Concepedia

Ivon Cuscó

IC

42

Publications

2.7K

Citations

29

H-Index

2001

Active since

Affiliations

Centre for Biomedical Network Research on Rare Diseases(Current)

Universitat Pompeu Fabra

Vall d'Hebron Hospital Universitari

Vall d'Hebron Institut de Recerca

Centro de Investigación Biomédica en Red

Ivon Cuscó is an author at Centre for Biomedical Network Research on Rare Diseases specializing in medicine, genetics, and genetic epidemiology.

ORCID

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Publications per year

2001–2023

42

Publications

42

Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases

Maite Calucho, Sara Bernal, Laura Alías et al. · Neuromuscular Disorders · 2018 · 486 citations

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Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond

Guillem de Valles‐Ibáñez, Ana Esteve‐Solé, M. Piquer et al. · Frontiers in Immunology · 2018 · 151 citations · Full text

DNA methylation abnormalities in congenital heart disease

Clara Serra‐Juhé, Ivon Cuscó, Aïda Homs et al. · Epigenetics · 2015 · 137 citations · Full text

, , +19

Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders

Marta Codina‐Solà, Benjamín Rodríguez‐Santiago, Aïda Homs et al. · Molecular Autism · 2015 · 134 citations · Full text

Defective minor spliceosome <scp>mRNA</scp> processing results in isolated familial growth hormone deficiency

Jesús Argente, Raquel Flores, Armand Gutiérrez‐Arumí et al. · EMBO Molecular Medicine · 2014 · 115 citations · Full text

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