PAVINATO, LISA
PAVINATO, LISA
SCIENZE MEDICHE
A potential dual CAPRIN1/HDAC8 neurodevelopmental disorder case: the importance of periodic ES re-analysis
2024-01-01 S. Cardaropoli, V.G. Naretto, S. Trajkova, V. Rallo, M. Massidda, L. Pavinato, V. Pullano, S. Rizzo, F. Pintus, C. Leso, A. Aulino, M. Iacomino, P. Uva, A. Mussa, B. Pasini, F. Zara, A. Puliti, A. Angius, G.B. Ferrero, A. Brusco
A Systems Biology Approach for Prioritizing ASD Genes in Large or Noisy Datasets
2025-01-01 Remori, Veronica; Bondi, Heather; Airoldi, Manuel; Pavinato, Lisa; Borini, Giulia; Carli, Diana; Brusco, Alfredo; Fasano, Mauro
Arg209Lys and Gln508His missense variants in Rabphilin 3A cause pre- and post-synaptic dysfunctions at excitatory glutamatergic synapses
2025-01-01 Barzasi, Marta; Spinola, Alessio; Costa, Alex; Pavinato, Lisa; Brusco, Alfredo; Marcello, Elena; DiLuca, Monica; Gardoni, Fabrizio
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia
2024-01-01 Saettini, Francesco; Guerra, Fabiola; Mauri, Mario; Salter, Claire G; Adam, Margaret P; Adams, David; Baple, Emma L; Barredo, Estibaliz; Bhatia, Sanil; Borkhardt, Arndt; Brusco, Alfredo; Bugarin, Cristina; Chinello, Clizia; Crosby, Andrew H; D'Souza, Precilla; Denti, Vanna; Fazio, Grazia; Giuliani, Silvia; Kuehn, Hye Sun; Amel, Hassan; Elmi, Asha; Lo, Bernice; Malighetti, Federica; Mandrile, Giorgia; Martín-Nalda, Andrea; Mefford, Heather C; Moratto, Daniele; Emam Mousavi, Fatemeh; Nelson, Zoe; Gutiérrez-Solana, Luis González; Macnamara, Ellen; Michaud, Vincent; O'Leary, Melanie; Pagani, Lisa; Pavinato, Lisa; Santamaria, Patricia VVelez; Planas-Serra, Laura; Quadri, Manuel; Raspall-Chaure, Miquel; Rebellato, Stefano; Rosenzweig, Sergio D; Roubertie, Agathe; Holzinger, Dirk; Deal, Christin; Vockley, Catherine Walsh; Savino, Angela Maria; L Stoddard, Jennifer; Uhlig, Holm H; Pujol, Aurora; Magni, Fulvio; Paglia, Giuseppe; Cazzaniga, Gianni; Piazza, Rocco; Barberis, Matteo; Biondi, Andrea
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy
2021-01-01 Verdura, Edgard; Rodríguez-Palmero, Agustí; Vélez-Santamaria, Valentina; Planas-Serra, Laura; de la Calle, Irene; Raspall-Chaure, Miquel; Roubertie, Agathe; Benkirane, Mehdi; Saettini, Francesco; Pavinato, Lisa; Mandrile, Giorgia; O'Leary, Melanie; O'Heir, Emily; Barredo, Estibaliz; Chacón, Almudena; Michaud, Vincent; Goizet, Cyril; Ruiz, Montserrat; Schlüter, Agatha; Rouvet, Isabelle; Sala-Coromina, Julia; Fossati, Chiara; Iascone, Maria; Canonico, Francesco; Marcé-Grau, Anna; de Souza, Precilla; Adams, David R; Casasnovas, Carlos; Rehm, Heidi L; Mefford, Heather C; González Gutierrez-Solana, Luis; Brusco, Alfredo; Koenig, Michel; Macaya, Alfons; Pujol, Aurora
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD
