Selected Publications

Neuropathologically-directed profiling of PRNP somatic and germline variants in sporadic human prion disease. 

McDonough GA, Cheng Y, Morillo K, Doan RN, Zhou Z, Kenny CJ, Foutz A, Kim C, Cohen ML, Appleby BS, Walsh CA, Safar JG, Huang AY, Miller MB. Acta Neuropathologica, 2024 148, 10. PMID: 39048735.


Contrasting somatic mutation patterns in aging human neurons and oligodendrocytes

Ganz J, Luquette LJ, Bizzotto S, Miller MB, Zhou Z, Bohrson CL, Jin H, Tran AV, Viswanadham VV, McDonough G, Brown K, Chahine Y, Chhouk B, Galor A, Park PJ, Walsh CA. Cell. 2024.


Case Study 6: The Diagnostic Challenge of a 75-Year-Old Man Who Had, Then Didn’t Have, Then Did Have Alzheimer’s Disease. 

Ramirez-Salazar SA, MacRae C, Feany MB, Miller M, Yang H-S, Meadows M-E, McGinnis SM, Silbersweig D, Gale SA, Daffner KR. J. Neuropsychiatry Clin. Neurosci. 2023 Fall: 35: 4. PMID 37840261.


Expanded vacuum-stable gels for multi-plexed high-resolution spatial histopathology. 

Bai Y, Zhu B, Oliveria J-P, Cannon BJ, Feyaerts D, Bosse M, Vijayaragavan K, Greenwald NF, Phillips D, Schurch CM, Naik SM, Ganio EA, Gaudilliere B, Rodig SJ, Miller MB, Angelo M, Bendall SC, Rovira-Clave X, Nolan GP, Jiang S. Nature Communications 2023 Jul 7;14(1):4013. doi: 10.1038/s41467-023-39616-w. PMID: 37419873.


Glial dysregulation in human brain in Fragile X-associated tremor/ataxia syndrome.

Dias CM, Issac B, Sun L, Lukowicz A, Talukdar M, Akula SK, Miller MB, Walsh K, Rockowitz S, Walsh CA. Proc. Natl. Acad. Sci. USA. 2023 Jun 6;120(23):e2300052120. PMID 37252957.


Case Study 5: A 74-Year-Old Man With Dysphagia, Weakness, and Memory Loss.

McGinnis SM, McCann RF, Patel V, Doughty CT, Miller MB, Gale SA, Silbersweig DA, Daffner KR. J. Neuropsychiatry Clin. Neurosci. 2023 Summer: 35: 3. PMID 37448308.


Case Study 4: A 68-Year-Old Woman With Progressive Cognitive Decline and Anxiety. 

Gupta R, Patel V, McGinnis SM, Silbersweig D, Miller MB, Feany MB, Daffner K, Gale SA. J. Neuropsychiatry Clin. Neurosci. 2023 Winter: 35: 1. PMID 36633473.


Case Study 3: A 58-Year-Old Woman Referred for Evaluation of Suspected Alzheimer Dementia

Maneval J, Woods JK, Feany MB, Miller MB, Silbersweig DA, Gale SA, Daffner KR, McGinnis SM. J Neuropsychiatry Clin Neurosci. 2022.


Prevalence and mechanisms of somatic deletions in single human neurons during normal aging and in DNA repair disorders

Kim J, Huang AY, Johnson SL, Lai J, Isacco L, Jeffries AM, Miller MB, Lodato MA, Walsh CA, Lee EA. Nature Communications. 2022.


Somatic mutations in single human cardiomyocytes reveal age-associated DNA damage and widespread oxidative genotoxicity

Choudhury S, Huang AY, Kim J, Zhou Z, Morillo K, Maury EA, Tsai JW, Miller MB, Lodato MA, Araten S, Hilal N, Lee EA, Chen MH, Walsh CA. Nature Aging. 2022.


Case Study 2: A 60-Year-Old Man With Progressive Defecits in Language Output

Thurin K, Patel V, Perez DL, Dickerson BC, Hochberg D, Quimby M, Miller MB, Feany M, Silbersweig D, McGinnis SM, Daffner KR, Gale SA. J Neuropsychiatry Clin Neurosci. 2022.


Single-cell genome sequencing of human neurons identifies somatic point mutations and indel enrichment in regulatory elements

Luquette LJ*, Miller MB*, Zhou Z*, Bohrson CL, Zhao Y, Jin H, Gulhan D, Ganz J, Bizzotto S, Kirkham SL, Hochepied T, Libert C, Galor A, Kim J, Lodato MA, Garaycoechea JI, Gawad C, West J, Walsh CA, Park PJ. Nature Genetics. 2022.


Somatic genomic changes in single Alzheimer's disease neurons

Miller MB*, Huang AY*, Kim J, Zhou Z, Kirkham SL, Maury EA, Ziegenfuss JS, Reed HC, Neil JE, Rento L, Ryu SC, Ma CC, Luquette LJ, Ames HM, Oakley DH, Frosch MP, Hyman BT, Lodato MA, Lee EA, Walsh CA. Nature. 2022.


A calcium-sensitive antibody isolates soluble amyloid-β aggregates and fibrils from Alzheimer's disease brain 

Stern AM, Liu L, Jin S, Liu W, Meunier AL, Ericsson M, Miller MB, Batson M, Sun T, Kathuria S, Reczek D, Pradier L, Selkoe DJ. Brain. 2022.


Case Study 1: A 55-Year-Old Woman With Progressive Cognitive, Perceptual, and Motor Impairments

McGinnis SM, Stern AM, Woods JK, Torre M, Feany MB, Miller MB, Silbersweig DA, Gale SA, Daffner KR. J Neuropsychiatry Clin Neurosci. 2022.


