ゲノム・オデッセイ 診断のつかない患者を救う、ある医師によるゲノム医療の記録

出版社: 羊土社
著者:
発行日: 2022-12-01
分野: 基礎・関連科学  >  生命科学
ISBN: 9784758121255
電子書籍版: 2022-12-01 (第1刷)
書籍・雑誌
≪全国送料無料でお届け≫
品切れ

3,960 円(税込)

電子書籍
章別単位での購入はできません
ブラウザ、アプリ閲覧

3,960 円(税込)

商品紹介

ゲノム医療の先駆者のアシュリー博士が綴る,奮闘と革新的進歩の軌跡,そして未来.解析に挑んだチームの挑戦や患者の苦悩,大学の垣根を越えた起業の過程などを,臨場感あふれる筆致で描く.研究者,医師にお勧め!

目次

  • 第1部 ゲノムシークエンシングの夜明け
     第1章 発端
     第2章 連合チーム
     第3章 いとこの息子
     第4章 ゲノムの輝き
     第5章 最初の家族
     第6章 Buffalo Buffalo Buffalo
     第7章 起業

    第2部 疾患探偵
     第8章 未診断
     第9章 運を天に任せない
     第10章 翌日配送
     第11章 セントラルパークの蹄の音

    第3部 ゲノムと心臓
     第12章 ウィスキー・ア・ゴーゴー
     第13章 ゲノムはいくつお持ちですか?
     第14章 シェイク・ラトル・アンド・ロール
     第15章 松の木の大地を流れる川
     第16章 運命のいたずら

    第4部 精密な医療
     第17章 スーパーヒューマン
     第18章 プレシジョンメディシン
     第19章 ゲノム手術
     第20章 未来へ延びる道

この書籍の参考文献

参考文献のリンクは、リンク先の都合等により正しく表示されない場合がありますので、あらかじめご了承下さい。

本参考文献は電子書籍掲載内容を元にしております。

序文

P.14 掲載の参考文献
1 Sanger F, Air GM, Barrell BG, et al. Nucleotide sequence of bacteriophage phi X174 DNA. Nature. 1977 ; 265 (5596) : 687-695.
2 Bruder CEG, Piotrowski A, Gijsbers AACJ, et al. Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am J Hum Genet. 2008 ; 82 (3) : 763-771
Lyu G, Zhang C, Ling T, et al. Genome and epigenome analysis of monozygotic twins discordant for congenital heart disease. BMC Genomics. 2018 ; 19 (1) : 428
Do Identical Twins Have the Same DNA? BioTechniques. https://www.biotechniques.com/omics/not-so-identical-twins/. Published November 26, 2018. Accessed March 29, 2020.
4 Length of uncoiled human DNA. Skeptics Stack Exchange. https://skeptics.stackexchange.com/questions/10606/length-ofuncoiled-human-dna. Accessed January 26, 2020
Crew B. Here's How Many Cells in Your Body Aren't Actually Human. ScienceAlert. https://www.sciencealert.com/how-many-bacteria-cells-outnumber-human-cells-microbiome-science. Accessed January 31, 2020
Yong E. I Contain Multitudes : The Microbes Within Us and a Grander View of Life. New York : Random House ; 2016.
5 リチャード・ドーキンスの著書, 『利己的な遺伝子』Dawkins R. The Selfish Gene. Oxford, UK : Oxford University Press ; 1976.

