• 16815 Citations

Research output per year

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Personal profile

Research interests

The cumulative impact of rare variants on common diseases is currently unknown, but recent studies have implicated rare genetic variants in many complex diseases. In the lab we are using the second-generation sequencing technology to identify rare variants implicated in Alzheimer’s and Parkinson’s disease. We are using both, targeted and whole-exome sequencing to identify novel pathogenic variants and sequences variants that influence age at onset and disease progression.


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Research Output

Amyloid and Tau Pathology Associations With Personality Traits, Neuropsychiatric Symptoms, and Cognitive Lifestyle in the Preclinical Phases of Sporadic and Autosomal Dominant Alzheimer's Disease

Dominantly Inherited Alzheimer Network (DIAN) & PREVENT-AD Research Group, 2020, (Accepted/In press) In : Biological Psychiatry.

Research output: Contribution to journalArticle

  • 1 Scopus citations

    APOE genotype regulates pathology and disease progression in synucleinopathy

    Davis, A. A., Inman, C. E., Wargel, Z. M., Dube, U., Freeberg, B. M., Galluppi, A., Haines, J. N., Dhavale, D. D., Miller, R., Choudhury, F. A., Sullivan, P. M., Cruchaga, C., Perlmutter, J. S., Ulrich, J. D., Benitez, B. A., Kotzbauer, P. T. & Holtzman, D. M., Feb 5 2020, In : Science translational medicine. 12, 529, eaay3069.

    Research output: Contribution to journalArticle

  • 9 Scopus citations

    A soluble phosphorylated tau signature links tau, amyloid and the evolution of stages of dominantly inherited Alzheimer’s disease

    the Dominantly Inherited Alzheimer Network, Mar 1 2020, In : Nature medicine. 26, 3, p. 398-407 10 p.

    Research output: Contribution to journalArticle

  • 18 Scopus citations

    Autosomal dominantly inherited alzheimer disease: Analysis of genetic subgroups by machine learning

    Castillo-Barnes, D., Su, L., Ramírez, J., Salas-Gonzalez, D., Martinez-Murcia, F. J., Illan, I. A., Segovia, F., Ortiz, A., Cruchaga, C., Farlow, M. R., Xiong, C., Graff-Radford, N. R., Schofield, P. R., Masters, C. L., Salloway, S., Jucker, M., Mori, H., Levin, J., Gorriz, J. M. & (DIAN), D. I. A. N., Jun 2020, In : Information Fusion. 58, p. 153-167 15 p.

    Research output: Contribution to journalArticle

  • 2 Scopus citations

    Awareness of genetic risk in the Dominantly Inherited Alzheimer Network (DIAN)

    Dominantly Inherited Alzheimer Network, Jan 1 2020, In : Alzheimer's and Dementia. 16, 1, p. 219-228 10 p.

    Research output: Contribution to journalArticle

    Open Access