Eddy N de Boer
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Explore the profile of Eddy N de Boer including associated specialties, affiliations and a list of published articles.
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14
Citations
234
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Recent Articles
1.
de Boer E, Corsten-Janssen N, Wierenga E, Bijma T, Knapper J, Meerman G, et al.
Diagnostics (Basel)
. 2025 Feb;
15(3).
PMID: 39941316
In prenatal genetic diagnostics, the detection of single-gene defects relies on chorionic villus sampling (CVS) and amniocentesis, which carry a miscarriage risk of 0.2-0.3%. To mitigate this risk, fetal trophoblasts...
2.
Ghorbani F, de Boer E, Fokkens M, de Boer-Bergsma J, Verschuuren-Bemelmans C, Wierenga E, et al.
Int J Mol Sci
. 2024 Oct;
25(20).
PMID: 39456985
Currently, routine diagnostics for spinocerebellar ataxia (SCA) look for polyQ repeat expansions and conventional variations affecting the proteins encoded by known SCA genes. However, ~40% of the patients still remain...
3.
de Boer E, Vroom V, Scheper A, Johansson L, Bosscher L, Rietema N, et al.
Sci Rep
. 2024 Apr;
14(1):8508.
PMID: 38605095
Leukemias are genetically heterogeneous and diagnostics therefore includes various standard-of-care (SOC) techniques, including karyotyping, SNP-array and FISH. Optical genome mapping (OGM) may replace these as it detects different types of...
4.
Kiewiet G, Westra D, de Boer E, van Berkel E, Hofste T, van Zweeden M, et al.
Int J Neonatal Screen
. 2024 Mar;
10(1).
PMID: 38535124
In this study, we compare next-generation sequencing (NGS) approaches (targeted panel (tNGS), whole exome sequencing (WES), and whole genome sequencing (WGS)) for application in newborn screening (NBS). DNA was extracted...
5.
Ghorbani F, de Boer E, Benjamins-Stok M, Verschuuren-Bemelmans C, Knapper J, de Boer-Bergsma J, et al.
Neurol Genet
. 2023 Dec;
9(1):e200050.
PMID: 38058854
Background And Objectives: The spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of neurodegenerative disorders generally caused by single nucleotide variants (SNVs) or indels in coding regions or by repeat...
6.
Ghorbani F, de Boer-Bergsma J, Verschuuren-Bemelmans C, Pennings M, de Boer E, Kremer B, et al.
J Neurol
. 2022 Jul;
269(11):6086-6093.
PMID: 35864213
Recently, an intronic biallelic (AAGGG) repeat expansion in RFC1 was shown to be a cause of CANVAS and adult-onset ataxia in multiple populations. As the prevalence of the RFC1 repeat...
7.
de Lange K, de Boer E, Bosga A, Alimohamed M, Johansson L, Mulder A, et al.
Clin Chem
. 2020 Dec;
66(12):1521-1530.
PMID: 33257979
Background: Patients with hematological malignancies (HMs) carry a wide range of chromosomal and molecular abnormalities that impact their prognosis and treatment. Since no current technique can detect all relevant abnormalities,...
8.
de Boer E, Johansson L, de Lange K, Bosga-Brouwer A, van den Berg E, Sikkema-Raddatz B, et al.
Clin Chem
. 2020 Jul;
66(8):1084-1092.
PMID: 32613252
Background: Measuring minimal residual disease (MRD), the persistence of leukemic cells after treatment, is important for monitoring leukemia recurrence. The current methods for monitoring MRD are flow cytometry, to assess...
9.
de Boer E, van der Wouden P, Johansson L, van Diemen C, Haisma H
Gene Ther
. 2019 Jul;
26(7-8):338-346.
PMID: 31296934
Gene doping confers health risks for athletes and is a threat to fair competition in sports. Therefore the anti-doping community has given attention on its detection. Previously published polymerase chain...
10.
Johansson L, de Weerd H, de Boer E, van Dijk F, Meerman G, Sijmons R, et al.
BMC Bioinformatics
. 2018 Dec;
19(1):531.
PMID: 30558531
Background: Various algorithms have been developed to predict fetal trisomies using cell-free DNA in non-invasive prenatal testing (NIPT). As basis for prediction, a control group of non-trisomy samples is needed....