Servi J C Stevens
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Explore the profile of Servi J C Stevens including associated specialties, affiliations and a list of published articles.
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56
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1390
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Recent Articles
1.
Janssen A, Koeck R, Essers R, Cao P, van Dijk W, Drusedau M, et al.
Nat Commun
. 2024 Sep;
15(1):7164.
PMID: 39223156
High-throughput sequencing technologies have increasingly led to discovery of disease-causing genetic variants, primarily in postnatal multi-cell DNA samples. However, applying these technologies to preimplantation genetic testing (PGT) in nuclear or...
2.
Essers R, Lebedev I, Kurg A, Fonova E, Stevens S, Koeck R, et al.
Nat Med
. 2023 Nov;
29(12):3233-3242.
PMID: 37996709
Pregnancy loss is often caused by chromosomal abnormalities of the conceptus. The prevalence of these abnormalities and the allocation of (ab)normal cells in embryonic and placental lineages during intrauterine development...
3.
Szakszon K, Lourenco C, Callewaert B, Genevieve D, Rouxel F, Morin D, et al.
J Med Genet
. 2023 Aug;
61(2):132-141.
PMID: 37580113
Background: Pathogenic variants in the zinc finger protein coding genes are rare causes of intellectual disability and congenital malformations. Mutations in the gene causing GDACCF syndrome (global developmental delay, absent...
4.
Olde Keizer R, Marouane A, Kerstjens-Frederikse W, Deden A, Lichtenbelt K, Jonckers T, et al.
Eur J Pediatr
. 2023 Mar;
182(6):2683-2692.
PMID: 36997769
Conclusion: Our findings demonstrate the clinical utility of rES for critically ill neonates based on increased diagnostic yield, shorter time to diagnosis, and net healthcare savings. Our observations warrant the...
5.
Faas B, Westra D, de Munnik S, van Rij M, Marcelis C, Joosten S, et al.
Prenat Diagn
. 2023 Jan;
43(4):527-543.
PMID: 36647814
Objective: We performed a 1-year evaluation of a novel strategy of simultaneously analyzing single nucleotide variants (SNVs), copy number variants (CNVs) and copy-number-neutral Absence-of-Heterozygosity from Whole Exome Sequencing (WES) data...
6.
Delanne J, Lecat M, Blackburn P, Klee E, Stumpel C, Stegmann S, et al.
Eur J Med Genet
. 2022 Nov;
66(1):104670.
PMID: 36414205
Background: Since the first description of a BRWD3-associated nonsydromic intellectual disability (ID) disorder in 2007, 21 additional families have been reported in the literature. Methods: Using exome sequencing (ES) and...
7.
van Dijk W, Derks K, Drusedau M, Meekels J, Koeck R, Essers R, et al.
Hum Reprod
. 2022 Sep;
37(11):2700-2708.
PMID: 36149256
Study Question: Can the embryo tracking system (ETS) increase safety, efficacy and scalability of massively parallel sequencing-based preimplantation genetic testing (PGT)? Summary Answer: Applying ETS-PGT, the chance of sample switching...
8.
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.
9.
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...
10.
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....