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Sonia M. Vallabh · SciRah

Researcher profile · Semantic Scholar

Sonia M. Vallabh

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Sonia M. Vallabh — researcher profile on SciRah

h-index: 19
Works: 54
Citations: 1,567

Most-cited papers

Quantifying penetrance in a dominant disease gene using large population control cohorts
E. Minikel, Sonia M. Vallabh, Monkol Lek, K. Estrada +59 more
2016Science Translational Medicine406 citations Open access
Semantic Scholar
Antisense oligonucleotides extend survival of prion-infected mice
G. J. Raymond, Hien T. Zhao, Brent Race, L. Raymond +18 more
2019JCI Insight146 citations Open access
Semantic Scholar
Prion protein lowering is a disease-modifying therapy across prion disease stages, strains and endpoints
E. Minikel, Hien T. Zhao, Jason Lê, Jill O'Moore +20 more
2020bioRxiv131 citations Open access
Semantic Scholar
Brain-wide silencing of prion protein by AAV-mediated delivery of an engineered compact epigenetic editor
Edwin N. Neumann, Tessa M. Bertozzi, Elaine Wu, Fiona E. Serack +14 more
2024Science110 citations Open access
Semantic Scholar
Towards a treatment for genetic prion disease: trials and biomarkers.
Sonia M. Vallabh, E. Minikel, S. Schreiber, E. Lander
2020Lancet Neurology73 citations
Semantic Scholar
In vivo base editing extends lifespan of a humanized mouse model of prion disease
Mei-Rui An, Jessie R. Davis, Jonathan M. Levy, Fiona E. Serack +23 more
2025Nature Medicine54 citations Open access
Semantic Scholar
Cerebrospinal fluid and plasma biomarkers in individuals at risk for genetic prion disease
Sonia M. Vallabh, E. Minikel, V. Williams, B. Carlyle +14 more
2019BMC Medicine54 citations Open access
Semantic Scholar
Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulation.
M. Biagioli, F. Ferrari, E. Mendenhall, Yi-Jing Zhang +13 more
2015Human Molecular Genetics53 citations Open access
Semantic Scholar
Age at onset in genetic prion disease and the design of preventive clinical trials.
E. Minikel, Sonia M. Vallabh, Margaret C. Orseth, J. Brandel +28 more
2019Neurology49 citations Open access
Semantic Scholar
Age of onset in genetic prion disease and the design of preventive clinical trials
E. Minikel, Sonia M. Vallabh, Margaret C. Orseth, J. Brandel +28 more
2018bioRxiv48 citations Open access
Semantic Scholar
Prion protein quantification in human cerebrospinal fluid as a tool for prion disease drug development
Sonia M. Vallabh, C. Nobuhara, F. Llorens, I. Zerr +12 more
2019Proceedings of the National Academy of Sciences of the United States of America47 citations Open access
Semantic Scholar
Characterization of the Prion Protein Binding Properties of Antisense Oligonucleotides
A. Reidenbach, E. Minikel, Hien T. Zhao, Stacy Guzman +5 more
2019bioRxiv45 citations Open access
Semantic Scholar
A single-cell map of antisense oligonucleotide activity in the brain
M. Mortberg, Juliana E. Gentile, Naeem M. Nadaf, Charles R. Vanderburg +10 more
2023Nucleic Acids Research34 citations Open access
Semantic Scholar
Genetic counseling for prion disease: Updates and best practices.
J. Goldman, Sonia M. Vallabh
2022Genetics in Medicine34 citations Open access
Semantic Scholar
Disease stages and therapeutic hypotheses in two decades of neurodegenerative disease clinical trials
M. Mortberg, Sonia M. Vallabh, E. Minikel
2022Scientific Reports33 citations Open access
Semantic Scholar
Regional variability and genotypic and pharmacodynamic effects on PrP concentration in the CNS
M. Mortberg, Hien T. Zhao, A. Reidenbach, Juliana E. Gentile +16 more
2022JCI Insight29 citations Open access
Semantic Scholar
Domain-specific Quantification of Prion Protein in Cerebrospinal Fluid by Targeted Mass Spectrometry*
E. Minikel, Eric Kuhn, A. R. Cocco, Sonia M. Vallabh +12 more
2019Molecular & Cellular Proteomics26 citations Open access
