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.
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).
J Med Genet
; 59(9): 865-877, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34815299
3.
The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project.
J Hum Genet
; 67(1): 9-17, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34234266
4.
Clinical and molecular features of patients with COL1-related disorders: Implications for the wider spectrum and the risk of vascular complications.
Am J Med Genet A
; 188(9): 2560-2575, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35822426
5.
Risk of major congenital malformations associated with first-trimester exposure to propulsives: A health administrative database study in Japan.
Pharmacoepidemiol Drug Saf
; 31(2): 196-205, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34628689
6.
Validity of congenital malformation diagnoses in healthcare claims from a university hospital in Japan.
Pharmacoepidemiol Drug Saf
; 30(7): 975-978, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33835610
7.
Recurrent de novo MAPK8IP3 variants cause neurological phenotypes.
Ann Neurol
; 85(6): 927-933, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30945334
8.
Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.
Am J Med Genet A
; 182(10): 2333-2344, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32803813
9.
Kabuki syndrome: international consensus diagnostic criteria.
J Med Genet
; 56(2): 89-95, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30514738
10.
Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals.
Hum Genet
; 138(4): 389-409, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30887117
11.
A training and education program for genome medical research coordinators in the genome cohort study of the Tohoku Medical Megabank Organization.
BMC Med Educ
; 19(1): 297, 2019 Aug 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31375111
12.
A comparison of genome cohort participants' genetic knowledge and preferences to receive genetic results before and after a genetics workshop.
J Hum Genet
; 63(11): 1139-1147, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30185949
13.
Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals.
J Hum Genet
; 63(2): 213-230, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29192238
14.
Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.
Hum Genet
; 135(2): 209-22, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26714497
15.
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.
Am J Hum Genet
; 93(1): 173-80, 2013 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23791108
16.
Exome sequencing-based identification of mutations in non-syndromic genes among individuals with apparently syndromic features.
Am J Med Genet A
; 170(11): 2889-2894, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27566442
17.
The Tohoku Medical Megabank Project: Design and Mission.
J Epidemiol
; 26(9): 493-511, 2016 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27374138
18.
Psychosocial Responses to being Identified as a Balanced Chromosomal Translocation Carrier: a Qualitative Investigation of Parents in Japan.
J Genet Couns
; 24(6): 922-30, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25787091
19.
Surgical intervention for esophageal atresia in patients with trisomy 18.
Am J Med Genet A
; 164A(2): 324-30, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24311518
20.
Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome.
Am J Med Genet A
; 164A(3): 597-609, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24357569