Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

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Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. / Satterstrom, F. Kyle; Kosmicki, Jack A.; Wang, Jiebiao; Breen, Michael S.; De Rubeis, Silvia; An, Joon Yong; Peng, Minshi; Collins, Ryan; Grove, Jakob; Klei, Lambertus; Stevens, Christine; Reichert, Jennifer; Mulhern, Maureen S.; Artomov, Mykyta; Gerges, Sherif; Sheppard, Brooke; Xu, Xinyi; Bhaduri, Aparna; Norman, Utku; Brand, Harrison; Schwartz, Grace; Nguyen, Rachel; Guerrero, Elizabeth E.; Dias, Caroline; Aleksic, Branko; 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.; Curró, Aurora; Dalla Bernardina, Bernardo; Doan, Ryan; Domenici, Enrico; Dong, Shan; Fallerini, Chiara; Fernández-Prieto, Montserrat; Ferrero, Giovanni Battista; Nordentoft, Merete; Werge, Thomas; Appadurai, Vivek; Bækvad-Hansen, Marie; Hansen, Christine S.; Pedersen, Carsten Bøcker; iPSYCH-Broad Consortium; Autism Sequencing Consortium.

In: Cell, Vol. 180, No. 3, 2020, p. 568-584.e23.

Research output: Contribution to journalJournal articleResearchpeer-review

Harvard

Satterstrom, FK, Kosmicki, JA, Wang, J, Breen, MS, De Rubeis, S, An, JY, Peng, M, Collins, R, Grove, J, Klei, L, Stevens, C, Reichert, J, Mulhern, MS, Artomov, M, Gerges, S, Sheppard, B, Xu, X, Bhaduri, A, Norman, U, Brand, H, Schwartz, G, Nguyen, R, Guerrero, EE, Dias, C, Aleksic, B, Anney, R, Barbosa, M, Bishop, S, Brusco, A, Bybjerg-Grauholm, J, Carracedo, A, Chan, MCY, Chiocchetti, AG, Chung, BHY, Coon, H, Cuccaro, ML, Curró, A, Dalla Bernardina, B, Doan, R, Domenici, E, Dong, S, Fallerini, C, Fernández-Prieto, M, Ferrero, GB, Nordentoft, M, Werge, T, Appadurai, V, Bækvad-Hansen, M, Hansen, CS, Pedersen, CB, iPSYCH-Broad Consortium & Autism Sequencing Consortium 2020, 'Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism', Cell, vol. 180, no. 3, pp. 568-584.e23. https://doi.org/10.1016/j.cell.2019.12.036

APA

Satterstrom, F. K., Kosmicki, J. A., Wang, J., Breen, M. S., De Rubeis, S., An, J. Y., Peng, M., Collins, R., Grove, J., Klei, L., Stevens, C., Reichert, J., Mulhern, M. S., Artomov, M., Gerges, S., Sheppard, B., Xu, X., Bhaduri, A., Norman, U., ... Autism Sequencing Consortium (2020). Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. Cell, 180(3), 568-584.e23. https://doi.org/10.1016/j.cell.2019.12.036

Vancouver

Satterstrom FK, Kosmicki JA, Wang J, Breen MS, De Rubeis S, An JY et al. Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. Cell. 2020;180(3):568-584.e23. https://doi.org/10.1016/j.cell.2019.12.036

Author

Satterstrom, F. Kyle ; Kosmicki, Jack A. ; Wang, Jiebiao ; Breen, Michael S. ; De Rubeis, Silvia ; An, Joon Yong ; Peng, Minshi ; Collins, Ryan ; Grove, Jakob ; Klei, Lambertus ; Stevens, Christine ; Reichert, Jennifer ; Mulhern, Maureen S. ; Artomov, Mykyta ; Gerges, Sherif ; Sheppard, Brooke ; Xu, Xinyi ; Bhaduri, Aparna ; Norman, Utku ; Brand, Harrison ; Schwartz, Grace ; Nguyen, Rachel ; Guerrero, Elizabeth E. ; Dias, Caroline ; Aleksic, Branko ; 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. ; Curró, Aurora ; Dalla Bernardina, Bernardo ; Doan, Ryan ; Domenici, Enrico ; Dong, Shan ; Fallerini, Chiara ; Fernández-Prieto, Montserrat ; Ferrero, Giovanni Battista ; Nordentoft, Merete ; Werge, Thomas ; Appadurai, Vivek ; Bækvad-Hansen, Marie ; Hansen, Christine S. ; Pedersen, Carsten Bøcker ; iPSYCH-Broad Consortium ; Autism Sequencing Consortium. / Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. In: Cell. 2020 ; Vol. 180, No. 3. pp. 568-584.e23.

