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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. Among authors: beltran aa. 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.
Modulation of tau tubulin kinases (TTBK1 and TTBK2) impacts ciliogenesis.
Bashore FM, Marquez AB, Chaikuad A, Howell S, Dunn AS, Beltran AA, Smith JL, Drewry DH, Beltran AS, Axtman AD. Bashore FM, et al. Among authors: beltran aa. Sci Rep. 2023 Apr 14;13(1):6118. doi: 10.1038/s41598-023-32854-4. Sci Rep. 2023. PMID: 37059819 Free PMC article.
Segmentor: a tool for manual refinement of 3D microscopy annotations.
Borland D, McCormick CM, Patel NK, Krupa O, Mory JT, Beltran AA, Farah TM, Escobar-Tomlienovich CF, Olson SS, Kim M, Wu G, Stein JL. Borland D, et al. Among authors: beltran aa. BMC Bioinformatics. 2021 May 22;22(1):260. doi: 10.1186/s12859-021-04202-8. BMC Bioinformatics. 2021. PMID: 34022787 Free PMC article.
Maternal obesity accelerates rat offspring metabolic ageing in a sex-dependent manner.
Rodríguez-González GL, Reyes-Castro LA, Bautista CJ, Beltrán AA, Ibáñez CA, Vega CC, Lomas-Soria C, Castro-Rodríguez DC, Elías-López AL, Nathanielsz PW, Zambrano E. Rodríguez-González GL, et al. Among authors: beltran aa. J Physiol. 2019 Dec;597(23):5549-5563. doi: 10.1113/JP278232. Epub 2019 Nov 11. J Physiol. 2019. PMID: 31591717 Free article.