第1部 ゲノムシークエンシングの夜明け

P.33 掲載の参考文献
2 FOXG1症候群 FOXG1 syndrome. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/foxg1-syndrome. Accessed March 29, 2020.
3 The Harvard Personal Genome Project. https://pgp.med.harvard.edu/. Accessed March 29, 2020.
4 Genomics. Energy.gov. https://www.energy.gov/science/initiatives/genomics. Accessed March 29, 2020
Watson JD, Jordan E. The Human Genome Program at the National Institutes of Health. Genomics. 1989 ; 5 (3) : 654-656.
5 Lander ES, Linton LM, Birren B, et al. Initial sequencing and analysis of the human genome. Nature. 2001 ; 409 (6822) : 860-921
Venter JC, Adams MD, Myers EW, et al. The sequence of the human genome. Science. 2001 ; 291 (5507) : 1304-1351.
6 Wang J, Wang W, Li R, et al. The diploid genome sequence of an Asian individual. Nature. 2008 ; 456 (7218) : 60-65.
7 Wheeler DA, Srinivasan M, Egholm M, et al. The complete genome of an individual by massively parallel DNA sequencing. Nature. 2008 ; 452 (7189) : 872-876.
8 Pushkarev D, Neff NF, Quake SR. Single-molecule sequencing of an individual human genome. Nat Biotechnol. 2009 ; 27 (9) : 847-850.
9 ムーアの法則 Over 50 Years of Moore's Law. Intel. https://www.intel.com/content/www/us/en/silicon-innovations/mooreslaw-technology.html. Accessed March 29, 2020
Moore's Law. Computer History Museum. https://www.computerhistory.org/revolution/digital-logic/12/267. Accessed March 29, 2020.
10 The Cost of Sequencing a Human Genome. Genome.gov. https://www.genome.gov/about-genomics/factsheets/Sequencing-Human-Genome-cost. Accessed March 29, 2020.
11 Strachan T, Read AP. Human Molecular Genetics. New York : Garland ; 2018. doi : 10.1201/9780429448362.
Platzer M. The human genome and its upcoming dynamics. Genome Dyn. 2006 ; 2 : 1-16.
12 Berg P. Fred Sanger : A memorial tribute. Proc Natl Acad Sci USA. 2014 ; 111 (3) : 883-884.
13 Heather JM, Chain B. The sequence of sequencers : The history of sequencing DNA. Genomics. 2016 ; 107 (1) : 1-8
Goodwin S, McPherson JD, McCombie WR. Coming of age : Ten years of next-generation sequencing technologies. Nat Rev Genet. 2016 ; 17 (6) : 333-351.
14 Shendure J, Porreca GJ, Reppas NB, et al. Accurate multiplex polony sequencing of an evolved bacterial genome. Science. 2005 ; 309 (5741) : 1728-1732.
Open Source Next Generation Sequencing Technology. Harvard Molecular Technologies. http://arep.med.harvard.edu/Polonator/. Accessed December 28, 2016.
Ng SB, Turner EH, Robertson PD, et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature. 2009 ; 461 (7261) : 272-276.
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A. 2009 Nov 10 ; 106 (45) : 19096-19101
15 Lander ES, Linton LM, Birren B, et al. Initial sequencing and analysis of the human genome. Nature. 2001 ; 409 (6822) : 860-921
Venter JC, Adams MD, Myers EW, et al. The sequence of the human genome. Science. 2001 ; 291 (5507) : 1304-1351
Wang J, Wang W, Li R, et al. The diploid genome sequence of an Asian individual. Nature. 2008 ; 456 (7218) : 60-65
Wheeler DA, Srinivasan M, Egholm M, et al. The complete genome of an individual by massively parallel DNA sequencing. Nature. 2008 ; 452 (7189) : 872-876
Bentley DR, Balasubramanian S, Swerdlow HP, et al. Accurate whole human genome sequencing using reversible terminator chemistry. Nature. 2008 ; 456 (7218) : 53-59
Kim J-I, Ju YS, Park H, et al. A highly annotated whole-genome sequence of a Korean individual. Nature. 2009 ; 460 (7258) : 1011-1015.
P.57 掲載の参考文献
1 PharmGKB. http://www.pharmgkb.org.
2 Stern AM. Telling Genes : The Story of Genetic Counseling in America. Baltimore : JHU Press ; 2012.
3 Kohane IS, Masys DR, Altman RB. The incidentalome : a threat to genomic medicine. JAMA. 2006 ; 296 (2) : 212-215.
4 Roguin A. Rene Theophile Hyacinthe Laennec (1781-1826) : The man behind the stethoscope. Clin Med Res. 2006 ; 4 (3) : 230-235.
5 Waller AD. A Demonstration on Man of Electromotive Changes accompanying the Heart's Beat. J Physiol. 1887 ; 8 (5) : 229-234 ; Oxford Dictionary of National Biography. Oxford, UK : Oxford University Press.
6 Royal Society Conversazione (Public Experiment on Bulldog). Hansard. http://hansard.millbanksystems.com/commons/1909/jul/08/royal-society-conversazione-public. Accessed December 30, 2016.
7 https://www.youtube.com/watch?v=-_V43QT7mrg&-feature=youtu.be&t=20s. Accessed August 8, 2020.
8 Stability of Oil Emulsions. PetroWiki. http://petrowiki.org/Stability_of_oil_emulsions.
9 Handbook of detergents Part D Formulation : Showell M. Part D : Formulation. In Handbook of Detergents. Boca Raton, FL : CRC Press ; 2016.
10 Clarke R, Peden JF, Hopewell JC, et al. Genetic variants associated with Lp (a) lipoprotein level and coronary disease. N Engl J Med. 2009 ; 361 (26) : 2518-2528.
11 NCEP ATP-III Cholesterol Guidelines. ScyMed. http://www.scymed.com/en/smnxdj/edzr/edzr9610.htm. Accessed December 30, 2016.
13 Ashley EA, Butte AJ, Wheeler MT, et al. Clinical assessment incorporating a personal genome. Lancet. 2010 ; 375 (9725) : 1525-1535
Ormond KE, Wheeler MT, Hudgins L, et al. Challenges in the clinical application of whole-genome sequencing. Lancet. 2010 ; 375 (9727) : 1749-1751
Samani NJ, Tomaszewski M, Schunkert H. The personal genome-the future of personalized medicine? Lancet. 2010 ; 375 (9725) : 1497-1498.
14 Knox R. Genome Seen As Medical Crystal Ball. NPR. https://www.npr.org/templates/story/story.php?storyId=126396839. Published April 30, 2010 Accessed April 7, 2020.
15 Marcus AD. How Genetic Testing May Spot Disease Risk. Wall Street Journal. https://www.wsj.com/articles/SB10001424052748704342604575222082732063418. Published May 4, 2010. Accessed April 7, 2020
Krieger LM. Stanford Bioengineer Explores Own Genome. Mercury News. https://www.mercurynews.com/2010/04/29/stanford-bioengineer-explores-own-genome/. Published April 29, 2010. Accessed April 7, 2020
Nainggolan L. First Clinical Interpretation of an Entire Human Genome "Exemplar." Medscape. https://www.medscape.com/viewarticle/721083. Published April 30, 2010. Accessed April 7, 2020
Fox M. Gene Scan Shows Man's Risk for Heart Attack, Cancer. Reuters. https://www.reuters.com/article/us-genes-disease-idUSTRE63S62J20100429. Published April 29, 2010. Accessed April 7, 2020
Sample I. Healthy Genome Used to Predict Disease Risk in Later Life. Guardian. http://www.theguardian.com/science/2010/apr/29/healthy-genome-predict-disease-risk. Published April 29, 2010. Accessed April 7, 2020.
P.69 掲載の参考文献
2 Ullal AJ, Abdelfattah RS, Ashley EA, Froelicher VF. Hypertrophic cardiomyopathy as a cause of sudden cardiac death in the young : A meta-analysis. Am J Med. January 2016. doi : 10.1016/j.amjmed.2015.12.027.
Harmon KG, Asif IM, Maleszewski JJ, et al. Incidence, cause, and comparative frequency of sudden cardiac death in national collegiate athletic association athletes : A decade in review. Circulation. 2015 ; 132 (1) : 10-19.
3 Dewey FE, Wheeler MT, Cordero S, et al. Molecular autopsy for sudden cardiac death using whole genome sequencing. J Am Coll Cardiol. 2011 ; 57 (14, Supplement) : E1159.
4 Conger K. The Genome Is Out of the Bag. Stanford Medicine. http://sm.stanford.edu/archive/stanmed/2010fall/article1.html. Accessed April 5, 2020.
5 Ackerman MJ, Tester DJ, Porter C-BJ, Edwards WD. Molecular diagnosis of the inherited long-QT syndrome in a woman who died after near-drowning. N Engl J Med. 1999 ; 341 (15) : 1121-1125. doi : 10.1056/nejm199910073411504.
6 Bagnall RD, Weintraub RG, Ingles J, et al. A prospective study of sudden cardiac death among children and young adults. N Engl J Med. 2016 ; 374 (25) : 2441-2452.
7 Stanford Medicine. DJ Patil, Devoted-2019 Stanford Medicine Big Data | Precision. Health mp4. https://www.youtube.com/watch?v=mK3N7xQb_mw. Published July 3, 2019. Accessed April 5, 2020.
