Detalhe da pesquisa
1.
'Something that helped the whole picture': Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service.
Prenat Diagn
; 44(4): 465-479, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38441167
2.
Should we offer prenatal exome sequencing for intrauterine growth restriction or short long bones? A systematic review and meta-analysis.
Am J Obstet Gynecol
; 228(4): 409-417.e4, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36209938
3.
Likely pathogenic variant in the BICD2 gene in fetus presenting with non-immune hydrops.
Prenat Diagn
; 43(6): 727-729, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37173812
4.
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
5.
Lessons learnt from prenatal exome sequencing.
Prenat Diagn
; 42(7): 831-844, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35506549
6.
Implementing a rapid fetal exome sequencing service: What do parents and health professionals think?
Prenat Diagn
; 42(6): 783-795, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35383981
7.
Fetal central nervous system anomalies: When should we offer exome sequencing?
Prenat Diagn
; 42(6): 736-743, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35411553
8.
Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.
Genet Med
; 23(7): 1315-1324, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33864021
9.
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
Lancet
; 393(10173): 747-757, 2019 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-30712880
10.
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
11.
Noninvasive Prenatal Diagnosis for Cystic Fibrosis: Implementation, Uptake, Outcome, and Implications.
Clin Chem
; 66(1): 207-216, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31551312
12.
The role of sonographic phenotyping in delivering an efficient noninvasive prenatal diagnosis service for FGFR3-related skeletal dysplasias.
Prenat Diagn
; 40(7): 785-791, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32227640
13.
Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.
Genet Med
; 23(7): 1376-1377, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34040196
14.
Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service.
NIHR Open Res
; 2: 10, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35935673
15.
Delivering genome sequencing for rapid genetic diagnosis in critically ill children: parent and professional views, experiences and challenges.
Eur J Hum Genet
; 28(11): 1529-1540, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32561901
16.
Update on the use of exome sequencing in the diagnosis of fetal abnormalities.
Eur J Med Genet
; 62(8): 103663, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31085342
17.
Next-generation sequencing and the impact on prenatal diagnosis.
Expert Rev Mol Diagn
; 18(8): 689-699, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29962246