu, Kunal; Yin, Yizhou; Yu, Chen-Hsin; Kleyman, Michael; Lin, Chiao-Feng; Stackpole, Mary; M Mount, Stephen; Eraslan, Gökcen; S Mueller, Nikola; Naito, Tatsuhiko; R Rao, Aliz; R Azaria, Johnathan; Brodie, Aharon; Ofran, Yanay; Garg, Aditi; Pal, Debnath; Hawkins-Hooker, Alex; Kenlay, Henry; Reid, John; J Mucaki, Eliseos; K Rogan, Peter; M Schwarz, Jana; B Searls, David; Rie Lee, Gyu; Seok, Chaok; Krämer, Andreas; Shah, Sohela; V Huang, Chenglai; F Kirsch, Jack; Shatsky, Maxim; Cao, Yue; Chen, Haoran; Karimi, Mostafa; Moronfoye, Oluwaseyi; Sun, Yuanfei; Shen, Yang; Shigeta, Ron; T Ford, Colby; Nodzak, Conor; Uppal, Aneeta; Shi, Xinghua; Joseph, Thomas; Kotte, Sujatha; Rana, Sadhna; Rao, Aditya; G Saipradeep, V; Sivadasan, Naveen; Sunderam, Uma; Stanke, Mario; Su, Andrew; Adzhubey, Ivan; M Jordan, Daniel; Sunyaev, Shamil; Rousseau, Frederic; Schymkowitz, Joost; Van Durme, Joost; V Tavtigian, Sean; Carraro, Marco; Giollo, Manuel; Tosatto, Silvio; Adato, Orit; Carmel, Liran; E Cohen, Noa; Fenesh, Tzila; Holtzer, Tamar; Juven-Gershon, Tamar; Unger, Ron; Niroula, Abhishek; Olatubosun, Ayodeji; Väliaho, Jouni; Yang, Yang; Vihinen, Mauno; E Wahl, Mary; Chang, Billy; Chun Chong, Ka; Hu, Inchi; Sun, Rui; Ka Kei Wu, William; Xia, Xiaoxuan; C Zee, Benny; H Wang, Maggie; Wang, Meng; Wu, Chunlei; Lu, Yutong; Chen, Ken; Yang, Yuedong; M Yates, Christopher; Kreimer, Anat; Yan, Zhongxia; Yosef, Nir; Zhao, Huying; Wei, Zhipeng; Yao, Zhaomin; Zhou, Fengfeng; Folkman, Lukas; Zhou, Yaoqi; Daneshjou, Roxana; B Altman, Russ; Inoue, Fumitaka; Ahituv, Nadav; P Arkin, Adam; Lovisa, Federica; Bonvini, Paolo; Bowdin, Sarah; Gianni, Stefano; Mantuano, Elide; Minicozzi, Velia; Novak, Leonore; Pasquo, Alessandra; Pastore, Annalisa; Petrosino, Maria; Puglisi, Rita; Toto, Angelo; Veneziano, Liana; Chiaraluce, Roberta; P Ball, Mad; R Bobe, Jason; M Church, George; Consalvi, Valerio; N Cooper, David; A Buckley, Bethany; B Sheridan, Molly; R Cutting, Garry; Chiara Scaini, Maria; J Cygan, Kamil; M Fredericks, Alger; T Glidden, David; Neil, Christopher; L Rhine, Christy; G Fairbrother, William; Y Alontaga, Aileen; W Fenton, Aron; A Matreyek, Kenneth; M Starita, Lea; M Fowler, Douglas; Löscher, Britt-Sabina; Franke, Andre; I Adamson, Scott; R Graveley, Brenton; W Gray, Joe; J Malloy, Mary; P Kane, John; Kousi, Maria; Katsanis, Nicholas; Schubach, Max; Kircher, Martin; Y Mak, Angel C; F Tang, Paul L; Kwok, Pui-Yan; H Lathrop, Richard; T Clark, Wyatt; K Yu, Guoying; H LeBowitz, Jonathan; Benedicenti, Francesco; Bettella, Elisa; Bigoni, Stefania; Cesca, Federica; Mammi, Isabella; Marino-Buslje, Cristina; Milani, Donatella; Peron, Angela; Polli, Roberta; Sartori, Stefano; Stanzial, Franco; Toldo, Irene; Turolla, Licia; C Aspromonte, Maria; Bellini, Mariagrazia; Leonardi, Emanuela; Liu, Xiaoming; Marshall, Christian; Richard McCombie, W; Elefanti, Lisa; Menin, Chiara; Stephen Meyn, M; Murgia, Alessandra; Y Nadeau, Kari C; L Neuhausen, Susan; L Nussbaum, Robert; Pirooznia, Mehdi; B Potash, James; F Dimster-Denk, Dago; D Rine, Jasper; R