Erik-Jan Kamsteeg
Overview
Explore the profile of Erik-Jan Kamsteeg 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
169
Citations
3904
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Malaichamy S, Idoux R, Polavarapu K, Sikic K, Holla E, Thompson R, et al.
Brain
. 2025 Feb;
PMID: 39970126
Rhabdomyolysis is an acute failure of cellular homeostasis resulting in muscle breakdown, triggered by trauma, infection, drugs, or strenuous exercise. Recurrent rhabdomyolysis is often associated with genetic and metabolic defects...
2.
Bersselaar L, Schiemann A, Yang C, Voermans N, Malagon I, Scheffer G, et al.
Br J Anaesth
. 2025 Jan;
PMID: 39890490
Background: Malignant hyperthermia (MH) susceptibility is associated with variants in RYR1, the gene encoding the skeletal muscle ryanodine receptor-1 (RyR1), in 70-75% of patients. Functional characterisation demonstrating an increased sensitivity...
3.
Coppens S, Deconinck N, Sullivan P, Smolnikov A, Clayton J, Griffin K, et al.
Ann Neurol
. 2025 Jan;
97(4):611-628.
PMID: 39853809
Objective: To better understand the presentation and clinical needs of the under-characterized extreme end of the congenital titinopathy severity spectrum. Methods: We comprehensively analyzed the clinical, imaging, pathology, autopsy, and...
4.
Laurie S, Steyaert W, de Boer E, Polavarapu K, Schuermans N, Sommer A, et al.
Nat Med
. 2025 Jan;
31(2):478-489.
PMID: 39825153
Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource,...
5.
Wong T, Manuputty J, van Seeters T, Kamsteeg E, van de Warrenburg B
Cerebellum
. 2025 Jan;
24(2):32.
PMID: 39821862
Repeat expansions in the fibroblast growth factor 14 gene (FGF14), associated with spinocerebellar ataxia type 27B (SCA27B), have emerged as a prevalent cause of previously unexplained late-onset cerebellar ataxia. Here,...
6.
Lessel I, Baresic A, Chinn I, May J, Goenka A, Chandler K, et al.
Am J Hum Genet
. 2025 Jan;
112(2):394-413.
PMID: 39798569
BCL11B is a Cys2-His2 zinc-finger (C2H2-ZnF) domain-containing, DNA-binding, transcription factor with established roles in the development of various organs and tissues, primarily the immune and nervous systems. BCL11B germline variants...
7.
van Kleef E, Bouman K, Molenaar J, Kusters B, Groothuis J, Olive M, et al.
Neurol Genet
. 2024 Dec;
10(6):e200214.
PMID: 39651462
Background And Objectives: Nemaline myopathy type 6 (NEM6) is the most prevalent type of nemaline myopathy in the Netherlands. Because a detailed clinical characterization is not available yet, we here...
8.
Zhang Y, Hulsman M, Salazar A, Tesi N, Tesi N, Knoop L, et al.
Genome Res
. 2024 Nov;
PMID: 39537359
Tandem repeats (TRs) occupy a significant portion of the human genome and are a source of polymorphisms due to variations in sizes and motif compositions. Some of these variations have...
9.
Tesi N, Salazar A, Zhang Y, van der Lee S, Hulsman M, Knoop L, et al.
Genome Res
. 2024 Oct;
34(11):1942-1953.
PMID: 39406499
Tandem repeats (TRs) play important roles in genomic variation and disease risk in humans. Long-read sequencing allows for the accurate characterization of TRs; however, the underlying bioinformatics perspectives remain challenging....
10.
Schobers G, Pennings M, de Vries J, Kwint M, van Reeuwijk J, Galbany J, et al.
Eur J Hum Genet
. 2024 Sep;
33(1):56-64.
PMID: 39333430
Clinical exome sequencing (ES) has facilitated genetic diagnosis in individuals with a rare genetic disorder by analysis of all protein-coding sequences in a single experiment. However, in 40-60% of patients,...