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Toshiro Kendrick Ohsumi, Ph.D.

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Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Adam S, Rossi SE, Moatti N, De Marco Zompit M, Xue Y, Ng TF, Álvarez-Quilón A, Desjardins J, Bhaskaran V, Martino G, Setiaputra D, Noordermeer SM, Ohsumi TK, Hustedt N, Szilard RK, Chaudhary N, Munro M, Veloso A, Melo H, Yin SY, Papp R, Young JTF, Zinda M, Stucki M, Durocher D. The CIP2A-TOPBP1 axis safeguards chromosome stability and is a synthetic lethal target for BRCA-mutated cancer. Nat Cancer. 2021 12; 2(12):1357-1371. PMID: 35121901.
    Citations: 13     Translation:Humans
  2. Ward HN, Aregger M, Gonatopoulos-Pournatzis T, Billmann M, Ohsumi TK, Brown KR, Blencowe BJ, Moffat J, Myers CL. Analysis of combinatorial CRISPR screens with the Orthrus scoring pipeline. Nat Protoc. 2021 10; 16(10):4766-4798. PMID: 34508259; PMCID: PMC9084619.
    Citations: 1     Fields:    
  3. Badran YR, Dedeoglu F, Leyva Castillo JM, Bainter W, Ohsumi TK, Bousvaros A, Goldsmith JD, Geha RS, Chou J. Human RELA haploinsufficiency results in autosomal-dominant chronic mucocutaneous ulceration. J Exp Med. 2017 Jul 03; 214(7):1937-1947. PMID: 28600438; PMCID: PMC5502421.
    Citations: 32     Fields:    Translation:HumansAnimalsCells
  4. Massaad MJ, Zhou J, Tsuchimoto D, Chou J, Jabara H, Janssen E, Glauzy S, Olson BG, Morbach H, Ohsumi TK, Schmitz K, Kyriacos M, Kane J, Torisu K, Nakabeppu Y, Notarangelo LD, Chouery E, Megarbane A, Kang PB, Al-Idrissi E, Aldhekri H, Meffre E, Mizui M, Tsokos GC, Manis JP, Al-Herz W, Wallace SS, Geha RS. Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity. J Clin Invest. 2016 11 01; 126(11):4219-4236. PMID: 27760045; PMCID: PMC5096910.
    Citations: 39     Fields:    Translation:HumansAnimalsCells
  5. Khanna S, Pardi DS, Kelly CR, Kraft CS, Dhere T, Henn MR, Lombardo MJ, Vulic M, Ohsumi T, Winkler J, Pindar C, McGovern BH, Pomerantz RJ, Aunins JG, Cook DN, Hohmann EL. A Novel Microbiome Therapeutic Increases Gut Microbial Diversity and Prevents Recurrent Clostridium difficile Infection. J Infect Dis. 2016 07 15; 214(2):173-81. PMID: 26908752.
    Citations: 123     Fields:    Translation:HumansCellsPHPublic Health
  6. Jabara HH, Boyden SE, Chou J, Ramesh N, Massaad MJ, Benson H, Bainter W, Fraulino D, Rahimov F, Sieff C, Liu ZJ, Alshemmari SH, Al-Ramadi BK, Al-Dhekri H, Arnaout R, Abu-Shukair M, Vatsayan A, Silver E, Ahuja S, Davies EG, Sola-Visner M, Ohsumi TK, Andrews NC, Notarangelo LD, Fleming MD, Al-Herz W, Kunkel LM, Geha RS. A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency. Nat Genet. 2016 Jan; 48(1):74-8. PMID: 26642240.
    Citations: 98     Fields:    Translation:HumansAnimalsCells
  7. Yee CS, Massaad MJ, Bainter W, Ohsumi TK, Föger N, Chan AC, Akarsu NA, Aytekin C, Ayvaz DÇ, Tezcan I, Sanal Ö, Geha RS, Chou J. Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association. J Allergy Clin Immunol. 2016 Mar; 137(3):879-88.e2. PMID: 26476480; PMCID: PMC4783242.
    Citations: 16     Fields:    Translation:HumansAnimalsCells
  8. Dobbs K, Domínguez Conde C, Zhang SY, Parolini S, Audry M, Chou J, Haapaniemi E, Keles S, Bilic I, Okada S, Massaad MJ, Rounioja S, Alwahadneh AM, Serwas NK, Capuder K, Çiftçi E, Felgentreff K, Ohsumi TK, Pedergnana V, Boisson B, Haskologlu S, Ensari A, Schuster M, Moretta A, Itan Y, Patrizi O, Rozenberg F, Lebon P, Saarela J, Knip M, Petrovski S, Goldstein DB, Parrott RE, Savas B, Schambach A, Tabellini G, Bock C, Chatila TA, Comeau AM, Geha RS, Abel L, Buckley RH, Ikinciogullari A, Al-Herz W, Helminen M, Dogu F, Casanova JL, Boztug K, Notarangelo LD. Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections. N Engl J Med. 2015 Jun 18; 372(25):2409-22. PMID: 26083206; PMCID: PMC4480434.
