Author details

Full Name

Eric Vallabh Minikel

Affiliation

ORCID

Career Start Year

2012

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37188501	A single-cell map of antisense oligonucleotide activity in the brain.	Nucleic Acids Res	2023
36651748	Therapeutic Trial of anle138b in Mouse Models of Genetic Prion Disease.		2023
36824749	A single-cell map of antisense oligonucleotide activity in the brain.	bioRxiv	2023
35133987	Regional variability and genotypic and pharmacodynamic effects on PrP concentration in the CNS.	JCI Insight	2022
36271285	Disease stages and therapeutic hypotheses in two decades of neurodegenerative disease clinical trials.	Scientific Reports	2022
35994510	Analysis of non-human primate models for evaluating prion disease therapeutic efficacy.	PLoS Pathogens	2022
34373650	Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans.	Nature	2021
33536628	Author Correction: Evaluating drug targets through human loss-of-function genetic variation.	Nature	2021
33536625	Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans.	Nature	2021
33173159	Implications of new genetic risk factors in prion disease.	Nature Reviews Neurology	2021
34517052	Novel quaternary structures of the human prion protein globular domain.	Biochimie	2021
32552681	Cerebrospinal fluid and plasma biomarkers in individuals at risk for genetic prion disease.	BMC Med	2020
32199098	Towards a treatment for genetic prion disease: trials and biomarkers.	Lancet Neurol	2020
32098855	Autoantibodies against the prion protein in individuals with mutations.	Neurology	2020
32461654	The mutational constraint spectrum quantified from variation in 141,456 humans.	Nature	2020
32776089	Prion protein lowering is a disease-modifying therapy across prion disease stages, strains and endpoints.	Nucleic Acids Res	2020
31145742	Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.	PLoS Genet	2019
31558565	Domain-specific Quantification of Prion Protein in Cerebrospinal Fluid by Targeted Mass Spectrometry.	Mol Cell Proteomics	2019
31861275	Characterization of the Prion Protein Binding Properties of Antisense Oligonucleotides.	Biomolecules	2019
30609406	Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture.	Am J Hum Genet	2019
31171647	Age at onset in genetic prion disease and the design of preventive clinical trials.	Neurology	2019
31119194	Antisense oligonucleotides: A primer.	Neurology: Genetics	2019
31361599	Antisense oligonucleotides extend survival of prion-infected mice.	JCI Insight	2019
30936307	Prion protein quantification in human cerebrospinal fluid as a tool for prion disease drug development.	Proc Natl Acad Sci U S A	2019
29795570	Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.	PLoS Genet	2018
28229513	Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.	Hum Mutat	2017
28630944	ClinVar data parsing.	Wellcome Open Res	2017
28518168	Using high-resolution variant frequencies to empower clinical genome interpretation.	Genet Med	2017
27532257	Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.	Genet Med	2017
27535533	Analysis of protein-coding genetic variation in 60,706 humans.	Nature	2016
26926995	Strictly co-isogenic C57BL/6J-Prnp-/- mice: A rigorous resource for prion science.	Journal of Experimental Medicine	2016
26791950	Quantifying prion disease penetrance using large population control cohorts.	Sci Transl Med	2016
27764668	Publicly Available Data Provide Evidence against NR1H3 R415Q Causing Multiple Sclerosis.	Neuron	2016
25954003	Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome.	Science	2015
24614762	Autism spectrum disorder genetics: diverse genes with diverse clinical outcomes.	Harvard Review of Psychiatry	2014
25279981	Ascertainment bias causes false signal of anticipation in genetic prion disease.	American Journal of Human Genetics	2014
22269506	Cyclist safety on bicycle boulevards and parallel arterial routes in Berkeley, California.	Accident Analysis and Prevention	2012