Detalhe da pesquisa
1.
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.
Hum Genomics
; 17(1): 39, 2023 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37138343
2.
Presence of Genetic Variants Among Young Men With Severe COVID-19.
JAMA
; 324(7): 663-673, 2020 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32706371
3.
Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis.
Hum Mutat
; 40(11): 1993-2000, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31230393
4.
Detection of the ACAGG Repeat Motif in RFC1 in Two Dutch Ataxia Families.
Mov Disord
; 38(8): 1555-1556, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37165958
5.
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.
Eur J Hum Genet
; 32(2): 200-208, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37853102
6.
Genome sequencing as a generic diagnostic strategy for rare disease.
Genome Med
; 16(1): 32, 2024 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38355605
7.
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders.
Eur J Hum Genet
; 31(1): 81-88, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36114283
8.
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
HGG Adv
; 4(2): 100181, 2023 04 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36785559
9.
Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.
Eur J Hum Genet
; 32(2): 248, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37973950