A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers
Farias, Fabiana H.G, Zeng, Rong, Johnson, Gary S, Wininger, Fred A, Taylor, Jeremy F, Schnabel, Robert D, McKay, Stephanie D, Sanders, Douglas N, Lohi, Hannes, Seppälä, Eija H, Wade, Claire M, Lindblad-Toh, Kerstin, O'Brien, Dennis P, Katz, Martin L
Published in Neurobiology of disease (01.06.2011)
Published in Neurobiology of disease (01.06.2011)
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Journal Article
Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing
Sandling, Johanna K, Pucholt, Pascal, Hultin Rosenberg, Lina, Farias, Fabiana H G, Kozyrev, Sergey V, Eloranta, Maija-Leena, Alexsson, Andrei, Bianchi, Matteo, Padyukov, Leonid, Bengtsson, Christine, Jonsson, Roland, Omdal, Roald, Lie, Benedicte A, Massarenti, Laura, Steffensen, Rudi, Jakobsen, Marianne A, Lillevang, Søren T, Lerang, Karoline, Molberg, Øyvind, Voss, Anne, Troldborg, Anne, Jacobsen, Søren, Syvänen, Ann-Christine, Jönsen, Andreas, Gunnarsson, Iva, Svenungsson, Elisabet, Rantapää-Dahlqvist, Solbritt, Bengtsson, Anders A, Sjöwall, Christopher, Leonard, Dag, Lindblad-Toh, Kerstin, Rönnblom, Lars
Published in Annals of the rheumatic diseases (01.01.2021)
Published in Annals of the rheumatic diseases (01.01.2021)
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Journal Article
Overlap in the Genetic Architecture of Stroke Risk, Early Neurological Changes, and Cardiovascular Risk Factors
Ibanez, Laura, Heitsch, Laura, Dube, Umber, Farias, Fabiana H.G, Budde, John, Bergmann, Kristy, Davenport, Rich, Bradley, Joseph, Carrera, Caty, Kinnunen, Janne, Sallinen, Hanne, Strbian, Daniel, Slowik, Agnieszka, Fernandez-Cadenas, Israel, Montaner, Joan, Lee, Jin-Moo, Cruchaga, Carlos
Published in Stroke (1970) (01.06.2019)
Published in Stroke (1970) (01.06.2019)
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Journal Article
Genome-wide analysis in German shepherd dogs reveals association of a locus on CFA 27 with atopic dermatitis
Tengvall, Katarina, Kierczak, Marcin, Bergvall, Kerstin, Olsson, Mia, Frankowiack, Marcel, Farias, Fabiana H G, Pielberg, Gerli, Carlborg, Örjan, Leeb, Tosso, Andersson, Göran, Hammarström, Lennart, Hedhammar, Åke, Lindblad-Toh, Kerstin
Published in PLoS genetics (01.05.2013)
Published in PLoS genetics (01.05.2013)
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Journal Article
Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders
Yang, Chengran, Farias, Fabiana H. G., Ibanez, Laura, Suhy, Adam, Sadler, Brooke, Fernandez, Maria Victoria, Wang, Fengxian, Bradley, Joseph L., Eiffert, Brett, Bahena, Jorge A., Budde, John P., Li, Zeran, Dube, Umber, Sung, Yun Ju, Mihindukulasuriya, Kathie A., Morris, John C., Fagan, Anne M., Perrin, Richard J., Benitez, Bruno A., Rhinn, Herve, Harari, Oscar, Cruchaga, Carlos
Published in Nature neuroscience (01.09.2021)
Published in Nature neuroscience (01.09.2021)
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Journal Article
Chi3l1 /YKL-40 is controlled by the astrocyte circadian clock and regulates neuroinflammation and Alzheimer's disease pathogenesis
Lananna, Brian V, McKee, Celia A, King, Melvin W, Del-Aguila, Jorge L, Dimitry, Julie M, Farias, Fabiana H G, Nadarajah, Collin J, Xiong, David D, Guo, Chun, Cammack, Alexander J, Elias, Jack A, Zhang, Jinsong, Cruchaga, Carlos, Musiek, Erik S
Published in Science translational medicine (16.12.2020)
Published in Science translational medicine (16.12.2020)
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Journal Article
Using amyloid PET as a biomarker to detect progression of early Alzheimer’s disease
Ali, Muhammad, Farias, Fabiana H.G., Sung, Yun Ju, Wang, Fengxian, Cruchaga, Carlos
Published in Alzheimer's & dementia (01.12.2021)
Published in Alzheimer's & dementia (01.12.2021)
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Journal Article
A new domestic cat genome assembly based on long sequence reads empowers feline genomic medicine and identifies a novel gene for dwarfism
Buckley, Reuben M, Davis, Brian W, Brashear, Wesley A, Farias, Fabiana H G, Kuroki, Kei, Graves, Tina, Hillier, LaDeana W, Kremitzki, Milinn, Li, Gang, Middleton, Rondo P, Minx, Patrick, Tomlinson, Chad, Lyons, Leslie A, Murphy, William J, Warren, Wesley C
Published in PLoS genetics (22.10.2020)
Published in PLoS genetics (22.10.2020)
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Journal Article
Proteogenomic analysis of cerebrospinal fluid reveals causal role of proteins from the autophagy‐lysosome pathway in Parkinson’s disease
Yang, Chengran, Farias, Fabiana H.G., Harari, Oscar, Rhinn, Herve, Cruchaga, Carlos, Benitez, Bruno A.