    Citations: 86     Fields:    Translation:HumansCells
  9. Chou J, Badran YR, Yee CSK, Bainter W, Ohsumi TK, Al-Hammadi S, Pai SY, Feske S, Geha RS. A novel mutation in ORAI1 presenting with combined immunodeficiency and residual T-cell function. J Allergy Clin Immunol. 2015 Aug; 136(2):479-482.e1. PMID: 26070885; PMCID: PMC4530045.
    Citations: 16     Fields:    Translation:HumansCells
  10. Charbonnier LM, Janssen E, Chou J, Ohsumi TK, Keles S, Hsu JT, Massaad MJ, Garcia-Lloret M, Hanna-Wakim R, Dbaibo G, Alangari AA, Alsultan A, Al-Zahrani D, Geha RS, Chatila TA. Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA. J Allergy Clin Immunol. 2015 Jan; 135(1):217-27. PMID: 25468195; PMCID: PMC4289093.
    Citations: 97     Fields:    Translation:HumansCells
  11. Hedayat M, Massaad MJ, Lee YN, Conley ME, Orange JS, Ohsumi TK, Al-Herz W, Notarangelo LD, Geha RS, Chou J. Lessons in gene hunting: a RAG1 mutation presenting with agammaglobulinemia and absence of B cells. J Allergy Clin Immunol. 2014 Oct; 134(4):983-5.e1. PMID: 24985406; PMCID: PMC4186892.
    Citations: 5     Fields:    Translation:HumansCells
  12. Phillips CM, Montgomery BE, Breen PC, Roovers EF, Rim YS, Ohsumi TK, Newman MA, van Wolfswinkel JC, Ketting RF, Ruvkun G, Montgomery TA. MUT-14 and SMUT-1 DEAD box RNA helicases have overlapping roles in germline RNAi and endogenous siRNA formation. Curr Biol. 2014 Apr 14; 24(8):839-44. PMID: 24684932.
    Citations: 32     Fields:    Translation:AnimalsCells
  13. Hickman SE, Kingery ND, Ohsumi TK, Borowsky ML, Wang LC, Means TK, El Khoury J. The microglial sensome revealed by direct RNA sequencing. Nat Neurosci. 2013 Dec; 16(12):1896-905. PMID: 24162652.
    Citations: 677     Fields:    Translation:AnimalsCells
  14. Jabara HH, Ohsumi T, Chou J, Massaad MJ, Benson H, Megarbane A, Chouery E, Mikhael R, Gorka O, Gewies A, Portales P, Nakayama T, Hosokawa H, Revy P, Herrod H, Le Deist F, Lefranc G, Ruland J, Geha RS. A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency. J Allergy Clin Immunol. 2013 Jul; 132(1):151-8. PMID: 23727036; PMCID: PMC3700575.
    Citations: 57     Fields:    Translation:HumansAnimalsCells
  15. Apostolou E, Ferrari F, Walsh RM, Bar-Nur O, Stadtfeld M, Cheloufi S, Stuart HT, Polo JM, Ohsumi TK, Borowsky ML, Kharchenko PV, Park PJ, Hochedlinger K. Genome-wide chromatin interactions of the Nanog locus in pluripotency, differentiation, and reprogramming. Cell Stem Cell. 2013 Jun 06; 12(6):699-712. PMID: 23665121.
    Citations: 114     Fields:    Translation:HumansAnimalsCells
  16. Chen L, Stuart L, Ohsumi TK, Burgess S, Varshney GK, Dastur A, Borowsky M, Benes C, Lacy-Hulbert A, Schmidt EV. Transposon activation mutagenesis as a screening tool for identifying resistance to cancer therapeutics. BMC Cancer. 2013 Feb 27; 13:93. PMID: 23442791.
    Citations: 17     Fields:    Translation:HumansCells
  17. Chou J, Ohsumi TK, Geha RS. Use of whole exome and genome sequencing in the identification of genetic causes of primary immunodeficiencies. Curr Opin Allergy Clin Immunol. 2012 Dec; 12(6):623-8. PMID: 23095910.
    Citations: 27     Fields:    Translation:HumansAnimalsCells
  18. Pinter SF, Sadreyev RI, Yildirim E, Jeon Y, Ohsumi TK, Borowsky M, Lee JT. Spreading of X chromosome inactivation via a hierarchy of defined Polycomb stations. Genome Res. 2012 Oct; 22(10):1864-76. PMID: 22948768.
    Citations: 98     Fields:    Translation:AnimalsCells
  19. Ohsumi TK, Borowsky ML. MolBioLib: a C++11 framework for rapid development and deployment of bioinformatics tasks. Bioinformatics. 2012 Oct 01; 28(19):2412-6. PMID: 22815363.
