Maaike Kusters
Overview
Explore the profile of Maaike Kusters including associated specialties, affiliations and a list of published articles.
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Snapshot
Articles
6
Citations
43
Followers
0
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Recent Articles
1.
Maimaris J, Roa-Bautista A, Sohail M, Booth C, Cugno C, Chenchara L, et al.
J Clin Immunol
. 2024 Nov;
45(1):50.
PMID: 39607447
Griscelli syndrome type 2 (GS2) is a rare, life-threatening immunodysregulatory disorder characterised by impaired cytotoxic activity leading to susceptibility to haemophagocytic lymphohistiocytosis (HLH) and hypopigmentation. We completed a literature review...
2.
Danis D, Bamshad M, Bridges Y, Caballero-Oteyza A, Cacheiro P, Carmody L, et al.
HGG Adv
. 2024 Oct;
6(1):100371.
PMID: 39394689
The Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema was released in 2022 and approved by ISO as a standard for sharing clinical and genomic information about an individual,...
3.
Danis D, Bamshad M, Bridges Y, Cacheiro P, Carmody L, Chong J, et al.
medRxiv
. 2024 Jun;
PMID: 38854034
The Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema was released in 2022 and approved by ISO as a standard for sharing clinical and genomic information about an individual,...
4.
Hadzic N, Deheragoda M, Worth A, Bansal S, Samyn M, Kusters M
N Engl J Med
. 2024 Jan;
390(3):284-286.
PMID: 38231631
No abstract available.
5.
Gargano M, Matentzoglu N, Coleman B, Addo-Lartey E, Anagnostopoulos A, Anderton J, et al.
Nucleic Acids Res
. 2023 Nov;
52(D1):D1333-D1346.
PMID: 37953324
The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses...
6.
Roa-Bautista A, Sohail M, Wakeling E, Gilmour K, Davis M, Gait A, et al.
Front Immunol
. 2023 Jun;
14:1186575.
PMID: 37377976
Background: Sphingosine phosphate lyase insufficiency syndrome (SPLIS) is associated with biallelic variants in , comprising a multisystemic disease characterized by steroid resistant nephrotic syndrome, primary adrenal insufficiency, neurological problems, skin...