2023-01-01 Pavinato, Lisa; Delle Vedove, Andrea; Carli, Diana; Ferrero, Marta; Carestiato, Silvia; Howe, Jennifer L; Agolini, Emanuele; Coviello, Domenico A; van de Laar, Ingrid; Au, Ping Yee Billie; Di Gregorio, Eleonora; Fabbiani, Alessandra; Croci, Susanna; Mencarelli, Maria Antonietta; Bruno, Lucia P; Renieri, Alessandra; Veltra, Danai; Sofocleous, Christalena; Faivre, Laurence; Mazel, Benoit; Safraou, Hana; Denommé-Pichon, Anne Sophie; van Slegtenhorst, Marjon A; Giesbertz, Noor; van Jaarsveld, Richard H; Childers, Anna; Rogers, R Curtis; Novelli, Antonio; De Rubeis, Silvia; Buxbaum, Joseph D; Scherer, Stephen W; Ferrero, Giovanni Battista; Wirth, Brunhilde; Brusco, Alfredo
CAPRIN1 haploinsufficient cortical organoids help in identifying underlying neurodevelopmental defects
2025-01-01 Chiara Leso, Lisa Pavinato, Antonietta Verrillo, Eleonora Campus , Elena Rita Vecchi, Andrea Angius, Vincenzo Rallo, Verdiana Pullano, Francesco Pintus, Alessandra Aulino, Giorgia Borgini, Alessia Albano, Luciano Conti, Valentina Proserpio, Giovanni Battista Ferrero, Arianna Baggiolini, Alfredo Brusco
Contribution of autosomal rare and de novo variants to sex differences in autism
2025-01-01 Koko, Mahmoud; Satterstrom, F Kyle; Branko Aleksic, Mykyta Artomov, Mafalda Barbosa, Elisa Benetti, Catalina Betancur, Monica Biscaldi-Schafer, Anders D. Børglum, Harrison Brand, Alfredo Brusco, Joseph D. Buxbaum, Gabriele Campos, Simona Cardaropoli, Diana Carli, Angel Carracedo, Marcus C.Y. Chan, Andreas G. Chiocchetti, Brian H.Y. Chung, Brett Collins, Ryan L. Collins, Edwin H. Cook, Hilary Coon, Claudia I.S. Costa, Michael L. Cuccaro, David J. Cutler, Mark J. Daly, Silvia De Rubeis, Bernie Devlin, Ryan N. Doan, Enrico Domenici, Shan Dong, Chiara Fallerini, Montserrat Fernández-Prieto, Giovanni Battista Ferrero, Christine M. Freitag, Jack M. Fu, J. Jay Gargus, Sherif Gerges, Elisa Giorgio, Ana Cristina Girardi, Stephen Guter, Emily Hansen-Kiss, Gail E. Herman, Irva Hertz-Picciotto, David M. Hougaard, Christina M. Hultman, Suma Jacob, Miia Kaartinen, Lambertus Klei, Alexander Kolevzon, Itaru Kushima, So Lun Lee, Terho Lehtimäki, Lindsay Liang, Carla Lintas, Alicia Ljungdahl, Caterina Lo Rizzo, Yunin Ludena, Patricia Maciel, Behrang Mahjani, Nell Maltman, Marianna Manara, Dara S. Manoach, Gal Meiri, Idan Menashe, Judith Miller, Nancy Minshew, Matthew Mosconi, Rachel Nguyen, Norio Ozaki, Aarno Palotie, Mara Parellada, Maria Rita Passos-Bueno, Lisa Pavinato, Minshi Peng, Margaret Pericak-Vance, Antonio M. Persico, Isaac N. Pessah, Kaija Puura, Abraham Reichenberg, Alessandra Renieri, Kathryn Roeder, Stephan J. Sanders, Sven Sandin, F. Kyle Satterstrom, Stephen W. Scherer, Sabine Schlitt, Rebecca J. Schmidt, Lauren Schmitt, Katja Schneider-Momm, Paige M. Siper, Laura Sloofman, Moyra Smith, Christine R. Stevens, Pål Suren, James S. Sutcliffe, John A. Sweeney, Michael E. Talkowski, Flora Tassone, Karoline Teufel, Elisabetta Trabetti, Slavica Trajkova, Maria del Pilar Trelles, Brie Wamsley, Jaqueline Y.T. Wang, Lauren A. Weiss, Mullin H.C. Yu, Ryan YuenWarrier, Varun; Martin, Hilary
