Next generation sequencing (NGS) interest in deciphering erythrocyte molecular defects' association in red cell disorders: Clinical and erythrocyte phenotypes of patients with mutations inheritance in PIEZO1, Spectrin ß1, RhAG and SLC4A1

Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients

(2021) Immacolata Andolfo et al.   Genes

The Molecular Basis for Altered Cation Permeability in Hereditary Stomatocytic Human Red Blood Cells

(2018) Joanna F. Flatt et al.   Frontiers in Physiology

VarSome: the human genomic variant search engine

(2018) Christos Kopanos et al.   BIOINFORMATICS

Red blood cell Gardos channel (KCNN4): the essential determinant of erythrocyte dehydration in hereditary xerocytosis

(2017) Raphaël Rapetti-Mauss et al.   HAEMATOLOGICA

Red cell membrane disorders

(2017) J. Narla et al.   International Journal of Laboratory Hematology

Red blood cell Gardos channel (KCNN4): the essential determinant of erythrocyte dehydration in hereditary xerocytosis

(2017) Raphaël Rapetti-Mauss et al.   HAEMATOLOGICA

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

(2016) Laura M. Amendola et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Diagnostic tool for red blood cell membrane disorders: Assessment of a new generation ektacytometer

(2016) Lydie Da Costa et al.   BLOOD CELLS MOLECULES AND DISEASES

Advances in understanding the pathogenesis of the red cell volume disorders

(2016) Catherine Badens et al.   BRITISH JOURNAL OF HAEMATOLOGY

New insights on hereditary erythrocyte membrane defects

(2016) Immacolata Andolfo et al.   HAEMATOLOGICA

New insights on hereditary erythrocyte membrane defects

(2016) Immacolata Andolfo et al.   HAEMATOLOGICA

Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis)

(2015) Immacolata Andolfo et al.   AMERICAN JOURNAL OF HEMATOLOGY

Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis

(2015) E. Glogowska et al.   BLOOD

A mutation in the Gardos channel is associated with hereditary xerocytosis

(2015) R. Rapetti-Mauss et al.   BLOOD

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Chemical activation of the mechanotransduction channel Piezo1

(2015) Ruhma Syeda et al.   eLife

Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1

(2013) I. Andolfo et al.   BLOOD

Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders

(2013) Lydie Da Costa et al.   BLOOD REVIEWS

Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels

(2013) Juliette Albuisson et al.   Nature Communications

Missense mutations in the ABCB6 transporter cause dominant familialpseudohyperkalemia

(2012) Immacolata Andolfo et al.   AMERICAN JOURNAL OF HEMATOLOGY

Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis

(2012) R. Zarychanski et al.   BLOOD

Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome

(2011) J. F. Flatt et al.   BLOOD

South-east Asian ovalocytosis and the cryohydrocytosis form of hereditary stomatocytosis show virtually indistinguishable cation permeability defects

(2011) Hélène Guizouarn et al.   BRITISH JOURNAL OF HAEMATOLOGY

Effects of elevated intracellular calcium on the osmotic fragility of human red blood cells

(2009) Anne Cueff et al.   CELL CALCIUM

A novel erythroid anion exchange variant (Gly796Arg) of hereditary stomatocytosis associated with dyserythropoiesis

(2009) A. Iolascon et al.   HAEMATOLOGICA

Red cell membrane: past, present, and future

(2008) N. Mohandas et al.   BLOOD

The monovalent cation leak in overhydrated stomatocytic red blood cells results from amino acid substitutions in the Rh-associated glycoprotein

(2008) L. J. Bruce et al.   BLOOD

Usefulness of the eosin-5'-maleimide cytometric method as a first-line screening test for the diagnosis of hereditary spherocytosis: comparison with ektacytometry and protein electrophoresis

(2008) François Girodon et al.   BRITISH JOURNAL OF HAEMATOLOGY

Hereditary spherocytosis

(2008) Silverio Perrotta et al.   LANCET