Brain Somatic Mutation in Aging and Alzheimer's Disease

Miller MB, Reed HC, Walsh CA. Annu Rev Genomics Hum Genet. 2021.


MIPP-Seq: ultra-sensitive rapid detection and validation of low-frequency mosaic mutations

Doan RN, Miller MB, Kim SN, Rodin RE, Ganz J, Bizzotto S, Morillo KS, Huang AY, Digumarthy R, Zemmel Z, Walsh CA. BMC Med Genomics. 2021.


Primary intra-abdominal melanoma arising in association with extracutaneous blue naevus: a report of two cases

Shah K, Folpe AL, Miller M, Morgan JA, Raut CP, Doyle LA. Histopathology. 2021.


APP gene copy number changes reflect exogenous contamination

Kim J, Zhao B, Huang AY, Miller MB, Lodato MA, Walsh CA, Lee EA. Nature. 2020.


Clinical Importance of CDKN2A Loss and Monosomy 10 in Pilocytic Astrocytoma

Cagney DN, Miller MB, Dubuc A, Delalle I, Ligon AH, Chukwueke U, Al-Mefty O, Aizer A, Ligon K, Wen P. Cureus. 2019.


Spindle cell oncocytoma of the pituitary gland

Giantini Larsen AM, Cote DJ, Zaidi HA, Bi WL, Schmitt PJ, Iorgulescu JB, Miller MB, Smith TR, Lopes MB, Jane JA, Laws ER. J Neurosurg. 2018.


Spinal Cord as a Complication of "Stem-Cell Tourism"

Berkowitz AL*, Miller MB*, Mir SA, Cagney D, Chavakula V, Guleria I, Aizer A, Ligon KL, Chi JH. Glioproliferative Lesion of the N Engl J Med. 2016.


MAPK activation and HRAS mutation identified in pituitary spindle cell oncocytoma

Miller MB*, Bi WL*, Ramkissoon LA, Kang YJ, Abedalthagafi M, Knoff DS, Agarwalla PK, Wen PY, Reardon DA, Alexander BM, Laws ER Jr, Dunn IF, Beroukhim R, Ligon KL, Ramkissoon SH. Oncotarget. 2016.


Status epilepticus caused by cerebral amyloid angiopathy-related inflammation

Tolchin B, Fantaneanu T, Miller M, Helgager J, Lee JW. Epilepsy Behav Case Rep. 2016.


An Avid Imitator

Farmakiotis D, Liakos A, Miller MB, Krane JF, Baden LR, Hammond SP. J Clin Med Res. 2016.


Multicentric Low-Grade Gliomas

Sridharan V, Urbanski LM, Bi WL, Thistle K, Miller MB, Ramkissoon S, Reardon DA, Dunn IF. World Neurosurg. 2015.


A Structural and Functional Comparison Between Infectious and Non-Infectious Autocatalytic Recombinant PrP Conformers

Noble GP, Wang DW, Walsh DJ, Barone JR, Miller MB, Nishina KA, Li S, Supattapone S. PLoS Pathog. 2015.


Regulatory T cells are not a strong predictor of survival for patients with glioblastoma

Thomas AA, Fisher JL, Rahme GJ, Hampton TH, Baron U, Olek S, Schwachula T, Rhodes CH, Gui J, Tafe LJ, Tsongalis GJ, Lefferts JA, Wishart H, Kleen J, Miller M, Whipple CA, de Abreu FB, Ernstoff MS, Fadul CE. Neuro Oncol. 2015.


Requirements for mutant and wild-type prion protein misfolding in vitro

Noble GP, Walsh DJ, Miller MB, Jackson WS, Supattapone S. Biochemistry. 2015.


Cofactor molecules induce structural transformation during infectious prion formation

Miller MB, Wang DW, Wang F, Noble GP, Ma J, Woods VL Jr, Li S, Supattapone S. Structure. 2013.


The secretory pathway calcium ATPase PMR-1/SPCA1 has essential roles in cell migration during Caenorhabditis elegans embryonic development

Praitis V, Simske J, Kniss S, Mandt R, Imlay L, Feddersen C, Miller MB, Mushi J, Liszewski W, Weinstein R, Chakravorty A, Ha DG, Schacht Farrell A, Sullivan-Wilson A, Stock T. PLoS Genet. 2013.


Cofactor Involvement in Prion Propagation

Supattapone S, Miller M. In: Zou WQ, Gambetti P, editors. Prions and Diseases: Physiology and Pathophysiology New York: Springer; 2013. Chapter 7; p.93-105.


The N-terminal, polybasic region of PrP(C) dictates the efficiency of prion propagation by binding to PrP(Sc)

Turnbaugh JA, Unterberger U, Saá P, Massignan T, Fluharty BR, Bowman FP, Miller MB, Supattapone S, Biasini E, Harris DA. J Neurosci. 2012.


Dissociation of infectivity from seeding ability in prions with alternate docking mechanism

Miller MB, Geoghegan JC, Supattapone S. PLoS Pathog. 2011.


Superparamagnetic nanoparticle capture of prions for amplification

Miller MB, Supattapone S. J Virol. 2011 Mar;85(6):2813-7. doi: 10.1128/JVI.02451-10. Epub 2011.


Trans-dominant inhibition of prion propagation in vitro is not mediated by an accessory cofactor

Geoghegan JC, Miller MB, Kwak AH, Harris BT, Supattapone S. PLoS Pathog. 2009.