https://twitter.com/dpatil/status/1093569468880416768
P.80 掲載の参考文献
1 Davies K. 13 Years Ago, a Beer Summit in an English Pub Led to the Birth of Solexa and-for Now at Least ? the World's Most Popular Second-Generation Sequencing Technology. Bio-IT World. http://www.bio-itworld.com/2010/issues/sept-oct/solexa.html. Accessed January 11, 2019. (https://www.bio-itworld.com/news/2010/09/30/the-solexa-story)
Davies K. The $1,000 Genome : The Scientific Breakthrough That Will Change Our Lives. New York : Free Press ; 2010.
2 John West. Personalis. https://www.personalis.com/john-west/. Published August 17, 2017. Accessed July 10, 2018.
5 Kitchens F. Lynx and Solexa Buy DNA Cluster Technology from Manteia. GenomeWeb. https://www.genomeweb.com/archive/lynx-and-solexa-buy-dna-cluster-technology-manteia. Published March 25, 2004. Accessed July 6, 2018.
6 The DNA Day interview : Jay Flatley, Executive Chairman of Illumina. Helix Blog. https://blog.helix.com/jay-flatley-interview/. Published April 25, 2018. Accessed January 12, 2019.
7 Genome AnalyzerIIx System. Illumina. https://www.illumina.com/Documents/products/specifications/specification_genome_analyzer.pdf.
8 HiSeq(TM) Sequencing Systems. Illumina. https://www.illumina.com/documents/products/datasheets/datasheet_hiseq_systems.pdf.
9 Davies K. Jay Talking Personal Genomes. Bio-IT World. http://www.bio-itworld.com/2010/issues/sept-oct/flatley.html. Published September 28, 2010. Accessed January 12, 2019.
10 Illumina Announces Its First Full Coverage DNA Sequencing of a Named Family. BusinessWire. https://www.businesswire.com/news/home/20100416006128/en/Illumina-Announces-Full-Coverage-DNA-Sequencing-Named. Published April 16, 2010. Accessed April 6, 2020. https://emea.illumina.com/company/news-center/press-releases/2010/1414034.html
P.88 掲載の参考文献
1 Marcus AD. Obsessed with Genes (Not Jeans), This Teen Analyzes Family DNA. Wall Street Journal. https://www.wsj.com/articles/SB10001424052748704814204575508064149859510. Published October 1, 2010. Accessed April 6, 2020.
2 Allan N. Who Will Tomorrow's Historians Consider Today's Greatest Inventors? Atlantic. October 2013. http://www.theatlantic.com/magazine/archive/2013/11/the-inventors/309534/. Accessed January 2, 2018.
3 Bertina RM, Koeleman BP, Koster T, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature. 1994 ; 369 (6475) : 64-67.
Minano A, Ordonez A, Espana F, et al. AB0 blood group and risk of venous or arterial thrombosis in carriers of factor V Leiden or prothrombin G20210A polymorphisms. Haematologica. 2008 ; 93 (5) : 729-734
Bauer KA. The thrombophilias : Well-defined risk factors with uncertain therapeutic implications. Ann Intern Med. 2001 ; 135 (5) : 367-373
Herrmann FH, Koesling M, Schr?der W, et al. Prevalence of factor V Leiden mutation in various populations. Genet Epidemiol. 1997 ; 14 (4) : 403-411.
P.102 掲載の参考文献
1 Trillin C. An Attempt to Compile a Short History of the Buffalo Chicken Wing. In The Tummy Trilogy. New York : Farrar, Straus & Giroux ; 1994. 268-275.
2 Pinker S. The Language Instinct : How the Mind Creates Language. London : Penguin UK ; 2003.
Rapaport W. Buffalo Buffalo Buffalo Buffalo Buffalo. University at Buffalo. https://www.cse.buffalo.edu//?rapaport/buffalobuffalo.html. Accessed December 23, 2017.
Hedrick PW. Conservation genetics and North American bison (Bison bison). J Hered. 2009 ; 100 (4) : 411-420.
3 Osoegawa K, Mammoser AG, Wu C, et al. A bacterial artificial chromosome library for sequencing the complete human genome. Genome Res. 2001 ; 11 (3) : 483-496.
4 Comai L. The advantages and disadvantages of being polyploid. Nat Rev Genet. 2005 ; 6 (11) : 836-846
Hummer KE, Nathewet P, Yanagi T. Decaploidy in Fragaria iturupensis (Rosaceae). Am J Bot. 2009 ; 96 (3) : 713-716
Cheng H, Li J, Zhang H, et al. The complete chloroplast genome sequence of strawberry (Fragaria × ananassa Duch.) and comparison with related species of Rosaceae. Peer J. 2017 ; 5 : e3919.
5 Davies K. Deanna Church on the Reference Genome Past, Present, and Future. Bio-IT World. http://www.bio-itworld.com/2013/4/22/church-on-reference-genomes-past-present-future.html. Published April 22, 2013. Accessed December 30, 2017.
6 Visscher PM, Medland SE, Ferreira MAR, et al. Assumption-free estimation of heritability from genome-wide identity-by-descent sharing between full siblings. PLOS Genet. 2006 ; 2 (3) : e41.
7 Ghahramani Z, Jordan MI. Factorial Hidden Markov Models. In Touretzky DS, Mozer MC, Hasselmo ME, eds. Advances in Neural Information Processing Systems 8. Cambridge, MA : MIT Press ; 1996 : 472-478.
Regalado A. China's BGI Says It Can Sequence a Genome for Just $100. MIT Technology Review. https://www.technologyreview.com/2020/02/26/905658/china-bgi-100-dollar-genome/. Published February 26, 2020. Accessed June 14, 2020.
8 Tewhey R, Bansal V, Torkamani A, Topol EJ, Schork NJ. The importance of phase information for human genomics. Nat Rev Genet. 2011 ; 12 (3) : 215-223.
9 Roach JC, Glusman G, Smit AFA, et al. Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science. 2010 ; 328 (5978) : 636-639
Kong A, Frigge ML, Masson G, et al. Rate of de novo mutations and the importance of father's age to disease risk. Nature. 2012 ; 488 (7412) : 471.
10 Ashley EA, Butte AJ, Wheeler MT, et al. Clinical assessment incorporating a personal genome. Lancet. 2010 ; 375 (9725) : 1525-1535.
Dewey FE, Chen R, Cordero SP, et al. Phased whole-genome genetic risk in a family quartet using a major allele reference sequence. PLOS Genet. 2011 ; 7 (9) : e1002280.
Berg JS, Khoury MJ, Evans JP. Deploying whole genome sequencing in clinical practice and public health : Meeting the challenge one bin at a time. Genet Med. 2011 ; 13 (6) : 499-504.
11 Herper M. The First Child Saved By DNA Sequencing. Forbes. January 2011. https://www.forbes.com/sites/matthewherper/2011/01/05/the-first-childsaved-by-dna-sequencing/. Accessed January 12, 2019
Johnson M, Gallagher K. A Baffling Illness. Journal Sentinel. http://archive.jsonline.com/features/health/111641209.html. Published December 18, 2010. Accessed January 12, 2019
Mark Johnson, Kathleen Gallagher, Gary Porter, Lou Saldivar and Alison Sherwood of Milwaukee Journal Sentinel. Pulitzer Prizes. https://www.pulitzer.org/winners/mark-johnson-kathleen-gallagher-gary-porter-lou-saldivar-and-alison-sherwood. Accessed January 12, 2019
Johnson M, Gallagher K. One in a Billion : The Story of Nic Volker and the Dawn of Genomic Medicine. New York : Simon & Schuster ; 2016.
12 Marcus AD. Family Pioneers in Exploration of the Genome. Wall Street Journal. https://www.wsj.com/articles/SB10001424053111904491704576573022083190718. Published September 16, 2011. Accessed July 16, 2018.
P.124 掲載の参考文献
1 Sanghvi R. 17 Quotes from Marc Andreessen & Ron Conway on How To Raise Money. Medium. https://medium.com/how-to-start-a-start-up/17-quotes-from-marc-andreessenron-conway-on-how-to-raise-money-d0b710f115f1. Published October 22, 2014. Accessed November 13, 2019.
3 Kastenmeier RW. An Act to Amend the Patent and Trademark Laws ; 1980. https://www.congress.gov/bill/96th-congress/house-bill/6933. Accessed April 20, 2020.
4 Berlin L. Troublemakers : How a Generation of Silicon Valley Upstarts Invented the Future. New York : Simon & Schuster ; 2017.
5 Concinnity. Oxford Dictionaries. https://en.oxforddictionaries.com/definition/concinnity. Accessed November 18, 2018.
6 Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009 ; 25 (14) : 1754-1760
DePristo MA, Banks E, Poplin R, et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet. 2011 ; 43 (5) : 491-498.

