Detalhe da pesquisa
1.
Expanding Access to Noninvasive Prenatal Diagnosis for Monogenic Conditions to Consanguineous Families.
Clin Chem
; 70(5): 727-736, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38592422
2.
Identification of mutants with increased variation in cell size at onset of mitosis in fission yeast.
J Cell Sci
; 134(3)2021 02 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33419777
3.
Non-invasive fetal genotyping for maternal alleles with droplet digital PCR: A comparative study of analytical approaches.
Prenat Diagn
; 43(4): 477-488, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36760169
4.
Non-invasive prenatal diagnosis (NIPD): how analysis of cell-free DNA in maternal plasma has changed prenatal diagnosis for monogenic disorders.
Clin Sci (Lond)
; 136(22): 1615-1629, 2022 11 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36383187
5.
Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta-analysis.
Prenat Diagn
; 42(6): 662-685, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35170059
6.
Lessons learnt from prenatal exome sequencing.
Prenat Diagn
; 42(7): 831-844, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35506549
7.
Noninvasive Prenatal Diagnosis of Single-Gene Diseases: The Next Frontier.
Clin Chem
; 66(1): 53-60, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31843868
8.
Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications.
Expert Rev Mol Diagn
; 23(9): 797-814, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37642407
9.
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.
Lancet Neurol
; 22(9): 812-825, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37596007