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Year Number of Results
2010 6
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2012 4
2013 3
2014 4
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2016 10
2017 5
2018 13
2019 10
2020 20
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2022 24
2023 12
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124 results

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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.
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.
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; Autism Sequencing Consortium; iPSYCH-Broad Consortium; Betancur C, Cook EH, Gallagher L, Gill M, Sutcliffe JS, Thurm A, Zwick ME, Børglum AD, State MW, Cicek AE, Talkowski ME, Cutler DJ, Devlin B, Sanders SJ, Roeder K, Daly MJ, Buxbaum JD. Satterstrom FK, et al. Cell. 2020 Feb 6;180(3):568-584.e23. doi: 10.1016/j.cell.2019.12.036. Epub 2020 Jan 23. Cell. 2020. PMID: 31981491 Free PMC article.
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Rots D, Jakub TE, Keung C, Jackson A, Banka S, Pfundt R, de Vries BBA, van Jaarsveld RH, Hopman SMJ, van Binsbergen E, Valenzuela I, Hempel M, Bierhals T, Kortüm F, Lecoquierre F, Goldenberg A, Hertz JM, Andersen CB, Kibæk M, Prijoles EJ, Stevenson RE, Everman DB, Patterson WG, Meng L, Gijavanekar C, De Dios K, Lakhani S, Levy T, Wagner M, Wieczorek D, Benke PJ, Lopez Garcia MS, Perrier R, Sousa SB, Almeida PM, Simões MJ, Isidor B, Deb W, Schmanski AA, Abdul-Rahman O, Philippe C, Bruel AL, Faivre L, Vitobello A, Thauvin C, Smits JJ, Garavelli L, Caraffi SG, Peluso F, Davis-Keppen L, Platt D, Royer E, Leeuwen L, Sinnema M, Stegmann APA, Stumpel CTRM, Tiller GE, Bosch DGM, Potgieter ST, Joss S, Splitt M, Holden S, Prapa M, Foulds N, Douzgou S, Puura K, Waltes R, Chiocchetti AG, Freitag CM, Satterstrom FK, De Rubeis S, Buxbaum J, Gelb BD, Branko A, Kushima I, Howe J, Scherer SW, Arado A, Baldo C, Patat O, Bénédicte D, Lopergolo D, Santorelli FM, Haack TB, Dufke A, Bertrand M, Falb RJ, Rieß A, Krieg P, Spranger S, Bedeschi MF, Iascone M, Josephi-Taylor S, Roscioli T, Buckley MF, Liebelt J, Dagli AI, Aten E, Hurst ACE, Hicks A, Suri M, Aliu E, Naik S, Sidlow R, Coursimault J, Ni… See abstract for full author list ➔ Rots D, et al. Among authors: kushima i. Am J Hum Genet. 2023 Jun 1;110(6):963-978. doi: 10.1016/j.ajhg.2023.04.008. Epub 2023 May 16. Am J Hum Genet. 2023. PMID: 37196654 Free PMC article.
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
Lim ET, Uddin M, De Rubeis S, Chan Y, Kamumbu AS, Zhang X, D'Gama AM, Kim SN, Hill RS, Goldberg AP, Poultney C, Minshew NJ, Kushima I, Aleksic B, Ozaki N, Parellada M, Arango C, Penzol MJ, Carracedo A, Kolevzon A, Hultman CM, Weiss LA, Fromer M, Chiocchetti AG, Freitag CM; Autism Sequencing Consortium; Church GM, Scherer SW, Buxbaum JD, Walsh CA. Lim ET, et al. Among authors: kushima i. Nat Neurosci. 2017 Sep;20(9):1217-1224. doi: 10.1038/nn.4598. Epub 2017 Jul 17. Nat Neurosci. 2017. PMID: 28714951 Free PMC article.
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Kushima I, Aleksic B, Nakatochi M, Shimamura T, Okada T, Uno Y, Morikawa M, Ishizuka K, Shiino T, Kimura H, Arioka Y, Yoshimi A, Takasaki Y, Yu Y, Nakamura Y, Yamamoto M, Iidaka T, Iritani S, Inada T, Ogawa N, Shishido E, Torii Y, Kawano N, Omura Y, Yoshikawa T, Uchiyama T, Yamamoto T, Ikeda M, Hashimoto R, Yamamori H, Yasuda Y, Someya T, Watanabe Y, Egawa J, Nunokawa A, Itokawa M, Arai M, Miyashita M, Kobori A, Suzuki M, Takahashi T, Usami M, Kodaira M, Watanabe K, Sasaki T, Kuwabara H, Tochigi M, Nishimura F, Yamasue H, Eriguchi Y, Benner S, Kojima M, Yassin W, Munesue T, Yokoyama S, Kimura R, Funabiki Y, Kosaka H, Ishitobi M, Ohmori T, Numata S, Yoshikawa T, Toyota T, Yamakawa K, Suzuki T, Inoue Y, Nakaoka K, Goto YI, Inagaki M, Hashimoto N, Kusumi I, Son S, Murai T, Ikegame T, Okada N, Kasai K, Kunimoto S, Mori D, Iwata N, Ozaki N. Kushima I, et al. Cell Rep. 2018 Sep 11;24(11):2838-2856. doi: 10.1016/j.celrep.2018.08.022. Cell Rep. 2018. PMID: 30208311 Free article.
[Developmental disorders].
Kushima I, Okada T, Ozaki N. Kushima I, et al. Brain Nerve. 2012 Feb;64(2):139-47. Brain Nerve. 2012. PMID: 22308259 Review. Japanese.
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder, Schizophrenia, and Autism Spectrum Disorder.
Kushima I, Nakatochi M, Aleksic B, Okada T, Kimura H, Kato H, Morikawa M, Inada T, Ishizuka K, Torii Y, Nakamura Y, Tanaka S, Imaeda M, Takahashi N, Yamamoto M, Iwamoto K, Nawa Y, Ogawa N, Iritani S, Hayashi Y, Lo T, Otgonbayar G, Furuta S, Iwata N, Ikeda M, Saito T, Ninomiya K, Okochi T, Hashimoto R, Yamamori H, Yasuda Y, Fujimoto M, Miura K, Itokawa M, Arai M, Miyashita M, Toriumi K, Ohi K, Shioiri T, Kitaichi K, Someya T, Watanabe Y, Egawa J, Takahashi T, Suzuki M, Sasaki T, Tochigi M, Nishimura F, Yamasue H, Kuwabara H, Wakuda T, Kato TA, Kanba S, Horikawa H, Usami M, Kodaira M, Watanabe K, Yoshikawa T, Toyota T, Yokoyama S, Munesue T, Kimura R, Funabiki Y, Kosaka H, Jung M, Kasai K, Ikegame T, Jinde S, Numata S, Kinoshita M, Kato T, Kakiuchi C, Yamakawa K, Suzuki T, Hashimoto N, Ishikawa S, Yamagata B, Nio S, Murai T, Son S, Kunii Y, Yabe H, Inagaki M, Goto YI, Okumura Y, Ito T, Arioka Y, Mori D, Ozaki N. Kushima I, et al. Biol Psychiatry. 2022 Sep 1;92(5):362-374. doi: 10.1016/j.biopsych.2022.04.003. Epub 2022 Apr 22. Biol Psychiatry. 2022. PMID: 35667888 Free article.
124 results