第2部 疾患探偵

P.139 掲載の参考文献
2 Ryder REJ, Mir MA, Freeman EA. An Aid to the MRCP Short Cases. Hoboken, NJ : John Wiley & Sons ; 2009.
3 Loyd Grossman. Wikipedia. https://en.wikipedia.org/w/index.php?title=Loyd_Grossman&oldid=946370437. Published March 19, 2020. Accessed May 2, 2020
Through the Keyhole. Wikipedia. https://en.wikipedia.org/w/index.php?title=Through_the_Keyhole&oldid=953132453. Published April 25, 2020. Accessed May 2, 2020
jflitter. The Best of Through the Keyhole (Yorkshire Television) DAMAGED TAPE-August 1988. https://www.youtube.com/watch?v=WhIzhVBQOUY. Published March 23, 2018. Accessed May 2, 2020
Stecklow S. The Wall Street Journal on Americans Adopting British Accents. Guardian. http://www.theguardian.com/world/2003/oct/04/usa.theeditorpressreview. Published October 4, 2003. Accessed May 2, 2020.
4 Doyle AC. The Complete Sherlock Holmes : All 56 Stories & 4 Novels. New Delhi : General Press ; 2016.
5 Reed J. A medical perspective on the adventures of Sherlock Holmes. Med Humanit. 2001 ; 27 (2) : 76-81
Key JD, Rodin AE. Medical reputation and literary creation : an essay on Arthur Conan Doyle versus Sherlock Holmes 1887-1987. Adler Mus Bull. 1987 ; 13 (2) : 21-25.
6 Oxford Dictionary of National Biography. Oxford, UK : Oxford University Press.
Bell J. A manual of the operations of surgery. Internet Archive. https://archive.org/details/amanualoperatio-04bellgoog/page/n7/mode/2up. Accessed May 2, 2020.
7 Reed J. A medical perspective on the adventures of Sherlock Holmes. Med Humanit. 2001 ; 27 (2) : 76-81.
8 Mastermind : How to Think Like Sherlock Holmes. New York : Penguin ; 2013
Anderson DR. The evolution of Peirce's concept of abduction. Transactions of the Charles S. Peirce Society. 1986 ; 22 (2) : 145-164
Burks AW. Peirce's theory of abduction. Philos Sci. 1946 ; 13 (4) : 301-306.
9 Innes M. Investigating Murder : Detective Work and the Police Response to Criminal Homicide. Oxford, UK : Oxford University Press ; 2003.
10 Haddon M. The Curious Incident of the Dog in the Night-Time. Washington, D.C. : National Geographic Books ; 2007.
Haddon M, Stephens S. The Curious Incident of the Dog in the Night-Time. doi : 10.5040/9781408173381.00000006.
11 Bijland LR, Bomers MK, Smulders YM. Smelling the diagnosis : A review on the use of scent in diagnosing disease. Neth J Med. 2013 ; 71 (6) : 300-307.
12 House (TV series). Wikipedia. https://en.wikipedia.org/w/index.php?title=House_(TV_series)&oldid=954022056. Published April 30, 2020. Accessed May 2, 2020. https://paperpile.com/c/zm9uRu/nwdb.
14 Stanbury JB. The Metabolic Basis of Inherited Disease. New York : McGraw-Hill ; 1972.
16 Craine A. Elias Zerhouni. Encyclopadia Britannica. https://www.britannica.com/biography/Elias-Zerhouni. Accessed May 2, 2020.
17 Homer. The Odyssey. London : Penguin UK ; 2003.
Merrill R. The Rhythm of the Epic. http://www.home.earthlink.net/?merrill_odyssey/id5.html. Accessed December 28, 2018.
18 Google Books Ngram Viewer. https://books.google.com/ngrams.
P.156 掲載の参考文献
1 Mnookin S. One of a Kind. New Yorker. 2014 ; 21 : 32-38
Weintraub K. A Battle Plan for a War on Rare Diseases. New York Times. https://www.nytimes.com/2018/09/10/health/matthew-might-rare-diseases.html. Published September 10, 2018. Accessed May 3, 2020
The Might of the Mights : Parents Overcome Genetics to Save Son-Rare Genomics Institute. Rare Genomics Institute. https://www.raregenomics.org/blog/2016/4/10/the-might-ofthe-mights-parents-overcome-genetics-to-save-son. Published April 10, 2016. Accessed May 3, 2020.
3 Need AC, Shashi V, Hitomi Y, et al. Clinical application of exome sequencing in undiagnosed genetic conditions. J Med Genet. 2012 ; 49 : 353-361.
5 Besson L. Taken. Los Angeles : 20th Century Fox ; 2009.
Might M. Hunting down my son's killer. http://matt.might.net/articles/my-sons-killer/. Retrieved July 2015.
6 Hawk S. With Grace. Stanford Graduate School of Business. https://www.gsb.stanford.edu/insights/grace. Published October 18, 2019. Accessed May 3, 2020.
7 Longtime Stanford Leader, Donor John Freidenrich Dies. Stanford News. https://news.stanford.edu/2017/10/18/leader-donor-john-freidenrich-dies/. Published October 18, 2017. Accessed May 3, 2020.
10 Caglayan AO, Comu S, Baranoski JF, et al. NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy. Eur J Med Genet. 2015 ; 58 (1) : 39-43.
P.167 掲載の参考文献
1 Enns GM, Shashi V, Bainbridge M, et al. Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Genet Med. 2014 ; 16 (10) : 1-8.
Might M, Wilsey M. The shifting model in clinical diagnostics : How next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated. Genet Med. 2014 ; 16 (10) : 1-2.
2 Owings KG, Lowry JB, Bi Y, Might M, Chow CY. Transcriptome and functional analysis in a Drosophila model of NGLY1 deficiency provides insight into therapeutic approaches. Hum Mol Genet. 2018 ; 27 (6) : 1 055-1066.
3 Edwards RG, Steptoe PC, Purdy JM. Fertilization and cleavage in vitro of preovulatory human oocytes. Nature. 1970 ; 227 : 1307.
4 Friedrich BM, Julicher F. The stochastic dance of circling sperm cells : Sperm chemotaxis in the plane. New J Phys. 2008 ; 10 (12) : 123025
Kaupp UB. 100 years of sperm chemotaxis. J Cell Biol. 2012 ; 199 (6) : i9-i9
Friedrich BM, Julicher F. Chemotaxis of sperm cells. Proc Natl Acad Sci USA. 2007 ; 104 (33) : 13256-13261.
6 Handyside AH. Preimplantation genetic diagnosis after 20 years. Reprod Biomed Online. 2010 ; 21 (3) : 280-282.
7 Grace Science Foundation. https://gracescience.org/. Accessed May 3, 2020.
8 Tomlin FM, Gerling-Driessen UIM, Liu Y-C, et al. Inhibition of NGLY1 inactivates the transcription factor Nrf1 and potentiates proteasome inhibitor cytotoxicity. ACS Cent Sci. 2017 ; 3 (11) : 1143-1155.
9 Suzuki T, Kwofie MA, Lennarz WJ. Ngly1, a mouse gene encoding a deglycosylating enzyme implicated in proteasomal degradation : Expression, genomic organization, and chromosomal mapping. Biochem Biophys Res Commun. 2003 ; 304 (2) : 326-332.
10 Huang C, Harada Y, Hosomi A, et al. Endo-β-N-acetylglucosaminidase forms N-GlcNAc protein aggregates during ER-associated degradation in Ngly1-defective cells. Proc Natl Acad Sci USA. 2015 ; 112 (5) : 1398-1403.
11 Bi Y, Might M, Vankayalapati H, Kuberan B. Repurposing of proton pump inhibitors as first identified small molecule inhibitors of endo-β-N-acetylglucosaminidase (ENGase) for the treatment of NGLY1 deficiency, a rare genetic disease. Bioorg Med Chem Lett. 2017 ; 27 (13) : 2962-2966.
12 Tambe MA, Ng BG, Freeze HH. N-Glycanase 1 transcriptionally regulates aquaporins independent of its enzymatic activity. Cell Rep. 2019 ; 29 (13) : 4620-4631.e4.
P.190 掲載の参考文献
1 Gahl WA, Wise AL, Ashley EA. The Undiagnosed Diseases Network of the National Institutes of Health : A national extension. JAMA. 2015 ; 314 (17) : 1797-1798
Ramoni RB, Mulvihill JJ, Adams DR, et al. The Undiagnosed Diseases Network : Accelerating discovery about health and disease. Am J Hum Genet. 2017 ; 100 (2) : 185-192.
Splinter K, Adams DR, Bacino CA, et al. Effect of genetic diagnosis on patients with previously undiagnosed disease. N Engl J Med. 2018 ; 379 (22) : 2131-2139.
3 Heimer G, Keratar JM, Riley LG, et al. MECR mutations cause childhood-onset dystonia and optic atrophy, a mitochondrial fatty acid synthesis disorder. Am J Hum Genet. 2016 ; 99 (6) : 1229-1244.
4 The Last Hope for Families Coping with Rare Diseases. NPR. https://www.npr.org/sections/healthshots/2018/12/17/673066806/medical-detectives-the-last-hope-for-families-coping-with-rare-diseases. Published December 17, 2018. Accessed May 16, 2020
"Doctor Detectives" Help Diagnose Mysterious Illnesses with DNA Analysis. CBS News. https://www.cbsnews.com/news/undiagnosed-diseases-network-dna-helps-miller-family-diagnose-mepan-syndrome/. Published October 11, 2018. Accessed May 16, 2020.
5 MEPAN Founcation. https://www.mepan.org/.
6 Matchmaker Exchange. https://www.matchmakerexchange.org/.
7 Palladini G, Merlini G. The elusive pathogenesis of Schnitzler syndrome. Blood. 2018 ; 131 (9) : 944-946.
8 Spade PV, Panaccio C. William of Ockham. In Zalta EN, ed. The Stanford Encyclopedia of Philosophy. Winter 2016. Stanford, CA : Stanford University ; 2016. https://plato.stanford.edu/archives/win2016/entries/ockham/.
10 When You Hear Hoofbeats Look for Horses Not Zebras. Quote Investigator. https://quoteinvestigator.com/2017/11/26/zebras/. Accessed December 14, 2017.
11 Flash Facts About Lightning. National Geographic. June 2005. https://news.nationalgeographic.com/news/2004/06/flash-facts-about-lightning/. Accessed January 4, 2019.
https://www.nationalgeographic.com/science/article/flash-facts-about-lightning
Yan H. We're Not Saying You Shouldn't Play, But Here Are 5 Things More Likely To Happen Than You Winning the Lottery. CNN. October 2018. https://www.cnn.com/2018/10/23/us/lottery-winning-odds-trnd/index.html. Accessed January 4, 2019.
Digitale E, Ford A, Hite E. Stanford Team Helps Patient Who Is "Unique in the World." Scope. https://scopeblog.stanford.edu/2016/12/14/stanford-teamhelps-patient-who-is-unique-in-the-world/. Published December 14, 2016. Accessed January 4, 2019.
Zastrow DB, Zornio PA, Dries A, et al. Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype. Cold Spring Harb Mol Case Stud. 2017 ; 3 (1) : a001388.
12 Olahova M, Yoon WH, Thompson K, et al. Biallelic mutations in ATP5F1D, which encodes a subunit of ATP synthase, cause a metabolic disorder. Am J Hum Genet. 2018 ; 102 (3) : 494-504.
OMIM Entry-# 618120 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 5 ; MC5DN5 OMIM. https://www.omim.org/entry/618120. Accessed January 8, 2019.
Allday E. "Disease Detectives" Crack Cases of 130 Patients with Mysterious Illnesses. San Francisco Chronicle. https://www.sfchronicle.com/health/article/Disease-detectives-crack-cases-of-130-13297547.php. Published October 11, 2018. Accessed January 8, 2019.
13 Kolata G. When the Illness Is a Mystery, Patients Turn to These Detectives. New York Times. https://www.nytimes.com/2019/01/07/health/patients-medical-mysteries.html. Published January 7, 2019. Accessed May 16, 2020.