Published in Alzheimer's & dementia (01.12.2020)
Published in Alzheimer's & dementia (01.12.2020)
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Journal Article
Proteogenomic analysis of cerebrospinal fluid reveals causal role of proteins from the autophagy‐lysosome pathway in Parkinson’s disease: Genetics: Genetics of cognitive aging, other dementia, and endophenotypes
Yang, Chengran, Farias, Fabiana H.G., Harari, Oscar, Rhinn, Herve, Cruchaga, Carlos, Benitez, Bruno A.
Published in Alzheimer's & dementia (01.12.2020)
Published in Alzheimer's & dementia (01.12.2020)
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Journal Article
The TMEM106B FTLD-protective variant, rs1990621, is also associated with increased neuronal proportion
Li, Zeran, Farias, Fabiana H. G., Dube, Umber, Del-Aguila, Jorge L., Mihindukulasuriya, Kathie A., Fernandez, Maria Victoria, Ibanez, Laura, Budde, John P., Wang, Fengxian, Lake, Allison M., Deming, Yuetiva, Perez, James, Yang, Chengran, Bahena, Jorge A., Qin, Wei, Bradley, Joseph L., Davenport, Richard, Bergmann, Kristy, Morris, John C., Perrin, Richard J., Benitez, Bruno A., Dougherty, Joseph D., Harari, Oscar, Cruchaga, Carlos
Published in Acta neuropathologica (01.01.2020)
Published in Acta neuropathologica (01.01.2020)
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Journal Article
A comprehensive analysis of dementia cerebrospinal fluid biomarkers using GWAs, polygenic risk scores and Mendelian randomization in Parkinson’s disease
Ibanez, Laura, Bahena, Jorge Alberto, Dube, Umber, Farias, Fabiana H.G., Yang, Chengran, Harari, Oscar, Cruchaga, Carlos, Benitez, Bruno A.
Published in Alzheimer's & dementia (01.12.2020)
Published in Alzheimer's & dementia (01.12.2020)
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Journal Article
A Mendelian randomization approach to characterize overlap in the pathophysiology of neurological disorders: Genetics/omics and systems biology
Bahena, Jorge Alberto, Eiffert, Brett, Farias, Fabiana H.G., Ibanez, Laura, Mihindukulasuriya, Kathie A., Budde, John P., Cruchaga, Carlos, Harari, Oscar
Published in Alzheimer's & dementia (01.12.2020)
Published in Alzheimer's & dementia (01.12.2020)
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Journal Article
A comprehensive analysis of dementia cerebrospinal fluid biomarkers using GWAs, polygenic risk scores and Mendelian randomization in Parkinson’s disease: Genetics/atypical and other dementias
Ibanez, Laura, Bahena, Jorge Alberto, Dube, Umber, Farias, Fabiana H.G., Yang, Chengran, Harari, Oscar, Cruchaga, Carlos, Benitez, Bruno A.
Published in Alzheimer's & dementia (01.12.2020)
Published in Alzheimer's & dementia (01.12.2020)
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Journal Article
A Mendelian randomization approach to characterize overlap in the pathophysiology of neurological disorders
Bahena, Jorge Alberto, Eiffert, Brett, Farias, Fabiana H.G., Ibanez, Laura, Mihindukulasuriya, Kathie A., Budde, John P., Cruchaga, Carlos, Harari, Oscar
Published in Alzheimer's & dementia (01.12.2020)
Published in Alzheimer's & dementia (01.12.2020)
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Journal Article
Identification of genetic regulators of human metabolites in CSF
Wang, Ciyang, Mafimoghaddam, Samira, Novotny, Brenna C, Sung, Yun Ju, Farias, Fabiana H.G., Yang, Chengran, Wang, Fengxian, Marquié, Marta, Boada, Mercè, de Rojas, Itziar, Alvarez, Ignacio, Aguilar, Miquel, Fernandez, Victoria, Harari, Oscar, Cruchaga, Carlos
Published in Alzheimer's & dementia (01.06.2023)
Published in Alzheimer's & dementia (01.06.2023)
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Journal Article
REPLICATION OF RARE VARIANTS IN PLCG2, ABI3 AND TREM2 FOR ALZHEIMER DISEASE IN A EUROPEAN AMERICAN COHORT
Olive, Claudia, Fernandez, Victoria, Wang, Fengxian, Ibanez, Laura, Farias, Fabiana H.G., Budde, John P., Cruchaga, Carlos
Published in Alzheimer's & dementia (01.07.2019)
Published in Alzheimer's & dementia (01.07.2019)
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Journal Article
P1‐136: REPLICATION OF RARE VARIANTS IN PLCG2, ABI3 AND TREM2 FOR ALZHEIMER DISEASE IN A EUROPEAN AMERICAN COHORT
Olive, Claudia, Fernandez, Victoria, Wang, Fengxian, Ibanez, Laura, Farias, Fabiana H.G., Budde, John P., Cruchaga, Carlos
Published in Alzheimer's & dementia (01.07.2019)
Published in Alzheimer's & dementia (01.07.2019)
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Journal Article
P1‐130: HIGH‐THROUGHPUT OMICS EXPLORER FOR ALZHEIMER'S DISEASE AND COMPLEX TRAITS GENETIC ANALYSIS
Bahena, Jorge Alberto, Farias, Fabiana H.G., Mihindukulasuriya, Kathie A., Budde, John P., Cruchaga, Carlos, Harari, Oscar
Published in Alzheimer's & dementia (01.07.2019)
Published in Alzheimer's & dementia (01.07.2019)
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Journal Article