Pubblicazioni

Autori:

F Kyle, Satterstrom; Jack A, Kosmicki; Jiebiao, Wang; Michael S, Breen; Silvia, De Rubeis; Joon-Yong, An; Minshi, Peng; Ryan, Collins; Jakob, Grove; Lambertus, Klei; Christine, Stevens; Jennifer, Reichert; Maureen S, Mulhern; Mykyta, Artomov; Sherif, Gerges; Brooke, Sheppard; Xinyi, Xu; Aparna, Bhaduri; Utku, Norman; Harrison, Brand; Grace, Schwartz; Rachel, Nguyen; Elizabeth E, Guerrero; Dias, ; Sequencing Consortium (Branko Aleksic, Autism; Anney, Richard; Barbosa, Mafalda; Bishop, Somer; Brusco, Alfredo; Bybjerg-Grauholm, Jonas; Carracedo, Angel; Chan, Marcus C. Y.; Chiocchetti, Andreas G.; Chung, Brian H. Y.; Coon, Hilary; Cuccaro, Michael L.; ́, Aurora Curro; DALLA BERNARDINA, Bernardo; Doan, Ryan; Domenici, Enrico; Dong, Shan; Fallerini, Chiara; Fernandez-Prieto, Montserrat; Battista Ferrero, Giovanni; Freitag, Christine M.; Fromer, Menachem; Jay Gargus, J.; Geschwind, Daniel; Giorgio, Elisa; Gonzalez-Penas, Javier; Guter, Stephen; Halpern, Danielle; Hansen-Kiss, Emily; He, Xin; Herman, Gail E.; Hertz-Picciotto, Irva; Hougaard, David M.; Hultman, Christina M.; Ionita-Laza, Iuliana; Jacob, Suma; Jamison, Jesslyn; Jugessur, Astanand; Kaartinen, Miia; Peggy Knudsen, Gun; Kolevzon, Alexander; Kushima, Itaru; Lun Lee, So; Lehtimaki, Terho; Lim, Elaine T.; Lintas, Carla; Ian Lipkin, W.; Lopergolo, Diego; Lopes, Fatima; Ludena, Yunin; Maciel, Patricia; Magnus, Per; Mahjani, Behrang; Maltman, Nell; Manoach, Dara S.; Meiri, Gal; Menashe, Idan; Miller, Judith; Minshew, Nancy; Montenegro, Eduarda M. S.; Moreira, Danielle; Morrow, Eric M.; Mors, Ole; Bo Mortensen, Preben; Mosconi, Matthew; Muglia, Pierandrea; Neale, Benjamin M.; Nordentoft, Merete; Ozaki, Norio; Palotie, Aarno; Parellada, Mara; Rita Passos-Bueno, Maria; Pericak-Vance, Margaret; Persico, Antonio M.; Pessah, Isaac; Puura, Kaija; Reichenberg, Abraham; Renieri, Alessandra; Riberi, Evelise; Robinson, Elise B.; Samocha, Kaitlin E.; Sandin, Sven; Santangelo, Susan L.; Schellenberg, Gerry; Scherer, Stephen W.; Schlitt, Sabine; Schmidt, Rebecca; Schmitt, Lauren; Silva, Isabela M. W.; Singh, Tarjinder; Siper, Paige M.; Smith, Moyra; Soares, Gabriela; Stoltenberg, Camilla; ̊l Suren, Pa; Susser, Ezra; Sweeney, John; Szatmari, Peter; Tang, Lara; Tassone, Flora; Teufel, Karoline; Trabetti, Elisabetta; del Pilar Trelles, Maria; Walsh, Christopher A.; Weiss, Lauren A.; Werge, Thomas; Werling, Donna M.; Wigdor, Emilie M.; Wilkinson, Emma; Jeremy Willsey, A.; Yu, Timothy W.; Yu, Mullin H. C.; Yuen, Ryan; Zachi), Elaine; Consortium (Esben Agerbo, iPSYCH-Broad; Damm Als, Thomas; Appadurai, Vivek; Bækvad-Hansen, Marie; Belliveau, Rich; Buil, Alfonso; Carey, Caitlin E.; Cerrato, Felecia; Chambert, Kimberly; Churchhouse, Claire; Dalsgaard, Søren; Demontis, Ditte; Dumont, Ashley; Goldstein, Jacqueline; Hansen, Christine S.; Engel Hauberg, Mads; Hollegaard, Mads V.; Howrigan, Daniel P.; Huang, Hailiang; Maller, Julian; Martin, Alicia R.; Martin, Joanna; Mattheisen, Manuel; Moran, Jennifer; Pallesen, Jonatan; Palmer, Duncan S.; Bøcker Pedersen, Carsten; Giørtz Pedersen, Marianne; Poterba, Timothy; Buchhave Poulsen, Jesper; Ripke, Stephan; Schork, Andrew J.; Thompson, Wesley K.; Turley, Patrick; Walters), Raymond K.; Betancur, Caroline; Catalina, ; Edwin H, Cook; Louise, Gallagher; Michael, Gill; James S, Sutcliffe; Audrey, Thurm; Michael E, Zwick; Anders D, Børglum; Matthew W, State; A Ercument, Cicek; Michael E, Talkowski; David J, Cutler; Bernie, Devlin; Stephan J, Sanders; Kathryn, Roeder; Mark J, Daly; Joseph D, Buxbaum

