Selected Publications

Academic Article

Year Title Altmetric
2023 Does genetic testing offer utility as a supplement to traditional family health history intake for inherited disease risk?Family Practice2023
2022 Bilateral choanal stenosis in auriculocondylar syndrome caused by a PLCB4 variantAmerican Journal of Medical Genetics Part A.  188:1307-1310. 2022
2022 Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curationJournal of Genetic Counseling.  31:326-337. 2022
2022 Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic diseaseMolecular Genetics and Genomic Medicine.  10. 2022
2022 Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristicsAmerican Journal of Medical Genetics Part A.  188:1088-1101. 2022
2022 Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examplesJournal of Genetic Counseling.  31:59-70. 2022
2022 The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorderHuman Mutation.  43:266-282. 2022
2022 Variable clinical severity in TANGO2 deficiency: Case series and literature reviewAmerican Journal of Medical Genetics Part A.  188:473-487. 2022
2022 Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signalingScience Advances.  8. 2022
2021 Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids (Genetics in Medicine (2021) 23(4) (740–750), (S1098360021024461), (10.1038/s41436-020-01027-3))Genetics in Medicine.  23:2467. 2021
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 Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations (Genetics in Medicine, (2021), 23, 10, (1922-1932), 10.1038/s41436-021-01232-8)Genetics in Medicine.  23:2016. 2021
2021 Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11Genetics in Medicine.  23:1889-1900. 2021
2021 Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestationsGenetics in Medicine.  23:1922-1932. 2021
2021 A novel de novo intronic variant in ITPR1 causes Gillespie syndromeAmerican Journal of Medical Genetics Part A.  185:2315-2324. 2021
2021 PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy 2021
2021 TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort studyAmerican Journal of Medical Genetics Part A.  185:2417-2433. 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 Ethics 2002
2001 The deepest discrepancies between Utilitarian and Kantian Ethics 2001
1999 書評 1999
1998 On the Comparison of the Strength of Preferences 1998
1998 Parfit's Defence of Utilitarianism--A New Look from the Theory on Person and Personal Identity 1998
1998 シジウィックの快楽説再考 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 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 1997
1995 Parfi's Argument about Persons and Personal Identity 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