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Year Number of Results
2013 3
2014 38
2015 41
2016 42
2017 26
2018 38
2019 36
2020 45
2021 42
2022 31
2023 17
2024 5

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310 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.
Common genetic variation influencing human white matter microstructure.
Zhao B, Li T, Yang Y, Wang X, Luo T, Shan Y, Zhu Z, Xiong D, Hauberg ME, Bendl J, Fullard JF, Roussos P, Li Y, Stein JL, Zhu H. Zhao B, et al. Science. 2021 Jun 18;372(6548):eabf3736. doi: 10.1126/science.abf3736. Science. 2021. PMID: 34140357 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.
310 results