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

Year Number of Results
1975 1
1977 2
1978 3
1979 1
1980 3
1981 1
1984 2
1985 3
1986 2
1987 4
1988 3
1989 6
1990 5
1991 4
1992 6
1993 2
1994 7
1995 6
1996 2
1997 7
1998 4
1999 7
2000 6
2001 10
2002 11
2003 4
2004 8
2005 8
2006 3
2007 9
2008 8
2009 2
2010 3
2011 6
2012 5
2013 1
2014 2
2015 4
2016 4
2017 8
2018 8
2019 7
2020 6
2021 6
2022 10
2023 12
2024 3

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223 results

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Page 1
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Zhou X, Feliciano P, Shu C, Wang T, Astrovskaya I, Hall JB, Obiajulu JU, Wright JR, Murali SC, Xu SX, Brueggeman L, Thomas TR, Marchenko O, Fleisch C, Barns SD, Snyder LG, Han B, Chang TS, Turner TN, Harvey WT, Nishida A, O'Roak BJ, Geschwind DH; SPARK Consortium; Michaelson JJ, Volfovsky N, Eichler EE, Shen Y, Chung WK. Zhou X, et al. Nat Genet. 2022 Sep;54(9):1305-1319. doi: 10.1038/s41588-022-01148-2. Epub 2022 Aug 18. Nat Genet. 2022. PMID: 35982159 Free PMC article.
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T, Hoekzema K, Vecchio D, Wu H, Sulovari A, Coe BP, Gillentine MA, Wilfert AB, Perez-Jurado LA, Kvarnung M, Sleyp Y, Earl RK, Rosenfeld JA, Geisheker MR, Han L, Du B, Barnett C, Thompson E, Shaw M, Carroll R, Friend K, Catford R, Palmer EE, Zou X, Ou J, Li H, Guo H, Gerdts J, Avola E, Calabrese G, Elia M, Greco D, Lindstrand A, Nordgren A, Anderlid BM, Vandeweyer G, Van Dijck A, Van der Aa N, McKenna B, Hancarova M, Bendova S, Havlovicova M, Malerba G, Bernardina BD, Muglia P, van Haeringen A, Hoffer MJV, Franke B, Cappuccio G, Delatycki M, Lockhart PJ, Manning MA, Liu P, Scheffer IE, Brunetti-Pierri N, Rommelse N, Amaral DG, Santen GWE, Trabetti E, Sedláček Z, Michaelson JJ, Pierce K, Courchesne E, Kooy RF; SPARK Consortium; Nordenskjöld M, Romano C, Peeters H, Bernier RA, Gecz J, Xia K, Eichler EE. Wang T, et al. Among authors: courchesne e. Nat Commun. 2020 Oct 1;11(1):4932. doi: 10.1038/s41467-020-18723-y. Nat Commun. 2020. PMID: 33004838 Free PMC article.
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
Stessman HA, Xiong B, Coe BP, Wang T, Hoekzema K, Fenckova M, Kvarnung M, Gerdts J, Trinh S, Cosemans N, Vives L, Lin J, Turner TN, Santen G, Ruivenkamp C, Kriek M, van Haeringen A, Aten E, Friend K, Liebelt J, Barnett C, Haan E, Shaw M, Gecz J, Anderlid BM, Nordgren A, Lindstrand A, Schwartz C, Kooy RF, Vandeweyer G, Helsmoortel C, Romano C, Alberti A, Vinci M, Avola E, Giusto S, Courchesne E, Pramparo T, Pierce K, Nalabolu S, Amaral DG, Scheffer IE, Delatycki MB, Lockhart PJ, Hormozdiari F, Harich B, Castells-Nobau A, Xia K, Peeters H, Nordenskjöld M, Schenck A, Bernier RA, Eichler EE. Stessman HA, et al. Among authors: courchesne e. Nat Genet. 2017 Apr;49(4):515-526. doi: 10.1038/ng.3792. Epub 2017 Feb 13. Nat Genet. 2017. PMID: 28191889 Free PMC article.