Titolo:

Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

Anno:

2020

Tipologia prodotto:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Lingua:

Inglese

Formato:

A Stampa

Referee:

Sì

Nome rivista:

CELL

ISSN Rivista:

0092-8674

N° Volume:

180

Numero o Fascicolo:

3

Intervallo pagine:

568-584.e23

Parole chiave:

autism spectrum disorder; cell type; cytoskeleton; excitatory neurons; excitatory-inhibitory balance; exome sequencing; genetics; inhibitory neurons; liability; neurodevelopment

Breve descrizione dei contenuti:

We present the largest exome sequencing study of autism spectrum disorder (ASD) to date (n = 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to integrate de novo and case-control rare variation, we identify 102 risk genes at a false discovery rate of 0.1 or less. Of these genes, 49 show higher frequencies of disruptive de novo variants in individuals ascertained to have severe neuro-developmental delay, whereas 53 show higher frequencies in individuals ascertained to have ASD; comparing ASD cases with mutations in these groups reveals phenotypic differences. Expressed early in brain development, most risk genes have roles in regulation of gene expression or neuronal communication (i.e., mutations effect neurodevelopmental and neurophysiological changes), and 13 fall within loci recurrently hit by copy number variants. In cells from the human cortex, expression of risk genes is enriched in excitatory and inhibitory neuronal lineages, consistent with multiple paths to an excitatory-inhibitory imbalance underlying ASD.

Pagina Web:

https://doi.org/10.1016/j.cell.2019.12.036

Id prodotto:

119942

Handle IRIS:

11562/1038543

ultima modifica:

15 novembre 2022

Citazione bibliografica:

