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Works (36)

Human genetic evidence enriched for side effects of approved drugs

PLOS Genetics
2025-03-31 | Journal article
DOI: 10.1371/journal.pgen.1011638
Contributors: Eric Vallabh Minikel; Lynn Petukhova,; Matthew R. Nelson
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Search for a genetic cause of variably protease-sensitive prionopathy

2024-12-14 | Preprint
DOI: 10.1101/2024.12.12.24318867
Contributors: Yuan Lian; Keisi Kotobelli; Stacey Hall; Michael E Talkowski; Anne O’Donnell-Luria; Sonia M Vallabh; Brian S Appleby; Eric Vallabh Minikel
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Crossref

Refining the impact of genetic evidence on clinical success

Nature
2024-05-16 | Journal article
DOI: 10.1038/s41586-024-07316-0
Contributors: Eric Vallabh Minikel; Jeffery L. Painter; Coco Chengliang Dong; Matthew R. Nelson
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Crossref

Modulation of prion protein expression through cryptic splice site manipulation

2023-12-19 | Preprint
DOI: 10.1101/2023.12.19.572439
Contributors: Juliana E. Gentile; Taylor L. Corridon; Meredith A. Mortberg; Elston Neil D’Souza; Nicola Whiffin; Eric Vallabh Minikel; Sonia M. Vallabh
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Crossref

Human genetic evidence enriched for side effects of approved drugs

2023-12-13 | Preprint
DOI: 10.1101/2023.12.12.23299869
Contributors: Eric Vallabh Minikel; Matthew R. Nelson
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Crossref

Refining the impact of genetic evidence on clinical success

2023-06-29 | Preprint
DOI: 10.1101/2023.06.23.23291765
Contributors: Eric Vallabh Minikel; Jeffery L Painter; Coco Chengliang Dong; Matthew R. Nelson
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Crossref

Therapeutic Trial of anle138b in Mouse Models of Genetic Prion Disease

Journal of Virology
2023-02-28 | Journal article
DOI: 10.1128/jvi.01672-22
Contributors: Sonia M. Vallabh; Dan Zou; Rose Pitstick; Jill O’Moore; Janet Peters; Derek Silvius; Jasna Kriz; Walker S. Jackson; George A. Carlson; Eric Vallabh Minikel et al.
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Crossref

Therapeutic trial of anle138b in mouse models of genetic prion disease

2022-10-12 | Preprint
DOI: 10.1101/2022.10.11.511739
Contributors: Sonia M Vallabh; Dan Zou; Rose Pitstick; Jill O’Moore; Janet Peters; Derek Silvius; Jasna Kriz; Walker S Jackson; George A Carlson; Eric Vallabh Minikel et al.
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Crossref

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

2022-06-17 | Preprint
DOI: 10.1101/2022.06.16.22276513
Contributors: Meredith A. Mortberg; Sonia M. Vallabh; Eric Vallabh Minikel
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Crossref

Analysis of non-human primate models for evaluating prion disease therapeutic efficacy

2022-04-07 | Preprint
DOI: 10.1101/2022.03.22.485331
Contributors: Meredith A Mortberg; Eric Vallabh Minikel; Sonia M Vallabh
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Crossref

Implications of new genetic risk factors in prion disease

Nature Reviews Neurology
2021-01-10 | Journal article
DOI: 10.1038/s41582-020-00433-0
Contributors: Sonia M. Vallabh; Eric Vallabh Minikel
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Crossref

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

2020-03-29 | Preprint
DOI: 10.1101/2020.03.27.011940
Contributors: Eric Vallabh Minikel; Hien T Zhao; Jason Le; Jill O’Moore; Rose Pitstick; Samantha Graffam; George A Carlson; Michael P Kavanaugh; Jasna Kriz; Jae Beom Kim et al.
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Crossref

Cerebrospinal fluid and plasma biomarkers in individuals at risk for genetic prion disease

2019-12-15 | Other
DOI: 10.1101/2019.12.13.19014217
Contributors: Sonia M Vallabh; Eric Vallabh Minikel; Victoria J Williams; Becky C Carlyle; Alison J McManus; Chase D Wennick; Anna Bolling; Bianca A Trombetta; David Urick; Chloe K Nobuhara et al.
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Crossref

Characterization of the prion protein binding properties of antisense oligonucleotides

2019-11-07 | Other
DOI: 10.1101/816868
Contributors: Andrew G Reidenbach; Eric Vallabh Minikel; Hien T Zhao; Stacy G Guzman; Alison J Leed; Michael F Mesleh; Holly B Kordasiewicz; Stuart L Schreiber; Sonia M Vallabh
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Crossref

Antisense oligonucleotides extend survival of prion-infected mice.

JCI insight
2019-07-30 | Journal article
DOI: 10.1172/jci.insight.131175
PMID: 31361599
PMC: PMC6777807
Source: Self-asserted source
Eric Vallabh Minikel

Antisense oligonucleotides: A primer.

Neurology. Genetics
2019-04-01 | Journal article
DOI: 10.1212/NXG.0000000000000323
PMID: 31119194
PMC: PMC6501637
Source: Self-asserted source
Eric Vallabh Minikel

Domain-specific quantification of prion protein in cerebrospinal fluid by targeted mass spectrometry

2019-04-01 | Other
DOI: 10.1101/591487
Contributors: Eric Vallabh Minikel; Eric Kuhn; Alexandra R Cocco; Sonia M Vallabh; Christina R Hartigan; Andrew G Reidenbach; Jiri G Safar; Gregory J Raymond; Michael D McCarthy; Rhonda O’Keefe et al.
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Prion protein quantification in human cerebrospinal fluid as a tool for prion disease drug development.

