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Northwestern University Feinberg School of Medicine
Steven Lubbe Lab

Publications

Learn more about the work we do in the Lubbe Laboratory through our recent publications.

  1. Keller Sarmiento IJ, Bustos BI, Blackburn J, Hac NEF, Ruzhnikov M, Monroe M, Levy RJ, Kinsley L, Li M, Silani V  et al.  De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and Seizures.  Mov Disord  2024 Jul;39(7):1231-1236. doi:10.1002/mds.29791
  2. Gonzalez-Latapi P, Bustos B, Dong S, Lubbe S, Simuni T, Krainc D  Alterations in Blood Methylome as Potential Epigenetic Biomarker in Sporadic Parkinson's Disease.  Ann Neurol  2024 Jun;95(6):1162-1172. doi:10.1002/ana.26923
  3. Belur NR, Bustos BI, Lubbe SJ, Mazzulli JR  Nuclear aggregates of NONO/SFPQ and A-to-I-edited RNA in Parkinson's disease and dementia with Lewy bodies.  Neuron  2024 May 16;. pii:S0896-6273(24)00328-3
  4. Owen GI, Cordova-Delgado M, Bustos BI, Cerpa LC, Gonzalez P, Morales-Pison S, Garcia-Bloj B, Garrido M, Miquel JF, Quiñones LA  Assessing the Occurrence and Influence of Cancer Chemotherapy-Related Pharmacogenetic Alleles in the Chilean Population.  Pharmaceutics  2024 Apr 19;16(4). pii:561
  5. Zollner L, Boekstegers F, Barahona Ponce C, Scherer D, Marcelain K, Gárate-Calderón V, Waldenberger M, Morales E, Rojas A, Munoz C  et al.  Gallbladder Cancer Risk and Indigenous South American Mapuche Ancestry: Instrumental Variable Analysis Using Ancestry-Informative Markers.  Cancers (Basel)  2023 Aug 09;15(16). pii:4033
  6. Nasca A, Mencacci NE, Invernizzi F, Zech M, Keller Sarmiento IJ, Legati A, Frascarelli C, Bustos BI, Romito LM, Krainc D  et al.  Variants in ATP5F1B are associated with dominantly inherited dystonia.  Brain  2023 Jul 03;146(7):2730-2738. doi:10.1093/brain/awad068
  7. Leonard HL, Murtadha R, Martinez-Carrasco A, Jama A, Müller-Nedebock AC, Gil-Martinez AL, Illarionova A, Moore A, Bustos BI, Jadhav B  et al.  Author Correction: The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson's disease data.  NPJ Parkinsons Dis  2023 May 24;9(1):77. pii:77
  8. Senkevich K, Bandres-Ciga S, Cisterna-García A, Yu E, Bustos BI, Krohn L, Lubbe SJ, Botía JA, , Gan-Or Z  Genome-wide association study stratified by MAPT haplotypes identifies potential novel loci in Parkinson's disease.  medRxiv  2023 Apr 15;. pii:2023.04.14.23288478
  9. Leonard HL, Murtadha R, Martinez-Carrasco A, Jama A, Müller-Nedebock AC, Gil-Martinez AL, Illarionova A, Moore A, Bustos BI, Jadhav B  et al.  The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson's disease data.  NPJ Parkinsons Dis  2023 Mar 04;9(1):33. pii:33
  10. Krainc T, Monje MHG, Kinsinger M, Bustos BI, Lubbe SJ  Melanin and Neuromelanin: Linking Skin Pigmentation and Parkinson's Disease.  Mov Disord  2023 Feb;38(2):185-195. doi:10.1002/mds.29260
  11. Bustos BI, Billingsley K, Blauwendraat C, Gibbs JR, Gan-Or Z, Krainc D, Singleton AB, Lubbe SJ,   Genome-wide contribution of common short-tandem repeats to Parkinson's disease genetic risk.  Brain  2023 Jan 05;146(1):65-74. doi:10.1093/brain/awac301
  12. Hu J, Waters CH, Spiegelman D, Fon EA, Yu E, Asayesh F, Krohn L, Saini P, Alcalay RN, Hassin-Baer S  et al.  Gene-based burden analysis of damaging private variants in PRKN, PARK7 and PINK1 in Parkinson's disease cohorts of European descent.  Neurobiol Aging  2022 Nov;119:136-138. doi:10.1016/j.neurobiolaging.2022.07.012
  13. Simkin D, Papakis V, Bustos BI, Ambrosi CM, Ryan SJ, Baru V, Williams LA, Dempsey GT, McManus OB, Landers JE  et al.  Homozygous might be hemizygous: CRISPR/Cas9 editing in iPSCs results in detrimental on-target defects that escape standard quality controls.  Stem Cell Reports  2022 Apr 12;17(4):993-1008. doi:10.1016/j.stemcr.2022.02.008
  14. Zorzi G, Keller Sarmiento IJ, Danti FR, Bustos BI, Invernizzi F, Panteghini C, Reale C, Garavaglia B, Chiapparini L, Lubbe SJ  et al.  YY1-Related Dystonia: Clinical Aspects and Long-Term Response to Deep Brain Stimulation.  Mov Disord  2021 Jun;36(6):1461-1462. doi:10.1002/mds.28547
  15. Bustos BI, Bandres-Ciga S, Gibbs JR, Krainc D, Mencacci NE, Gan-Or Z, Lubbe SJ,   Replication assessment of NUS1 variants in Parkinson's disease.  Neurobiol Aging  2021 May;101:300.e1-300.e3. doi:10.1016/j.neurobiolaging.2020.11.007
  16. Meng L, Isohanni P, Shao Y, Graham BH, Hickey SE, Brooks S, Suomalainen A, Joset P, Steindl K, Rauch A  et al.  MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.  Ann Neurol  2021 Apr;89(4):828-833. doi:10.1002/ana.26019
  17. Lubbe SJ, Bustos BI, Hu J, Krainc D, Joseph T, Hehir J, Tan M, Zhang W, Escott-Price V, Williams NM  et al.  Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.  Hum Mol Genet  2021 Mar 25;30(1):78-86. doi:10.1093/hmg/ddaa273
  18. Simkin D, Marshall KA, Vanoye CG, Desai RR, Bustos BI, Piyevsky BN, Ortega JA, Forrest M, Robertson GL, Penzes P  et al.  Dyshomeostatic modulation of Ca2+-activated K+ channels in a human neuronal model of KCNQ2 encephalopathy.  Elife  2021 Feb 05;10. pii:e64434
  19. Steel D, Zech M, Zhao C, Barwick KES, Burke D, Demailly D, Kumar KR, Zorzi G, Nardocci N, Kaiyrzhanov R  et al.  Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.  Ann Neurol  2020 Nov;88(5):867-877. doi:10.1002/ana.25879