| Year |
Title |
Altmetric |
| 2022
|
Bilateral choanal stenosis in auriculocondylar syndrome caused by a PLCB4 variant.
American 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 curation.
Journal of Genetic Counseling.
31:326-337.
2022
|
|
| 2022
|
Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease.
Molecular Genetics and Genomic Medicine.
10.
2022
|
|
| 2022
|
Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics.
American 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 examples.
Journal of Genetic Counseling.
31:59-70.
2022
|
|
| 2022
|
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
Human Mutation.
43:266-282.
2022
|
|
| 2022
|
Variable clinical severity in TANGO2 deficiency: Case series and literature review.
American Journal of Medical Genetics Part A.
188:473-487.
2022
|
|
| 2022
|
Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling.
Science 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 reflection.
Southern Medical Journal.
114:812-814.
2021
|
|
| 2021
|
Rare disease patient matchmaking: development and outcomes of an internet case-finding strategy in the Undiagnosed Diseases Network.
Orphanet 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 odyssey.
Journal 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 GDF11.
Genetics in Medicine.
23:1889-1900.
2021
|
|
| 2021
|
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Genetics in Medicine.
23:1922-1932.
2021
|
|
| 2021
|
A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.
American 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 study.
American 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 odyssey.
Molecular Genetics and Genomic Medicine.
9.
2021
|
|
| 2021
|
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.
Human 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 Conundrum.
Molecular Genetics and Genomic Medicine.
9.
2021
|
|
| 2021
|
A state-based approach to genomics for rare disease and population screening.
Genetics 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 lipids.
Genetics in Medicine.
23:740-750.
2021
|
|
| 2021
|
Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice.
Journal of Genetic Counseling.
30:439-447.
2021
|
|
| 2021
|
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.
Genetics in Medicine.
23:259-271.
2021
|
|
| 2020
|
DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.
Molecular Genetics and Genomic Medicine.
8.
2020
|
|
| 2020
|
Recruiting diversity where it exists: The Alabama Genomic Health Initiative.
Journal of Genetic Counseling.
29:471-478.
2020
|
|
| 2020
|
Return of raw data in genomic testing and research: ownership, partnership, and risk–benefit.
Genetics 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 students.
International 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 manner.
Stem Cell Reports.
4:226-238.
2015
|
|
| 2014
|
Ethics of iPSC-Based Clinical Research for Age-Related Macular Degeneration: Patient-Centered Risk-Benefit Analysis.
Stem Cell Reviews and Reports.
10:743-752.
2014
|
|
| 2014
|
Multi-kinase inhibitor c1 triggers mitotic catastrophe of glioma stem cells mainly through melk kinase inhibition.
PLoS One.
9.
2014
|
|
| 2014
|
Multi-kinase inhibitor C1 triggers mitotic catastrophe of Glioma stem cells mainly through MELK kinase inhibition.
PLoS 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
|
|
