Selected Publications

Academic Article

Year Title Altmetric
2021 Physicians’ role in the COVID-19 infodemic: A reflectionSouthern Medical Journal.  114:812-814. 2021
2021 Rare disease patient matchmaking: development and outcomes of an internet case-finding strategy in the Undiagnosed Diseases NetworkOrphanet Journal of Rare Diseases.  16. 2021
2021 “Doctors can read about it, they can know about it, but they've never lived with it”: How parents use social media throughout the diagnostic odysseyJournal of Genetic Counseling.  30:1707-1718. 2021
2021 Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11Genetics in Medicine.  23:1889-1900. 2021
2021 A novel de novo intronic variant in ITPR1 causes Gillespie syndrome 2021
2021 PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy 2021
2021 Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odysseyMolecular Genetics and Genomic Medicine.  9. 2021
2021 Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsyHuman Genetics.  140:1109-1120. 2021
2021 Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling ConundrumMolecular Genetics and Genomic Medicine.  9. 2021
2021 A state-based approach to genomics for rare disease and population screeningGenetics in Medicine.  23:777-781. 2021
2021 An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipidsGenetics in Medicine.  23:740-750. 2021
2021 Family genetic result communication in rare and undiagnosed disease communities: Understanding the practiceJournal of Genetic Counseling.  30:439-447. 2021
2021 Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and scienceGenetics in Medicine.  23:259-271. 2021
2020 DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literatureMolecular Genetics and Genomic Medicine.  8. 2020
2020 Recruiting diversity where it exists: The Alabama Genomic Health InitiativeJournal of Genetic Counseling.  29:471-478. 2020
2020 Return of raw data in genomic testing and research: ownership, partnership, and risk–benefitGenetics in Medicine.  22:12-14. 2020
2019 How the atacama skeleton might advance discussion of responsible conduct of research responsibilities 2019
2019 Developing a professionalism curriculum on the nonmedical use of prescription stimulants among medical studentsInternational Journal of Medical Education.  10:193-194. 2019
2019 N-of-1 Precision Medicine and Research Oversight 2019
2018 Bart Schultz, The Happiness Philosophers: The Lives and Works of the Great Utilitarians (Princeton: Princeton University Press, 2017), pp. 456.Utilitas.  30:248-252. 2018
2015 EZH2 protects Glioma stem cells from radiation-induced cell death in a MELK/FOXM1-dependent mannerStem Cell Reports.  4:226-238. 2015
2014 Ethics of iPSC-Based Clinical Research for Age-Related Macular Degeneration: Patient-Centered Risk-Benefit AnalysisStem Cell Reviews and Reports.  10:743-752. 2014
2014 Multi-kinase inhibitor c1 triggers mitotic catastrophe of glioma stem cells mainly through melk kinase inhibitionPLoS ONE.  9. 2014
2014 Multi-kinase inhibitor C1 triggers mitotic catastrophe of Glioma stem cells mainly through MELK kinase inhibitionPLoS ONE.  9. 2014
2002 Freedom of Will, Morality, and Responsibility : the marked Contrast between Sidgwick's Utilitarianism and Kantian EthicsAnnual of philosophy.  61:75-93. 2002
2001 The deepest discrepancies between Utilitarian and Kantian Ethics哲学論文集.  1-28. 2001
1999 書評Studies in British Philosophy.  22:91-112. 1999
1998 On the Comparison of the Strength of PreferencesStudien zur praktischen Philosophie.  1-21. 1998
1998 Parfit's Defence of Utilitarianism--A New Look from the Theory on Person and Personal IdentityThe Journal of philosophical studies.  84-100. 1998
1998 シジウィックの快楽説再考Arch(0xFAD0).  38-48. 1998
1998 行為と欲求の合理性--R・B・ブラントの論議を手がかりに倫理学研究.  28:110-122. 1998
1997 パ-フィットの功利主義擁護論--人格論からのアプロ-チThe Journal of philosophical studies.  81-114. 1997
1995 Parfi's Argument about Persons and Personal IdentityStudien zur praktischen Philosophie.  21-39. 1995
1995 共同体主義と医療倫理 (<研究報告> 共同体主義とはなにか ) 1995
1994 パターナリズムとインフォームド・コンセント (<研究報告> 医療の倫理学) 1994


Year Title Altmetric
2011 Sidgwick and contemporary utilitarianism 2011

Education And Training

  • Doctor of Philosophy, 1998
  • Full Name

  • Mariko Nakano