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Year Number of Results
2004 1
2005 1
2006 2
2008 3
2009 8
2010 7
2011 6
2012 8
2013 15
2014 32
2015 24
2016 28
2017 23
2018 14
2019 33
2020 30
2021 27
2022 21
2023 15
2024 17

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295 results

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Page 1
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
Cousin MA, Creighton BA, Breau KA, Spillmann RC, Torti E, Dontu S, Tripathi S, Ajit D, Edwards RJ, Afriyie S, Bay JC, Harper KM, Beltran AA, Munoz LJ, Falcon Rodriguez L, Stankewich MC, Person RE, Si Y, Normand EA, Blevins A, May AS, Bier L, Aggarwal V, Mancini GMS, van Slegtenhorst MA, Cremer K, Becker J, Engels H, Aretz S, MacKenzie JJ, Brilstra E, van Gassen KLI, van Jaarsveld RH, Oegema R, Parsons GM, Mark P, Helbig I, McKeown SE, Stratton R, Cogne B, Isidor B, Cacheiro P, Smedley D, Firth HV, Bierhals T, Kloth K, Weiss D, Fairley C, Shieh JT, Kritzer A, Jayakar P, Kurtz-Nelson E, Bernier RA, Wang T, Eichler EE, van de Laar IMBH, McConkie-Rosell A, McDonald MT, Kemppainen J, Lanpher BC, Schultz-Rogers LE, Gunderson LB, Pichurin PN, Yoon G, Zech M, Jech R, Winkelmann J; Undiagnosed Diseases Network; Genomics England Research Consortium; Beltran AS, Zimmermann MT, Temple B, Moy SS, Klee EW, Tan QK, Lorenzo DN. Cousin MA, et al. Nat Genet. 2021 Jul;53(7):1006-1021. doi: 10.1038/s41588-021-00886-z. Epub 2021 Jul 1. Nat Genet. 2021. PMID: 34211179 Free PMC article.
Phase separation drives aberrant chromatin looping and cancer development.
Ahn JH, Davis ES, Daugird TA, Zhao S, Quiroga IY, Uryu H, Li J, Storey AJ, Tsai YH, Keeley DP, Mackintosh SG, Edmondson RD, Byrum SD, Cai L, Tackett AJ, Zheng D, Legant WR, Phanstiel DH, Wang GG. Ahn JH, et al. Nature. 2021 Jul;595(7868):591-595. doi: 10.1038/s41586-021-03662-5. Epub 2021 Jun 23. Nature. 2021. PMID: 34163069 Free PMC article.
USP13 promotes deubiquitination of ZHX2 and tumorigenesis in kidney cancer.
Xie H, Zhou J, Liu X, Xu Y, Hepperla AJ, Simon JM, Wang T, Yao H, Liao C, Baldwin AS, Gong K, Zhang Q. Xie H, et al. Proc Natl Acad Sci U S A. 2022 Sep 6;119(36):e2119854119. doi: 10.1073/pnas.2119854119. Epub 2022 Aug 29. Proc Natl Acad Sci U S A. 2022. PMID: 36037364 Free PMC article.
VE-Cadherin Is Required for Cardiac Lymphatic Maintenance and Signaling.
Harris NR, Nielsen NR, Pawlak JB, Aghajanian A, Rangarajan K, Serafin DS, Farber G, Dy DM, Nelson-Maney NP, Xu W, Ratra D, Hurr SH, Qian L, Scallan JP, Caron KM. Harris NR, et al. Circ Res. 2022 Jan 7;130(1):5-23. doi: 10.1161/CIRCRESAHA.121.318852. Epub 2021 Nov 18. Circ Res. 2022. PMID: 34789016 Free PMC article.
SARS-CoV-2 Reverse Genetics Reveals a Variable Infection Gradient in the Respiratory Tract.
Hou YJ, Okuda K, Edwards CE, Martinez DR, Asakura T, Dinnon KH 3rd, Kato T, Lee RE, Yount BL, Mascenik TM, Chen G, Olivier KN, Ghio A, Tse LV, Leist SR, Gralinski LE, Schäfer A, Dang H, Gilmore R, Nakano S, Sun L, Fulcher ML, Livraghi-Butrico A, Nicely NI, Cameron M, Cameron C, Kelvin DJ, de Silva A, Margolis DM, Markmann A, Bartelt L, Zumwalt R, Martinez FJ, Salvatore SP, Borczuk A, Tata PR, Sontake V, Kimple A, Jaspers I, O'Neal WK, Randell SH, Boucher RC, Baric RS. Hou YJ, et al. Cell. 2020 Jul 23;182(2):429-446.e14. doi: 10.1016/j.cell.2020.05.042. Epub 2020 May 27. Cell. 2020. PMID: 32526206 Free PMC article.
VHL substrate transcription factor ZHX2 as an oncogenic driver in clear cell renal cell carcinoma.
Zhang J, Wu T, Simon J, Takada M, Saito R, Fan C, Liu XD, Jonasch E, Xie L, Chen X, Yao X, Teh BT, Tan P, Zheng X, Li M, Lawrence C, Fan J, Geng J, Liu X, Hu L, Wang J, Liao C, Hong K, Zurlo G, Parker JS, Auman JT, Perou CM, Rathmell WK, Kim WY, Kirschner MW, Kaelin WG Jr, Baldwin AS, Zhang Q. Zhang J, et al. Science. 2018 Jul 20;361(6399):290-295. doi: 10.1126/science.aap8411. Science. 2018. PMID: 30026228 Free PMC article.
295 results