Copy number variant (CNV) detection using exome sequencing data in neurodevelopmental disorders (NDDs)
2023-01-01 Serena Rizzo, Slavica Trajkova, Antonina Rinninella, Francesco Pintus, Elena Sukarova-Angelovska, Dragica Nestorovska, Simona Cardaropoli, Lisa Pavinato, Verdiana Pullano, Chiara Giovenino, Silvia Carestiato, Silvia De Rubeis, Joseph Buxbaum, Paola Dimartino, Roberto D'Aurizio, Tommaso Pippucci, Alfredo Brusco
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes
2022-01-01 Scala, Marcello; Drouot, Nathalie; MacLennan, Suzanna C; Wessels, Marja W; Krygier, Magdalena; Pavinato, Lisa; Telegrafi, Aida; de Man, Stella A; van Slegtenhorst, Marjon; Iacomino, Michele; Madia, Francesca; Scudieri, Paolo; Uva, Paolo; Giacomini, Thea; Nobile, Giulia; Mancardi, Maria Margherita; Balagura, Ganna; Galloni, Giovanni Battista; Verrotti, Alberto; Umair, Muhammad; Khan, Amjad; Liebelt, Jan; Schmidts, Miriam; Langer, Thorsten; Brusco, Alfredo; Lipska-Ziętkiewicz, Beata S; Saris, Jasper J; Charlet-Berguerand, Nicolas; Zara, Federico; Striano, Pasquale; Piton, Amélie
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity
2024-01-01 Trajkova, Slavica; Kerkhof, Jennifer; Rossi Sebastiano, Matteo; Pavinato, Lisa; Ferrero, Enza; Giovenino, Chiara; Carli, Diana; Di Gregorio, Eleonora; Marinoni, Roberta; Mandrile, Giorgia; Palermo, Flavia; Carestiato, Silvia; Cardaropoli, Simona; Pullano, Verdiana; Rinninella, Antonina; Giorgio, Elisa; Pippucci, Tommaso; Dimartino, Paola; Rzasa, Jessica; Rooney, Kathleen; McConkey, Haley; Petlichkovski, Aleksandar; Pasini, Barbara; Sukarova-Angelovska, Elena; Campbell, Christopher M; Metcalfe, Kay; Jenkinson, Sarah; Banka, Siddharth; Mussa, Alessandro; Ferrero, Giovanni Battista; Sadikovic, Bekim; Brusco, Alfredo
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases
2022-01-01 Marcogliese P.C.; Deal S.L.; Andrews J.; Harnish J.M.; Bhavana V.H.; Graves H.K.; Jangam S.; Luo X.; Liu N.; Bei D.; Chao Y.-H.; Hull B.; Lee P.-T.; Pan H.; Bhadane P.; Huang M.-C.; Longley C.M.; Chao H.-T.; Chung H.-L.; Haelterman N.A.; Kanca O.; Manivannan S.N.; Rossetti L.Z.; German R.J.; Gerard A.; Schwaibold E.M.C.; Fehr S.; Guerrini R.; Vetro A.; England E.; Murali C.N.; Barakat T.S.; van Dooren M.F.; Wilke M.; van Slegtenhorst M.; Lesca G.; Sabatier I.; Chatron N.; Brownstein C.A.; Madden J.A.; Agrawal P.B.; Keren B.; Courtin T.; Perrin L.; Brugger M.; Roser T.; Leiz S.; Mau-Them F.T.; Delanne J.; Sukarova-Angelovska E.; Trajkova S.; Rosenhahn E.; Strehlow V.; Platzer K.; Keller R.; Pavinato L.; Brusco A.; Rosenfeld J.A.; Marom R.; Wangler M.F.; Yamamoto S.
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review
2021-01-01 Pavinato L.; Trajkova S.; Grosso E.; Giorgio E.; Bruselles A.; Radio F.C.; Pippucci T.; Dimartino P.; Tartaglia M.; Petlichkovski A.; De Rubeis S.; Buxbaum J.; Ferrero G.B.; Keller R.; Brusco A.
