Detalhe da pesquisa
1.
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
em Inglês
| MEDLINE | ID: mdl-35659929
2.
Re-analysis of whole genome sequencing ends a diagnostic odyssey: Case report of an RNU4-2 related neurodevelopmental disorder.
Clin Genet
; 2024 Jun 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38859706
3.
De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.
Am J Med Genet A
; 194(1): 17-30, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37743782
4.
The role of confined placental mosaicism in fetal growth restriction: A retrospective cohort study.
Prenat Diagn
; 44(3): 289-296, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38342960
5.
Exome sequencing in fetuses with congenital diaphragmatic hernia in a nationwide cohort.
Prenat Diagn
; 2024 Jun 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38862387
6.
Limited additional value of karyotyping cultured amniotic fluid cell colonies in addition to microarray on uncultured cells for confirmation of abnormal non-invasive prenatal testing results.
Prenat Diagn
; 44(4): 401-408, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38141050
7.
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
8.
Pathogenic variants in CLXN encoding the outer dynein arm docking-associated calcium-binding protein calaxin cause primary ciliary dyskinesia.
Genet Med
; 25(5): 100798, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36727596
9.
Prenatal ultrasound finding of atypical genitalia: Counseling, genetic testing and outcomes.
Prenat Diagn
; 43(2): 162-182, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35808910
10.
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
J Med Genet
; 59(10): 965-975, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34930816
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
em Inglês
| MEDLINE | ID: mdl-31708118
12.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 24(8): 1753-1760, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35579625
13.
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.
Genet Med
; 24(1): 179-191, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906456
14.
The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene.
Clin Genet
; 101(2): 183-189, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34671974
15.
How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies.
Clin Genet
; 100(6): 647-658, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34155632
16.
The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies.
Acta Obstet Gynecol Scand
; 100(6): 1106-1115, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33249554
17.
Parental experiences of uncertainty following an abnormal fetal anomaly scan: Insights using Han's taxonomy of uncertainty.
J Genet Couns
; 30(1): 198-210, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32638447
18.
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
em Inglês
| MEDLINE | ID: mdl-35803237
19.
Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging.
Prenat Diagn
; 40(8): 972-983, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32333414
20.
Nuchal translucency of 3.0-3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review.
Acta Obstet Gynecol Scand
; 99(6): 765-774, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32306377