Ivon Cuscó - Concepedia

Author

Ivon Cuscó

Centre for Biomedical Network Research on Rare Diseases ORCID

Also Known As

I Cuscó, I. Cusco, I. Cuscó, I. Cuscó, Ivon Cusco, Ivon Cuscò, Ivon Cuscó, Ivon Cuscó (91141), Ivón Cuscó

Publications

2.9K

Citations

H-Index

Concepts

All Affiliations

Centre for Biomedical Network Research on Rare Diseases Universitat Pompeu Fabra Vall d'Hebron Hospital Universitari Vall d'Hebron Institut de Recerca Centro de Investigación Biomédica en Red

About

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

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	13	15	1.3K
2	Public Health	3	3	532
3	Engineering	1	1	41
4	Health Sciences	1	1	51
5	Social Sciences	1	1	44

Ivon Cuscó

Publications

2.7K

Citations

H-Index

Page 1

	Year	Citations
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, Neuromuscular Disorders Sma TypeClinical EpidemiologyGenetic EpidemiologyUnrelated Spanish PatientsPublic Health	2018	486
Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond Guillem de Valles‐Ibáñez, Ana Esteve‐Solé, M. Piquer, Frontiers in Immunology	2018	151
DNA methylation abnormalities in congenital heart disease Clara Serra‐Juhé, Ivon Cuscó, Aïda Homs, Epigenetics Epigenetic ChangeGeneticsDna MethylationPathologyMolecular Genetics	2015	137
Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders Marta Codina‐Solà, Benjamín Rodríguez‐Santiago, Aïda Homs, Molecular Autism	2015	134
Defective minor spliceosome <scp>mRNA</scp> processing results in isolated familial growth hormone deficiency Jesús Argente, Raquel Flores, Armand Gutiérrez‐Arumí, EMBO Molecular Medicine	2014	115
Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder Ivon Cuscó, Aida Medrano, Blanca Gener, Human Molecular Genetics Autism Spectrum DisordersGeneticsMolecular BiologyDisease Gene IdentificationGenomics	2009	115
SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings Ivon Cuscó, M. J. Barceló, Ricard Rojas‐García, Journal of Neurology Smn2 Copy NumberGenetic DisorderGeneticsGenetic EpidemiologyDegenerative Disease	2005	111
<i><scp>MLL2</scp></i> mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study Periklis Makrythanasis, Bregje W.M. van Bon, Marloes Steehouwer, Clinical Genetics Mendelian DisorderAutoimmune DiseaseGenetic DisorderMedicineGenetics	2013	102
bigSCale: an analytical framework for big-scale single-cell data Giovanni Iacono, Elisabetta Mereu, Amy Guillaumet-Adkins, Genome Research	2018	92
New Population and Phylogenetic Features of the Internal Variation within Mitochondrial DNA Macro-Haplogroup R0 Vanesa Ãlvarez-Iglesias, Ana Mosquera‐Miguel, María Cerezo, PLoS ONE	2009	88

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