第3部 ゲノムと心臓

P.207 掲載の参考文献
1 Meissner FL. Taubstummheit, Ohr-u. gehorkrankheiten : Bd. 1. Taubstummheit u. Taubstummenbildung. C. F. Winter'sche Verlagshandlung, Leipzig & Heidelberg Winter ; 1856.
2 Jervell A, Lange-Nielsen F. Congenital deaf-mutism, functional heart disease with prolongation of the QT interval, and sudden death. Am Heart J. 1957. http://www.sciencedirect.com/science/article/pii/0002870357900790
Tranebjaerg L, Bathen J, Tyson J, Bitner-Glindzicz M. Jervell and Lange-Nielsen syndrome : A Norwegian perspective. Am J Med Genet. 1999 ; 89 (3) : 137-146.
Evensmo J. The Altosaxes of Swing in Norway. http://www.jazzarcheology.com/artists/swing_in_norway.pdf. Updated October 6, 2011.
3 Hodkinson EC, Hill AP, Vandenberg JI. The Romano-Ward syndrome-1964-2014 : 50 years of progress. Ir Med J. 2014 ; 107 (4) : 122-124.
Hunter N. A Medical Stalwart Now in Happy Exile. http://www.irishhealth.com/article.html?id=18437. Accessed April 4, 2017.
4 Dessertenne F, et al. La tachycardie ventriculaire a deux foyers opposes variables. Arch Mal Coeur Vaiss. 1966 ; 59 (2) : 263-272.
Mullins ME. Mon bete noir (my pet peeve). J Med Toxicol. 2011 ; 7 (2) : 181.
6 Saunders CJ, Miller NA, Soden SE, et al. Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. Sci Transl Med. 2012 ; 4 (154) : 154ra135-ra154ra135.
7 Kyla Dunn. IMDb. https://www.imdb.com/name/nm1871408/. Accessed January 9, 2019.
Gibbs CS, Coutre SE, Tsiang M, et al. Conversion of thrombin into an anticoagulant by protein engineering. Nature. 1995 ; 378 (6555) : 413-416.
Weiss R. Mutant monikers. Sci News. 1991 ; 139 (2) : 30-31.
9 Priori SG, Wilde AA, Horie M, et al. HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes : Document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013. Heart Rhythm. 2013 ; 10 (12) : 1932-1963
Schwartz PJ, Priori SG, Locati EH, et al. Long QT syndrome patients with mutations of the SCN5A and HERG genes have differential responses to Na+ channel blockade and to increases in heart rate. Implications for gene-specific therapy. Circulation. 1995 ; 92 (12) : 3381-3386
Mazzanti A, Maragna R, Faragli A, et al. Gene-specific therapy with mexiletine reduces arrhythmic events in patients with long QT syndrome type 3. J Am Coll Cardiol. 2016 ; 67 (9) : 1053-1058.
P.225 掲載の参考文献
1 Ma Z, Ferreira L, Mesbah M, Zhu S. Modeling distributions of travel time variability for bus operations. J Adv Transp. 2016 ; 50 (1) : 6-24.
Verbich D, Diab E, El-Geneidy A. Have they bunched yet? An exploratory study of the impacts of bus bunching on dwell and running times. Public Transp. 2016 ; 8 (2) : 225-242.
2 Schmidt HG, Norman GR, Boshuizen HP. A cognitive perspective on medical expertise : theory and implication [published erratum appears in Acad Med 1992 Apr ; 67 (4) : 287]. Acad Med. 1990 ; 65 (10) : 611-621.
Ashley EA. Medical education-beyond tomorrow-The new doctor-Asclepiad or Logiatros? Med Educ. 2000 ; 34 (6) : 455-459.
4 Thibodeau IL, Xu J, Li Q, et al. Paradigm of genetic mosaicism and lone atrial fibrillation : Physiological characterization of a connexin 43-deletion mutant identified from atrial tissue. Circulation. 2010 ; 122 (3) : 236-244
Gollob MH, Jones DL, Krahn AD, et al. Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation. N Engl J Med. 2006 ; 354 (25) : 2677-2688.
Roberts JD, Longoria J, Poon A, et al. Targeted deep sequencing reveals no definitive evidence for somatic mosaicism in atrial fibrillation. Circ Cardiovasc Genet. 2015 ; 8 (1) : 50-57.
Chen L, Liu P, Evans TC, Ettwiller LM. DNA damage is a major cause of sequencing errors, directly confounding variant identification. bioRxiv. 2016. http://www.biorxiv.org/content/early/2016/08/19/070334.abstract.
6 Biesecker LG, Spinner NB. A genomic view of mosaicism and human disease. Nat Rev Genet. 2013 ; 14 (5) : 307-320.
Poduri A, Evrony GD, Cai X, Walsh CA. Somatic mutation, genomic variation, and neurological disease. Science. 2013 ; 341 (6141) : 1237758
Lupski JR. Genetics. Genome mosaicism-one human, multiple genomes. Science. 2013 ; 341 (6144) : 358-359
Forsberg LA, Gisselsson D, Dumanski JP. Mosaicism in health and disease-clones picking up speed. Nat Rev Genet. 2017 ; 18 (2) : 128-142.
7 Jaiswal S, Fontanillas P, Flannick J, et al. Age-related clonal hematopoiesis associated with adverse outcomes. N Engl J Med. 2014 ; 371 (26) : 2488-2498
Fuster JJ, Walsh K. Somatic mutations and clonal hematopoiesis : Unexpected potential new drivers of age-related cardiovascular disease. Circ Res. 2018 ; 122 (3) : 523-532
Jaiswal S, Natarajan P, Silver AJ, et al. Clonal hematopoiesis and risk of atherosclerotic cardiovascular disease. N Engl J Med. 2017 ; 377 (2) : 111-121.
8 Zimmer C. DNA Double Take. New York Times. https://www.nytimes.com/2013/09/17/science/dna-double-take.html. Published September 16, 2013. Accessed December 15, 2017.
O'Huallachain M, Karczewski KJ, Weissman SM, Urban AE, Snyder MP. Extensive genetic variation in somatic human tissues. Proc Natl Acad Sci USA. 2012 ; 109 (44) : 18018-18023.
Zimmer C. She Has Her Mother's Laugh : The Powers, Perversions, and Potential of Heredity. New York : Penguin ; 2018.
9 Lupski JR, Reid JG, Gonzaga-Jauregui C, et al. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med. 2010 ; 362 (13) : 1181-1191.
Lupski JR. Genetics. Genome mosaicism ? one human, multiple genomes. Science. 2013 ; 341 (6144) : 358-359.
10 Natalia Trayanova on Developing Computer Simulations of Hearts. Johns Hopkins Medicine. https://www.hopkinsmedicine.org/research/advancements-in-research/fundamentals/profiles/natalia-trayanova. Accessed December 15, 2017.
Ingalls BP. Mathematical Modeling in Systems Biology : An Introduction. Cambridge, MA : MIT Press ; 2013.
P.255 掲載の参考文献
1 Kate O'Hanlan, MD. World's Largest Tumor. https://www.youtube.com/watch?v=wwiN_TbpqMA. Published May 27, 2012. Accessed May 17, 2020.
2 Young WF, Carney JA, Musa BU, Wulffraat NM, Lens JW, Drexhage HA. Familial Cushing's syndrome due to primary pigmented nodular adrenocortical disease. N Engl J Med. 1989 ; 321 (24) : 1659-1664.
3 Dy BM, Lee GS, Richards ML. J. Aidan Carney. In Pasieka JL, Lee JA, eds. Surgical Endocrinopathies. Boston : Springer ; 2015 : 229-231.
Carney JA. Discovery of the Carney complex, a familial lentiginosis-multiple endocrine neoplasia syndrome : A medical odyssey. Endocrinologist. 2003 ; 13 (1) : 23.
4 Botstein D. Using the genetic linkage map of the human genome to understand complex inherited diseases. J Nerv Ment Dis. 1989 ; 177 (10) : 644. doi : 10.1097/00005053-198910000-00012
Botstein D, White RL, Skolnick M, Davis RW. Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am J Hum Genet. 1980 ; 32 (3) : 314-331.
5 Correa R, Salpea P, Stratakis CA. Carney complex : An update. Eur J Endocrinol. 2015 ; 173 (4) : M85-M97
Stratakis CA, Kirschner LS, Carney JA. Clinical and molecular features of the Carney complex : Diagnostic criteria and recommendations for patient evaluation. J Clin Endocrinol Metab. 2001 ; 86 (9) : 4041-4046
Kirschner LS, Carney JA, Pack SD, et al. Mutations of the gene encoding the protein kinase A type I- α regulatory subunit in patients with the Carney complex. Nat Genet. 2000 ; 26 (1).
6 Rostomyan L, Daly AF, Petrossians P, et al. Clinical and genetic characterization of pituitary gigantism : An international collaborative study in 208 patients. Endocr Relat Cancer. 2015 ; 22 (5) : 745-757.
8 Schaefer J. A Few Minutes with... a Father with a Full Heart. Detroit Free Press. https://www.freep.com/story/news/columnists/jim-schaefer/2016/07/16/chester-szuber-heart-transplant/87098726/. Published July 17, 2016. Accessed December 13, 2017
Father Receives Heart Transplant from Daughter. New York Times. http://www.nytimes.com/1994/08/26/us/father-receives-heart-transplant-from-daughter.html. Published August 26, 1994. Accessed December 13, 2017.
OPTN Information Regarding Deceased Directed Donation. OPTN. https://optn.transplant.hrsa.gov/news/optn-information-regarding-deceased-directed-donation/. Accessed December 14, 2017.
Gayomali C. Apple CEO Tim Cook Tried to Give Steve Jobs His Liver-But Jobs Refused. Fast Company. https://www.fastcompany.com/3043628/apple-ceo-tim-cook-tried-to-give-steve-jobs-his-liver-but-jobs-refused. Published March 12, 2015. Accessed December 14, 2017.
10 MacKenzie RJ. A SMRTer Way to Sequence DNA? Genomics Research from Technology Networks. https://www.technologynetworks.com/genomics/articles/a-smrter-way-to-sequence-dna-309952. Published September 25, 2018. Accessed May 17, 2020.
11 Merker JD, Wenger AM, Sneddon T, et al. Long-read genome sequencing identifies causal structural variation in a Mendelian disease. Genet Med. June 2017. doi : 10.1038/gim.2017.86.