Semantic Scholar
Multimodal small-molecule screening for human prion protein binders
A. Reidenbach, M. Mesleh, Dominick E. Casalena, Sonia M. Vallabh +22 more
2020Journal of Biological Chemistry25 citations Open access
Semantic Scholar
Therapeutic Trial of anle138b in Mouse Models of Genetic Prion Disease
Sonia M. Vallabh, Dan Zou, Rose Pitstick, Jill O'Moore +7 more
2022bioRxiv21 citations Open access
Semantic Scholar
Zinc Finger Repressors mediate widespread PRNP lowering in the nonhuman primate brain and profoundly extend survival in prion disease mice
Shih-Wei Chou, M. Mortberg, Kimberly Marlen, David S Ojala +37 more
2025bioRxiv19 citations Open access
Semantic Scholar
A single-cell map of antisense oligonucleotide activity in the brain
M. Mortberg, Juliana E. Gentile, Naeem M. Nadaf, Charles R. Vanderburg +10 more
2023bioRxiv18 citations Open access
Semantic Scholar
Divalent siRNA for prion disease
Juliana E. Gentile, Taylor L. Corridon, Fiona E. Serack, Dimas Echeverria +24 more
2026bioRxiv17 citations Open access
Semantic Scholar
Fluid Biomarkers in Individuals at Risk for Genetic Prion Disease up to Disease Conversion
Sonia M. Vallabh, M. Mortberg, Shona Allen, Ashley C Kupferschmid +13 more
2024Neurology15 citations Open access
Semantic Scholar
Divalent siRNA for prion disease
Juliana E. Gentile, Taylor L. Corridon, Fiona E. Serack, Dimas Echeverria +24 more
2026Nucleic Acids Research12 citations Open access
Semantic Scholar
Evidence that minocycline treatment confounds the interpretation of neurofilament as a biomarker
Juliana E. Gentile, Christina N Heiss, Taylor L. Corridon, M. Mortberg +19 more
2025Brain Communications12 citations Open access
Semantic Scholar
PrP turnover in vivo and the time to effect of prion disease therapeutics
Taylor L. Corridon, Jill O'Moore, Alyssa L. Seerley, Daniel A. Sprague +19 more
2024bioRxiv9 citations Open access
Semantic Scholar
Analysis of non-human primate models for evaluating prion disease therapeutic efficacy
M. Mortberg, E. Minikel, Sonia M. Vallabh
2022bioRxiv8 citations Open access
Semantic Scholar
Novel quaternary structures of the human prion protein globular domain
L. O. Bortot, V. Rangel, F. Pavlovici, K. el Omari +9 more
2020bioRxiv5 citations Open access
Semantic Scholar
Prion protein lowering is a disease-modifying therapy across prion strains, disease stages, and endpoints
E. Minikel, Hien T. Zhao, Jason Lê, Jill O'Moore +19 more
20205 citations
Semantic Scholar
Prion protein quantification in cerebrospinal fluid as a tool for prion disease drug development
Sonia M. Vallabh, C. Nobuhara, F. Llorens, I. Zerr +12 more
2018bioRxiv5 citations Open access
Semantic Scholar
Cell Type Distribution of Intrathecal Antisense Oligonucleotide Activity in Deep Brain Regions of Non-Human Primates
Jeannine A. Frei, Juliana E. Gentile, Yuan Lian, M. Mortberg +5 more
2025bioRxiv4 citations Open access
Semantic Scholar
Where have prions been all our lives?
Eric Vallabh Minikel, Sonia M. Vallabh
2023Brain : a journal of neurology4 citations Open access
Semantic Scholar
Modulation of prion protein expression through cryptic splice site manipulation
Juliana E. Gentile, Taylor L. Corridon, M. Mortberg, Elston N. D'souza +3 more
2023bioRxiv4 citations Open access
Semantic Scholar
Mortality of individuals with antemortem genetic testing for PRNP variants in the United States, 1998–2024
Yuan Lian, Keisi Kotobelli, Kathleen Glisic, Daniel A. Sprague +3 more
2025medRxiv3 citations Open access
Semantic Scholar
Search for a genetic cause of variably protease-sensitive prionopathy
Yuan Lian, Keisi Kotobelli, Stacey Hall, M. Talkowski +4 more
2025PLoS Pathogens3 citations Open access
Semantic Scholar
Implications of new genetic risk factors in prion disease
Sonia M. Vallabh, E. Minikel
2020Nature Reviews Neurology2 citations
Semantic Scholar