    Citations: 6     Fields:    
  20. Talkowski ME, Rosenfeld JA, Blumenthal I, Pillalamarri V, Chiang C, Heilbut A, Ernst C, Hanscom C, Rossin E, Lindgren AM, Pereira S, Ruderfer D, Kirby A, Ripke S, Harris DJ, Lee JH, Ha K, Kim HG, Solomon BD, Gropman AL, Lucente D, Sims K, Ohsumi TK, Borowsky ML, Loranger S, Quade B, Lage K, Miles J, Wu BL, Shen Y, Neale B, Shaffer LG, Daly MJ, Morton CC, Gusella JF. Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell. 2012 Apr 27; 149(3):525-37. PMID: 22521361.
    Citations: 293     Fields:    Translation:HumansCells
  21. Chiang C, Jacobsen JC, Ernst C, Hanscom C, Heilbut A, Blumenthal I, Mills RE, Kirby A, Lindgren AM, Rudiger SR, McLaughlan CJ, Bawden CS, Reid SJ, Faull RL, Snell RG, Hall IM, Shen Y, Ohsumi TK, Borowsky ML, Daly MJ, Lee C, Morton CC, MacDonald ME, Gusella JF, Talkowski ME. Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration. Nat Genet. 2012 Mar 04; 44(4):390-7, S1. PMID: 22388000.
    Citations: 128     Fields:    Translation:HumansAnimalsCells
  22. Yuan CC, Matthews AG, Jin Y, Chen CF, Chapman BA, Ohsumi TK, Glass KC, Kutateladze TG, Borowsky ML, Struhl K, Oettinger MA. Histone H3R2 symmetric dimethylation and histone H3K4 trimethylation are tightly correlated in eukaryotic genomes. Cell Rep. 2012 Feb 23; 1(2):83-90. PMID: 22720264.
    Citations: 34     Fields:    Translation:AnimalsCells
  23. Sharp JA, Plant JJ, Ohsumi TK, Borowsky M, Blower MD. Functional analysis of the microtubule-interacting transcriptome. Mol Biol Cell. 2011 Nov; 22(22):4312-23. PMID: 21937723.
    Citations: 32     Fields:    Translation:AnimalsCells
  24. Talkowski ME, Ernst C, Heilbut A, Chiang C, Hanscom C, Lindgren A, Kirby A, Liu S, Muddukrishna B, Ohsumi TK, Shen Y, Borowsky M, Daly MJ, Morton CC, Gusella JF. Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research. Am J Hum Genet. 2011 Apr 08; 88(4):469-81. PMID: 21473983.
    Citations: 84     Fields:    Translation:HumansCells
  25. Zhao J, Ohsumi TK, Kung JT, Ogawa Y, Grau DJ, Sarma K, Song JJ, Kingston RE, Borowsky M, Lee JT. Genome-wide identification of polycomb-associated RNAs by RIP-seq. Mol Cell. 2010 Dec 22; 40(6):939-53. PMID: 21172659.
    Citations: 528     Fields:    Translation:HumansAnimalsCells
  26. Lau NC, Ohsumi T, Borowsky M, Kingston RE, Blower MD. Systematic and single cell analysis of Xenopus Piwi-interacting RNAs and Xiwi. EMBO J. 2009 Oct 07; 28(19):2945-58. PMID: 19713941.
    Citations: 40     Fields:    Translation:AnimalsCells
  27. Nusbaum C, Ohsumi TK, Gomez J, Aquadro J, Victor TC, Warren RM, Hung DT, Birren BW, Lander ES, Jaffe DB. Sensitive, specific polymorphism discovery in bacteria using massively parallel sequencing. Nat Methods. 2009 Jan; 6(1):67-9. PMID: 19079253.
    Citations: 45     Fields:    Translation:Cells
  28. Ohsumi TK, Flaherty JE, Evans MC, Barocas VH. Three-dimensional simulation of anisotropic cell-driven collagen gel compaction. Biomech Model Mechanobiol. 2008 Feb; 7(1):53-62. PMID: 17354006.
    Citations: 10     Fields:    
  29. Caraco T, Glavanakov S, Chen G, Flaherty JE, Ohsumi TK, Szymanski BK. Stage-structured infection transmission and a spatial epidemic: a model for Lyme disease. Am Nat. 2002 Sep; 160(3):348-59. PMID: 18707444.
    Citations: 14     Fields:    
  30. Ohsumi TK, Flaherty JE, Barocas VH, Adjerid S, Aiffa M. Adaptive Finite Element Analysis of the Anisotropic Biphasic Theory of Tissue-Equivalent Mechanics. Comput Methods Biomech Biomed Engin. 2000; 3(3):215-229. PMID: 11264849.
    Citations:    Fields:    
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.