Associated Papers
Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency.
Maimaris J et al.
Journal of Clinical Immunology, 2024
Clinical Presentations, Diagnosis, and Genetic Features of Hemophagocytic Lymphohistiocytosis: A Single Institutional Experience With the Saudi Population.
Alradhi SI et al.
Cureus, 2024
Genetic background of primary and familial HLH in Qatar: registry data and population study.
Elgaali E et al.
Frontiers in Pediatrics, 2024
The clinical utility of rapid exome sequencing in a consanguineous population.
Monies D et al.
Genome Medicine, 2023
The First Korean Case of Griscelli Syndrome Type 2 With Hemophagocytic Lymphohistiocytosis and Partial Albinism.
Lee Y et al.
Annals of Laboratory Medicine, 2022
Genetic Landscape of Rare Autoinflammatory Disease Variants in Qatar and Middle Eastern Populations Through the Integration of Whole-Genome and Exome Datasets.
Sharma P et al.
Frontiers in Genetics, 2021
A founder RAB27A variant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families.
Al-Sulaiman R et al.
American Journal of Medical Genetics. Part A, 2020
Hematopoietic stem cell transplantation in children with Griscelli syndrome type 2: a single-center report on 35 patients.
Al-Mofareh M et al.
Bone Marrow Transplantation, 2020
Griscelli Syndrome Type 2 Sine Albinism: Unraveling Differential RAB27A Effector Engagement.
Ohishi Y et al.
Frontiers in Immunology, 2020
A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism.
Netter P et al.
The Journal of Allergy and Clinical Immunology, 2016
Select a paper to view details