Myrthe van den Born
Overview
Explore the profile of Myrthe van den Born 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
Snapshot
Snapshot
Articles
18
Citations
139
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Diderich K, Bruggenwirth H, Joosten M, Thurik F, Mijalkovic J, Polak M, et al.
Prenat Diagn
. 2024 Sep;
44(12):1444-1450.
PMID: 39349395
Background: The aim of this study was to evaluate the diagnostic yield of routine exome sequencing (ES) in fetuses with ultrasound anomalies. Methods: We performed a retrospective analysis of the...
2.
Karayol R, Borroto M, Haghshenas S, Namasivayam A, Reilly J, Levy M, et al.
Am J Hum Genet
. 2024 May;
111(7):1330-1351.
PMID: 38815585
Epigenetic dysregulation has emerged as an important etiological mechanism of neurodevelopmental disorders (NDDs). Pathogenic variation in epigenetic regulators can impair deposition of histone post-translational modifications leading to aberrant spatiotemporal gene...
3.
Eggenhuizen G, Go A, Sauter Z, Hoffer M, Haak M, Geeven G, et al.
Prenat Diagn
. 2024 Feb;
44(3):289-296.
PMID: 38342960
Objective: To evaluate which cytogenetic characteristics of confined placental mosaicism (CPM) detected in the first trimester chorionic villi and/or placentas in terms of chromosome aberration, cell lineage involved and trisomy...
4.
Donze S, Srebniak M, Diderich K, van den Born M, Galjaard R, Govaerts L, et al.
Prenat Diagn
. 2023 Dec;
44(4):401-408.
PMID: 38141050
Objectives: Non-invasive prenatal testing (NIPT) allows the detection of placental chromosome aberrations. To verify whether the fetus also has the chromosome aberration, diagnostic follow-up testing is required. The aim of...
5.
Diderich K, Klapwijk J, van der Schoot V, van den Born M, Wilke M, Joosten M, et al.
Eur J Med Genet
. 2023 Nov;
67:104884.
PMID: 37972850
No abstract available.
6.
Diderich K, Klapwijk J, van der Schoot V, van den Born M, Wilke M, Joosten M, et al.
Eur J Med Genet
. 2023 Sep;
66(10):104844.
PMID: 37709011
Background: Although in general prenatal exome sequencing only reports (likely) pathogenic variants, in some cases a variant of uncertain significance (VUS) is disclosed. The aims of this retrospective study were...
7.
Van der Sluijs P, Joosten M, Alby C, Attie-Bitach T, Gilmore K, Dubourg C, et al.
Genet Med
. 2023 Feb;
25(2):100004.
PMID: 36745127
No abstract available.
8.
Chavli E, van den Born M, Eleveld C, Boter M, van Marion R, Hoefsloot L, et al.
Reprod Biomed Online
. 2022 Aug;
45(5):867-877.
PMID: 35963754
Research Question: What is the incidence of chromosomal mosaicism in human blastocysts and can a single trophectoderm (TE) biopsy accurately predict the chromosomal constitution of the inner cell mass (ICM)?...
9.
Reilly M, Ain N, Muurinen M, Tata A, Huber C, Simon M, et al.
J Bone Miner Res
. 2022 Jun;
37(9):1642-1652.
PMID: 35748595
Skeletal dysplasias comprise a large spectrum of mostly monogenic disorders affecting bone growth, patterning, and homeostasis, and ranging in severity from lethal to mild phenotypes. This study aimed to underpin...
10.
Van der Sluijs P, Joosten M, Alby C, Attie-Bitach T, Gilmore K, Dubourg C, et al.
Genet Med
. 2022 May;
24(8):1753-1760.
PMID: 35579625
Purpose: Genome-wide sequencing is increasingly being performed during pregnancy to identify the genetic cause of congenital anomalies. The interpretation of prenatally identified variants can be challenging and is hampered by...