Eric Vallabh Minikel

Broad Institute — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

39h-index29.4kcitations119works27.22yr avg
OpenAlex↗ORCID↗Google Scholar↗Lab page↗

Accepting Students?

No reports yet. Know if this professor is taking students?

Research Topics

Prion Diseases and Protein Misfolding(49), Genomics and Rare Diseases(33), Neurological diseases and metabolism(20), Trace Elements in Health(17), RNA Research and Splicing(14)

Publications115 total

Mortality of individuals with antemortem genetic testing for <i>PRNP</i> variants in the United States, 1998-2024
2025· 1 citedOpen Access
Cell Type Distribution of Intrathecal Antisense Oligonucleotide Activity in Deep Brain Regions of Non-Human Primates
Nucleic Acid Therapeutics·2025· 1 citedOpen Access
Search for a genetic cause of variably protease-sensitive prionopathy
PLoS Pathogens·2025· 2 citedOpen Access
Cell type distribution of intrathecal antisense oligonucleotide activity in deep brain regions of non-human primates
2025Open Access
The effect of LRRK2 loss-of-function variants in humans
UNC Libraries·2025Open Access
Author Correction: The effect of LRRK2 loss-of-function variants in humans
UNC Libraries·2025Open Access
Human genetic evidence enriched for side effects of approved drugs
PLoS Genetics·2025· 3 citedOpen Access
Zinc Finger Repressors mediate widespread <i>PRNP</i> lowering in the nonhuman primate brain and profoundly extend survival in prion disease mice
2025· 9 citedOpen Access
Author Correction: In vivo base editing extends lifespan of a humanized mouse model of prion disease
Nature Medicine·2025Open Access
In vivo base editing extends lifespan of a humanized mouse model of prion disease
Nature Medicine·2025· 28 citedOpen Access
Evidence that minocycline treatment confounds the interpretation of neurofilament as a biomarker
Brain Communications·2025· 4 citedOpen Access
Search for a genetic cause of variably protease-sensitive prionopathy
2024· 1 citedOpen Access
Divalent siRNA for prion disease
2024· 10 citedOpen Access
PrP turnover in vivo and the time to effect of prion disease therapeutics
2024· 3 citedOpen Access
Modulation of prion protein expression through cryptic splice site manipulation
Journal of Biological Chemistry·2024· 1 citedOpen Access
Brainwide silencing of prion protein by AAV-mediated delivery of an engineered compact epigenetic editor
Science·2024· 79 citedOpen Access
Fluid Biomarkers in Individuals at Risk for Genetic Prion Disease up to Disease Conversion
Neurology·2024· 16 citedOpen Access
Evidence that minocycline treatment confounds the interpretation of neurofilament as a biomarker
2024· 5 citedOpen Access
Refining the impact of genetic evidence on clinical success
Nature·2024· 249 citedOpen Access
Modulation of prion protein expression through cryptic splice site manipulation
2023· 1 citedOpen Access
page 1 of 6Next →

Frequent Co-authors

Konrad J. Karczewski(22), Anne O’Donnell‐Luria(20), Beryl B. Cummings(18), Daniel G. MacArthur(18), James S. Ware(17), Mark J. Daly(17), Sonia M. Vallabh(17), Ben Weisburd(15), Nicola Whiffin(15), Eric Banks(14), Jessica Alföldi(14), Kaitlin E. Samocha(13), Laura D. Gauthier(13), Valentín Ruano-Rubio(13), Grace Tiao(13), Namrata Gupta(12), Stacey Donnelly(12), Stacey Gabriel(12), Kristen M. Laricchia(12), Irina M. Armean(12)