Brain charts for the human lifespan.
Bethlehem RAI, Seidlitz J, White SR, Vogel JW, Anderson KM, Adamson C, Adler S, Alexopoulos GS, Anagnostou E, Areces-Gonzalez A, Astle DE, Auyeung B, Ayub M, Bae J, Ball G, Baron-Cohen S, Beare R, Bedford SA, Benegal V, Beyer F, Blangero J, Blesa Cábez M, Boardman JP, Borzage M, Bosch-Bayard JF, Bourke N, Calhoun VD, Chakravarty MM, Chen C, Chertavian C, Chetelat G, Chong YS, Cole JH, Corvin A, Costantino M, Courchesne E, Crivello F, Cropley VL, Crosbie J, Crossley N, Delarue M, Delorme R, Desrivieres S, Devenyi GA, Di Biase MA, Dolan R, Donald KA, Donohoe G, Dunlop K, Edwards AD, Elison JT, Ellis CT, Elman JA, Eyler L, Fair DA, Feczko E, Fletcher PC, Fonagy P, Franz CE, Galan-Garcia L, Gholipour A, Giedd J, Gilmore JH, Glahn DC, Goodyer IM, Grant PE, Groenewold NA, Gunning FM, Gur RE, Gur RC, Hammill CF, Hansson O, Hedden T, Heinz A, Henson RN, Heuer K, Hoare J, Holla B, Holmes AJ, Holt R, Huang H, Im K, Ipser J, Jack CR Jr, Jackowski AP, Jia T, Johnson KA, Jones PB, Jones DT, Kahn RS, Karlsson H, Karlsson L, Kawashima R, Kelley EA, Kern S, Kim KW, Kitzbichler MG, Kremen WS, Lalonde F, Landeau B, Lee S, Lerch J, Lewis JD, Li J, Liao W, Liston C, Lombardo MV, Lv J, Lynch C,… See abstract for full author list ➔ Bethlehem RAI, et al. Among authors: courchesne e. Nature. 2022 Apr;604(7906):525-533. doi: 10.1038/s41586-022-04554-y. Epub 2022 Apr 6. Nature. 2022. PMID: 35388223 Free PMC article.
Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development.
Chung C, Yang X, Bae T, Vong KI, Mittal S, Donkels C, Westley Phillips H, Li Z, Marsh APL, Breuss MW, Ball LL, Garcia CAB, George RD, Gu J, Xu M, Barrows C, James KN, Stanley V, Nidhiry AS, Khoury S, Howe G, Riley E, Xu X, Copeland B, Wang Y, Kim SH, Kang HC, Schulze-Bonhage A, Haas CA, Urbach H, Prinz M, Limbrick DD Jr, Gurnett CA, Smyth MD, Sattar S, Nespeca M, Gonda DD, Imai K, Takahashi Y, Chen HH, Tsai JW, Conti V, Guerrini R, Devinsky O, Silva WA Jr, Machado HR, Mathern GW, Abyzov A, Baldassari S, Baulac S; Focal Cortical Dysplasia Neurogenetics Consortium; Brain Somatic Mosaicism Network; Gleeson JG. Chung C, et al. Nat Genet. 2023 Feb;55(2):209-220. doi: 10.1038/s41588-022-01276-9. Epub 2023 Jan 12. Nat Genet. 2023. PMID: 36635388 Free PMC article.
A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex.
Antaki D, Guevara J, Maihofer AX, Klein M, Gujral M, Grove J, Carey CE, Hong O, Arranz MJ, Hervas A, Corsello C, Vaux KK, Muotri AR, Iakoucheva LM, Courchesne E, Pierce K, Gleeson JG, Robinson EB, Nievergelt CM, Sebat J. Antaki D, et al. Among authors: courchesne e. Nat Genet. 2022 Sep;54(9):1284-1292. doi: 10.1038/s41588-022-01064-5. Epub 2022 Jun 2. Nat Genet. 2022. PMID: 35654974 Free PMC article.