Proceedings of the National Academy of Sciences of the United States of America
2019-04-01 | Journal article
DOI: 10.1073/pnas.1901947116
PMID: 30936307
PMC: PMC6475435
Source: Self-asserted source
Eric Vallabh Minikel

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

2019-02-27 | Other
DOI: 10.1101/561472
Contributors: Nicola Whiffin; Irina M. Armean; Aaron Kleinman; Jamie L. Marshall; Eric V. Minikel; Konrad J. Karczewski; Beryl B. Cummings; Laurent Francioli; Kristen Laricchia; Qingbo Wang et al.
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Crossref

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

2019-01-28 | Other
DOI: 10.1101/530881
Contributors: Eric Vallabh Minikel; Konrad J Karczewski; Hilary C Martin; Beryl B Cummings; Nicola Whiffin; Jessica Alföldi; Richard C Trembath; David A van Heel; Mark J Daly; Stuart L Schreiber et al.
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Crossref

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

2018-08-29 | Other
DOI: 10.1101/401406
Contributors: Eric Vallabh Minikel; Sonia M Vallabh; Margaret C Orseth; Jean-Philippe Brandel; Stéphane Haïk; Jean-Louis Laplanche; Inga Zerr; Piero Parchi; Sabina Capellari; Jiri Safar et al.
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Crossref
grade
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Response to Shah et al: Using high-resolution variant frequencies empowers clinical genome interpretation and enables investigation of genetic architecture

2018-08-06 | Other
DOI: 10.1101/384271
Contributors: Nicola Whiffin; Angharad Roberts; Eric Minikel; Zach Zappala; Roddy Walsh; Anne H O’Donnell-Luria; Konrad J Karczewski; Steven M Harrison; Kate L Thomson; Helen Sage et al.
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Crossref

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

PLoS genetics
2018-05-24 | Journal article
DOI: 10.1371/journal.pgen.1007329
PMID: 29795570
PMC: PMC5967709
Source: Self-asserted source
Eric Vallabh Minikel

ClinVar data parsing.

Wellcome open research
2017-05-23 | Journal article
DOI: 10.12688/wellcomeopenres.11640.1
PMID: 28630944
PMC: PMC5473414
Source: Self-asserted source
Eric Vallabh Minikel

Using high-resolution variant frequencies to empower clinical genome interpretation.

Genetics in medicine : official journal of the American College of Medical Genetics
2017-05-18 | Journal article
DOI: 10.1038/gim.2017.26
PMID: 28518168
PMC: PMC5563454
Source: Self-asserted source
Eric Vallabh Minikel

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

Human mutation
2017-03-21 | Journal article
DOI: 10.1002/humu.23203
PMID: 28229513
PMC: PMC5487276
Source: Self-asserted source
Eric Vallabh Minikel

Publicly Available Data Provide Evidence against NR1H3 R415Q Causing Multiple Sclerosis.

Neuron
2016-10-01 | Journal article
DOI: 10.1016/j.neuron.2016.09.054
PMID: 27764668
PMC: PMC5123684
Source: Self-asserted source
Eric Vallabh Minikel

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

Genetics in medicine : official journal of the American College of Medical Genetics
2016-08-17 | Journal article
DOI: 10.1038/gim.2016.90
PMID: 27532257
PMC: PMC5116235
Source: Self-asserted source
Eric Vallabh Minikel

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

Nature
2016-08-01 | Journal article
DOI: 10.1038/nature19057
PMID: 27535533
PMC: PMC5018207
Source: Self-asserted source
Eric Vallabh Minikel

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

The Journal of experimental medicine
2016-02-29 | Journal article
DOI: 10.1084/jem.20151610
PMID: 26926995
PMC: PMC4813672
Source: Self-asserted source
Eric Vallabh Minikel

Quantifying prion disease penetrance using large population control cohorts.

Science translational medicine
2016-01-01 | Journal article
DOI: 10.1126/scitranslmed.aad5169
PMID: 26791950
PMC: PMC4774245
Source: Self-asserted source
Eric Vallabh Minikel

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

Science (New York, N.Y.)
2015-05-01 | Journal article
DOI: 10.1126/science.1261877
PMID: 25954003
PMC: PMC4537935
Source: Self-asserted source
Eric Vallabh Minikel

Ascertainment bias causes false signal of anticipation in genetic prion disease.

American journal of human genetics
2014-10-01 | Journal article
DOI: 10.1016/j.ajhg.2014.09.003
PMID: 25279981
PMC: PMC4185115
Source: Self-asserted source
Eric Vallabh Minikel

Autism spectrum disorder genetics: diverse genes with diverse clinical outcomes.

Harvard review of psychiatry
2014-03-01 | Journal article
DOI: 10.1097/hrp.0000000000000002
PMID: 24614762
Source: Self-asserted source
Eric Vallabh Minikel

Measuring per Mile Risk for Pay-As-You-Drive Automobile Insurance

Transportation Research Record: Journal of the Transportation Research Board
2012-01 | Journal article
DOI: 10.3141/2297-12
Part of ISSN: 0361-1981
Part of ISSN: 2169-4052
Source: Self-asserted source
Eric Vallabh Minikel

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

Accident; analysis and prevention
2011-08-04 | Journal article
DOI: 10.1016/j.aap.2011.07.009
PMID: 22269506
Source: Self-asserted source
Eric Vallabh Minikel
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