| Wnt/β-catenin signaling in Alzheimer’s disease DV Ferrari, M E Avila, M A Medina, E Pérez-Palma, B I Bustos, ... CNS & Neurological Disorders-Drug Targets (Formerly Current Drug Targets-CNS …, 2014 | 109 | 2014 |
| Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities D Steel, M Zech, C Zhao, KES Barwick, D Burke, D Demailly, KR Kumar, ... Annals of neurology 88 (5), 867-877, 2020 | 79 | 2020 |
| Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies E Perez-Palma, BI Bustos, CF Villaman, MA Alarcon, ME Avila, GD Ugarte, ... PloS one 9 (4), e95413, 2014 | 66 | 2014 |
| A novel functional low-density lipoprotein receptor-related protein 6 gene alternative splice variant is associated with Alzheimer's disease MA Alarcón, MA Medina, Q Hu, ME Avila, BI Bustos, E Pérez-Palma, ... Neurobiology of Aging 34 (6), 1709. e9-1709. e18, 2013 | 50 | 2013 |
| Variants in ABCG8 and TRAF3 genes confer risk for gallstone disease in admixed Latinos with Mapuche Native American ancestry BI Bustos, E Pérez-Palma, S Buch, L Azócar, E Riveras, GD Ugarte, ... Scientific reports 9 (1), 772, 2019 | 46 | 2019 |
| Homozygous might be hemizygous: CRISPR/Cas9 editing in iPSCs results in detrimental on-target defects that escape standard quality controls D Simkin, V Papakis, BI Bustos, CM Ambrosi, SJ Ryan, V Baru, ... Stem Cell Reports 17 (4), 993-1008, 2022 | 43 | 2022 |
| Assessing the relationship between monoallelic PRKN mutations and Parkinson’s risk SJ Lubbe, BI Bustos, J Hu, D Krainc, T Joseph, J Hehir, M Tan, W Zhang, ... Human molecular genetics 30 (1), 78-86, 2021 | 38 | 2021 |
| Dyshomeostatic modulation of Ca2+-activated K+ channels in a human neuronal model of KCNQ2 encephalopathy D Simkin, KA Marshall, CG Vanoye, RR Desai, BI Bustos, BN Piyevsky, ... Elife 10, e64434, 2021 | 29 | 2021 |
| Early transcriptional changes induced by Wnt/β-catenin signaling in hippocampal neurons E Pérez-Palma, V Andrade, MO Caracci, BI Bustos, C Villaman, ... Neural plasticity 2016, 2016 | 22 | 2016 |
| Whole genome sequence, variant discovery and annotation in Mapuche-Huilliche Native South Americans EA Vidal, TC Moyano, BI Bustos, E Pérez-Palma, C Moraga, E Riveras, ... Scientific Reports 9 (1), 2132, 2019 | 21 | 2019 |
| Genome-wide contribution of common short-tandem repeats to Parkinson’s disease genetic risk BI Bustos, K Billingsley, C Blauwendraat, JR Gibbs, Z Gan-Or, D Krainc, ... Brain 146 (1), 65-74, 2023 | 18 | 2023 |
| YY1-related dystonia: clinical aspects and long-term response to deep brain stimulation G Zorzi, IJK Sarmiento, FR Danti, BI Bustos, F Invernizzi, C Panteghini, ... Movement disorders: official journal of the Movement Disorder Society 36 (6 …, 2021 | 17 | 2021 |
| MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia L Meng, P Isohanni, Y Shao, BH Graham, SE Hickey, S Brooks, ... Annals of neurology 89 (4), 828-833, 2021 | 17 | 2021 |
| Melanin and Neuromelanin: Linking Skin Pigmentation and Parkinson's Disease T Krainc, MHG Monje, M Kinsinger, BI Bustos, SJ Lubbe Movement Disorders 38 (2), 185-195, 2023 | 8 | 2023 |
| Genomics England research consortium, loss-of-function variants in HOPS complex genes VPS16 and VPS41 cause early onset dystonia associated with lysosomal abnormalities D Steel, M Zech, C Zhao, KES Barwick, D Burke, D Demailly, KR Kumar, ... Ann. Neurol. 88, 867-877, 2020 | 7 | 2020 |
| Replication assessment of NUS1 variants in Parkinson's disease BI Bustos, S Bandres-Ciga, JR Gibbs, D Krainc, NE Mencacci, Z Gan-Or, ... Neurobiology of aging 101, 300. e1-300. e3, 2021 | 6 | 2021 |
| Copy number variants in lipid metabolism genes are associated with gallstones disease in men E Pérez-Palma, BI Bustos, D Lal, S Buch, L Azocar, MR Toliat, W Lieb, ... European Journal of Human Genetics 28 (2), 264-273, 2020 | 6 | 2020 |
| Variants in ATP5F1B are associated with dominantly inherited dystonia A Nasca, NE Mencacci, F Invernizzi, M Zech, IJ Keller Sarmiento, A Legati, ... Brain 146 (7), 2730-2738, 2023 | 3 | 2023 |
| The IPDGC/GP2 Hackathon-an open science event for training in data science, genomics, and collaboration using Parkinson’s disease data HL Leonard, R Murtadha, A Martinez-Carrasco, A Jama, ... npj Parkinson's Disease 9 (1), 33, 2023 | 3 | 2023 |
| Whole-exome analysis in parkinson’s disease reveals a high burden of ultra rare variants in early onset cases BI Bustos, D Krainc, SJ Lubbe, ... bioRxiv, 2020.06. 06.137299, 2020 | 3 | 2020 |
