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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
在 northwestern.edu 的电子邮件经过验证 - 首页
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引用次数
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年份
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
1122014
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
812020
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
672014
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
502013
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
462019
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
452022
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
412021
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
292021
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 (1), 4672841, 2016
232016
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
222019
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
212023
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
182021
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
172021
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
122023
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 (5), 867-877, 2020
82020
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
62021
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
62020
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
42023
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
42023
Gallbladder cancer risk and indigenous South American Mapuche ancestry: instrumental variable analysis using ancestry-informative markers
L Zollner, F Boekstegers, C Barahona Ponce, D Scherer, K Marcelain, ...
Cancers 15 (16), 4033, 2023
32023
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