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2014 1
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2019 4
2020 43
2021 69
2022 77
2023 89
2024 30

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268 results

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Page 1
Spatial multiomics map of trophoblast development in early pregnancy.
Arutyunyan A, Roberts K, Troulé K, Wong FCK, Sheridan MA, Kats I, Garcia-Alonso L, Velten B, Hoo R, Ruiz-Morales ER, Sancho-Serra C, Shilts J, Handfield LF, Marconato L, Tuck E, Gardner L, Mazzeo CI, Li Q, Kelava I, Wright GJ, Prigmore E, Teichmann SA, Bayraktar OA, Moffett A, Stegle O, Turco MY, Vento-Tormo R. Arutyunyan A, et al. Nature. 2023 Apr;616(7955):143-151. doi: 10.1038/s41586-023-05869-0. Epub 2023 Mar 29. Nature. 2023. PMID: 36991123 Free PMC article.
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.
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.
Functional characterization of Alzheimer's disease genetic variants in microglia.
Yang X, Wen J, Yang H, Jones IR, Zhu X, Liu W, Li B, Clelland CD, Luo W, Wong MY, Ren X, Cui X, Song M, Liu H, Chen C, Eng N, Ravichandran M, Sun Y, Lee D, Van Buren E, Jiang MZ, Chan CSY, Ye CJ, Perera RM, Gan L, Li Y, Shen Y. Yang X, et al. Nat Genet. 2023 Oct;55(10):1735-1744. doi: 10.1038/s41588-023-01506-8. Epub 2023 Sep 21. Nat Genet. 2023. PMID: 37735198 Free PMC article.
International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND).
de Vries PJ, Heunis TM, Vanclooster S, Chambers N, Bissell S, Byars AW, Flinn J, Gipson TT, van Eeghen AM, Waltereit R, Capal JK, Cukier S, Davis PE, Smith C, Kingswood JC, Schoeters E, Srivastava S, Takei M, Gardner-Lubbe S, Kumm AJ, Krueger DA, Sahin M, De Waele L, Jansen AC. de Vries PJ, et al. J Neurodev Disord. 2023 Sep 14;15(1):32. doi: 10.1186/s11689-023-09500-1. J Neurodev Disord. 2023. PMID: 37710171 Free PMC article.
268 results