Detalhe da pesquisa
1.
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.
Am J Hum Genet
; 110(12): 2015-2028, 2023 Dec 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37979581
2.
Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study.
Am J Hum Genet
; 109(6): 1140-1152, 2022 06 02.
Artigo
Inglês
| MEDLINE | ID: mdl-35659929
3.
Evaluating the effectiveness of pre-operative diagnosis of ovarian cancer using minimally invasive liquid biopsies by combining serum human epididymis protein 4 and cell-free DNA in patients with an ovarian mass.
Int J Gynecol Cancer
; 34(5): 713-721, 2024 May 06.
Artigo
Inglês
| MEDLINE | ID: mdl-38388177
4.
Current controversies in prenatal diagnosis: Noninvasive prenatal testing should replace other screening strategies for fetal trisomies 13, 18, 21.
Prenat Diagn
; 44(4): 381-388, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38047733
5.
Variability in Fetal Fraction Estimation: Comparing Fetal Fractions Reported by Noninvasive Prenatal Testing Providers Globally.
Clin Chem
; 69(2): 160-167, 2023 02 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36576352
6.
Fetal fraction of cell-free DNA in noninvasive prenatal testing and adverse pregnancy outcomes: a nationwide retrospective cohort study of 56,110 pregnant women.
Am J Obstet Gynecol
; 2023 Dec 12.
Artigo
Inglês
| MEDLINE | ID: mdl-38097030
7.
Clinically relevant DNA viruses in pregnancy.
Prenat Diagn
; 43(4): 457-466, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35170055
8.
The cell-free DNA virome of 108,349 Dutch pregnant women.
Prenat Diagn
; 43(4): 448-456, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35403226
9.
Association between low fetal fraction in cell-free DNA screening and fetal chromosomal aberrations: A systematic review and meta-analysis.
Prenat Diagn
; 43(7): 838-853, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-37143173
10.
A cross-country comparison of pregnant women's decision-making and perspectives when opting for non-invasive prenatal testing in the Netherlands and Belgium.
Prenat Diagn
; 43(3): 294-303, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36740754
11.
TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands.
Am J Hum Genet
; 105(6): 1091-1101, 2019 12 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31708118
12.
Additional value of advanced ultrasonography in pregnancies with two inconclusive cell-free DNA draws.
Prenat Diagn
; 42(11): 1358-1367, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-36097374
13.
Circular RNA Sequencing of Maternal Platelets: A Novel Tool for the Identification of Pregnancy-Specific Biomarkers.
Clin Chem
; 67(3): 508-517, 2021 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33257975
14.
Association between low fetal fraction in cell-free DNA testing and adverse pregnancy outcome: A systematic review.
Prenat Diagn
; 41(10): 1287-1295, 2021 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-34350596
15.
Low fetal fraction in cell-free DNA testing is associated with adverse pregnancy outcome: Analysis of a subcohort of the TRIDENT-2 study.
Prenat Diagn
; 41(10): 1296-1304, 2021 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-34426993
16.
Uptake of fetal aneuploidy screening after the introduction of the non-invasive prenatal test: A national population-based register study.
Acta Obstet Gynecol Scand
; 100(7): 1265-1272, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33465829
17.
Non-invasive prenatal diagnosis for translocation carriers-YES please or NO go?
Acta Obstet Gynecol Scand
; 100(11): 2036-2043, 2021 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-34472080
18.
Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects.
Am J Hum Genet
; 100(1): 160-168, 2017 Jan 05.
Artigo
Inglês
| MEDLINE | ID: mdl-28041644
19.
Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study.
Am J Hum Genet
; 109(7): 1344, 2022 Jul 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35803237
20.
Use of Type 5 Single Nucleotide Polymorphisms Allows Noninvasive Prenatal Diagnosis for Consanguineous Families.
Clin Chem
; 70(5): 687-689, 2024 May 02.
Artigo
Inglês
| MEDLINE | ID: mdl-38592369