F Kyle, Satterstrom; Jack A, Kosmicki; Jiebiao, Wang; Michael S, Breen; Silvia, De Rubeis; Joon-Yong, An; Minshi, Peng; Ryan, Collins; Jakob, Grove; Lambertus, Klei; Christine, Stevens; Jennifer, Reichert; Maureen S, Mulhern; Mykyta, Artomov; Sherif, Gerges; Brooke, Sheppard; Xinyi, Xu; Aparna, Bhaduri; Utku, Norman; Harrison, Brand; Grace, Schwartz; Rachel, Nguyen; Elizabeth E, Guerrero; Dias, ; Sequencing Consortium (Branko Aleksic, Autism; Anney, Richard; Barbosa, Mafalda; Bishop, Somer; Brusco, Alfredo; Bybjerg-Grauholm, Jonas; Carracedo, Angel; Chan, Marcus C. Y.; Chiocchetti, Andreas G.; Chung, Brian H. Y.; Coon, Hilary; Cuccaro, Michael L.; ́, Aurora Curro; DALLA BERNARDINA, Bernardo; Doan, Ryan; Domenici, Enrico; Dong, Shan; Fallerini, Chiara; Fernandez-Prieto, Montserrat; Battista Ferrero, Giovanni; Freitag, Christine M.; Fromer, Menachem; Jay Gargus, J.; Geschwind, Daniel; Giorgio, Elisa; Gonzalez-Penas, Javier; Guter, Stephen; Halpern, Danielle; Hansen-Kiss, Emily; He, Xin; Herman, Gail E.; Hertz-Picciotto, Irva; Hougaard, David M.; Hultman, Christina M.; Ionita-Laza, Iuliana; Jacob, Suma; Jamison, Jesslyn; Jugessur, Astanand; Kaartinen, Miia; Peggy Knudsen, Gun; Kolevzon, Alexander; Kushima, Itaru; Lun Lee, So; Lehtimaki, Terho; Lim, Elaine T.; Lintas, Carla; Ian Lipkin, W.; Lopergolo, Diego; Lopes, Fatima; Ludena, Yunin; Maciel, Patricia; Magnus, Per; Mahjani, Behrang; Maltman, Nell; Manoach, Dara S.; Meiri, Gal; Menashe, Idan; Miller, Judith; Minshew, Nancy; Montenegro, Eduarda M. S.; Moreira, Danielle; Morrow, Eric M.; Mors, Ole; Bo Mortensen, Preben; Mosconi, Matthew; Muglia, Pierandrea; Neale, Benjamin M.; Nordentoft, Merete; Ozaki, Norio; Palotie, Aarno; Parellada, Mara; Rita Passos-Bueno, Maria; Pericak-Vance, Margaret; Persico, Antonio M.; Pessah, Isaac; Puura, Kaija; Reichenberg, Abraham; Renieri, Alessandra; Riberi, Evelise; Robinson, Elise B.; Samocha, Kaitlin E.; Sandin, Sven; Santangelo, Susan L.; Schellenberg, Gerry; Scherer, Stephen W.; Schlitt, Sabine; Schmidt, Rebecca; Schmitt, Lauren; Silva, Isabela M. W.; Singh, Tarjinder; Siper, Paige M.; Smith, Moyra; Soares, Gabriela; Stoltenberg, Camilla; ̊l Suren, Pa; Susser, Ezra; Sweeney, John; Szatmari, Peter; Tang, Lara; Tassone, Flora; Teufel, Karoline; Trabetti, Elisabetta; del Pilar Trelles, Maria; Walsh, Christopher A.; Weiss, Lauren A.; Werge, Thomas; Werling, Donna M.; Wigdor, Emilie M.; Wilkinson, Emma; Jeremy Willsey, A.; Yu, Timothy W.; Yu, Mullin H. C.; Yuen, Ryan; Zachi), Elaine; Consortium (Esben Agerbo, iPSYCH-Broad; Damm Als, Thomas; Appadurai, Vivek; Bækvad-Hansen, Marie; Belliveau, Rich; Buil, Alfonso; Carey, Caitlin E.; Cerrato, Felecia; Chambert, Kimberly; Churchhouse, Claire; Dalsgaard, Søren; Demontis, Ditte; Dumont, Ashley; Goldstein, Jacqueline; Hansen, Christine S.; Engel Hauberg, Mads; Hollegaard, Mads V.; Howrigan, Daniel P.; Huang, Hailiang; Maller, Julian; Martin, Alicia R.; Martin, Joanna; Mattheisen, Manuel; Moran, Jennifer; Pallesen, Jonatan; Palmer, Duncan S.; Bøcker Pedersen, Carsten; Giørtz Pedersen, Marianne; Poterba, Timothy; Buchhave Poulsen, Jesper; Ripke, Stephan; Schork, Andrew J.; Thompson, Wesley K.; Turley, Patrick; Walters), Raymond K.; Betancur, Caroline; Catalina, ; Edwin H, Cook; Louise, Gallagher; Michael, Gill; James S, Sutcliffe; Audrey, Thurm; Michael E, Zwick; Anders D, Børglum; Matthew W, State; A Ercument, Cicek; Michael E, Talkowski; David J, Cutler; Bernie, Devlin; Stephan J, Sanders; Kathryn, Roeder; Mark J, Daly; Joseph D, Buxbaum, Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism «CELL» , vol. 180 , n. 3 , 2020 , pp. 568-584.e23

Consulta la scheda completa presente nel repository istituzionale della Ricerca di Ateneo