Associated Papers
A Male Child With Combined Glucose-6-Phosphate Dehydrogenase Deficiency and Hereditary Elliptocytosis: The First Case Reported From Saudi Arabia.
Alasmari BG et al.
Cureus, 2025
Hereditary elliptocytosis in a child with an autosomal recessive SPTA1 mutation: a case report from Saudi Arabia.
Alamr F
Journal of Medicine and Life, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Homozygous α-Spectrin (SPTA1) Variant Causing Persistent Hereditary Pyropoikilocytosis in a Newborn: A Case Report and Literature Review.
Sayed J et al.
International Medical Case Reports Journal, 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Uncovering the Genetic Etiology of Inherited Bone Marrow Failure Syndromes Using a Custom-Designed Next-Generation Sequencing Panel.
Lin F et al.
The Journal of Molecular Diagnostics : Jmd, 2024
Molecular insights into hereditary elliptocytosis and pyropoikilocytosis: NGS uncovers multiple potential candidate genes.
Shome DK et al.
Annals of Hematology, 2023
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
The spectrin-based membrane skeleton is asymmetric and remodels during neural development in C. elegans.
Jia R et al.
Journal of Cell Science, 2020
Aberrant Membrane Composition and Biophysical Properties Impair Erythrocyte Morphology and Functionality in Elliptocytosis.
Pollet H et al.
Biomolecules, 2020
Exome sequencing for diagnosis of congenital hemolytic anemia.
Mansour-Hendili L et al.
Orphanet Journal of Rare Diseases, 2020
Coinheritance of hereditary ellyptocytosis, pyruvate kinase, and glucose-6-phosphate dehidrogenase mutations. A rare anemia diagnostic paradigm.
Krishnevskaya E et al.
International Journal of Laboratory Hematology, 2020
Aberrant splicing contributes to severe α-spectrin-linked congenital hemolytic anemia.
Gallagher PG et al.
The Journal of Clinical Investigation, 2019
Understanding pathogenic single-nucleotide polymorphisms in multidomain proteins--studies of isolated domains are not enough.
Randles LG et al.
The Febs Journal, 2013
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Association of the alpha-spectrin R28H mutation with allele alphaLELY and with alphaI/alphaII domain haplotypes in three Brazilian families.
Bassères DS et al.
European Journal of Haematology, 2000