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder
2024-01-01 Elkhateeb, Nour; Crookes, Renarta; Spiller, Michael; Pavinato, Lisa; Palermo, Flavia; Brusco, Alfredo; Parker, Michael; Park, Soo-Mi; Mendes, Ariana Costa; Saraiva, Jorge M; Hammer, Trine Bjørg; Nazaryan-Petersen, Lusine; Barakat, Tahsin Stefan; Wilke, Martina; Bhoj, Elizabeth; Ahrens-Nicklas, Rebecca C; Li, Dong; Nomakuchi, Tomoki; Brilstra, Eva H; Hunt, David; Johnson, Diana; Mansour, Sahar; Oprych, Kathryn; Mehta, Sarju G; Platzer, Konrad; Schnabel, Franziska; Kiep, Henriette; Faust, Helene; Prinzing, Gillian; Wiltrout, Kimberly; Radley, Jessica A; Serrano Russi, Alvaro H; Atallah, Isis; Campos-Xavier, Belinda; Amor, David J; Morgan, Angela T; Fagerberg, Christina; Andersen, Ulla A; Andersen, Charlotte B; Bijlsma, Emilia K; Bird, Lynne M; Mullegama, Sureni V; Green, Andrew; Isidor, Bertrand; Cogné, Benjamin; Kenny, Janna; Lynch, Sally A; Quin, Shauna; Low, Karen; Herget, Theresia; Kortüm, Fanny; Levy, Rebecca J; Morrison, Jennifer L; Wheeler, Patricia G; Narumanch, TaraChandra; Peron, Kristina; Matthews, Nicole; Uhlman, Jillian; Bell, Lauren; Pang, Lewis; Scurr, Ingrid; Belles, Rebecca S; Salbert, Bonnie Anne; Schaefer, Gerald Bradley; Green, Sarah; Ros, Andrea; Rodríguez-Palmero, Agustí; Višnjar, Tanja; Writzl, Karin; Vasudevan, Pradeep C; Balasubramanian, Meena
Family-based whole exome sequencing allows a 25% diagnostic yield in patients with autism spectrum disorder
2020-01-01 D Carli, E Giorgio, L Pavinato, E Riberi, P Dimartino, A Bruselles, S Cardaropoli, A Mussa, A Pelle, G Mandrile, V Antona, L Sorasio, E Biamino, EF Belligni, V Rizzo, F Sirchia, I Bagnasco, G Zacchetti, VG Naretto, G Gai, A Zonta, E Grosso, C Davico, R Keller, T Pippucci, M Tartaglia, S De Rubeis, A Brusco, GB Ferrero
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis
2022-01-01 Pavinato L.; Villamor-Paya M.; Sanchiz-Calvo M.; Andreoli C.; Gay M.; Vilaseca M.; Arauz-Garofalo G.; Ciolfi A.; Bruselles A.; Pippucci T.; Prota V.; Carli D.; Giorgio E.; Radio F.C.; Antona V.; Giuffre M.; Ranguin K.; Colson C.; De Rubeis S.; Dimartino P.; Buxbaum J.D.; Ferrero G.B.; Tartaglia M.; Martinelli S.; Stracker T.H.; Brusco A.
Identification of the DNA methylation signature of Mowat-Wilson syndrome
2024-01-01 Caraffi, Stefano Giuseppe; van der Laan, Liselot; Rooney, Kathleen; Trajkova, Slavica; Zuntini, Roberta; Relator, Raissa; Haghshenas, Sadegheh; Levy, Michael A; Baldo, Chiara; Mandrile, Giorgia; Lauzon, Carolyn; Cordelli, Duccio Maria; Ivanovski, Ivan; Fetta, Anna; Sukarova, Elena; Brusco, Alfredo; Pavinato, Lisa; Pullano, Verdiana; Zollino, Marcella; McConkey, Haley; Tartaglia, Marco; Ferrero, Giovanni Battista; Sadikovic, Bekim; Garavelli, Livia
Kcnk18 biallelic variants associated with intellectual disability and neurodevelopmental disorders alter tresk channel activity
2021-01-01 Pavinato L.; Nematian-Ardestani E.; Zonta A.; De Rubeis S.; Buxbaum J.; Mancini C.; Bruselles A.; Tartaglia M.; Pessia M.; Tucker S.J.; D'adamo M.C.; Brusco A.
Loss-of-function variants in CAPRIN1 in patients affected by autism spectrum disorder, language delay and intellectual disability with variable expressivity and incomplete penetrance
2020-01-01 Pavinato, L; Howe, JL; Carli, D; Agolini, E; Coviello, DA; Van de Laar, IMBH; Au, PYB; Di Gregorio, E; Giorgio, E; Pozzi, E; Ferrero, M; Cardaropoli, S; Delle Vedove, A; Salpietro, V; Zara, F; Novelli, A; Wirth, B; Ferrero, GB; Scherer, SW; Brusco, A