Phenotypic screening for small molecules that lower PrP in cultured cells
Jeannine A. Frei, A. Reidenbach, Leo M. H. Xu, R. Gopalakrishnan +12 more
2026bioRxiv1 citations Open access
Semantic Scholar
Author Correction: In vivo base editing extends lifespan of a humanized mouse model of prion disease
Mei-Rui An, Jessie R. Davis, Jonathan M. Levy, Fiona E. Serack +23 more
2025Nature Medicine1 citations Open access
Semantic Scholar
Biomarker changes preceding symptom onset in genetic prion disease
Sonia M. Vallabh, M. Mortberg, Shona Allen, Ashley C Kupferschmid +13 more
2023medRxiv1 citations Open access
Semantic Scholar
Regional variability, genotypic effects, and pharmacodynamic impact on prion protein concentration in the central nervous system
Meredith A. Mortberg, Hien T. Zhao, Andrew G. Reidenbach, Juliana E. Gentile +15 more
2021medRxiv1 citations Open access
Semantic Scholar
The Patient-Scientist's Mandate.
Sonia M. Vallabh
2020New England Journal of Medicine1 citations
Semantic Scholar
Antisense Oligonucleotides that Are Toxic to Prion-Infected Mice Share an Emergent Mechanism.
Hien T. Zhao, Jill O'Moore, Daniel A. Sprague, Juliana E. Gentile +18 more
2026Nucleic Acid Therapeutics0 citations
Semantic Scholar
BI-TfR1 CapX rapidly transits the blood-brain barrier for efficient, low-dose gene delivery throughout the CNS
Ken Y. Chan, Chin-Yen Lin, Qin Huang, Simon Pacouret +14 more
2026bioRxiv0 citations Open access
Semantic Scholar
Mortality of Individuals With PRNP Variants Associated With Prion Disease in the United States, 1998–2024
Yuan Lian, Keisi Kotobelli, Katie Glisic, Daniel A. Sprague +3 more
2026Neurology: Genetics0 citations Open access
Semantic Scholar
Aggregation and analysis of 25 years of prion disease natural history extracted from published literature
Leo M. H. Xu, Daniel A. Sprague, Sonia M. Vallabh, E. Minikel
2026medRxiv0 citations Open access
Semantic Scholar
Phenotypic screening for small molecules that lower PrP in cultured cells
Jeannine A. Frei, A. Reidenbach, Leo M. H. Xu, R. Gopalakrishnan +11 more
2026Molecular and cellular neurosciences0 citations Open access
Semantic Scholar
Evidence that minocycline treatment confounds the interpretation of neurofilament as a biomarker
Juliana E. Gentile, Christina N Heiss, Taylor L. Corridon, M. Mortberg +18 more
2024medRxiv0 citations Open access
Semantic Scholar
Search for a genetic cause of variably protease-sensitive prionopathy
Yuan Lian, Keisi Kotobelli, Stacey Hall, M. Talkowski +4 more
2024medRxiv0 citations Open access
Semantic Scholar
91 Investigation of Cognitive Differences in Pre-Symptomatic Known PRNP Mutation Carriers vs. Non-Carriers
Abaigeal M Ford, Lauren E Sather, Nadine A. Schwab, Shona Allen +3 more
2023Journal of the International Neuropsychological Society0 citations Open access
Semantic Scholar
Preventing Prions.
E. Minikel, Sonia M. Vallabh
2020Scientific American0 citations
Semantic Scholar

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E. Minikel×38
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E. Minikel — researcher profile on SciRah
M. Mortberg×14
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M. Mortberg — researcher profile on SciRah
Yuan Lian×11
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Yuan Lian — researcher profile on SciRah
Juliana E. Gentile×11
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A. Reidenbach — researcher profile on SciRah

Hien T. Zhao×8

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Hien T. Zhao — researcher profile on SciRah

S. Schreiber×8

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S. Schreiber — researcher profile on SciRah

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Kenia Guzman×8

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Taylor L. Corridon×8

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Taylor L. Corridon — researcher profile on SciRah