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

Text availability

Article attribute

Article type

Publication date

Search Results

114 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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.
Oxytocin-induced increases in cytokines and clinical effect on the core social features of autism: Analyses of RCT datasets.
Wakuda T, Benner S, Uemura Y, Nishimura T, Kojima M, Kuroda M, Matsumoto K, Kanai C, Inada N, Harada T, Kameno Y, Munesue T, Inoue J, Umemura K, Yamauchi A, Ogawa N, Kushima I, Suyama S, Saito T, Hamada J, Kano Y, Honda N, Kikuchi S, Seto M, Tomita H, Miyoshi N, Matsumoto M, Kawaguchi Y, Kanai K, Ikeda M, Nakamura I, Isomura S, Hirano Y, Onitsuka T, Ozaki N, Kosaka H, Okada T, Kuwabara H, Yamasue H. Wakuda T, et al. Among authors: kushima i. Brain Behav Immun. 2024 May;118:398-407. doi: 10.1016/j.bbi.2024.03.013. Epub 2024 Mar 8. Brain Behav Immun. 2024. PMID: 38461957
Phenotypes for general behavior, activity, and body temperature in 3q29 deletion model mice.
Mori D, Ikeda R, Sawahata M, Yamaguchi S, Kodama A, Hirao T, Arioka Y, Okumura H, Inami C, Suzuki T, Hayashi Y, Kato H, Nawa Y, Miyata S, Kimura H, Kushima I, Aleksic B, Mizoguchi H, Nagai T, Nakazawa T, Hashimoto R, Kaibuchi K, Kume K, Yamada K, Ozaki N. Mori D, et al. Among authors: kushima i. Transl Psychiatry. 2024 Mar 7;14(1):138. doi: 10.1038/s41398-023-02679-w. Transl Psychiatry. 2024. PMID: 38453903 Free PMC article.
Association between copy number variations in parkin (PRKN) and schizophrenia and autism spectrum disorder: A case-control study.
Lo T, Kushima I, Kimura H, Aleksic B, Okada T, Kato H, Inada T, Nawa Y, Torii Y, Yamamoto M, Kimura R, Funabiki Y, Kosaka H, Numata S, Kasai K, Sasaki T, Yokoyama S, Munesue T, Hashimoto R, Yasuda Y, Fujimoto M, Usami M, Itokawa M, Arai M, Ohi K, Someya T, Watanabe Y, Egawa J, Takahashi T, Suzuki M, Yamasue H, Iwata N, Ikeda M, Ozaki N. Lo T, et al. Among authors: kushima i. Neuropsychopharmacol Rep. 2024 Mar;44(1):42-50. doi: 10.1002/npr2.12370. Epub 2023 Nov 1. Neuropsychopharmacol Rep. 2024. PMID: 37915257 Free PMC article.
Structural aging of human neurons is opposite of the changes in schizophrenia.
Mizutani R, Saiga R, Yamamoto Y, Uesugi M, Takeuchi A, Uesugi K, Terada Y, Suzuki Y, De Andrade V, De Carlo F, Takekoshi S, Inomoto C, Nakamura N, Torii Y, Kushima I, Iritani S, Ozaki N, Oshima K, Itokawa M, Arai M. Mizutani R, et al. Among authors: kushima i. PLoS One. 2023 Jun 23;18(6):e0287646. doi: 10.1371/journal.pone.0287646. eCollection 2023. PLoS One. 2023. PMID: 37352288 Free PMC article.
De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues.
Smits DJ, Schot R, Popescu CA, Dias KR, Ades L, Briere LC, Sweetser DA, Kushima I, Aleksic B, Khan S, Karageorgou V, Ordonez N, Sleutels FJGT, van der Kaay DCM, Van Mol C, Van Esch H, Bertoli-Avella AM, Roscioli T, Mancini GMS. Smits DJ, et al. Among authors: kushima i. Hum Genet. 2023 Jul;142(7):949-964. doi: 10.1007/s00439-023-02569-7. Epub 2023 May 17. Hum Genet. 2023. PMID: 37198333 Free PMC article.
114 results