Stefan H Lelieveld
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Explore the profile of Stefan H Lelieveld including associated specialties, affiliations and a list of published articles.
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20
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986
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Recent Articles
1.
van der Ham C, Suurenbroek L, Kleisman M, Antic Z, Lelieveld S, Yeong M, et al.
Leukemia
. 2024 Sep;
38(11):2366-2375.
PMID: 39232206
Pediatric acute lymphoblastic leukemia (ALL) is marked by low mutational load at initial diagnosis, which increases at relapse. To determine which processes are active in (relapsed) ALL and how they...
2.
Antic Z, Yu J, Bornhauser B, Lelieveld S, van der Ham C, van Reijmersdal S, et al.
Pediatr Blood Cancer
. 2021 Oct;
69(1):e29361.
PMID: 34597466
Introduction: One-quarter of the relapses in children with B-cell precursor acute lymphoblastic leukemia (BCP-ALL) occur very early (within 18 months, before completion of treatment), and prognosis in these patients is...
3.
Antic Z, Lelieveld S, van der Ham C, Sonneveld E, Hoogerbrugge P, Kuiper R
Genes (Basel)
. 2021 Feb;
12(2).
PMID: 33540666
Pediatric acute lymphoblastic leukemia (ALL) is the most common pediatric malignancy and is characterized by clonal heterogeneity. Genomic mutations can increase proliferative potential of leukemic cells and cause treatment resistance....
4.
Kaplanis J, Samocha K, Wiel L, Zhang Z, Arvai K, Eberhardt R, et al.
Nature
. 2020 Oct;
586(7831):757-762.
PMID: 33057194
De novo mutations in protein-coding genes are a well-established cause of developmental disorders. However, genes known to be associated with developmental disorders account for only a minority of the observed...
5.
Arts P, Simons A, AlZahrani M, Yilmaz E, Alidrissi E, van Aerde K, et al.
Genome Med
. 2019 Jun;
11(1):38.
PMID: 31203817
Background: Diagnosis of primary immunodeficiencies (PIDs) is complex and cumbersome yet important for the clinical management of the disease. Exome sequencing may provide a genetic diagnosis in a significant number...
6.
Olson H, Jean-Marcais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag P, et al.
Am J Hum Genet
. 2018 Oct;
103(4):631.
PMID: 30290155
No abstract available.
7.
Wesdorp M, de Koning Gans P, Schraders M, Oostrik J, Huynen M, Venselaar H, et al.
Hum Genet
. 2018 May;
137(5):389-400.
PMID: 29754270
Unraveling the causes and pathomechanisms of progressive disorders is essential for the development of therapeutic strategies. Here, we identified heterozygous pathogenic missense variants of LMX1A in two families of Dutch...
8.
Olson H, Jean-Marcais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag P, et al.
Am J Hum Genet
. 2018 Apr;
102(5):995-1007.
PMID: 29656858
Developmental and epileptic encephalopathies (DEEs) represent a large clinical and genetic heterogeneous group of neurodevelopmental diseases. The identification of pathogenic genetic variants in DEEs remains crucial for deciphering this complex...
9.
Lelieveld S, Wiel L, Venselaar H, Pfundt R, Vriend G, Veltman J, et al.
Am J Hum Genet
. 2017 Sep;
101(3):478-484.
PMID: 28867141
Haploinsufficiency (HI) is the best characterized mechanism through which dominant mutations exert their effect and cause disease. Non-haploinsufficiency (NHI) mechanisms, such as gain-of-function and dominant-negative mechanisms, are often characterized by...
10.
Haer-Wigman L, van Zelst-Stams W, Pfundt R, van den Born L, Klaver C, Verheij J, et al.
Eur J Hum Genet
. 2017 Feb;
25(5):591-599.
PMID: 28224992
Inherited eye disorders have a large clinical and genetic heterogeneity, which makes genetic diagnosis cumbersome. An exome-sequencing approach was developed in which data analysis was divided into two steps: the...