Suzanne C E H Sallevelt
Overview
Explore the profile of Suzanne C E H Sallevelt including associated specialties, affiliations and a list of published articles.
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26
Citations
437
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Recent Articles
1.
Rogers A, De Jong L, Waters W, Rawlings L, Simons K, Gao S, et al.
Aust N Z J Obstet Gynaecol
. 2024 Apr;
64(5):467-474.
PMID: 38577897
Background: Trio exome sequencing can be used to investigate congenital abnormalities identified on pregnancy ultrasound, but its use in an Australian context has not been assessed. Aims: Assess clinical outcomes...
2.
SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement
Bulthuis E, Adjobo-Hermans M, de Potter B, Hoogstraten S, Wezendonk L, Tutakhel O, et al.
Biochim Biophys Acta Mol Basis Dis
. 2023 Jul;
1869(8):166808.
PMID: 37454773
Ionic calcium (Ca) is a key messenger in signal transduction and its mitochondrial uptake plays an important role in cell physiology. This uptake is mediated by the mitochondrial Ca uniporter...
3.
Smeets H, Sallevelt S, Herbert M
Handb Clin Neurol
. 2023 Feb;
194:207-228.
PMID: 36813314
Mitochondrial diseases require customized approaches for reproductive counseling, addressing differences in recurrence risks and reproductive options. The majority of mitochondrial diseases is caused by mutations in nuclear genes and segregate...
4.
Knight L, Mullany S, Taranath D, Ruddle J, Barnett C, Sallevelt S, et al.
Mol Vis
. 2022 Oct;
28:257-268.
PMID: 36284667
Purpose: associated ectopia lentis is a rare autosomal recessive condition that is primarily associated with crystalline lens displacement. However, the prevalence of other ocular and systemic manifestations of this condition...
5.
Guo L, Engelen B, Hemel I, De Coo I, Vreeburg M, Sallevelt S, et al.
Eur J Hum Genet
. 2021 Aug;
29(12):1789-1795.
PMID: 34426662
In a Dutch non-consanguineous patient having mitochondrial encephalomyopathy with complex I and complex IV deficiency, whole exome sequencing revealed two compound heterozygous variants in SLIRP. SLIRP gene encodes a stem-loop...
6.
Sallevelt S, Stegmann A, de Koning B, Velter C, Steyls A, van Esch M, et al.
Genet Med
. 2021 Mar;
23(6):1125-1136.
PMID: 33742171
Purpose: Consanguineous couples are at increased risk of being heterozygous for the same autosomal recessive (AR) disorder(s), with a 25% risk of affected offspring as a consequence. Until recently, comprehensive...
7.
Teunissen M, Kamsteeg E, Sallevelt S, Pennings M, Bauer N, Vermeulen R, et al.
Neurol Genet
. 2021 Mar;
7(2):e564.
PMID: 33709034
Objective: We describe a third patient with brain small vessel disease 3 (BSVD3), being the first with a homozygous essential splice site variant in the gene, with a more severe...
8.
Deden C, Neveling K, Zafeiropopoulou D, Gilissen C, Pfundt R, Rinne T, et al.
Prenat Diagn
. 2020 Apr;
40(8):972-983.
PMID: 32333414
Objective: The purpose of this study was to explore the diagnostic yield and clinical utility of trio-based rapid whole exome sequencing (rWES) in pregnancies of fetuses with a wide range...
9.
Westra D, Schouten M, Stunnenberg B, Kusters B, Saris C, Erasmus C, et al.
J Neuromuscul Dis
. 2019 May;
6(2):241-258.
PMID: 31127727
Background: Neuromuscular disorders (NMDs) are clinically and genetically heterogeneous. Accurate molecular genetic diagnosis can improve clinical management, provides appropriate genetic counseling and testing of relatives, and allows potential therapeutic trials....
10.
Van der Sluijs P, Jansen S, Vergano S, Adachi-Fukuda M, Alanay Y, Alkindy A, et al.
Genet Med
. 2019 Jan;
21(9):2160-2161.
PMID: 30696996
The original version of this Article contained an error in the spelling of the author Pleuntje J. van der Sluijs, which was incorrectly given as Eline (P. J.) van der...