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder
2023-01-01 Pavinato, Lisa; Stanic, Jennifer; Barzasi, Marta; Gurgone, Antonia; Chiantia, Giuseppe; Cipriani, Valentina; Eberini, Ivano; Palazzolo, Luca; Di Luca, Monica; Costa, Alex; Marcantoni, Andrea; Biamino, Elisa; Spada, Marco; Hiatt, Susan M; Kelley, Whitley V; Vestito, Letizia; Sisodiya, Sanjay M; Efthymiou, Stephanie; Chand, Prem; Kaiyrzhanov, Rauan; Bruselles, Alessandro; Cardaropoli, Simona; Tartaglia, Marco; De Rubeis, Silvia; Buxbaum, Joseph D; Smedley, Damian; Ferrero, Giovanni Battista; Giustetto, Maurizio; Gardoni, Fabrizio; Brusco, Alfredo
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A potential dual CAPRIN1/HDAC8 neurodevelopmental disorder case: the importance of periodic ES re-analysis | 2024 | S. Cardaropoli, V.G. Naretto, S. Trajkova, V. Rallo, M. Massidda, L. Pavinato, V. Pullano, S. Rizzo, F. Pintus, C. Leso, A. Aulino, M. Iacomino, P. Uva, A. Mussa, B. Pasini, F. Zara, A. Puliti, A. Angius, G.B. Ferrero, A. Brusco | |
| A Systems Biology Approach for Prioritizing ASD Genes in Large or Noisy Datasets | 2025 | Remori, Veronica; Bondi, Heather; Airoldi, Manuel; Pavinato, Lisa; Borini, Giulia; Carli, Diana; Brusco, Alfredo; Fasano, Mauro | |
| Arg209Lys and Gln508His missense variants in Rabphilin 3A cause pre- and post-synaptic dysfunctions at excitatory glutamatergic synapses | 2025 | Barzasi, Marta; Spinola, Alessio; Costa, Alex; Pavinato, Lisa; Brusco, Alfredo; Marcello, Elena; DiLuca, Monica; Gardoni, Fabrizio | |
| Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia | 2024 | Saettini, Francesco; Guerra, Fabiola; Mauri, Mario; Salter, Claire G; Adam, Margaret P; Adams, David; Baple, Emma L; Barredo, Estibaliz; Bhatia, Sanil; Borkhardt, Arndt; Brusco, Alfredo; Bugarin, Cristina; Chinello, Clizia; Crosby, Andrew H; D'Souza, Precilla; Denti, Vanna; Fazio, Grazia; Giuliani, Silvia; Kuehn, Hye Sun; Amel, Hassan; Elmi, Asha; Lo, Bernice; Malighetti, Federica; Mandrile, Giorgia; Martín-Nalda, Andrea; Mefford, Heather C; Moratto, Daniele; Emam Mousavi, Fatemeh; Nelson, Zoe; Gutiérrez-Solana, Luis González; Macnamara, Ellen; Michaud, Vincent; O'Leary, Melanie; Pagani, Lisa; Pavinato, Lisa; Santamaria, Patricia VVelez; Planas-Serra, Laura; Quadri, Manuel; Raspall-Chaure, Miquel; Rebellato, Stefano; Rosenzweig, Sergio D; Roubertie, Agathe; Holzinger, Dirk; Deal, Christin; Vockley, Catherine Walsh; Savino, Angela Maria; L Stoddard, Jennifer; Uhlig, Holm H; Pujol, Aurora; Magni, Fulvio; Paglia, Giuseppe; Cazzaniga, Gianni; Piazza, Rocco; Barberis, Matteo; Biondi, Andrea | |
| Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy | 2021 | Verdura, Edgard; Rodríguez-Palmero, Agustí; Vélez-Santamaria, Valentina; Planas-Serra, Laura; de la Calle, Irene; Raspall-Chaure, Miquel; Roubertie, Agathe; Benkirane, Mehdi; Saettini, Francesco; Pavinato, Lisa; Mandrile, Giorgia; O'Leary, Melanie; O'Heir, Emily; Barredo, Estibaliz; Chacón, Almudena; Michaud, Vincent; Goizet, Cyril; Ruiz, Montserrat; Schlüter, Agatha; Rouvet, Isabelle; Sala-Coromina, Julia; Fossati, Chiara; Iascone, Maria; Canonico, Francesco; Marcé-Grau, Anna; de Souza, Precilla; Adams, David R; Casasnovas, Carlos; Rehm, Heidi L; Mefford, Heather C; González Gutierrez-Solana, Luis; Brusco, Alfredo; Koenig, Michel; Macaya, Alfons; Pujol, Aurora | |
| CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD | 2023 | Pavinato, Lisa; Delle Vedove, Andrea; Carli, Diana; Ferrero, Marta; Carestiato, Silvia; Howe, Jennifer L; Agolini, Emanuele; Coviello, Domenico A; van de Laar, Ingrid; Au, Ping Yee Billie; Di Gregorio, Eleonora; Fabbiani, Alessandra; Croci, Susanna; Mencarelli, Maria Antonietta; Bruno, Lucia P; Renieri, Alessandra; Veltra, Danai; Sofocleous, Christalena; Faivre, Laurence; Mazel, Benoit; Safraou, Hana; Denommé-Pichon, Anne Sophie; van Slegtenhorst, Marjon A; Giesbertz, Noor; van Jaarsveld, Richard H; Childers, Anna; Rogers, R Curtis; Novelli, Antonio; De Rubeis, Silvia; Buxbaum, Joseph D; Scherer, Stephen W; Ferrero, Giovanni Battista; Wirth, Brunhilde; Brusco, Alfredo | |
| CAPRIN1 haploinsufficient cortical organoids help in identifying underlying neurodevelopmental defects | 2025 | Chiara Leso, Lisa Pavinato, Antonietta Verrillo, Eleonora Campus , Elena Rita Vecchi, Andrea Angius, Vincenzo Rallo, Verdiana Pullano, Francesco Pintus, Alessandra Aulino, Giorgia Borgini, Alessia Albano, Luciano Conti, Valentina Proserpio, Giovanni Battista Ferrero, Arianna Baggiolini, Alfredo Brusco | |
| Contribution of autosomal rare and de novo variants to sex differences in autism | 2025 | Koko, Mahmoud; Satterstrom, F Kyle; Branko Aleksic, Mykyta Artomov, Mafalda Barbosa, Elisa Benetti, Catalina Betancur, Monica Biscaldi-Schafer, Anders D. Børglum, Harrison Brand, Alfredo Brusco, Joseph D. Buxbaum, Gabriele Campos, Simona Cardaropoli, Diana Carli, Angel Carracedo, Marcus C.Y. Chan, Andreas G. Chiocchetti, Brian H.Y. Chung, Brett Collins, Ryan L. Collins, Edwin H. Cook, Hilary Coon, Claudia I.S. Costa, Michael L. Cuccaro, David J. Cutler, Mark J. Daly, Silvia De Rubeis, Bernie Devlin, Ryan N. Doan, Enrico Domenici, Shan Dong, Chiara Fallerini, Montserrat Fernández-Prieto, Giovanni Battista Ferrero, Christine M. Freitag, Jack M. Fu, J. Jay Gargus, Sherif Gerges, Elisa Giorgio, Ana Cristina Girardi, Stephen Guter, Emily Hansen-Kiss, Gail E. Herman, Irva Hertz-Picciotto, David M. Hougaard, Christina M. Hultman, Suma Jacob, Miia Kaartinen, Lambertus Klei, Alexander Kolevzon, Itaru Kushima, So Lun Lee, Terho Lehtimäki, Lindsay Liang, Carla Lintas, Alicia Ljungdahl, Caterina Lo Rizzo, Yunin Ludena, Patricia Maciel, Behrang Mahjani, Nell Maltman, Marianna Manara, Dara S. Manoach, Gal Meiri, Idan Menashe, Judith Miller, Nancy Minshew, Matthew Mosconi, Rachel Nguyen, Norio Ozaki, Aarno Palotie, Mara Parellada, Maria Rita Passos-Bueno, Lisa Pavinato, Minshi Peng, Margaret Pericak-Vance, Antonio M. Persico, Isaac N. Pessah, Kaija Puura, Abraham Reichenberg, Alessandra Renieri, Kathryn Roeder, Stephan J. Sanders, Sven Sandin, F. Kyle Satterstrom, Stephen W. Scherer, Sabine Schlitt, Rebecca J. Schmidt, Lauren Schmitt, Katja Schneider-Momm, Paige M. Siper, Laura Sloofman, Moyra Smith, Christine R. Stevens, Pål Suren, James S. Sutcliffe, John A. Sweeney, Michael E. Talkowski, Flora Tassone, Karoline Teufel, Elisabetta Trabetti, Slavica Trajkova, Maria del Pilar Trelles, Brie Wamsley, Jaqueline Y.T. Wang, Lauren A. Weiss, Mullin H.C. Yu, Ryan YuenWarrier, Varun; Martin, Hilary | |
