Detalhe da pesquisa
1.
Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads.
Am J Hum Genet
; 111(4): 701-713, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531366
2.
Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases.
J Med Genet
; 2024 Mar 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38499336
3.
Common Ancestry-Specific Ion Channel Variants Predispose to Drug-Induced Arrhythmias.
Circulation
; 145(4): 299-308, 2022 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34994586
4.
Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study.
Circulation
; 145(12): 877-891, 2022 03 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34930020
5.
High-Throughput Reclassification of SCN5A Variants.
Am J Hum Genet
; 107(1): 111-123, 2020 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32533946
6.
Continuous Bayesian variant interpretation accounts for incomplete penetrance among Mendelian cardiac channelopathies.
Genet Med
; 25(3): 100355, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36496179
7.
Comprehensive genetic screening for vascular Ehlers-Danlos syndrome through an amplification-based next-generation sequencing system.
Am J Med Genet A
; 191(1): 37-51, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36189931
8.
Non-missense variants of KCNH2 show better outcomes in type 2 long QT syndrome.
Europace
; 25(4): 1491-1499, 2023 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36861347
9.
Association between postoperative delirium and heart rate variability in the intensive care unit and readmissions and mortality in elderly patients with cardiovascular surgery.
Heart Vessels
; 38(3): 438-447, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36205773
10.
Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencing.
J Med Genet
; 59(11): 1133-1138, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35710107
11.
Central extracorporeal membrane oxygenation with left-ventricular vent for fulminant myocarditis: a retrospective study.
J Artif Organs
; 26(4): 297-302, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36348184
12.
Dominant negative effects of SCN5A missense variants.
Genet Med
; 24(6): 1238-1248, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35305865
13.
Loss-of-function mutations in cardiac ryanodine receptor channel cause various types of arrhythmias including long QT syndrome.
Europace
; 24(3): 497-510, 2022 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34661651
14.
Allogeneic transplantation of iPS cell-derived cardiomyocytes regenerates primate hearts.
Nature
; 538(7625): 388-391, 2016 Oct 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-27723741
15.
Left Coronary Cusp with Fenestration Adherent to the Aortic Wall.
Int Heart J
; 63(2): 404-407, 2022 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35296613
16.
[Successful Removal of Intrapericardial Needle using Needle Guidance System].
Kyobu Geka
; 75(8): 593-597, 2022 Aug.
Artigo
em Japonês
| MEDLINE | ID: mdl-35892297
17.
Triiodothyronine and dexamethasone alter potassium channel expression and promote electrophysiological maturation of human-induced pluripotent stem cell-derived cardiomyocytes.
J Mol Cell Cardiol
; 161: 130-138, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34400182
18.
Homology-Based Interactions between Small RNAs and Their Targets Control Dominance Hierarchy of Male Determinant Alleles of Self-Incompatibility in Arabidopsis lyrata.
Int J Mol Sci
; 22(13)2021 Jun 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34209661
19.
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients.
J Med Genet
; 56(10): 662-670, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31213501
20.
Association of CRX genotypes and retinal phenotypes confounded by variable expressivity and electronegative electroretinogram.
Clin Exp Ophthalmol
; 48(5): 644-657, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32112665