Detalhe da pesquisa
1.
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.
BMC Cardiovasc Disord
; 21(1): 126, 2021 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33673806
2.
Sparse group factor analysis for biclustering of multiple data sources.
Bioinformatics
; 32(16): 2457-63, 2016 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27153643
3.
Opt-in for secondary findings as part of diagnostic whole-exome sequencing: Real-life experience from an international diagnostic laboratory.
Mol Genet Genomic Med
; 11(8): e2180, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37025058
4.
Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.
Front Cardiovasc Med
; 10: 1254272, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37795486
5.
Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients.
Transl Vis Sci Technol
; 11(1): 6, 2022 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34985506
6.
Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis.
PLoS One
; 16(9): e0255933, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34469436
7.
Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.
Orphanet J Rare Dis
; 16(1): 412, 2021 10 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34627339
8.
GRINL1A Complex Transcription Unit Containing GCOM1, MYZAP, and POLR2M Genes Associates with Fully Penetrant Recessive Dilated Cardiomyopathy.
Front Genet
; 12: 786705, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34899865
9.
Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy.
PLoS One
; 16(2): e0245681, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33534821
10.
Correction to: Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.
Orphanet J Rare Dis
; 17(1): 59, 2022 Feb 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35177119