Michael B. Miller

The paper investigates somatic copy number variants (CNVs) in human neurons across development, finding that perinatal elimination of neurons with aberrant genomes reduces CNV prevalence and targets dosage-sensitive genes.

The paper identifies pervasive somatic NF1 mutations in oligodendrocyte precursors in NF-1 patients, showing clonal selection and spatial bias, and links CDKN2A loss to tumor progression.

The paper compares somatic mutation rates and transcriptomic changes in neurons across six mammalian species, finding higher mutation accumulation and distinct age-related dysregulation in human neurons.

The paper identifies a shared TOP1-mediated mutagenic mechanism in ALS, FTD, and AD through single-cell genomic analysis and experimental validation.

This study identifies somatic Ras-MAPK pathway variants in hippocampal tissue from patients with drug-resistant epilepsy, showing their association with clonal competition and worse surgical outcomes.

The paper identifies somatic genomic alterations in neurons from CTE patients, finding patterns similar to Alzheimer's disease and suggesting mechanisms beyond repetitive head impacts.

The paper develops and validates CNS-tau-specific monoclonal antibodies for use in neuropathology and plasma biomarker assays across Alzheimer's disease and primary tauopathies.

The paper examines somatic mutations in neurons across tau pathologic states in Alzheimer's disease and finds increased mutation burden and specific mutational signatures in AD neurons.

This study examines how different anti-amyloid antibodies bind to various Aβ aggregates in human Alzheimer's brains and how this relates to ARIA-E risk.

This study investigates whether somatic mutations in PRNP contribute to sporadic Creutzfeldt-Jakob Disease (sCJD) by sequencing PRNP in 205 sCJD cases and 170 controls, finding no evidence of pathogenic somatic variants.

The paper uses spatial single-cell analysis to uncover molecular and structural development of human fetal cortex, revealing early layer and area specification.

The paper identifies somatic driver mutations in microglia of Alzheimer's disease brains, showing increased clonal expansion and inflammatory signatures.

The paper identifies rare somatic mutations in sporadic ALS and FTD cases, suggesting they contribute to disease and widespread neurodegeneration.

The paper compares somatic mutation rates in neurons and oligodendrocytes across aging human brains, finding faster mutation accumulation in oligodendrocytes and distinct genomic distribution patterns.

DeepMosaic detects mosaic single nucleotide variants without control samples using deep convolutional neural networks, achieving high accuracy and uncovering many variants missed by existing methods.

The paper evaluates brain somatic mosaicism in the adult human to identify rules governing cellular distribution during embryogenesis.

The paper introduces PTA for single-cell DNA sequencing and SCAN2 to detect somatic SNVs and indels in single neurons, finding age-related increases in both with indels having greater functional impact.

The paper reanalyzes data from a study claiming somatic APP gene copy number gains in AD neurons, finding evidence of contamination by recombinant vectors instead of true somatic retrotransposition.