P.285 掲載の参考文献
2 Hales CM, Carroll MD, Fryar CD, Ogden CL. Prevalence of Obesity Among Adults and Youth : United States, 2015-2016. NCHS Data Brief. 2017 ; (288) : 1-8.
3 Duffin J. To See with a Better Eye : A Life of R. T. H. Laennec. Princeton, NJ : Princeton University Press ; 2014.
4 McKenna WJ, Sen-Chowdhry S. From Teare to the present day : A fifty year odyssey in hypertrophic cardiomyopathy, a paradigm for the logic of the discovery process. Rev Esp Cardiol. 2008 ; 61 (12) : 1239-1244
Adelman H, Adelman A. The logic of discovery a case study of hypertrophic cardiomyopathy. Acta Biotheor. 1977 ; 26 (1) : 39-58
Mirchandani S, Phoon CKL. Sudden cardiac death : A 2400-year-old diagnosis? Int J Cardiol. 2003 ; 90 (1) : 41-48. Also, Coats and Hollman Heart (http://dx.doi.org/10.1136/hrt.2008.153452)
5 Watkins H, Ashrafian H, McKenna WJ. The genetics of hypertrophic cardiomyopathy : Teare redux. Heart. 2008 ; 94 (10) : 1264-1268.285
6 Silverman ME, Somerville W. To die in one's prime : The story of Paul Wood. Am J Cardiol. 2000 ; 85 (1) : 75-88
Camm J. The contributions of Paul Wood to clinical cardiology. Heart Lung Circ. 2003 ; 12 Suppl 1 : S10-S14.
8 Goodwin JF, Hollman A, Cleland WP, Teare D. Obstructive cardiomyopathy simulating aortic stenosis. Br Heart J 1960 ; 22 : 403-14
Russell Brock : Brock R, Fleming PR. Aortic subvalvar stenosis ; a report of 5 cases diagnosed during life. Guys Hosp Rep. 1956 ; 105 [4] : 391-408
Braunwald E. Hypertrophic cardiomyopathy : The first century 1869-1969. Glob Cardiol Sci Pract. 2012 ; 2012 (1) : 5.
Maron BJ, Braunwald E. Eugene Braunwald, MD and the early years of hypertrophic cardiomyopathy : A conversation with Dr. Barry J. Maron. Am J Cardiol. March 2012. doi : 10.1016/j.amjcard.2012.01.376
Maron BJ, Roberts WC. The father of septal myectomy for obstructive HCM, who also had HCM : The unbelievable story. J Am Coll Cardiol. 2016 ; 67 (24) : 2900-2903.
9 Maron BJ, Braunwald E. Eugene Braunwald, MD and the early years of hypertrophic cardiomyopathy : A conversation with Dr. Barry J. Maron. Am J Cardiol. March 2012. doi : 10.1016/j.amjcard.2012.01.376.
10 Spirito P, Seidman CE, McKenna WJ, Maron BJ. The management of hypertrophic cardiomyopathy. N Engl J Med. 1997 ; 336 (11) : 775-785
Maron BJ, McKenna WJ, Danielson GK, et al. American College of Cardiology/European Society of Cardiology Clinical Expert Consensus Document on Hypertrophic Cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines. Eur Heart J. 2003 ; 24 (21) : 1965-1991.
12 Gluck MA, Mercado E, Myers CE. Learning and Memory : From Brain to Behavior. New York : Macmillan Higher Education ; 2007.
14 Hippocrates, Coar T. The Aphorisms of Hippocrates : with a Translation into Latin and English. Omaha, NE : Classics of Medicine Library ; 1982.
Driscol TE, Ratnoff OD, Nygaard OF. The remarkable Dr. Abildgaard and countershock. The bicentennial of his electrical experiments on animals. Ann Intern Med. 1975 ; 83 (6) : 878-882
Abildgaard PC. Tentamina electrica in animalibus instituta. Societatis Medicae Havniensis Collectanea. 1775 ; 2 : 157.
15 Memoirs of Benjamin Franklin, volume 2, page 328, letter to Messrs Dubourg and d'Alibard concerning the mode of rendering meat tender by electricity285
16 Akselrod H, Kroll MW, Orlov MV. History of Defibrillation. In Efimov IR, Kroll MW, Tchou PJ, eds. Cardiac Bioelectric Therapy. Boston : Springer ; 2009 : 15-40.
17 Akselrod H, Kroll MW, Orlov MV. History of Defibrillation. In Efimov IR, Kroll MW, Tchou PJ, eds. Cardiac Bioelectric Therapy. Boston : Springer ; 2009 : 15-40.
18 The First Defibrillator? The Work of James Curry. RCP London. https://www.rcplondon.ac.uk/news/first-defibrillator-work-james-curry. Published May 19, 2017. Accessed January 14, 2018.
19 Hurt R. Modern cardiopulmonary resuscitation-not so new after all. J R Soc Med. 2005 ; 98 (7) : 327-331
Cakulev I, Efimov IR, Waldo AL. Cardioversion : Past, present, and future. Circulation. 2009 ; 120 (16) : 1623-1632.
An Essay on the Recovery of the Apparently Dead : Kite, Charles, 1768-1811. Internet Archive. https://archive.org/details/b21510829. Accessed January 14, 2018.
20 Holt GE, Sarmento B, Kett D, Goodman KW. An unconscious patient with a DNR tattoo. N Engl J Med. 2017 ; 377 (22) : 2192-2193.
21 Beck CS, Pritchard WH, Feil HS. Ventricular fibrillation of long duration abolished by electric shock. J Am Med Assoc. 1947 ; 135 (15) : 985.
22 https://www.youtube.com/watch?v=iXcsHoQMGqc.
Horton A. A Woman Had A Seizure at Ken Jeong's Comedy Show. The Former Doctor Jumped Offstage to Save Her. Washington Post. https://www.washingtonpost.com/news/arts-and-entertainment/wp/2018/05/07/a-woman-had-a-seizure-at-ken-jeongs-comedy-showthe-former-doctor-jumped-offstage-to-save-her/. Published May 7, 2018. Accessed May 7, 2018.
23 Valenzuela TD, Roe DJ, Nichol G, Clark LL, Spaite DW, Hardman RG. Outcomes of rapid defibrillation by security officers after cardiac arrest in casinos. N Engl J Med. 2000 ; 343 (17) : 1206-1209.
24 Mirowski M, Reid PR, Mower MM, et al. Termination of malignant ventricular arrhythmias with an implanted automatic defibrillator in human beings. N Engl J Med. 1980 ; 303 (6) : 322-324.
26 Hugo Campos. Soccer Player Anthony Van Loo Survives a Sudden Cardiac Arrest (SCA) When His ICD Fires. (ANNOTATED). https://www.youtube.com/watch?v=DU_i0ZzIV5U. Published June 12, 2009. Accessed December 7, 2017.
https://www.youtube.com/watch?v=MtHZ6ItHiTc
27 Pare JAP, Fraser RG, Pirozynski WJ, Shanks JA, Stubington D. Hereditary cardiovascular dysplasia : A form of familial cardiomyopathy. Am J Med. 1961 ; 31 (1) : 37-62.
28 Jarcho JA, McKenna W, Pare JA, et al. Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1. N Engl J Med. 1989 ; 321 (20) : 1372-1378
Tanigawa G, Jarcho JA, Kass S, et al. A molecular basis for familial hypertrophic cardiomyopathy : An alpha/beta cardiac myosin heavy chain hybrid gene. Cell. 1990 ; 62 (5) : 991-998
Geisterfer-Lowrance A a., Kass S, Tanigawa G, et al. A molecular basis for familial hypertrophic cardiomyopathy : A beta cardiac myosin heavy chain gene missense mutation. Cell. 1990 ; 62 (5) : 999-1006.
29 Watkins H, Rosenzweig A, Hwang DS, et al. Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J Med. 1992 ; 326 (17) : 1108-1114
Watkins H, McKenna WJ, Thierfelder L, et al. Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. N Engl J Med. 1995 ; 332 (16) : 1058-1064
Niimura H, Bachinski LL, Sangwatanaroj S, et al. Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. N Engl J Med. 1998 ; 338 (18) : 1248-1257.
P.313 掲載の参考文献
1 Capuzzo M, Volta C, Tassinati T, et al. Hospital mortality of adults admitted to Intensive Care Units in hospitals with and without Intermediate Care Units : A multicentre European cohort study. Crit Care. 2014 ; 18 (5) : 551.
2 Konhilas JP, Watson PA, Maass A, et al. Exercise can prevent and reverse the severity of hypertrophic cardiomyopathy. Circ Res. 2006 ; 98 (4) : 540-548.
Saberi S, Wheeler M, Bragg-Gresham J, et al. Effect of moderate-intensity exercise training on peak oxygen consumption in patients with hypertrophic cardiomyopathy : A randomized clinical trial. JAMA. 2017 ; 317 (13) : 1349-1357.
3 Secor SM, Diamond J. Effects of meal size on postprandial responses in juvenile Burmese pythons (Python molurus). Am J Physiol. 1997 ; 272 (3 Pt 2) : R902-R912
Andersen JB, Rourke BC, Caiozzo VJ, Bennett AF, Hicks JW. Physiology : Postprandial cardiac hypertrophy in pythons. Nature. 2005 ; 434 (7029) : 37-38
Riquelme C a., Magida J a., Harrison BC, et al. Fatty acids identified in the Burmese python promote beneficial cardiac growth. Science. 2011 ; 334 (6055) : 528-531.
4 iBiology. James Spudich (Stanford) 4 : Myosin mutations and hypertrophic cardiomyopathy. https://www.youtube.com/watch?v=-zqUUo_qmTM. Posted November 1, 2017.
Nag S, Trivedi DV, Sarkar SS, et al. The myosin mesa and the basis of hypercontractility caused by hypertrophic cardiomyopathy mutations. Nat Struct Mol Biol. 2017 ; 24 (6) : 525-533
Spudich JA. The myosin mesa and a possible unifying hypothesis for the molecular basis of human hypertrophic cardiomyopathy. Biochem Soc Trans. 2015 ; 43 : 64-72
Trivedi DV, Adhikari AS, Sarkar SS, Ruppel KM, Spudich JA. Hypertrophic cardiomyopathy and the myosin mesa : Viewing an old disease in a new light. Biophys Rev. 2018 ; 10 (1) : 27-48.
Homburger JR, Green EM, Caleshu C, et al. Multidimensional structure-function relationships in human β -cardiac myosin from population-scale genetic variation. Proc Natl Acad Sci USA. 2016 ; 113 (24) : 6701-6706.
5 https://www.youtube.com/watch?v=2rd8VktT8xY

