Publications

34
Results
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Neuron. 2023 Dec 6.
A reproducible signature of cytoskeletal and ALS-related genes in human motoneurons.
Nature Aging. 2023 July 3.
Spatial mapping of cellular senescence: emerging challenges and opportunities.
Genetics in Medicine. 2023 May 5.
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
Brain. 2023 Feb. 17.
Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.
Biophysical Journal. 2023 Feb. 10.
Behind sporadic ALS: A biophysical characterization of motor neurons in health and disease.
Neuron. 2023 Feb. 1.
A cellular taxonomy of the adult human spinal cord.
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.
Scientific Reports. 2022 March 24.
An open source toolkit for repurposing Illumina sequencing systems as versatile fluidics and imaging platforms.
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.
Trends in Neurosciences. 2021 May 15.
Non-cell-autonomous pathogenic mechanisms in amyotrophic lateral sclerosis.
Current Opinion in Genetics & Development. 2021 Jan. 9.
Spatially resolved transcriptomics and its applications in cancer.
Neuron. 2020 Nov. 26.
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
Current Genetic Medicine Reports. 2020 Nov. 7.
Genetics of Amyotrophic Lateral Sclerosis.
Cell. 2020 Oct. 24.
Identification of required host factors for SARS-CoV-2 infection in human cells.
The Journal of Clinical Investigation. 2020 August 13.