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Page 1
Variants in ATP5F1B are associated with dominantly inherited dystonia.
Nasca A, Mencacci NE, Invernizzi F, Zech M, Keller Sarmiento IJ, Legati A, Frascarelli C, Bustos BI, Romito LM, Krainc D, Winkelmann J, Carecchio M, Nardocci N, Zorzi G, Prokisch H, Lubbe SJ, Garavaglia B, Ghezzi D. Nasca A, et al. Among authors: bustos bi. Brain. 2023 Jul 3;146(7):2730-2738. doi: 10.1093/brain/awad068. Brain. 2023. PMID: 36860166 Free PMC article.
Wnt/β-catenin signaling in Alzheimer's disease.
De Ferrari GV, Avila ME, Medina MA, Perez-Palma E, Bustos BI, Alarcon MA. De Ferrari GV, et al. Among authors: bustos bi. CNS Neurol Disord Drug Targets. 2014;13(5):745-54. doi: 10.2174/1871527312666131223113900. CNS Neurol Disord Drug Targets. 2014. PMID: 24365184 Review.
Gallbladder Cancer Risk and Indigenous South American Mapuche Ancestry: Instrumental Variable Analysis Using Ancestry-Informative Markers.
Zollner L, Boekstegers F, Barahona Ponce C, Scherer D, Marcelain K, Gárate-Calderón V, Waldenberger M, Morales E, Rojas A, Munoz C, Retamales J, De Toro G, Kortmann AV, Barajas O, Rivera MT, Cortés A, Loader D, Saavedra J, Gutiérrez L, Ortega A, Bertrán ME, Bartolotti L, Gabler F, Campos M, Alvarado J, Moisán F, Spencer L, Nervi B, Carvajal D, Losada H, Almau M, Fernández P, Olloquequi J, Carter AR, Miquel Poblete JF, Bustos BI, Fuentes Guajardo M, Gonzalez-Jose R, Bortolini MC, Acuña-Alonzo V, Gallo C, Ruiz Linares A, Rothhammer F, Lorenzo Bermejo J. Zollner L, et al. Among authors: bustos bi. Cancers (Basel). 2023 Aug 9;15(16):4033. doi: 10.3390/cancers15164033. Cancers (Basel). 2023. PMID: 37627062 Free PMC article.
Replication assessment of NUS1 variants in Parkinson's disease.
Bustos BI, Bandres-Ciga S, Gibbs JR, Krainc D, Mencacci NE, Gan-Or Z, Lubbe SJ; International Parkinson's Disease Genomics Consortium (IPDGC). Bustos BI, et al. Neurobiol Aging. 2021 May;101:300.e1-300.e3. doi: 10.1016/j.neurobiolaging.2020.11.007. Epub 2020 Nov 13. Neurobiol Aging. 2021. PMID: 33309333 Free PMC article.
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.
Meng L, Isohanni P, Shao Y, Graham BH, Hickey SE, Brooks S, Suomalainen A, Joset P, Steindl K, Rauch A, Hackenberg A, High FA, Armstrong-Javors A, Mencacci NE, Gonzàlez-Latapi P, Kamel WA, Al-Hashel JY, Bustos BI, Hernandez AV, Krainc D, Lubbe SJ, Van Esch H, De Luca C, Ballon K, Ravelli C, Burglen L, Qebibo L, Calame DG, Mitani T, Marafi D, Pehlivan D, Saadi NW, Sahin Y, Maroofian R, Efthymiou S, Houlden H, Maqbool S, Rahman F, Gu S, Posey JE, Lupski JR, Hunter JV, Wangler MF, Carroll CJ, Yang Y. Meng L, et al. Among authors: bustos bi. Ann Neurol. 2021 Apr;89(4):828-833. doi: 10.1002/ana.26019. Epub 2021 Feb 8. Ann Neurol. 2021. PMID: 33443317 Free article.
Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.
Lubbe SJ, Bustos BI, Hu J, Krainc D, Joseph T, Hehir J, Tan M, Zhang W, Escott-Price V, Williams NM, Blauwendraat C, Singleton AB, Morris HR; for International Parkinson’s Disease Genomics Consortium (IPDGC). Lubbe SJ, et al. Among authors: bustos bi. Hum Mol Genet. 2021 Mar 25;30(1):78-86. doi: 10.1093/hmg/ddaa273. Hum Mol Genet. 2021. PMID: 33448283 Free PMC article.
Homozygous might be hemizygous: CRISPR/Cas9 editing in iPSCs results in detrimental on-target defects that escape standard quality controls.
Simkin D, Papakis V, Bustos BI, Ambrosi CM, Ryan SJ, Baru V, Williams LA, Dempsey GT, McManus OB, Landers JE, Lubbe SJ, George AL Jr, Kiskinis E. Simkin D, et al. Among authors: bustos bi. Stem Cell Reports. 2022 Apr 12;17(4):993-1008. doi: 10.1016/j.stemcr.2022.02.008. Epub 2022 Mar 10. Stem Cell Reports. 2022. PMID: 35276091 Free PMC article.
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