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Bernabé I. Bustos
Bernabé I. Bustos
Postdoctoral Research Fellow, Northwestern University Feinberg School of Medicine, Neurology Department and Center for Genetic Medicine
Verified email at northwestern.edu - Homepage
Title
Cited by
Cited by
Year
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
902014
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
612014
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
482020
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
422013
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
322019
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
202021
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
202016
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
162019
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
152021
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
102021
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
92021
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
72022
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
52021
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
42020
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
22023
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
22020
Melanin and Neuromelanin: Linking Skin Pigmentation and Parkinson's Disease
T Krainc, MHG Monje, M Kinsinger, BI Bustos, SJ Lubbe
Movement Disorders, 2022
12022
Defining candidate Parkinson’s disease genes through the analysis of genome-wide homozygosity
SJ Lubbe, YC Wong, B Bustos, S Kim, J Vandrovcova, BP Norman, M Tan, ...
medRxiv, 2020.11. 23.20235671, 2020
12020
Gene-based burden analysis of damaging private variants in PRKN, PARK7 and PINK1 in Parkinson's disease cohorts of European descent
J Hu, CH Waters, D Spiegelman, EA Fon, E Yu, F Asayesh, L Krohn, ...
Neurobiology of Aging 119, 136-138, 2022
2022
DNA methylation differs between idiopathic Parkinson Disease and Healthy Control subjects in the Parkinson's Progression Marker Initiative (PPMI) cohort
P Gonzalez-Latapi, B Bustos, T Simuni, S Lubbe, D Krainc
MOVEMENT DISORDERS 37, S565-S566, 2022
2022
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