Publications

16
Results
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Brain. 2023 Feb. 17.
Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.
Nature Neuroscience. 2022 Dec. 8.
Integrative transcriptomic analysis of the amyotrophic lateral sclerosis spinal cord implicates glial activation and suggests new risk genes.
PNAS Nexus. 2022 June 24.
Retromer dysfunction in amyotrophic lateral sclerosis.
Nature Neuroscience. 2022 March 31.
Whole-genome sequencing reveals that variants in the Interleukin 18 Receptor Accessory Protein 3′UTR protect against ALS.
Nature. 2022 Feb. 23.
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A.
Genes. 2021 Oct. 30.
Molecular Classification and Interpretation of Amyotrophic Lateral Sclerosis Using Deep Convolution Neural Networks and Shapley Values.
Neuron. 2020 Nov. 26.
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
The Journal of Clinical Investigation. 2020 August 13.
Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia.
Cells. 2020 June 5.
Cell Type-Specific In Vitro Gene Expression Profiling of Stem Cell-Derived Neural Models.
Science Translational Medicine. 2019 Dec. 18.
Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiology.
Nature Neuroscience. 2019 Nov. 25.
Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein.
Cell Reports. 2019 Oct. 29.
Postmortem Cortex Samples Identify Distinct Molecular Subtypes of ALS: Retrotransposon Activation, Oxidative Stress, and Activated Glia
Genome Res. 2019 Apr 2.
A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS.
Science. 2019 Apr 4.
Spatiotemporal Dynamics of Molecular Pathology in Amyotrophic Lateral Sclerosis.
Elife. 2018. Jul 13.
Unexpected similarities between C9ORF72 and sporadic forms of ALS/FTD suggest a common disease mechanism.
Neuron. 2018 Mar. 21.