| Copy number variant (CNV) detection using exome sequencing data in neurodevelopmental disorders (NDDs) | 2023 | Serena Rizzo, Slavica Trajkova, Antonina Rinninella, Francesco Pintus, Elena Sukarova-Angelovska, Dragica Nestorovska, Simona Cardaropoli, Lisa Pavinato, Verdiana Pullano, Chiara Giovenino, Silvia Carestiato, Silvia De Rubeis, Joseph Buxbaum, Paola Dimartino, Roberto D'Aurizio, Tommaso Pippucci, Alfredo Brusco | |
| De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes | 2022 | Scala, Marcello; Drouot, Nathalie; MacLennan, Suzanna C; Wessels, Marja W; Krygier, Magdalena; Pavinato, Lisa; Telegrafi, Aida; de Man, Stella A; van Slegtenhorst, Marjon; Iacomino, Michele; Madia, Francesca; Scudieri, Paolo; Uva, Paolo; Giacomini, Thea; Nobile, Giulia; Mancardi, Maria Margherita; Balagura, Ganna; Galloni, Giovanni Battista; Verrotti, Alberto; Umair, Muhammad; Khan, Amjad; Liebelt, Jan; Schmidts, Miriam; Langer, Thorsten; Brusco, Alfredo; Lipska-Ziętkiewicz, Beata S; Saris, Jasper J; Charlet-Berguerand, Nicolas; Zara, Federico; Striano, Pasquale; Piton, Amélie | |
| DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity | 2024 | Trajkova, Slavica; Kerkhof, Jennifer; Rossi Sebastiano, Matteo; Pavinato, Lisa; Ferrero, Enza; Giovenino, Chiara; Carli, Diana; Di Gregorio, Eleonora; Marinoni, Roberta; Mandrile, Giorgia; Palermo, Flavia; Carestiato, Silvia; Cardaropoli, Simona; Pullano, Verdiana; Rinninella, Antonina; Giorgio, Elisa; Pippucci, Tommaso; Dimartino, Paola; Rzasa, Jessica; Rooney, Kathleen; McConkey, Haley; Petlichkovski, Aleksandar; Pasini, Barbara; Sukarova-Angelovska, Elena; Campbell, Christopher M; Metcalfe, Kay; Jenkinson, Sarah; Banka, Siddharth; Mussa, Alessandro; Ferrero, Giovanni Battista; Sadikovic, Bekim; Brusco, Alfredo | |
| Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases | 2022 | Marcogliese P.C.; Deal S.L.; Andrews J.; Harnish J.M.; Bhavana V.H.; Graves H.K.; Jangam S.; Luo X.; Liu N.; Bei D.; Chao Y.-H.; Hull B.; Lee P.-T.; Pan H.; Bhadane P.; Huang M.-C.; Longley C.M.; Chao H.-T.; Chung H.-L.; Haelterman N.A.; Kanca O.; Manivannan S.N.; Rossetti L.Z.; German R.J.; Gerard A.; Schwaibold E.M.C.; Fehr S.; Guerrini R.; Vetro A.; England E.; Murali C.N.; Barakat T.S.; van Dooren M.F.; Wilke M.; van Slegtenhorst M.; Lesca G.; Sabatier I.; Chatron N.; Brownstein C.A.; Madden J.A.; Agrawal P.B.; Keren B.; Courtin T.; Perrin L.; Brugger M.; Roser T.; Leiz S.; Mau-Them F.T.; Delanne J.; Sukarova-Angelovska E.; Trajkova S.; Rosenhahn E.; Strehlow V.; Platzer K.; Keller R.; Pavinato L.; Brusco A.; Rosenfeld J.A.; Marom R.; Wangler M.F.; Yamamoto S. | |
| Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review | 2021 | Pavinato L.; Trajkova S.; Grosso E.; Giorgio E.; Bruselles A.; Radio F.C.; Pippucci T.; Dimartino P.; Tartaglia M.; Petlichkovski A.; De Rubeis S.; Buxbaum J.; Ferrero G.B.; Keller R.; Brusco A. | |
| Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder | 2024 | Elkhateeb, Nour; Crookes, Renarta; Spiller, Michael; Pavinato, Lisa; Palermo, Flavia; Brusco, Alfredo; Parker, Michael; Park, Soo-Mi; Mendes, Ariana Costa; Saraiva, Jorge M; Hammer, Trine Bjørg; Nazaryan-Petersen, Lusine; Barakat, Tahsin Stefan; Wilke, Martina; Bhoj, Elizabeth; Ahrens-Nicklas, Rebecca C; Li, Dong; Nomakuchi, Tomoki; Brilstra, Eva H; Hunt, David; Johnson, Diana; Mansour, Sahar; Oprych, Kathryn; Mehta, Sarju G; Platzer, Konrad; Schnabel, Franziska; Kiep, Henriette; Faust, Helene; Prinzing, Gillian; Wiltrout, Kimberly; Radley, Jessica A; Serrano Russi, Alvaro H; Atallah, Isis; Campos-Xavier, Belinda; Amor, David J; Morgan, Angela