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes.
Feliciano P, Zhou X, Astrovskaya I, Turner TN, Wang T, Brueggeman L, Barnard R, Hsieh A, Snyder LG, Muzny DM, Sabo A; SPARK Consortium; Gibbs RA, Eichler EE, O'Roak BJ, Michaelson JJ, Volfovsky N, Shen Y, Chung WK. Feliciano P, et al. NPJ Genom Med. 2019 Aug 23;4:19. doi: 10.1038/s41525-019-0093-8. eCollection 2019. NPJ Genom Med. 2019. PMID: 31452935 Free PMC article.
Autism.
Courchesne E. Courchesne E. New Dir Ment Health Serv. 1992 Summer;(54):19-23. doi: 10.1002/yd.23319925405. New Dir Ment Health Serv. 1992. PMID: 1625655 Review. No abstract available.
Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability.
Bae T, Fasching L, Wang Y, Shin JH, Suvakov M, Jang Y, Norton S, Dias C, Mariani J, Jourdon A, Wu F, Panda A, Pattni R, Chahine Y, Yeh R, Roberts RC, Huttner A, Kleinman JE, Hyde TM, Straub RE, Walsh CA; Brain Somatic Mosaicism Network§; Urban AE, Leckman JF, Weinberger DR, Vaccarino FM, Abyzov A. Bae T, et al. Science. 2022 Jul 29;377(6605):511-517. doi: 10.1126/science.abm6222. Epub 2022 Jul 28. Science. 2022. PMID: 35901164 Free PMC article.
Publisher Correction: Brain charts for the human lifespan.
Bethlehem RAI, Seidlitz J, White SR, Vogel JW, Anderson KM, Adamson C, Adler S, Alexopoulos GS, Anagnostou E, Areces-Gonzalez A, Astle DE, Auyeung B, Ayub M, Bae J, Ball G, Baron-Cohen S, Beare R, Bedford SA, Benegal V, Beyer F, Blangero J, Blesa Cábez M, Boardman JP, Borzage M, Bosch-Bayard JF, Bourke N, Calhoun VD, Chakravarty MM, Chen C, Chertavian C, Chetelat G, Chong YS, Cole JH, Corvin A, Costantino M, Courchesne E, Crivello F, Cropley VL, Crosbie J, Crossley N, Delarue M, Delorme R, Desrivieres S, Devenyi GA, Di Biase MA, Dolan R, Donald KA, Donohoe G, Dunlop K, Edwards AD, Elison JT, Ellis CT, Elman JA, Eyler L, Fair DA, Feczko E, Fletcher PC, Fonagy P, Franz CE, Galan-Garcia L, Gholipour A, Giedd J, Gilmore JH, Glahn DC, Goodyer IM, Grant PE, Groenewold NA, Gunning FM, Gur RE, Gur RC, Hammill CF, Hansson O, Hedden T, Heinz A, Henson RN, Heuer K, Hoare J, Holla B, Holmes AJ, Holt R, Huang H, Im K, Ipser J, Jack CR Jr, Jackowski AP, Jia T, Johnson KA, Jones PB, Jones DT, Kahn RS, Karlsson H, Karlsson L, Kawashima R, Kelley EA, Kern S, Kim KW, Kitzbichler MG, Kremen WS, Lalonde F, Landeau B, Lee S, Lerch J, Lewis JD, Li J, Liao W, Liston C, Lombardo MV, Lv J, Lynch C,… See abstract for full author list ➔ Bethlehem RAI, et al. Among authors: courchesne e. Nature. 2022 Oct;610(7931):E6. doi: 10.1038/s41586-022-05300-0. Nature. 2022. PMID: 36151472 Free PMC article. No abstract available.
223 results