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

Year Number of Results
2002 4
2003 4
2004 10
2005 8
2006 13
2007 13
2008 5
2009 7
2010 13
2011 10
2012 11
2013 15
2014 21
2015 17
2016 19
2017 34
2018 28
2019 31
2020 42
2021 61
2022 45
2023 25
2024 30
2025 34
2026 15

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442 results

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Page 1
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
Chowdhury F, Wang L, Al-Raqad M, Amor DJ, Baxová A, Bendová Š, Biamino E, Brusco A, Caluseriu O, Cox NJ, Froukh T, Gunay-Aygun M, Hančárová M, Haynes D, Heide S, Hoganson G, Kaname T, Keren B, Kosaki K, Kubota K, Lemons JM, Magriña MA, Mark PR, McDonald MT, Montgomery S, Morley GM, Ohnishi H, Okamoto N, Rodriguez-Buritica D, Rump P, Sedláček Z, Schatz K, Streff H, Uehara T, Walia JS, Wheeler PG, Wiesener A, Zweier C, Kawakami K, Wentzensen IM, Lalani SR, Siu VM, Bi W, Balci TB. Chowdhury F, et al. Among authors: kosaki k. Genet Med. 2021 Jul;23(7):1234-1245. doi: 10.1038/s41436-021-01129-6. Epub 2021 Apr 6. Genet Med. 2021. PMID: 33824499 Free article.
De novo variant in RING finger protein 213 causes systemic vasculopathy.
Kashimada A, Mizuno T, Tanaka E, Hosokawa S, Udagawa T, Hiraoka Y, Uchida K, Morio T, Kosaki K, Takagi M. Kashimada A, et al. Among authors: kosaki k. JCI Insight. 2025 Jun 9;10(11):e190094. doi: 10.1172/jci.insight.190094. eCollection 2025 Jun 9. JCI Insight. 2025. PMID: 40485582 Free PMC article.
Clonal Hematopoiesis in Chronic Thromboembolic Pulmonary Hypertension.
Momoi M, Katsumata Y, Kunimoto H, Inami T, Miya F, Anzai A, Goto S, Miura A, Shinya Y, Hiraide T, Shirakawa K, Endo J, Fukuda K, Ieda M, Kosaki K, Nakajima H, Kataoka M. Momoi M, et al. Among authors: kosaki k. J Am Heart Assoc. 2024 Dec 3;13(23):e035498. doi: 10.1161/JAHA.124.035498. Epub 2024 Nov 27. J Am Heart Assoc. 2024. PMID: 39604025 Free PMC article.
Increased PDGFRB and NF-κB signaling caused by highly prevalent somatic mutations in intracranial aneurysms.
Shima Y, Sasagawa S, Ota N, Oyama R, Tanaka M, Kubota-Sakashita M, Kawakami H, Kobayashi M, Takubo N, Ozeki AN, Sun X, Kim YJ, Kamatani Y, Matsuda K, Maejima K, Fujita M, Noda K, Kamiyama H, Tanikawa R, Nagane M, Shibahara J, Tanaka T, Rikitake Y, Mataga N, Takahashi S, Kosaki K, Okano H, Furihata T, Nakaki R, Akimitsu N, Wada Y, Ohtsuka T, Kurihara H, Kamiguchi H, Okabe S, Nakafuku M, Kato T, Nakagawa H, Saito N, Nakatomi H. Shima Y, et al. Among authors: kosaki k. Sci Transl Med. 2023 Jun 14;15(700):eabq7721. doi: 10.1126/scitranslmed.abq7721. Epub 2023 Jun 14. Sci Transl Med. 2023. PMID: 37315111
Gene-specific somatic epigenetic mosaicism of FDFT1 underlies a non-hereditary localized form of porokeratosis.
Saito S, Saito Y, Sato S, Aoki S, Fujita H, Ito Y, Ono N, Funakoshi T, Kawai T, Suzuki H, Sasaki T, Tanaka T, Inoie M, Hata K, Kataoka K, Kosaki K, Amagai M, Nakabayashi K, Kubo A. Saito S, et al. Among authors: kosaki k. Am J Hum Genet. 2024 May 2;111(5):896-912. doi: 10.1016/j.ajhg.2024.03.017. Epub 2024 Apr 22. Am J Hum Genet. 2024. PMID: 38653249 Free PMC article.
'Knowing and Treating Kosaki/Penttinen syndrome' international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitors.
Bouhatous YM, Bredrup C, Maurer A, Mirakovska L, Foster A, Kosaki K, Jost C, Demoulin JB, Luu M, Vabres P, Kurtz JE, Schaefer E, Guimier A, Cormier-Daire V, Lim D, Thompson S, Olson L, Kwon HR, Aguirre-Rodriguez C, Hernandez-Dorronsoro U, Martinez-Soroa I, Iznardo H, Mascaró JM, Baselga E, Kalantari S, Mussa A, Gazzin A, Carli D, Svinvik I, Mutlu-Albayrak H, Bluefeather S, Zarate Y, Takenouchi T, Naicker T, Chateau A, Gokhul A, Dube-Pule A, Haniffa M, Ong Peitee W, Nordgren A, Carpentier M, Binquet C, Briffaut AS, Bal L, Pond D, Rustad CF, Bardou M, Faivre L. Bouhatous YM, et al. Among authors: kosaki k. J Med Genet. 2025 Sep 19;62(10):656-663. doi: 10.1136/jmg-2024-110600. J Med Genet. 2025. PMID: 40707250
RHOA-associated disorder can be non-mosaic.
Nakato D, Morisada N, Iwatani S, Nishida C, Watanabe D, Yamada M, Suzuki H, Miya F, Kosaki K, Takenouchi T. Nakato D, et al. Among authors: kosaki k. Eur J Med Genet. 2025 Jun;75:105019. doi: 10.1016/j.ejmg.2025.105019. Epub 2025 May 23. Eur J Med Genet. 2025. PMID: 40414526 Free article.
Loss of function in NSD2 causes DNA methylation signature similar to that in Wolf-Hirschhorn syndrome.
Kawai T, Kinoshita S, Takayama Y, Ohnishi E, Kamura H, Kojima K, Kikuchi H, Terao M, Sugawara T, Migita O, Kagami M, Isojima T, Yamaguchi Y, Wakui K, Ohashi H, Shimizu K, Mizuno S, Okamoto N, Fukushima Y, Takada F, Kosaki K, Takada S, Akutsu H, Ura K, Nakabayashi K, Hata K. Kawai T, et al. Among authors: kosaki k. Genet Med Open. 2024 Mar 14;2:101838. doi: 10.1016/j.gimo.2024.101838. eCollection 2024. Genet Med Open. 2024. PMID: 39669601 Free PMC article.
442 results