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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.
Article
in English
| MEDLINE | ID: mdl-35659929
2.
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.
Article
in English
| MEDLINE | ID: mdl-37743782
3.
The role of confined placental mosaicism in fetal growth restriction: A retrospective cohort study.
Prenat Diagn
; 44(3): 289-296, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38342960
4.
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.
Article
in English
| MEDLINE | ID: mdl-38141050
5.
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.
Article
in English
| MEDLINE | ID: mdl-36727596
6.
Prenatal ultrasound finding of atypical genitalia: Counseling, genetic testing and outcomes.
Prenat Diagn
; 43(2): 162-182, 2023 02.
Article
in English
| MEDLINE | ID: mdl-35808910
7.
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
J Med Genet
; 59(10): 965-975, 2022 Oct.
Article
in English
| MEDLINE | ID: mdl-34930816
8.
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.
Article
in English
| MEDLINE | ID: mdl-31708118
9.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 24(8): 1753-1760, 2022 08.
Article
in English
| MEDLINE | ID: mdl-35579625
10.
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.
Genet Med
; 24(1): 179-191, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34906456
11.
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.
Article
in English
| MEDLINE | ID: mdl-34671974
12.
How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies.
Clin Genet
; 100(6): 647-658, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34155632
13.
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.
Article
in English
| MEDLINE | ID: mdl-33249554
14.
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.
Article
in English
| MEDLINE | ID: mdl-32638447
15.
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.
Article
in English
| MEDLINE | ID: mdl-35803237
16.
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.
Article
in English
| MEDLINE | ID: mdl-32333414
17.
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.
Article
in English
| MEDLINE | ID: mdl-32306377
18.
Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype.
Prenat Diagn
; 39(11): 1016-1025, 2019 10.
Article
in English
| MEDLINE | ID: mdl-31321790
19.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 25(2): 100004, 2023 Feb.
Article
in English
| MEDLINE | ID: mdl-36745127
20.
Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?
Prenat Diagn
; 38(12): 911-919, 2018 11.
Article
in English
| MEDLINE | ID: mdl-30187503