Eric Vallabh Minikel
Eric Vallabh Minikel
Prion Scientist, Broad Institute of MIT and Harvard
Geverifieerd e-mailadres voor broadinstitute.org - Homepage
Geciteerd door
Geciteerd door
Analysis of protein-coding genetic variation in 60,706 humans
M Lek, KJ Karczewski, EV Minikel, KE Samocha, E Banks, T Fennell, ...
Nature 536 (7616), 285-291, 2016
The mutational constraint spectrum quantified from variation in 141,456 humans
KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alföldi, Q Wang, ...
Nature 581 (7809), 434-443, 2020
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
R Walsh, KL Thomson, JS Ware, BH Funke, J Woodley, KJ McGuire, ...
Genetics in Medicine 19 (2), 192-203, 2017
Using high-resolution variant frequencies to empower clinical genome interpretation
N Whiffin, E Minikel, R Walsh, AH O’Donnell-Luria, K Karczewski, AY Ing, ...
Genetics in Medicine 19 (10), 1151-1158, 2017
Quantifying prion disease penetrance using large population control cohorts
EV Minikel, SM Vallabh, M Lek, K Estrada, KE Samocha, ...
Science translational medicine 8 (322), 322ra9-322ra9, 2016
Effect of predicted protein-truncating genetic variants on the human transcriptome
MA Rivas, M Pirinen, DF Conrad, M Lek, EK Tsang, KJ Karczewski, ...
Science 348 (6235), 666-669, 2015
Antisense oligonucleotides: A primer
DR Scoles, EV Minikel, SM Pulst
Neurology: Genetics 5 (2), e323, 2019
Evaluating drug targets through human loss-of-function genetic variation
EV Minikel, KJ Karczewski, HC Martin, BB Cummings, N Whiffin, ...
Nature 581 (7809), 459-464, 2020
Strictly co-isogenic C57BL/6J-Prnp−/− mice: A rigorous resource for prion science
M Nuvolone, M Hermann, S Sorce, G Russo, C Tiberi, P Schwarz, ...
Journal of Experimental Medicine 213 (3), 313-327, 2016
The effect of LRRK2 loss-of-function variants in humans
N Whiffin, IM Armean, A Kleinman, JL Marshall, EV Minikel, JK Goodrich, ...
Nature Medicine 26 (6), 869-877, 2020
Antisense oligonucleotides extend survival of prion-infected mice
GJ Raymond, HT Zhao, B Race, LD Raymond, K Williams, EE Swayze, ...
JCI insight 4 (16), 2019
Autism spectrum disorder genetics: diverse genes with diverse clinical outcomes
ME Talkowski, EV Minikel, JF Gusella
Harvard review of psychiatry 22 (2), 65-75, 2014
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population
MA Rivas, BE Avila, J Koskela, H Huang, C Stevens, M Pirinen, ...
PLoS genetics 14 (5), e1007329, 2018
Cyclist safety on bicycle boulevards and parallel arterial routes in Berkeley, California
E Minikel
Accident Analysis & Prevention 45, 241-247, 2012
Prion protein lowering is a disease-modifying therapy across prion disease stages, strains and endpoints
EV Minikel, HT Zhao, J Le, J O’Moore, R Pitstick, S Graffam, GA Carlson, ...
Nucleic acids research 48 (19), 10615-10631, 2020
Age of onset in genetic prion disease and the design of preventive clinical trials
E Minikel, S Vallabh, M Orseth, JP Brandel, S Haik, JL Laplanche, I Zerr, ...
Neurology 92, P1. 1-010, 2019
Towards a treatment for genetic prion disease: trials and biomarkers
SM Vallabh, EV Minikel, SL Schreiber, ES Lander
The Lancet Neurology 19 (4), 361-368, 2020
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring–Opitz Syndrome
CM Carlston, AH O'Donnell‐Luria, HR Underhill, BB Cummings, ...
Human mutation 38 (5), 517-523, 2017
Measuring per mile risk for pay-as-you-drive automobile insurance
J Ferreira Jr, E Minikel
Transportation research record 2297 (1), 97-103, 2012
Ascertainment bias causes false signal of anticipation in genetic prion disease
EV Minikel, I Zerr, SJ Collins, C Ponto, A Boyd, G Klug, A Karch, J Kenny, ...
The American Journal of Human Genetics 95 (4), 371-382, 2014
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