Search details
1.
Novel compound heterozygous mutations in UHRF1 are associated with atypical immunodeficiency, centromeric instability and facial anomalies syndrome with distinctive genome-wide DNA hypomethylation.
Hum Mol Genet
; 32(9): 1439-1456, 2023 04 20.
Article
in English
| MEDLINE | ID: mdl-36458887
2.
Comprehensive analysis of full-length transcripts reveals novel splicing abnormalities and oncogenic transcripts in liver cancer.
PLoS Genet
; 18(8): e1010342, 2022 08.
Article
in English
| MEDLINE | ID: mdl-35926060
3.
Inherited CARD9 Deficiency Due to a Founder Effect in East Asia.
J Clin Immunol
; 44(5): 121, 2024 May 17.
Article
in English
| MEDLINE | ID: mdl-38758287
4.
Localized assembly for long reads enables genome-wide analysis of repetitive regions at single-base resolution in human genomes.
Hum Genomics
; 17(1): 21, 2023 03 09.
Article
in English
| MEDLINE | ID: mdl-36895025
5.
Comprehensive analysis of microsatellite polymorphisms in human populations.
Hum Genet
; 142(1): 45-57, 2023 Jan.
Article
in English
| MEDLINE | ID: mdl-36048238
6.
Long-read sequencing reveals the complex structure of extra dic(21;21) chromosome and its biological effects.
Hum Genet
; 142(9): 1375-1384, 2023 Sep.
Article
in English
| MEDLINE | ID: mdl-37432452
7.
Comprehensive analysis of indels in whole-genome microsatellite regions and microsatellite instability across 21 cancer types.
Genome Res
; 2020 Mar 24.
Article
in English
| MEDLINE | ID: mdl-32209592
8.
Vimentin-positive invasive breast carcinoma of no special type: A breast carcinoma with lethal biological characteristics.
Pathol Int
; 73(9): 413-433, 2023 Sep.
Article
in English
| MEDLINE | ID: mdl-37378453
9.
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.
Article
in English
| MEDLINE | ID: mdl-35710107
10.
Prediction Model with HLA-A*33:03 Reveals Number of Days to Develop Liver Cancer from Blood Test.
Int J Mol Sci
; 24(5)2023 Mar 01.
Article
in English
| MEDLINE | ID: mdl-36902191
11.
Characterization of intermediate-sized insertions using whole-genome sequencing data and analysis of their functional impact on gene expression.
Hum Genet
; 140(8): 1201-1216, 2021 Aug.
Article
in English
| MEDLINE | ID: mdl-33978893
12.
Systematic clustering algorithm for chromatin accessibility data and its application to hematopoietic cells.
PLoS Comput Biol
; 16(11): e1008422, 2020 11.
Article
in English
| MEDLINE | ID: mdl-33253153
13.
Multiregional whole-genome sequencing of hepatocellular carcinoma with nodule-in-nodule appearance reveals stepwise cancer evolution.
J Pathol
; 252(4): 398-410, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32815153
14.
[Clinical Outcomes of Five Cases of Occult Breast Cancer in Which the Primary Site Was Not Detected in the Breast-by-Breast MRI].
Gan To Kagaku Ryoho
; 48(9): 1127-1131, 2021 Sep.
Article
in Japanese
| MEDLINE | ID: mdl-34521790
15.
Genome sequencing analysis of liver cancer for precision medicine.
Semin Cancer Biol
; 55: 120-127, 2019 04.
Article
in English
| MEDLINE | ID: mdl-29605648
16.
[Patient with Recurrent Breast Cancer Who Developed Radiation Esophagitis with Severe Esophageal Stenosis after Combined Bevacizumab and Paclitaxel Therapy-A Case Report].
Gan To Kagaku Ryoho
; 47(11): 1605-1608, 2020 Nov.
Article
in Japanese
| MEDLINE | ID: mdl-33268737
17.
Whole genome sequencing and mutation rate analysis of trios with paternal dioxin exposure.
Hum Mutat
; 39(10): 1384-1392, 2018 10.
Article
in English
| MEDLINE | ID: mdl-29969170
18.
A Highly Specific Genome-Wide Association Study Integrated with Transcriptome Data Reveals the Contribution of Copy Number Variations to Specialized Metabolites in Arabidopsis thaliana Accessions.
Mol Biol Evol
; 34(12): 3111-3122, 2017 Dec 01.
Article
in English
| MEDLINE | ID: mdl-28961930
19.
Genomic characterization of biliary tract cancers identifies driver genes and predisposing mutations.
J Hepatol
; 68(5): 959-969, 2018 05.
Article
in English
| MEDLINE | ID: mdl-29360550
20.
Whole genome sequencing discriminates hepatocellular carcinoma with intrahepatic metastasis from multi-centric tumors.
J Hepatol
; 66(2): 363-373, 2017 02.
Article
in English
| MEDLINE | ID: mdl-27742377