Publications

Authors:

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

Title:

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

Year:

2020

Type of item:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Language:

Inglese

Format:

A Stampa

Referee:

Sì

Name of journal:

CELL

ISSN of journal:

0092-8674

N° Volume:

180

Number or Folder:

3

Page numbers:

568-584.e23

Keyword:

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

Short description of contents:

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.

Web page:

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

Product ID:

119942

Handle IRIS:

11562/1038543

Last Modified:

November 15, 2022

Bibliographic citation:

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

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