Sanford, Jeremy; Snyder, Michael; G Cote, Atina; Sun, Song; W Verby, Marta; Weile, Jochen; P Roth, Frederick; Tewhey, Ryan; C Sabeti, Pardis; Campagna, Joan; M Refaat, Marwan; Wojciak, Julianne; Grubb, Soren; Schmitt, Nicole; Shendure, Jay; B Spurdle, Amanda; J Stavropoulos, Dimitri; A Walton, Nephi; P Zandi, Peter; Ziv, Elad; Burke, Wylie; Chen, Flavia; R Carr, Lawrence; Martinez, Selena; Paik, Jodi; Harris-Wai, Julie; Yarborough, Mark; M Fullerton, Stephanie; A Koenig, Barbara; Mcinnes, Gregory; Shigaki, Dustin; Chandonia, John-Marc; Furutsuki, Mabel; Kasak, Laura; Yu, Changhua; Chen, Rui; Friedberg, Iddo; A Getz, Gad; Cong, Qian; N Kinch, Lisa; Zhang, Jing; V Grishin, Nick; Voskanian, Alin; G Kann, Maricel; Tran, Elizabeth; M Ioannidis, Nilah; M Hunter, Jesse; Udani, Rupa; Cai, Binghuang; A Morgan, Alexander; Sokolov, Artem; M Stuart, Joshua; Minervini, Giovanni; Monzon, Alexander Miguel; Batzoglou, Serafim; J Butte, Atul; S Greenblatt, Marc; K Hart, Reece; Hernandez, Ryan; P Hubbard, Tim J; Kahn, Scott; O'Donnell-Luria, Anne; C Ng, Pauline; Shon, John; Veltman, Joris; M Zook, Justin
Expanding the clinical phenotype of SHANK2-related disorders: childhood apraxia of speech in a patient with a novel SHANK2 pathogenic variant
2024 Granocchio, Elisa; Andreoli, Luca; Magazù, Santina; Sarti, Daniela; Leonardi, Emanuela; Murgia, Alessandra; Ciaccio, Claudia
CAGI6 ID-Challenge: Assessment of phenotype and variant predictions in 415 children with Neurodevelopmental Disorders (NDDs)
2023 Aspromonte, Maria Cristina; Conte, Alessio Del; Zhu, Shaowen; Tan, Wuwei; Shen, Yang; Zhang, Yexian; Li, Qi; Wang, Maggie Haitian; Babbi, Giulia; Bovo, Samuele; Martelli, Pier Luigi; Casadio, Rita; Althagafi, Azza; Toonsi, Sumyyah; Kulmanov, Maxat; Hoehndorf, Robert; Katsonis, Panagiotis; Williams, Amanda; Lichtarge, Olivier; Xian, Su; Surento, Wesley; Pejaver, Vikas; Mooney, Sean D.; Sunderam, Uma; Sriniva, Rajgopal; Murgia, Alessandra; Piovesan, Damiano; Tosatto, Silvio C. E.; Leonardi, Emanuela
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
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
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
PED in 2024: improving the community deposition of structural ensembles for intrinsically disordered proteins
2023 Ghafouri, Hamidreza; Lazar, Tamas; Del Conte, Alessio; Tenorio Ku, Luiggi G; Aspromonte, Maria Cristina; Leonardi, Emanuela; Tompa, Peter; Tosatto, Silvio C E; Monzon, Alexander Miguel
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
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; 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
Molecular Effects of Mutations in Human Genetic Diseases
2022 Leonardi, Emanuela; Savojardo, Castrense; Minervini, Giovanni
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.
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 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.
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.
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.