T; Fagerberg, Christina; Andersen, Ulla A; Andersen, Charlotte B; Bijlsma, Emilia K; Bird, Lynne M; Mullegama, Sureni V; Green, Andrew; Isidor, Bertrand; Cogné, Benjamin; Kenny, Janna; Lynch, Sally A; Quin, Shauna; Low, Karen; Herget, Theresia; Kortüm, Fanny; Levy, Rebecca J; Morrison, Jennifer L; Wheeler, Patricia G; Narumanch, TaraChandra; Peron, Kristina; Matthews, Nicole; Uhlman, Jillian; Bell, Lauren; Pang, Lewis; Scurr, Ingrid; Belles, Rebecca S; Salbert, Bonnie Anne; Schaefer, Gerald Bradley; Green, Sarah; Ros, Andrea; Rodríguez-Palmero, Agustí; Višnjar, Tanja; Writzl, Karin; Vasudevan, Pradeep C; Balasubramanian, Meena | |
| Family-based whole exome sequencing allows a 25% diagnostic yield in patients with autism spectrum disorder | 2020 | D Carli, E Giorgio, L Pavinato, E Riberi, P Dimartino, A Bruselles, S Cardaropoli, A Mussa, A Pelle, G Mandrile, V Antona, L Sorasio, E Biamino, EF Belligni, V Rizzo, F Sirchia, I Bagnasco, G Zacchetti, VG Naretto, G Gai, A Zonta, E Grosso, C Davico, R Keller, T Pippucci, M Tartaglia, S De Rubeis, A Brusco, GB Ferrero | |
| Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis | 2022 | Pavinato L.; Villamor-Paya M.; Sanchiz-Calvo M.; Andreoli C.; Gay M.; Vilaseca M.; Arauz-Garofalo G.; Ciolfi A.; Bruselles A.; Pippucci T.; Prota V.; Carli D.; Giorgio E.; Radio F.C.; Antona V.; Giuffre M.; Ranguin K.; Colson C.; De Rubeis S.; Dimartino P.; Buxbaum J.D.; Ferrero G.B.; Tartaglia M.; Martinelli S.; Stracker T.H.; Brusco A. | |
| Identification of the DNA methylation signature of Mowat-Wilson syndrome | 2024 | Caraffi, Stefano Giuseppe; van der Laan, Liselot; Rooney, Kathleen; Trajkova, Slavica; Zuntini, Roberta; Relator, Raissa; Haghshenas, Sadegheh; Levy, Michael A; Baldo, Chiara; Mandrile, Giorgia; Lauzon, Carolyn; Cordelli, Duccio Maria; Ivanovski, Ivan; Fetta, Anna; Sukarova, Elena; Brusco, Alfredo; Pavinato, Lisa; Pullano, Verdiana; Zollino, Marcella; McConkey, Haley; Tartaglia, Marco; Ferrero, Giovanni Battista; Sadikovic, Bekim; Garavelli, Livia | |
| Kcnk18 biallelic variants associated with intellectual disability and neurodevelopmental disorders alter tresk channel activity | 2021 | Pavinato L.; Nematian-Ardestani E.; Zonta A.; De Rubeis S.; Buxbaum J.; Mancini C.; Bruselles A.; Tartaglia M.; Pessia M.; Tucker S.J.; D'adamo M.C.; Brusco A. | |
| Loss-of-function variants in CAPRIN1 in patients affected by autism spectrum disorder, language delay and intellectual disability with variable expressivity and incomplete penetrance | 2020 | Pavinato, L; Howe, JL; Carli, D; Agolini, E; Coviello, DA; Van de Laar, IMBH; Au, PYB; Di Gregorio, E; Giorgio, E; Pozzi, E; Ferrero, M; Cardaropoli, S; Delle Vedove, A; Salpietro, V; Zara, F; Novelli, A; Wirth, B; Ferrero, GB; Scherer, SW; Brusco, A | |
| Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder | 2023 | Pavinato, Lisa; Stanic, Jennifer; Barzasi, Marta; Gurgone, Antonia; Chiantia, Giuseppe; Cipriani, Valentina; Eberini, Ivano; Palazzolo, Luca; Di Luca, Monica; Costa, Alex; Marcantoni, Andrea; Biamino, Elisa; Spada, Marco; Hiatt, Susan M; Kelley, Whitley V; Vestito, Letizia; Sisodiya, Sanjay M; Efthymiou, Stephanie; Chand, Prem; Kaiyrzhanov, Rauan; Bruselles, Alessandro; Cardaropoli, Simona; Tartaglia, Marco; De Rubeis, Silvia; Buxbaum, Joseph D; Smedley, Damian; Ferrero, Giovanni Battista; Giustetto, Maurizio; Gardoni, Fabrizio; Brusco, Alfredo |