Nicolette S den Hollander
Overview
Explore the profile of Nicolette S den Hollander including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
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Articles
23
Citations
945
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0
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Recent Articles
1.
Cetica V, Pisano T, Lesca G, Marafi D, Licchetta L, Riccardi F, et al.
Epilepsia
. 2024 Mar;
65(5):1439-1450.
PMID: 38491959
Objective: YWHAG variant alleles have been associated with a rare disease trait whose clinical synopsis includes an early onset epileptic encephalopathy with predominantly myoclonic seizures, developmental delay/intellectual disability, and facial...
2.
van Prooyen Schuurman L, Sistermans E, Van Opstal D, Henneman L, Bekker M, Bax C, et al.
Am J Hum Genet
. 2022 Jul;
109(7):1344.
PMID: 35803237
No abstract available.
3.
van Prooyen Schuurman L, Sistermans E, Van Opstal D, Henneman L, Bekker M, Bax C, et al.
Am J Hum Genet
. 2022 Jun;
109(6):1140-1152.
PMID: 35659929
In the TRIDENT-2 study, all pregnant women in the Netherlands are offered genome-wide non-invasive prenatal testing (GW-NIPT) with a choice of receiving either full screening or screening solely for common...
4.
Heesterbeek C, Aukema S, Galjaard R, Boon E, Srebniak M, Bouman K, et al.
J Clin Oncol
. 2022 Apr;
40(22):2426-2435.
PMID: 35394817
Purpose: Noninvasive prenatal testing (NIPT) for fetal aneuploidy screening using cell-free DNA derived from maternal plasma can incidentally raise suspicion for cancer. Diagnostic routing after malignancy suspicious-NIPT faces many challenges....
5.
van der Meij K, Sistermans E, Macville M, Stevens S, Bax C, Bekker M, et al.
Am J Hum Genet
. 2019 Nov;
105(6):1091-1101.
PMID: 31708118
The Netherlands launched a nationwide implementation study on non-invasive prenatal testing (NIPT) as a first-tier test offered to all pregnant women. This started on April 1, 2017 as the TRIDENT-2...
6.
de Koning M, Haak M, van Scheltema P, Peeters-Scholte C, Koopmann T, Nibbeling E, et al.
Genet Med
. 2019 Mar;
21(10):2303-2310.
PMID: 30918357
Purpose: Exome sequencing (ES) is an efficient tool to diagnose genetic disorders postnatally. Recent studies show that it may have a considerable diagnostic yield in fetuses with structural anomalies on...
7.
Van der Sluijs P, Jansen S, Vergano S, Adachi-Fukuda M, Alanay Y, Alkindy A, et al.
Genet Med
. 2019 Jan;
21(9):2160-2161.
PMID: 30696996
The original version of this Article contained an error in the spelling of the author Pleuntje J. van der Sluijs, which was incorrectly given as Eline (P. J.) van der...
8.
Van der Sluijs P, Aten E, Barge-Schaapveld D, Bijlsma E, Bokenkamp-Gramann R, Donker Kaat L, et al.
Genet Med
. 2018 Nov;
21(9):2159-2164.
PMID: 30464259
The original version of this Article contained an error in the spelling of the author Pleuntje J. van der Sluijs, which was incorrectly given as Eline (P. J.) van der...
9.
Van der Sluijs P, Jansen S, Vergano S, Adachi-Fukuda M, Alanay Y, Alkindy A, et al.
Genet Med
. 2018 Oct;
21(6):1295-1307.
PMID: 30349098
Purpose: Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically...
10.
Van der Sluijs P, Aten E, Barge-Schaapveld D, Bijlsma E, Bokenkamp-Gramann R, Donker Kaat L, et al.
Genet Med
. 2018 Oct;
21(5):1074-1082.
PMID: 30287924
Purpose: Several studies have reported diagnostic yields up to 57% for rapid exome or genome sequencing (rES/GS) as a single test in neonatal intensive care unit (NICU) patients, but the...