Lista de obras - Eric Minikel - Dominio Público Uruguay

Age at onset in genetic prion disease and the design of preventive clinical trials

scientific article published on 06 June 2019

Age of onset in genetic prion disease and the design of preventive clinical trials

Analysis of protein-coding genetic variation in 60,706 humans

artículo científico publicado en 2016

Antisense oligonucleotides extend survival of prion-infected mice

artículo científico publicado en 2019

Antisense oligonucleotides: A primer

Ascertainment bias causes false signal of anticipation in genetic prion disease

artículo científico publicado en 2014

Autism spectrum disorder genetics: diverse genes with diverse clinical outcomes

artículo científico

Autoantibodies against the prion protein in individuals with PRNP mutations

artículo científico publicado en 2020

Brainwide silencing of prion protein by AAV-mediated delivery of an engineered compact epigenetic editor

artículo científico publicado en 2024

Characterization of the Prion Protein Binding Properties of Antisense Oligonucleotides

scientific article published on 18 December 2019

ClinVar data parsing

artículo científico publicado en 2017

Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

correction of a scientific article; published on 30 May 2019

Disease stages and therapeutic hypotheses in two decades of neurodegenerative disease clinical trials

artículo científico publicado en 2022

Domain-specific Quantification of Prion Protein in Cerebrospinal Fluid by Targeted Mass Spectrometry

artículo científico publicado en 2019

Evaluating potential drug targets through human loss-of-function genetic variation

artículo científico publicado en 2019

Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome

artículo científico publicado en 2015

Human loss-of-function variants suggest that partial LRRK2 inhibition is a safe therapeutic strategy for Parkinson’s disease

artículo científico publicado en 2019

Implications of new genetic risk factors in prion disease

scientific article published on 10 November 2020

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

artículo científico publicado en 2018

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

preprint published 25 September 2016

Multimodal small-molecule screening for human prion protein binders

artículo científico publicado en 2020

Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome

artículo científico publicado en 2017

Prion protein lowering is a disease-modifying therapy across prion disease stages, strains and endpoints

scientific article published on 10 August 2020

Prion protein quantification in cerebrospinal fluid as a tool for prion disease drug development

article

Prion protein quantification in human cerebrospinal fluid as a tool for prion disease drug development

artículo científico publicado en 2019

Publicly Available Data Provide Evidence against NR1H3 R415Q Causing Multiple Sclerosis

artículo científico publicado en 2016

Quantifying prion disease penetrance using large population control cohorts

artículo científico publicado en 2016

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

article

Strictly co-isogenic C57BL/6J-Prnp −/− mice: A rigorous resource for prion science

artículo científico publicado en 2016

Strictly co-isogenic C57BL/6J-Prnp-/- mice: A rigorous resource for prion science

artículo científico publicado en 2016

Towards a treatment for genetic prion disease: trials and biomarkers

artículo científico publicado en 2020

Using high-resolution variant frequencies to empower clinical genome interpretation

article published in 2016

Lista de obras de Eric Minikel

Age at onset in genetic prion disease and the design of preventive clinical trials

Age of onset in genetic prion disease and the design of preventive clinical trials

Analysis of protein-coding genetic variation in 60,706 humans

Antisense oligonucleotides extend survival of prion-infected mice

Antisense oligonucleotides: A primer

Ascertainment bias causes false signal of anticipation in genetic prion disease

Autism spectrum disorder genetics: diverse genes with diverse clinical outcomes

Autoantibodies against the prion protein in individuals with PRNP mutations

Brainwide silencing of prion protein by AAV-mediated delivery of an engineered compact epigenetic editor

Characterization of the Prion Protein Binding Properties of Antisense Oligonucleotides

ClinVar data parsing

Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

Disease stages and therapeutic hypotheses in two decades of neurodegenerative disease clinical trials

Domain-specific Quantification of Prion Protein in Cerebrospinal Fluid by Targeted Mass Spectrometry

Evaluating potential drug targets through human loss-of-function genetic variation

Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome

Human loss-of-function variants suggest that partial LRRK2 inhibition is a safe therapeutic strategy for Parkinson’s disease

Implications of new genetic risk factors in prion disease

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

Multimodal small-molecule screening for human prion protein binders

Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome

Prion protein lowering is a disease-modifying therapy across prion disease stages, strains and endpoints

Prion protein quantification in cerebrospinal fluid as a tool for prion disease drug development

Prion protein quantification in human cerebrospinal fluid as a tool for prion disease drug development

Publicly Available Data Provide Evidence against NR1H3 R415Q Causing Multiple Sclerosis

Quantifying prion disease penetrance using large population control cohorts

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

Strictly co-isogenic C57BL/6J-Prnp −/− mice: A rigorous resource for prion science

Strictly co-isogenic C57BL/6J-Prnp-/- mice: A rigorous resource for prion science

Towards a treatment for genetic prion disease: trials and biomarkers

Using high-resolution variant frequencies to empower clinical genome interpretation