Detalhe da pesquisa
1.
Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease.
BMC Genomics
; 25(1): 371, 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38627676
2.
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data.
Hum Genet
; 143(5): 649-666, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38538918
3.
LeafCutterMD: an algorithm for outlier splicing detection in rare diseases.
Bioinformatics
; 36(17): 4609-4615, 2020 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32315392
4.
Impact of integrated translational research on clinical exome sequencing.
Genet Med
; 23(3): 498-507, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33144682
5.
COVID-19 Mortality Prediction From Deep Learning in a Large Multistate Electronic Health Record and Laboratory Information System Data Set: Algorithm Development and Validation.
J Med Internet Res
; 23(9): e30157, 2021 09 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34449401
6.
Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies.
J Clin Immunol
; 38(3): 307-319, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29671115
7.
Impact of integrated translational research on clinical exome sequencing.
Genet Med
; 25(2): 100359, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36745126
8.
Integrated genomic characterization reveals novel, therapeutically relevant drug targets in FGFR and EGFR pathways in sporadic intrahepatic cholangiocarcinoma.
PLoS Genet
; 10(2): e1004135, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24550739
9.
PatternCNV: a versatile tool for detecting copy number changes from exome sequencing data.
Bioinformatics
; 30(18): 2678-80, 2014 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24876377
10.
Bioinformatics for clinical next generation sequencing.
Clin Chem
; 61(1): 124-35, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25451870
11.
P2T2: Protein Panoramic annoTation Tool for the interpretation of protein coding genetic variants.
JAMIA Open
; 4(3): ooab065, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34377961
12.
SeekFusion - A Clinically Validated Fusion Transcript Detection Pipeline for PCR-Based Next-Generation Sequencing of RNA.
Front Genet
; 12: 739054, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34745213
13.
LPCAT1-TERT fusions are uniquely recurrent in epithelioid trophoblastic tumors and positively regulate cell growth.
PLoS One
; 16(5): e0250518, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34033669
14.
The colorectal cancer disease-specific transcriptome may facilitate the discovery of more biologically and clinically relevant information.
BMC Cancer
; 10: 687, 2010 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-21172019
15.
Interpretation challenges of novel dual-class missense and splice-impacting variant in POLR3A-related late-onset hereditary spastic ataxia.
Mol Genet Genomic Med
; 8(9): e1341, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32597037
16.
Identification of differentially expressed sense and antisense transcript pairs in breast epithelial tissues.
BMC Genomics
; 10: 324, 2009 Jul 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-19615061
17.
A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease.
PLoS One
; 14(10): e0223337, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31577830
18.
RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas.
Mol Genet Genomic Med
; 7(3): e00560, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30632316
19.
Assessing Human Genetic Variations in Glucose Transporter SLC2A10 and Their Role in Altering Structural and Functional Properties.
Front Genet
; 9: 276, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30090112
20.
Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants.
Eur J Hum Genet
; 26(12): 1797-1809, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30097616