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  1. Article

    Open Access

    Region-based analysis of rare genomic variants in whole-genome sequencing datasets reveal two novel Alzheimer’s disease-associated genes: DTNB and DLG2

    Alzheimer’s disease (AD) is a genetically complex disease for which nearly 40 loci have now been identified via genome-wide association studies (GWAS). We attempted to identify groups of rare variants (alterna...

    Dmitry Prokopenko, Sanghun Lee, Julian Hecker, Kristina Mullin… in Molecular Psychiatry (2022)

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  2. Article

    Author Correction: Tau molecular diversity contributes to clinical heterogeneity in Alzheimer’s disease

    A Correction to this paper has been published: https://doi.org/10.1038/s41591-021-01251-7.

    Simon Dujardin, Caitlin Commins, Aurelien Lathuiliere, Pieter Beerepoot… in Nature Medicine (2021)

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  3. No Access

    Article

    Tau molecular diversity contributes to clinical heterogeneity in Alzheimer’s disease

    Alzheimer’s disease (AD) causes unrelenting, progressive cognitive impairments, but its course is heterogeneous, with a broad range of rates of cognitive decline1. The spread of tau aggregates (neurofibrillary ta...

    Simon Dujardin, Caitlin Commins, Aurelien Lathuiliere, Pieter Beerepoot… in Nature Medicine (2020)

  4. Article

    Open Access

    Identification of Novel Alzheimer’s Disease Loci Using Sex-Specific Family-Based Association Analysis of Whole-Genome Sequence Data

    With the advent of whole genome-sequencing (WGS) studies, family-based designs enable sex-specific analysis approaches that can be applied to only affected individuals; tests using family-based designs are att...

    Dmitry Prokopenko, Julian Hecker, Rory Kirchner, Brad A. Chapman… in Scientific Reports (2020)

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  5. Article

    Open Access

    Adjusting heterogeneous ascertainment bias for genetic association analysis with extended families

    In family-based association analysis, each family is typically ascertained from a single proband, which renders the effects of ascertainment bias heterogeneous among family members. This is contrary to case–co...

    Suyeon Park, Sungyoung Lee, Young Lee, Christine Herold… in BMC Medical Genetics (2015)

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  6. No Access

    Article

    PLD3 gene variants and Alzheimer's disease

    Basavaraj V. Hooli, Christina M. Lill, Kristina Mullin, Dandi Qiao… in Nature (2015)

  7. No Access

    Article

    Assessment of Alzheimer’s disease case–control associations using family-based methods

    The genetics of Alzheimer’s disease (AD) is heterogeneous and remains only ill-defined. We have recently created a freely available and continuously updated online database (AlzGene; http://www...

    Brit-Maren M. Schjeide, Matthew B. McQueen, Kristina Mullin, Jason DiVito… in neurogenetics (2009)

  8. No Access

    Article

    Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database

    The past decade has witnessed hundreds of reports declaring or refuting genetic association with putative Alzheimer disease susceptibility genes. This wealth of information has become increasingly difficult to...

    Lars Bertram, Matthew B McQueen, Kristina Mullin, Deborah Blacker… in Nature Genetics (2007)