第4部 精密な医療

P.337 掲載の参考文献
1 La DE, de la Chapelle A, Traskelin a. L, Juvonen E. Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis. Proc Natl Acad Sci USA. 1993 ; 90 (10) : 4495-4499
de la Chapelle A, Sistonen P, Lehvaslaiho H, Ikkala E, Juvonen E. Familial erythrocytosis genetically linked to erythropoietin receptor gene. Lancet. 1993 ; 341 (8837) : 82-84
Juvonen E, Ikkala E, Fyhrquist F, Ruutu T. Autosomal dominant erythrocytosis caused by increased sensitivity to erythropoietin. Blood. 1991 ; 78 (11) : 3066-3069.
2 Epstein DJ. The Sports Gene : Inside the Science of Extraordinary Athletic Performance. New York : Penguin ; 2014.
3 Superhero Genes : What Sets the World's Most Elite Athletes Apart? California Sunday Magazine. https://story.californiasunday.com/superhero-gene-euan-ashley-stanford. Published August 4, 2016. Accessed August 25, 2019.
Wilner J. Can Superhuman Athletes Provide Genetic Clues on Heart Health? Mercury News. https://www.mercurynews.com/2017/10/29/4851089/. Published October 29, 2017. Accessed August 25, 2019.
5 Gazal S, Espinoza JR, Austerlitz F, et al. The genetic architecture of chronic mountain sickness in Peru. Front Genet. 2019 ; 10 : 690.
6 Yaku K, Okabe K, Nakagawa T. NAD metabolism : Implications in aging and longevity. Ageing Res Rev. 2018 ; 47 : 1-17.
7 Hall SS. Genetics : A gene of rare effect. Nature. 2013 ; 496 (7444) : 152-155.
8 Abifadel M, Varret M, Rabes J-P, et al. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nature Genetics. 2003 ; 34 (2) : 154-156. doi : 10.1038/ng1161
Varret M, Rabes J-P Saint-Jore B, et al. A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32. Am J Hum Genet. 1999 ; 64 (5) : 1378-1387.
9 Cohen J, Pertsemlidis A, Kotowski IK, Graham R, Garcia CK, Hobbs HH. Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9. Nat Genet. 2005 ; 37 (2) : 161-165
Zhao Z, Tuakli-Wosornu Y, Lagace TA, et al. Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote. Am J Hum Genet. 2006 ; 79 (3) : 514-523
Cohen JC, Boerwinkle E, Mosley TH Jr, Hobbs HH. Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. N Engl J Med. 2006 ; 354 (12) : 1264-1272.
A Conversation with Helen Hobbs. Journal of Clinical Investigation. https://www.jci.org/articles/view/84086. Published October 1, 2015.
11 Plenge RM, Scolnick EM, Altshuler D. Validating therapeutic targets through human genetics. Nat Rev Drug Discov. 2013 ; 12 (8) : 581-594.
12 Voight BF, Peloso GM, Orho-Melander M, et al. Plasma HDL cholesterol and risk of myocardial infarction : A mendelian randomisation study. Lancet. 2012 ; 380 (9841) : 572-580.
13 Cox D. The curse of the people who never feel pain. BBC. http://www.bbc.com/future/story/20170426-the-people-who-never-feel-any-pain. Accessed August 26, 2019.
14 Xu H, Li T, Rohou A, et al. Structural basis of Nav1.7 inhibition by a gating-modifier spider toxin. Cell. 2019 ; 176 (4) : 702-715.e14.
P.368 掲載の参考文献
1 Dishman E. Health Care Should Be a Team Sport. https://www.ted.com/talks/eric_dishman_health_care_should_be_a_team_sport?language=en. Accessed June 7, 2020.
Stanford Medicine. Eric Dishman, NIH-Stanford Medicine Big Data Precision Health 2018. https://www.youtube.com/watch?v=P4qjP4VVp_c. Published June 21, 2018. Accessed June 7, 2020.
2 The Life and Times of an American Business Icon. New York : Penguin ; 2007
Rivett-Carnac M. The True Story of Andrew Grove, Time's 1997 Man of the Year. Time. March 2016. https://time.com/4267150/andrew-grove-intel-survivor-biography-budapest/. Accessed June 7, 2020
Andrew Grove : A Survivor's Tale. Time. http://content.time.com/time/magazine/article/0,9171,987588,00.html. Accessed June 7, 2020
Kandell J. Andrew S. Grove Dies at 79 ; Intel Chief Spurred Semiconductor Revolution. New York Times. https://www.nytimes.com/2016/03/22/technology/andrew-grove-intel-obituary.html. Published March 22, 2016. Accessed June 7, 2020.
3 Joan Bailey-Wilson, NHGRI ; Greg Burke, Wake Forest ; Chris Hook, Mayo Clinic ; Rod Howell, NICHD ; Jean MacCluer, Southwest Foundation ; Don Mattison, NICHD ; Jeff Murray, University of Iowa ; Larry Needham, CDC ; Anne Spence, UC-Irvine ; Alec Wilson, NHGRI ; Sam Wilson, NIEHS.
4 Bell J. The new genetics in clinical practice. BMJ. 1998 ; 316 (7131) : 618-620.
Fears R, Poste G. Policy forum : Health care delivery. Building populations genetics resources using the U.K. NHS. Science. 1999 ; 284 (5412) : 267-268.
5 Collins FS. The case for a US prospective cohort study of genes and environment. Nature. 2004 ; 429 (6990) : 475-477.
7 Obama B. Dreams from My Father : A Story of Race and Inheritance. Edinburgh, UK : Canongate Books ; 2007.
9 Who Can You Trust? https://themoth.org/stories/who-can-you-trust.
10 ovariancancerorg. Dr. Maya Soetoro-Ng Ovarian Cancer PSA, Full Version. https://www.youtube.com/watch?v=EQmM7QQyvgs. Published September 15, 2015. Accessed June 7, 2020.
11 Obama White House. President Obama's 2015 State of the Union Address. https://www.youtube.com/watch?v=cse5cCGuHmE. Published January 20, 2015. Accessed June 7, 2020.
Obama B. Remarks by the President in State of the Union Address January 20, 2015. White House. https://obamawhitehouse.archives.gov/the-press-office/2015/01/20/remarks-president-state-union-address-January-20-2015.
12 President Obama's State of the Union Address-Remarks As Prepared for Delivery. Medium. https://medium.com/@ObamaWhite-House/president-obamas-state-of-the-union-address-remarks-asprepared-for-delivery-55f9825449b2. Published January 21, 2015. Accessed September 9, 2019.
https://www.youtube.com/watch?v=cse5cCGuHmE&t=16s. Retrieved. 2011 ; 27 : 2011
Remarks by the President in State of the Union Address-January 20, 2015. White House. https://obamawhitehouse.archives.gov/the-press-office/2015/01/20/remarks-president-state-union-address-January-20-2015. Published January 20, 2015. Accessed September 9, 2019.
13 National Research Council (US) Committee on a Framework for Developing a New Taxonomy of Disease. Toward Precision Medicine : Building a Knowledge Network for Biomedical Research and a New Taxonomy of Disease. Washington, D.C. : National Academies Press ; 2012
Ashley EA. Towards precision medicine. Nat Rev Genet. 2016 ; 17 : 507.
14 Remarks by the President on Precision Medicine. White House. https://obamawhitehouse.archives.gov/the-press-office/2015/01/30/remarks-president-precision-medicine. Published January 30, 2015. Accessed September 9, 2019.
15 Tozzi J. This Medical Charity Made $3.3 Billion from a Single Pill. Bloomberg News. https://www.bloomberg.com/news/features/2015-07-07/this-medical-charity-made-3-3-billion-from-a-single-pill. Published July 7, 2015. Accessed September 9, 2019.
16 All of Us Research Program Investigators, Denny JC, Rutter JL, et al. The "All of Us" Research Program. N Engl J Med. 2019 ; 381 (7) : 668-676.
17 A Profile of Kari Stefansson. Scientist. https://www.the-scientist.com/profile/master-decoder-a-profile-of-kri-stefnsson-65517. Accessed September 9, 2019.
18 Buckley C. There's an App That Keeps Icelanders from Dating Their Relatives. Culture Trip. https://theculturetrip.com/europe/iceland/articles/iceland-is-so-small-theres-an-appthat-keeps-icelanders-from-dating-their-relatives/. Accessed September 16, 2019.
19 Ganna A, Ingelsson E. 5 year mortality predictors in 498 103 UK Biobank participants : A prospective population-based study. Lancet. 2015 ; 386 (9993) : 533-540.
20 Global Biobank Engine. https://biobankengine.stanford.edu/.
21 Ong J-S, Hwang DL-D, Zhong VW, et al. Understanding the role of bitter taste perception in coffee, tea and alcohol consumption through Mendelian randomization. Sci Rep. 2018 ; 8 (1) : 16414.
22 https://twitter.com/anderson_carl/status/1176142417864605696?s=20. September 23, 2019, International Common Disease Alliance inaugural meeting.
24 Francioli L, Tiao G, Karczewski K, Solomonson M, Watts N. gnomAD v2 1. MacArthur Lab. 2018. https://gnomad.broadinstitute.org/.
P.402 掲載の参考文献
1 Roberts S. Dr. Holbrook Kohrt, Hemophiliac Who Made Condition a Crusade, Dies at 38. New York Times. https://www.nytimes.com/2016/03/02/health/dr-holbrook-kohrt-hemophiliac-who-made-the-condition-a-crusade-dies-at-38.html. Published March 1, 2016. Accessed June 7, 2020
