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Xènia Ferrer-Cortés

Observed names: X. Ferrer-Cortès, Xenia Ferrer-Cortès, Xènia Ferrer-Cortès, Xènia Ferrer‐Cortes, Xènia Ferrer‐Cortès
ORCID: 0000-0001-9091-900X
Observed ORCID: 0000-0001-9091-900X
OpenAlex ID: A5087718915
Mutations in the lipoyltransferaseLIPT1gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes
2013 · Frederic Tort, Xènia Ferrer-Cortès, et al. · Human Molecular Genetics · 95
Differential diagnosis of lipoic acid synthesis defects
2016 · Frederic Tort, Xènia Ferrer‐Cortes, et al. · Journal of Inherited Metabolic Disease · 62
Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria
2013 · Frederic Tort, María Teresa García-Silva, et al. · Molecular Genetics and Metabolism · 38
Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease
2012 · Xènia Ferrer‐Cortès, Aida Font, et al. · Journal of Inherited Metabolic Disease · 36
Effect of Readthrough Treatment in Fibroblasts of Patients Affected by Lysosomal Diseases Caused by Premature Termination Codons
2015 · Leslie Matalonga, Ángela Arias, et al. · Neurotherapeutics · 27
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Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology
2019 · Frederic Tort, Olatz Ugarteburu, et al. · Human Mutation · 26
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A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria
2021 · Sarah Ducamp, Sara Luscieti, et al. · Haematologica · 23
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A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis
2015 · Xènia Ferrer-Cortès, Juan Narbona, et al. · Mitochondrion · 23
Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease—Report of New Cases
2021 · Ferran Celma Nos, Gonzalo Hernández, et al. · International Journal of Molecular Sciences · 19
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New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis
2021 · Gonzalo Hernández, Xenia Ferrer-Cortès, et al. · Genes · 17
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Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution
2020 · Frederic Tort, Estibaliz Barredo, et al. · Molecular Genetics and Metabolism · 12
New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II
2023 · Melina Mara Musri, Veronica Venturi, et al. · International Journal of Molecular Sciences · 11
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Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III
2022 · Gonzalo Hernández, Lídia Romero-Cortadellas, et al. · Haematologica · 9
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The role of genetic testing in accurate diagnosis of X-linked sideroblastic anemia: novel ALAS2 mutations and the impact of X-chromosome inactivation
2025 · Daniel Jové-Solavera, Marta Rámila, et al. · Scientific Reports · 8
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New Cases of Hypochromic Microcytic Anemia Due to Mutations in the SLC11A2 Gene and Functional Characterization of the G75R Mutation
2022 · Lídia Romero-Cortadellas, Gonzalo Hernández, et al. · International Journal of Molecular Sciences · 8
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Autosomal Recessive Congenital Dyserythropoietic Anemia Type III Is Caused By Mutations in the Centralspindlin RACGAP1 Component
2021 · Lídia Romero-Cortadellas, Gonzalo Hernández, et al. · Blood · 6
Novel transferrin gene mutations in four new cases of congenital Atransferrinaemia: Functional and diagnostic pathogenicity despite negative bioinformatics
2024 · Lídia Romero‐Cortadellas, Xènia Ferrer‐Cortès, et al. · British Journal of Haematology · 1
S274: a Novel Subtype of Anemia Caused by Mutations in Tfrc Gene
2022 · S. Colucci, V. Venturi, et al. · HemaSphere · 1
Expanding the genetic spectrum of Diamond-Blackfan anemia: novel mutations in RPS19, RPL5, and RPS10
2026 · Laura Calvo-López, Sofía Bellalta, et al. · Blood Red Cells & Iron
P1431: Molecular Characterization and Lentiviral Correction of in Vitro Erythropoieis in Patients With a Novel Recessive Congenital Dyserythropoietic Anemia Type Iii (cda Type Iiib).
2022 · G. Hernández, L. Romero-Cortadellas, et al. · HemaSphere
A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis
2016 · Xènia Ferrer-Cortès, Juan Narbona, et al. · Newcastle University ePrints (Newcastle Univesity)
Works count: 21
Citation count: 422
H-index: 11
I10-index: 12
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