Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2012 1
2013 2
2014 2
2017 5
2018 2
2019 4
2020 4
2022 2
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

20 results

Results by year

Filters applied: . Clear all
Page 1
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.
Fu JM, Satterstrom FK, Peng M, Brand H, Collins RL, Dong S, Wamsley B, Klei L, Wang L, Hao SP, Stevens CR, Cusick C, Babadi M, Banks E, Collins B, Dodge S, Gabriel SB, Gauthier L, Lee SK, Liang L, Ljungdahl A, Mahjani B, Sloofman L, Smirnov AN, Barbosa M, Betancur C, Brusco A, Chung BHY, Cook EH, Cuccaro ML, Domenici E, Ferrero GB, Gargus JJ, Herman GE, Hertz-Picciotto I, Maciel P, Manoach DS, Passos-Bueno MR, Persico AM, Renieri A, Sutcliffe JS, Tassone F, Trabetti E, Campos G, Cardaropoli S, Carli D, Chan MCY, Fallerini C, Giorgio E, Girardi AC, Hansen-Kiss E, Lee SL, Lintas C, Ludena Y, Nguyen R, Pavinato L, Pericak-Vance M, Pessah IN, Schmidt RJ, Smith M, Costa CIS, Trajkova S, Wang JYT, Yu MHC; Autism Sequencing Consortium (ASC); Broad Institute Center for Common Disease Genomics (Broad-CCDG); iPSYCH-BROAD Consortium; Cutler DJ, De Rubeis S, Buxbaum JD, Daly MJ, Devlin B, Roeder K, Sanders SJ, Talkowski ME. Fu JM, et al. Nat Genet. 2022 Sep;54(9):1320-1331. doi: 10.1038/s41588-022-01104-0. Epub 2022 Aug 18. Nat Genet. 2022. PMID: 35982160 Free PMC article.
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis.
Pavinato L, Villamor-Payà 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 FC, Antona V, Giuffrè M, Ranguin K, Colson C, De Rubeis S, Dimartino P, Buxbaum JD, Ferrero GB, Tartaglia M, Martinelli S, Stracker TH, Brusco A. Pavinato L, et al. J Med Genet. 2022 Feb;59(2):170-179. doi: 10.1136/jmedgenet-2020-107281. Epub 2020 Dec 15. J Med Genet. 2022. PMID: 33323470 Free PMC article.
Maternal Effects as Causes of Risk for Obsessive-Compulsive Disorder.
Mahjani B, Klei L, Hultman CM, Larsson H, Devlin B, Buxbaum JD, Sandin S, Grice DE. Mahjani B, et al. Biol Psychiatry. 2020 Jun 15;87(12):1045-1051. doi: 10.1016/j.biopsych.2020.01.006. Epub 2020 Jan 22. Biol Psychiatry. 2020. PMID: 32199606 Free PMC article.
Recessive gene disruptions in autism spectrum disorder.
Doan RN, Lim ET, De Rubeis S, Betancur C, Cutler DJ, Chiocchetti AG, Overman LM, Soucy A, Goetze S; Autism Sequencing Consortium; Freitag CM, Daly MJ, Walsh CA, Buxbaum JD, Yu TW. Doan RN, et al. Nat Genet. 2019 Jul;51(7):1092-1098. doi: 10.1038/s41588-019-0433-8. Epub 2019 Jun 17. Nat Genet. 2019. PMID: 31209396 Free PMC article.
Recurrence Risk of Autism in Siblings and Cousins: A Multinational, Population-Based Study.
Hansen SN, Schendel DE, Francis RW, Windham GC, Bresnahan M, Levine SZ, Reichenberg A, Gissler M, Kodesh A, Bai D, Yip BHK, Leonard H, Sandin S, Buxbaum JD, Hultman C, Sourander A, Glasson EJ, Wong K, Öberg R, Parner ET. Hansen SN, et al. J Am Acad Child Adolesc Psychiatry. 2019 Sep;58(9):866-875. doi: 10.1016/j.jaac.2018.11.017. Epub 2019 Mar 6. J Am Acad Child Adolesc Psychiatry. 2019. PMID: 30851399 Free PMC article.
Identification of common genetic risk variants for autism spectrum disorder.
Grove J, Ripke S, Als TD, Mattheisen M, Walters RK, Won H, Pallesen J, Agerbo E, Andreassen OA, Anney R, Awashti S, Belliveau R, Bettella F, Buxbaum JD, Bybjerg-Grauholm J, Bækvad-Hansen M, Cerrato F, Chambert K, Christensen JH, Churchhouse C, Dellenvall K, Demontis D, De Rubeis S, Devlin B, Djurovic S, Dumont AL, Goldstein JI, Hansen CS, Hauberg ME, Hollegaard MV, Hope S, Howrigan DP, Huang H, Hultman CM, Klei L, Maller J, Martin J, Martin AR, Moran JL, Nyegaard M, Nærland T, Palmer DS, Palotie A, Pedersen CB, Pedersen MG, dPoterba T, Poulsen JB, Pourcain BS, Qvist P, Rehnström K, Reichenberg A, Reichert J, Robinson EB, Roeder K, Roussos P, Saemundsen E, Sandin S, Satterstrom FK, Davey Smith G, Stefansson H, Steinberg S, Stevens CR, Sullivan PF, Turley P, Walters GB, Xu X; Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium; BUPGEN; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium; 23andMe Research Team; Stefansson K, Geschwind DH, Nordentoft M, Hougaard DM, Werge T, Mors O, Mortensen PB, Neale BM, Daly MJ, Børglum AD. Grove J, et al. Nat Genet. 2019 Mar;51(3):431-444. doi: 10.1038/s41588-019-0344-8. Epub 2019 Feb 25. Nat Genet. 2019. PMID: 30804558 Free PMC article.
20 results