41 Results (Filters Applied)
- Neurodegenerative Disease x
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.
Biomolecules. 2023 Jan. 9.
Genetic Predisposition to Neurological Complications in Patients with COVID-19.
American Journal of Medical Genetics. 2022 Dec. 23.
Detection of mosaic variants using genome sequencing in a large pediatric cohort.
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.
Cell Genomics. 2022 March 9.
Single nucleus multi-omics identifies human cortical cell regulatory genome diversity.
Nature. 2022 Feb. 23.
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A.
Nature Communications. 2022 Feb. 11.
Three-dimensional spatial transcriptomics uncovers cell type localizations in the human rheumatoid arthritis synovium.
Fertility and Sterility. 2021 Nov.
Embryonic lethal genetic variants and chromosomally normal pregnancy loss.
Genes. 2021 Oct. 30.
Molecular Classification and Interpretation of Amyotrophic Lateral Sclerosis Using Deep Convolution Neural Networks and Shapley Values.
Seminars in Cancer Biology. 2021 June 25.
Clinical utility of whole-genome sequencing in precision oncology.
Proc Natl Acad Sci USA. 2021 June 15.
ALS- and FTD-associated missense mutations in TBK1 differentially disrupt mitophagy.
Genetics in Medicine 2021 June 10.