List of works - Eric Minikel

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

scientific article (publication date: 17 August 2016)

Antisense oligonucleotides extend survival of prion-infected mice

scientific article published on 30 July 2019

Antisense oligonucleotides: A primer

Ascertainment bias causes false signal of anticipation in genetic prion disease

scientific article

Autism spectrum disorder genetics: diverse genes with diverse clinical outcomes

scientific article published on March 2014

Autoantibodies against the prion protein in individuals with PRNP mutations

scientific article published on 25 February 2020

ClinVar data parsing

scientific article

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

Cyclist safety on bicycle boulevards and parallel arterial routes in Berkeley, California

scientific article

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

scientific article published on 26 September 2019

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

scientific article

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

scientific article

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

scientific article

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

preprint published 25 September 2016

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

scientific article

Multimodal small-molecule screening for human prion protein binders

scientific article published on 28 July 2020

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

scientific article published on 23 February 2017

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

scientific article published on 01 April 2019

Publicly Available Data Provide Evidence against NR1H3 R415Q Causing Multiple Sclerosis

scientific article

Quantifying prion disease penetrance using large population control cohorts

scientific article published on January 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.

scientific article published in March 2016

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

scientific article published on 29 February 2016

Using high-resolution variant frequencies to empower clinical genome interpretation

article published in 2016

List of works by 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

ClinVar data parsing

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

Cyclist safety on bicycle boulevards and parallel arterial routes in Berkeley, California

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 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

Using high-resolution variant frequencies to empower clinical genome interpretation