Detalhe da pesquisa
1.
Challenges of secondary finding disclosure in genomic medicine in rare diseases: A nation-wide survey of Japanese facilities outsourcing comprehensive genetic testing.
J Hum Genet
; 68(1): 1-9, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36192516
2.
Decision-making processes behind seeking regular cardiac checkups for individuals with Marfan syndrome: A grounded theory study.
J Genet Couns
; 2023 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37965685
3.
Mortality and morbidity of infants with trisomy 21, weighing 1500 grams or less, in Japan.
J Hum Genet
; 67(11): 623-628, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35787654
4.
Six years' accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures.
J Hum Genet
; 67(9): 505-513, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35318459
5.
Current status and issues related to secondary findings in the first public insurance covered tumor genomic profiling in Japan: multi-site questionnaire survey.
J Hum Genet
; 67(10): 557-563, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35322199
6.
Implementation of Molecular Autopsy for Sudden Cardiac Death in Japanã- Focus Group Study of Stakeholders.
Circ J
; 87(1): 123-129, 2022 12 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36372399
7.
Germline sequencing for presumed germline pathogenic variants via tumor-only comprehensive genomic profiling.
Int J Clin Oncol
; 27(8): 1256-1263, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35567649
8.
Prevalence of pathogenic germline variants in the circulating tumor DNA testing.
Int J Clin Oncol
; 27(10): 1554-1561, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35870019
9.
Perception of genetic testing among patients with inherited retinal disease: Benefits and challenges in a Japanese population.
J Genet Couns
; 31(4): 860-867, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35106875
10.
Japanese women's reasons for accompaniment status to hereditary breast and ovarian cancer-focused genetic counseling.
J Genet Couns
; 31(2): 497-509, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34661949
11.
[Hereditary Tumor Medical Care in the Age of Cancer Genomic Medicine].
Gan To Kagaku Ryoho
; 49(3): 237-242, 2022 Mar.
Artigo
em Japonês
| MEDLINE | ID: mdl-35299173
12.
Optimization of prediction methods for risk assessment of pathogenic germline variants in the Japanese population.
Cancer Sci
; 112(8): 3338-3348, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34036661
13.
The short-term mortality and morbidity of very low birth weight infants with trisomy 18 or trisomy 13 in Japan.
J Hum Genet
; 66(3): 273-285, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32943740
14.
[Factors Influencing the DecisionâMaking Process in Secondary Findings Disclosure in NextâGeneration Sequencing-A Literature Review].
Gan To Kagaku Ryoho
; 48(5): 667-671, 2021 May.
Artigo
em Japonês
| MEDLINE | ID: mdl-34006710
15.
Epidemiology of Birth Defects in Very Low Birth Weight Infants in Japan.
J Pediatr
; 226: 106-111.e10, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32634406
16.
Clinical significance of TP53 variants as possible secondary findings in tumor-only next-generation sequencing.
J Hum Genet
; 65(2): 125-132, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31628423
17.
Association of ALPL variants with serum alkaline phosphatase and bone traits in the general Japanese population: The Nagahama Study.
J Hum Genet
; 65(3): 337-343, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31857675
18.
Attitudes toward and current status of disclosure of secondary findings from next-generation sequencing: a nation-wide survey of clinical genetics professionals in Japan.
J Hum Genet
; 65(12): 1045-1053, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32661284
19.
Truncating Variants Contribute to Hearing Loss and Severe Retinopathy in USH2A-Associated Retinitis Pigmentosa in Japanese Patients.
Int J Mol Sci
; 21(21)2020 Oct 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33105608
20.
[Management of Secondary Findings].
Gan To Kagaku Ryoho
; 47(8): 1153-1157, 2020 Aug.
Artigo
em Japonês
| MEDLINE | ID: mdl-32829346