Bibtex

@article{aff1333faaae491986b379fbc296dc9b,
title = "Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism",
abstract = "Large-scale sequencing of patients with autism allows identification of over 100 putative ASD-associated genes, the majority of which are neuronally expressed, and investigation of distinct genetic influences on ASD compared with other neurodevelopmental disorders.",
keywords = "autism spectrum disorder, cell type, cytoskeleton, excitatory neurons, excitatory-inhibitory balance, exome sequencing, genetics, inhibitory neurons, liability, neurodevelopment",
author = "Satterstrom, {F. Kyle} and Kosmicki, {Jack A.} and Jiebiao Wang and Breen, {Michael S.} and {De Rubeis}, Silvia and An, {Joon Yong} and Minshi Peng and Ryan Collins and Jakob Grove and Lambertus Klei and Christine Stevens and Jennifer Reichert and Mulhern, {Maureen S.} and Mykyta Artomov and Sherif Gerges and Brooke Sheppard and Xinyi Xu and Aparna Bhaduri and Utku Norman and Harrison Brand and Grace Schwartz and Rachel Nguyen and Guerrero, {Elizabeth E.} and Caroline Dias and Branko Aleksic and Richard Anney and Mafalda Barbosa and Somer Bishop and Alfredo Brusco and Jonas Bybjerg-Grauholm and Angel Carracedo and Chan, {Marcus C.Y.} and Chiocchetti, {Andreas G.} and Chung, {Brian H.Y.} and Hilary Coon and Cuccaro, {Michael L.} and Aurora Curr{\'o} and {Dalla Bernardina}, Bernardo and Ryan Doan and Enrico Domenici and Shan Dong and Chiara Fallerini and Montserrat Fern{\'a}ndez-Prieto and Ferrero, {Giovanni Battista} and Merete Nordentoft and Thomas Werge and Vivek Appadurai and Marie B{\ae}kvad-Hansen and Hansen, {Christine S.} and Pedersen, {Carsten B{\o}cker} and {iPSYCH-Broad Consortium} and {Autism Sequencing Consortium}",
year = "2020",
doi = "10.1016/j.cell.2019.12.036",
language = "English",
volume = "180",
pages = "568--584.e23",
journal = "Cell",
issn = "0092-8674",
publisher = "Cell Press",
number = "3",

}

RIS

TY - JOUR

T1 - Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

AU - Satterstrom, F. Kyle

AU - Kosmicki, Jack A.

AU - Wang, Jiebiao

AU - Breen, Michael S.

AU - De Rubeis, Silvia

AU - An, Joon Yong

AU - Peng, Minshi

AU - Collins, Ryan

AU - Grove, Jakob

AU - Klei, Lambertus

AU - Stevens, Christine

AU - Reichert, Jennifer

AU - Mulhern, Maureen S.

AU - Artomov, Mykyta

AU - Gerges, Sherif

AU - Sheppard, Brooke

AU - Xu, Xinyi

AU - Bhaduri, Aparna

AU - Norman, Utku

AU - Brand, Harrison

AU - Schwartz, Grace

AU - Nguyen, Rachel

AU - Guerrero, Elizabeth E.

AU - Dias, Caroline

AU - Aleksic, Branko

AU - Anney, Richard

AU - Barbosa, Mafalda

AU - Bishop, Somer

AU - Brusco, Alfredo

AU - Bybjerg-Grauholm, Jonas

AU - Carracedo, Angel

AU - Chan, Marcus C.Y.

AU - Chiocchetti, Andreas G.

AU - Chung, Brian H.Y.

AU - Coon, Hilary

AU - Cuccaro, Michael L.

AU - Curró, Aurora

AU - Dalla Bernardina, Bernardo

AU - Doan, Ryan

AU - Domenici, Enrico

AU - Dong, Shan

AU - Fallerini, Chiara

AU - Fernández-Prieto, Montserrat

AU - Ferrero, Giovanni Battista

AU - Nordentoft, Merete

AU - Werge, Thomas

AU - Appadurai, Vivek

AU - Bækvad-Hansen, Marie

AU - Hansen, Christine S.

AU - Pedersen, Carsten Bøcker

AU - iPSYCH-Broad Consortium

AU - Autism Sequencing Consortium

PY - 2020

Y1 - 2020

N2 - Large-scale sequencing of patients with autism allows identification of over 100 putative ASD-associated genes, the majority of which are neuronally expressed, and investigation of distinct genetic influences on ASD compared with other neurodevelopmental disorders.

AB - Large-scale sequencing of patients with autism allows identification of over 100 putative ASD-associated genes, the majority of which are neuronally expressed, and investigation of distinct genetic influences on ASD compared with other neurodevelopmental disorders.

KW - autism spectrum disorder

KW - cell type

KW - cytoskeleton

KW - excitatory neurons

KW - excitatory-inhibitory balance

KW - exome sequencing

KW - genetics

KW - inhibitory neurons

KW - liability

KW - neurodevelopment

U2 - 10.1016/j.cell.2019.12.036

DO - 10.1016/j.cell.2019.12.036

M3 - Journal article

C2 - 31981491

AN - SCOPUS:85078664833

VL - 180

SP - 568-584.e23

JO - Cell

JF - Cell

SN - 0092-8674

IS - 3

ER -

ID: 260243575