Snyder A. Holbrook Kohrt. Lancet. 2016 ; 387 (10030) : 1810.
2 The Death of Jesse Gelsinger, 20 Years Later. Science History Institute. https://www.sciencehistory.org/distillations/the-death-of-jesse-gelsinger-20-years-later. Published June 4, 2019. Accessed June 7, 2020
Gene-therapy trials must proceed with caution. Nature. 2016 ; 534 (7609) : 590.
3 Weiss R, Nelson D. Teen dies undergoing experimental gene therapy. Washington Post. 1999 ; https://www.washingtonpost.com/wp-srv/WPcap/1999-09/29/060r-092999-idx.html. Accessed August 9, 2020.
4 Dunbar CE, High KA, Joung JK, Kohn DB, Ozawa K, Sadelain M. Gene therapy comes of age. Science. 2018 ; 359 (6372). doi : 10.1126/science.aan4672
Rangarajan S, Walsh L, Lester W, et al. AAV5-factor VIII gene transfer in severe hemophilia A. N Engl J Med. 2017 ; 377 (26) : 2519-2530
VandenDriessche T, Chuah MK. Hyperactive factor IX Padua : A game-changer for hemophilia gene therapy. Mol Ther. 2018 ; 26 (1) : 14-16
Pasi KJ, Fischer K, Ragni M, et al. Long-term safety and sustained efficacy for up to 5 years of treatment with recombinant factor IX Fc fusion protein in subjects with haemophilia B : Results from the B-YOND extension study. Haemophilia. June 2020. doi : 10.1111/hae.14036
5 America's Got Talent 2017 Christian Guardino Just the Intro and Judges' Comments S12E03 ; 2017. https://www.youtube.com/watch?v=pSjXKpGdXBw. Accessed January 2, 2020
Howard C. "AGT" Contestant Born with Blinding Disease Says Gift of Sight Allows Him "to See Such Incredible Things." August 2019. Fox News. https://www.foxnews.com/health/agt-contestant-born-blinding-disease-sight. Accessed January 12, 2020.
6 Streilein JW. Ocular immune privilege : Therapeutic opportunities from an experiment of nature. Nat Rev Immunol. 2003 ; 3 (11) : 879-889
Taylor AW. Ocular immune privilege. Eye. 2009 ; 23 (10) : 1885-1889.
7 Mercuri E, Darras BT, Chiriboga CA, et al. Nusinersen versus sham control in later-onset spinal muscular atrophy. N Engl J Med. 2018 ; 378 (7) : 625-635
Mendell R, Al-Zaidy S, Shell R, et al. Single-dose gene-replacement therapy for spinal muscular atrophy. N Engl J Med. 2017 ; 377 (18) : 1713-1722
Lorson CL, Hahnen E, Androphy EJ, Wirth B. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci USA. 1999 ; 96 (11) : 6307-6311
Kashima T, Manley JL. A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy. Nat Genet. 2003 ; 34 (4) : 460-463.
8 Zaleta K, Wheeler MT, Finsterbach T, Ashley EA. Allele specific silencing in vivo in a model of hypertrophic restrictive cardiomyopathy. Presented at Keystone Meeting : Cardiovascular Genetics. Tahoe City, California ; 2013
Zaleta-Rivera K, Dainis A, Ribeiro AJS, et al. Allele-specific silencing ameliorates restrictive cardiomyopathy attributable to a human myosin regulatory light chain mutation. Circulation. 2019 ; 140 (9) : 765-778
Zaleta K, Wheeler M, Finsterbach TP, Ashley EA. Allele specific silencing of mutant alleles in hypertrophic cardiomyopathy. J RNAi Gene Silencing. 2013 ; 9 : 486-489.
Armitage H, Dusheck J, Goldman B, Huber J, Stankus K. "Turning Down the Volume" of a Faulty Gene in Heart Disease. Scope. https://scopeblog.stanford.edu/2019/08/20/turning-down-the-volume-of-a-faulty-genein-heart-disease/. Published August 20, 2019. Accessed June 7, 2020.
9 Why Gene Therapy Caused Leukemia in Some "Boy in the Bubble Syndrome" Patients. Science Daily. August 2008. https://www.sciencedaily.com/releases/2008/08/080807175438.htm. Accessed February 13, 2020.
10 Doudna JA, Sternberg SH. A Crack in Creation : Gene Editing and the Unthinkable Power to Control Evolution. Boston : Houghton Mifflin Harcourt ; 2017 ; and Eric Lander's article Lander ES. The Heroes of CRISPR. Cell. 2016 ; 164 (1-2) : 18-28.
12 Collins FS. Statement on Claim of First Gene-Edited Babies by Chinese Researcher. National Institutes of Health. 2018. https://www.nih.gov/about-nih/who-we-are/nih-director/statements/statement-claim-first-gene-edited-babies-chinese-researcher.
13 Keshavan M, Branswell H, Herper M, Joseph A. Saving Mila : How Doctors Raced to Stop a Young Girl's Rare Disease. STAT. https://www.statnews.com/2018/10/22/a-tailormade-therapy-may-have-halted-a-rare-disease/. Published October 22, 2018. Accessed June 7, 2020
Kim J, Hu C, Moufawad El Achkar C, et al. Patient-customized oligonucleotide therapy for a rare genetic disease. N Engl J Med. 2019 ; 381 (17) : 1644-1652.
P.422 掲載の参考文献
1 Boykin LM, Ghalab A, De Marchi BR, et al. Real time portable genome sequencing for global food security. bioRxiv. May 2018 : 314526. doi : 10.1101/314526.
Taylor TL, Volkening JD, DeJesus E, et al. Rapid, multiplexed, whole genome and plasmid sequencing of foodborne pathogens using long-read nanopore technology. Sci Rep. 2019 ; 9 (1) : 16350.
2 Knowles JW, Ashley EA. Cardiovascular disease : The rise of the genetic risk score. PLOS Med. 2018 ; 15 (3) : e1002546.
3 Yong E. I Contain Multitudes : The Microbes Within Us and a Grander View of Life. New York : Random House ; 2016.
https://www.theatlantic.com/magazine/archive/2020/09/coronavirus-american-failure/614191/
4 Quammen D. Spillover : Animal Infections and the Next Human Pandemic. New York : W. W. Norton & Company ; 2012.
5 Coronavirus Expontential Growth. Google Trends. https://trends.google.com/trends/explore?geo=US&q=coronavirus%20exponential%20growth. Accessed June 9, 2020.
6 Glanz J, Robertson C. Lockdown Delays Cost at Least 36,000 Lives, Data Show. New York Times. https://www.nytimes.com/2020/05/20/us/coronavirus-distancing-deaths.html. Published May 21, 2020. Accessed June 9, 2020
Pei S, Kandula S, Shaman J. Differential effects of intervention timing on COVID-19 spread in the United States. medRxiv. May 2020. doi : 10.1101/2020.05.15.20103655.
7 Spinney L. Pale Rider : The Spanish Flu of 1918 and How It Changed the World. New York : PublicAffairs ; 2017.
9 Meet June Almeida, the Scottish Virologist Who First Identified the Coronavirus. World from PRX. https://www.pri.org/stories/2020-05-07/meet-june-almeida-scottish-virologist-who-first-identified-coronavirus. Accessed June 9, 2020
Brocklehurst S. The Woman Who Discovered the First Coronavirus. BBC. https://www.bbc.com/news/uk-scotland-52278716. Published April 15, 2020. Accessed June 9, 2020
Gellene D. Overlooked No More : June Almeida, Scientist Who Identified the First Coronavirus. New York Times. https://www.nytimes.com/2020/05/08/obituaries/june-almeida-overlooked-coronavirus.html. Published May 8, 2020. Accessed June 9, 2020.
10 Broughton JP, Deng X, Yu G, et al. CRISPRCas12-based detection of SARS-CoV-2. Nat Biotechnol. April 2020. doi : 10.1038/s41587-020-0513-4.
Joung J, Ladha A, Saito M, et al. Point-of-care testing for COVID-19 using SHERLOCK diagnostics. medRxiv. May 2020. doi : 10.1101/2020.05.04.20091231.
11 Folegatti PM, Ewer KJ, Aley PK, et al. Safety and immunogenicity of the ChAdOx1 nCoV-19 vaccine against SARS-CoV-2 : a preliminary report of a phase 1/2, single-blind, randomised controlled trial. Lancet. Published online July 20, 2020. doi : 10.1016/S0140-6736 (20) 31604-4.
12 Peccia J, Zulli A, Brackney DE, et al. SARS-CoV-2 RNA concentrations in primary municipal sewage sludge as a leading indicator of COVID-19 outbreak dynamics. Epidemiology. May 2020. doi : 10.1101/2020.05.19.20105999.
13 Regulations : The Safe Drinking Water Act. https://www.cdc.gov/healthywater/drinking/public/regulations.html. Published October 10, 2018. Accessed June 10, 2020.
14 Abbott TR, Dhamdhere G, Liu Y, et al. Development of CRISPR as an antiviral strategy to combat SARS-CoV-2 and influenza. Cell. 2020 ; 181 (4) : 865-876.e12.
15 Yates N, Metraux E, Zayner J, Johnston J, Stauffer W, Ricci DM. I have SMA. Critics of the $2 Million New Therapy Are Missing the Point. STAT. https://www.statnews.com/2019/05/31/spinal-muscular-atrophy-zolgensma-price-critics/. Published May 31, 2019. Accessed January 4, 2020
Cassidy B, Metraux E, Zayner J, Johnston J, Stauffer W, Ricci DM. How Will We Pay For Potentially Curative Gene Therapies? STAT. https://www.statnews.com/2019/06/12/paying-for-coming-generation-gene-therapies/. Published June 12, 2019. Accessed January 4, 2020.

最近チェックした商品履歴

Loading...