A collection of our writing and research works.

Minikel EV, Zhao HT, Le J, O’Moore J, Pitstick R, Graffam S, Carlson GA, Kavanaugh MP, Kriz J, Kim JB, Ma J, Wille H, Aiken J, McKenzie D, Doh-Ura K, Beck M, O’Keefe R, Stathopoulos J, Caron T, Schreiber SL, Carroll JB, Kordasiewicz HB, Cabin DE, Vallabh SM. Prion protein lowering is a disease-modifying therapy across prion disease stages, strains and endpoints. Nucleic Acids Res. 2020 Aug 10. PMID: 32776089. Full text

Reidenbach AG, Mesleh MF, Casalena D, Vallabh SM, Dahlin JL, Leed AJ, Chan AI, Usanov DL, Yehl JB, Lemke CT, Campbell AJ, Shah RN, Shrestha OK, Sacher JR, Rangel VL, Moroco JA, Sathappa M, Nonato MC, Nguyen KT, Wright SK, Liu DR, Wagner FF, Kaushik VK, Auld DS, Schreiber SL, Minikel EV. Multimodal small-molecule screening for human prion protein binders. J Biol Chem. 2020 Jul 28. PMID: 32723867. Full text

Minikel EV, Karczewski KJ, Martin HC, Cummings BB, Whiffin N, Rhodes D, Alföldi J, Trembath RC, van Heel DA, Daly MJ, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Schreiber SL, MacArthur DG. Evaluating drug targets through human loss-of-function genetic variation. Nature. 2020 May;581(7809):459–464. PMID: 32461653. PMCID: PMC7272226. Full text. Original article at Nature.com.

Vallabh SM, Minikel EV. Preventing prions. Scientific American. March 2020. Full text ©2020 Scientific American. Reproduced with permission. Original article available at Sciam.com.

Vallabh SM, Minikel EV, Williams VJ, Carlyle BC, McManus AJ, Wennick CD, Bolling A, Trombetta BA, Urick D, Nobuhara CK, Gerber J, Duddy H, Lachmann I, Stehmann C, Collins SJ, Blennow K, Zetterberg H, Arnold SE. Cerebrospinal fluid and plasma biomarkers in individuals at risk for genetic prion disease. BMC Med. 2020 Jun 18;18(1):140. PMCID: PMC7302371. Full text. Original article available at biomedcentral.com.

Vallabh SM, Minikel EV, Schreiber SL, Lander ES. Towards a treatment for genetic prion disease: trials and biomarkers. The Lancet Neurology. 2020;19(4):361–368. Full text. Original article available at TheLancet.com

Vallabh SM. The Patient-Scientist’s Mandate. N Engl J Med. 2020 Jan 9;382(2):107–109. PMID: 31914240. Full text. ©2020 Massachusetts Medical Society. Reprinted with permission. Original article available at NEJM.org

Reidenbach AG, Minikel EV, Zhao HT, Guzman SG, Leed AJ, Mesleh MF, Kordasiewicz HB, Schreiber SL, Vallabh SM. Characterization of the Prion Protein Binding Properties of Antisense Oligonucleotides. Biomolecules. 2019 Dec 18;10(1). PMID: 31861275. Full text. Original article at mdpi.com.

Minikel EV, Kuhn E, Cocco AR, Vallabh SM, Hartigan CR, Reidenbach AG, Safar JG, Raymond GJ, McCarthy MD, O’Keefe R, Llorens F, Zerr I, Capellari S, Parchi P, Schreiber SL, Carr SA. Domain-specific quantification of prion protein in cerebrospinal fluid by targeted mass spectrometry. Mol Cell Proteomics. 2019 Sep 26; PMID: 31558565. Full text. Original article at mcponline.org.

Raymond GJ, Zhao HT, Race B, Raymond LD, Williams K, Swayze EE, Graffam S, Le J, Caron T, Stathopoulos J, O’Keefe R, Lubke LL, Reidenbach AG, Kraus A, Schreiber SL, Mazur C, Cabin DE, Carroll JB, Minikel EV, Kordasiewicz H, Caughey B, Vallabh SM. Antisense oligonucleotides extend survival of prion-infected mice. JCI Insight. 2019 30;5. PMID: 31361599. Full text. Original article at jci.org.

Vallabh SM, Nobuhara CK, Llorens F, Zerr I, Parchi P, Capellari S, Kuhn E, Klickstein J, Safar JG, Nery FC, Swoboda KJ, Geschwind MD, Zetterberg H, Arnold SE, Minikel EV, Schreiber SL. Prion protein quantification in human cerebrospinal fluid as a tool for prion disease drug development. PNAS. 2019 Apr 1;201901947. PMID: 30936307. Full text. Original article at PNAS.org.

Minikel EV, Vallabh SM, Orseth MC, Brandel J-P, Haïk S, Laplanche J-L, Zerr I, Parchi P, Capellari S, Safar J, Kenny J, Fong JC, Takada LT, Ponto C, Hermann P, Knipper T, Stehmann C, Kitamoto T, Ae R, Hamaguchi T, Sanjo N, Tsukamoto T, Mizusawa H, Collins SJ, Chiesa R, Roiter I, de Pedro-Cuesta J, Calero M, Geschwind MD, Yamada M, Nakamura Y, Mead S. Age at onset in genetic prion disease and the design of preventive clinical trials. Neurology. 2019 Jun 6; PMID: 31171647. PMCID: PMC6656649. Full text. Original article at Neurology.org.

Minikel EV, Vallabh SM, Lek M, Estrada K, Samocha KE, Sathirapongsasuti JF, McLean CY, Tung JY, Yu LPC, Gambetti P, Blevins J, Zhang S, Cohen Y, Chen W, Yamada M, Hamaguchi T, Sanjo N, Mizusawa H, Nakamura Y, Kitamoto T, Collins SJ, Boyd A, Will RG, Knight R, Ponto C, Zerr I, Kraus TFJ, Eigenbrod S, Giese A, Calero M, de Pedro-Cuesta J, Haïk S, Laplanche J-L, Bouaziz-Amar E, Brandel J-P, Capellari S, Parchi P, Poleggi A, Ladogana A, O’Donnell-Luria AH, Karczewski KJ, Marshall JL, Boehnke M, Laakso M, Mohlke KL, Kähler A, Chambert K, McCarroll S, Sullivan PF, Hultman CM, Purcell SM, Sklar P, van der Lee SJ, Rozemuller A, Jansen C, Hofman A, Kraaij R, van Rooij JGJ, Ikram MA, Uitterlinden AG, van Duijn CM, Exome Aggregation Consortium (ExAC), Daly MJ, MacArthur DG. Quantifying prion disease penetrance using large population control cohorts. Sci Transl Med. 2016 Jan 20;8(322):322ra9. PMCID: PMC4774245. Full text. Original article at sciencemag.org.

Minikel EV, Zerr I, Collins SJ, Ponto C, Boyd A, Klug G, Karch A, Kenny J, Collinge J, Takada LT, Forner S, Fong JC, Mead S, Geschwind MD. Ascertainment bias causes false signal of anticipation in genetic prion disease. Am J Hum Genet. 2014 Oct 2;95(4):371–382. PMCID: PMC4185115. Full text. Original article at Cell.com.