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.
The evolving genetic etiology of conotruncal anomalies.
Prenat Diagn;
2024 Feb 16.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38363003
3.
Diagnosis of inborn errors of metabolism through prenatal exome sequencing with targeted analysis for fetal structural anomalies.
Prenat Diagn;
44(4): 432-442, 2024 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38063435
4.
When should we offer antenatal sequencing for urinary tract malformations? A systematic review, cohort study and meta-analysis.
Prenat Diagn;
44(2): 187-195, 2024 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38056891
5.
Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.
Prenat Diagn;
44(4): 422-431, 2024 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38054560
6.
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
7.
A novel SMOC1 pathogenic homozygous variant in a fetus with mesomelia of the lower limbs, micrognathia and hypertelorism and an incidental finding of CYP21A2-related congenital adrenal hyperplasia.
Prenat Diagn;
43(13): 1674-1677, 2023 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38059661
8.
Prenatal diagnosis of mucopolysaccharidosis type VII facilitating treatment in neonatal period.
Prenat Diagn;
43(12): 1567-1569, 2023 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37964423
9.
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
10.
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
11.
International Society for Prenatal Diagnosis Updated Position Statement on the use of genome-wide sequencing for prenatal diagnosis.
Prenat Diagn;
42(6): 796-803, 2022 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35583085
12.
Lessons learnt from prenatal exome sequencing.
Prenat Diagn;
42(7): 831-844, 2022 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35506549
13.
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
14.
Cell-Free DNA in Pediatric Solid Organ Transplantation Using a New Detection Method of Separating Donor-Derived from Recipient Cell-Free DNA.
Clin Chem;
66(10): 1300-1309, 2020 10 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32882007
15.
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
16.
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
17.
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.
Proc Natl Acad Sci U S A;
113(9): E1236-45, 2016 Mar 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26884178
18.
Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management.
Genet Med;
20(11): 1430-1437, 2018 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29595812
19.
Prenatal diagnosis of skeletal dysplasias using a targeted skeletal gene panel.
Prenat Diagn;
38(9): 692-699, 2018 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29907962
20.
In their own voices: methodological considerations in narrative disability research.
Qual Health Res;
24(3): 420-30, 2014 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24572012