ericminikel

My mission in life is to prevent prion disease.

Prion AllianceBoston, MA

Pinned Repositories

callability
Comparison of callability in whole genomes vs. whole exoms
Language:R60
cnsdrugs
List of FDA-approved drugs and CNS drugs with SMILES
Language:R31
cureffi
CureFFI.org
Language:HTML16 8 06
drug_target_lof
Evaluating potential drug targets through human loss-of-function genetic variation
Language:R11 1 08
genetic_support
Refining the impact of genetic evidence on clinical success
Language:R16 2 23
minimal_representation
Convert genetic variants to minimal representation
Language:Python23 4 07
ngs-scripts
Scripts dealing with various aspects of next-gen sequence data. QC, CNVs, etc
Language:R45
prnp_penetrance
Analysis of the penetrance of missense variants and tolerability of loss-of-function variants in PRNP
Language:R90
scaso
A single-cell map of antisense oligonucleotide activity in the brain
Language:R5 1 00

ericminikel's Repositories

ericminikel/minimal_representation
Convert genetic variants to minimal representation
Language:Python23 4 07
ericminikel/cureffi
CureFFI.org
Language:HTML16 8 06
ericminikel/genetic_support
Refining the impact of genetic evidence on clinical success
Language:R16 2 23
ericminikel/drug_target_lof
Evaluating potential drug targets through human loss-of-function genetic variation
Language:R11 1 08
ericminikel/scaso
A single-cell map of antisense oligonucleotide activity in the brain
Language:R5 1 00
ericminikel/ngs-scripts
Scripts dealing with various aspects of next-gen sequence data. QC, CNVs, etc
Language:R45
ericminikel/prp_lowering
Prion protein lowering is a disease-modifying therapy across prion strains, disease stages, and endpoints
Language:R3
ericminikel/binder_screening
Screening for small-molecule PrP binders
Language:R2
ericminikel/aso_in_vitro
Characterization of the prion protein binding properties of antisense oligonucleotides
Language:R1 2 0
ericminikel/aso_survival
Antisense oligonucleotides extend survival of prion-infected mice
Language:R1 0 0
ericminikel/cns_prp_quant
PrP concentration in the central nervous system
Language:R1
ericminikel/cryptic_exon
Modulation of prion protein expression through cryptic splice site manipulation
Language:R1 1 0
ericminikel/phewas_prnp
Phenome-wide association for PRNP - analyses for a blog post
Language:R1
ericminikel/prnp_onset
Age of onset in genetic prion diease and the design of preventive clinical trials
Language:R1
ericminikel/anle138b
Therapeutic trial of anle138b in mouse models of genetic prion disease
Language:R
ericminikel/base_editing
Data and code for a manuscript
Language:R
ericminikel/csf_prp_quantification
Quantification of PrP in CSF as a pharmacodynamic biomarker
Language:R
ericminikel/cumulus-AC_1c
Cloud-based scalable and efficient single-cell genomics workflows
ericminikel/genetics_side_effects
Human genetic evidence enriches for side effects of approved drugs
Language:R
ericminikel/gpi
Analysis of GPI-anchored proteins
Language:R
ericminikel/hydrocephalus
Analysis of hydrocephalus reports in nusinersen
Language:R
ericminikel/mgh_prnp_fluid_biomarkers
Results from the MGH fluid biomarker study in individuals at risk for genetic prion disease
Language:R
ericminikel/mgh_prnp_freeze2
Biomarker changes preceding symptom onset in genetic prion disease
Language:R
ericminikel/mino
Evidence that minocycline treatment confounds the interpretation of neurofilament as a biomarker
Language:R
ericminikel/mok_commentary
Commentary piece on Mok 2023
Language:R
ericminikel/nd_trials
Analysis of neurodegenerative disease clinical trials
Language:R
ericminikel/nhp_models
Analysis of NHP models of prion infection
Language:R
ericminikel/prevention_plaidoyer
Passionate patient's prion prevention plaidoyer
Language:R1
ericminikel/prionalliance
PrionAlliance.org
Language:HTML
ericminikel/prp_mrm
PrP MRM: prion protein multiple reaction monitoring
Language:R