Associated Papers
Clinical Characteristics and Gene Mutations of Hereditary Spherocytosis in 59 Chinese Children.
Li Y et al.
Molecular Genetics & Genomic Medicine, 2026
Genetic Analysis of 23 SNVs of Nine Genes Involved in RBC Membranopathies with the Hematological Parameters of Mexican Patients.
Espinoza-Mata LL et al.
Genetic Testing and Molecular Biomarkers, 2026
Current Status of Molecular Diagnosis of Hereditary Hemolytic Anemia in Korea.
Chueh HW et al.
Journal of Korean Medical Science, 2024
Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.
Álvarez-Prado ÁF et al.
Cell Reports. Medicine, 2023
The use of next-generation sequencing in the diagnosis of rare inherited anaemias: A Joint BSH/EHA Good Practice Paper.
Roy NBA et al.
British Journal of Haematology, 2022
The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper.
Roy NBA et al.
Hemasphere, 2022
Facilitating EMA binding test performance using fluorescent beads combined with next-generation sequencing.
Glenthøj A et al.
Ejhaem, 2021
Common host variation drives malaria parasite fitness in healthy human red cells.
Ebel ER et al.
Elife, 2021
Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients.
Andolfo I et al.
Genes, 2021
Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study.
Fermo E et al.
Frontiers in Physiology, 2021
Aberrant splicing contributes to severe α-spectrin-linked congenital hemolytic anemia.
Gallagher PG et al.
The Journal of Clinical Investigation, 2019
KLF1 E325K-associated Congenital Dyserythropoietic Anemia Type IV: Insights Into the Variable Clinical Severity.
Ravindranath Y et al.
Journal of Pediatric Hematology/oncology, 2018
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.
Tang D et al.
Scientific Reports, 2018
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y et al.
Molecular Genetics & Genomic Medicine, 2014
Comprehensive characterization of human genome variation by high coverage whole-genome sequencing of forty four Caucasians.
Shen H et al.
Plos One, 2013
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
The molecular basis of hereditary red cell membrane disorders.
Delaunay J
Blood Reviews, 2007
A novel splicing mutation of the alpha-spectrin gene in the original hereditary pyropoikilocytosis kindred.
Costa DB et al.
Blood, 2005
Coinheritance of two alpha-spectrin gene defects in a recessive spherocytosis family.
Dhermy D et al.
Clinical and Laboratory Haematology, 2000
Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis.
Maillet P et al.
Human Mutation, 1996
Molecular genetics of hereditary elliptocytosis and hereditary spherocytosis.
Delaunay J et al.
Annales De Genetique, 1996
Patient-derived glioblastoma organoids reflect tumor heterogeneity and treatment sensitivity.
Verduin M et al.
Neuro-oncology Advances, 0