Silvia Modamio‐Høybjør

Author

Hospital Universitario Ramón y Cajal ORCID

Also Known As

S Modamio-Hybjr, S Modamio-Høybjør, S. Modamio, S. Modamio-Hoybjor, S. Modamio-Høybjør, Silvia Modamio, Silvia Modamio-Hoybjor, Silvia Modamio-Høybjør, Silvia Modamio‐Høybjor, Silvia Modamio‐Høybjør

Publications

1.2K

Citations

H-Index

Concepts

All Affiliations

Hospital Universitario Ramón y Cajal Centre for Biomedical Network Research on Rare Diseases University of Sussex Instituto Cajal Instituto de Salud Carlos III

About

Silvia Modamio‐Høybjør is an author at Hospital Universitario Ramón y Cajal specializing in medicine, developmental biology, and audiology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	6	6	817
2	Arts	4	4	746
3	Cell Biology	2	2	127
4	Cellular Physiology	1	1	53
5	Hearing Sciences	1	1	92

Silvia Modamio‐Høybjør

Publications

1.1K

Citations

H-Index

Page 1

	Year	Citations
Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss Ángeles Mencía, Silvia Modamio‐Høybjør, Nick Redshaw, Nature Genetics Developmental BiologyGeneticsAudiologySeed RegionArts	2009	548
Clinically Relevant Correction of Recessive Dystrophic Epidermolysis Bullosa by Dual sgRNA CRISPR/Cas9-Mediated Gene Editing José Bonafont, Ángeles Mencía, Marta García, Molecular Therapy	2019	103
DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss Michael S. Hildebrand, Matías Morin, Nicole C. Meyer, Human Mutation GeneticsGenetic EpidemiologyPathologyNeurotologyMolecular Genetics	2011	92
In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment Matías Morin, Keith E. Bryan, Fernando Mayo, Human Molecular Genetics	2009	77
A Mutation in CCDC50, a Gene Encoding an Effector of Epidermal Growth Factor–Mediated Cell Signaling, Causes Progressive Hearing Loss Silvia Modamio‐Høybjør, Ángeles Mencía, Richard J. Goodyear, The American Journal of Human Genetics Developmental BiologySignal TransductionSignaling PathwayCell RegulationAudiology	2007	74
Differential Biological Role of CD3 Chains Revealed by Human Immunodeficiencies María J. Recio, Miguel A. Moreno‐Pelayo, Alberto C. Guardo, The Journal of Immunology	2007	74
A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression Ángeles Mencía, Daniel González‐Nieto, Silvia Modamio‐Høybjør, Human Genetics Signal TransductionMolecular NeuroscienceMolecular PhysiologyHyperpolarization (Biology)Molecular Biology	2007	53
A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28-29 Silvia Modamio‐Høybjør, Miguel A. Moreno‐Pelayo, Ángeles Mencía, Human Genetics Developmental BiologyMendelian DisorderGenetic DisorderGeneticsAudiology	2003	32
High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies Lucia Sentchordi, Sara Benito‐Sanz, Miriam Aza‐Carmona, European Journal of Endocrinology	2021	22
Characterization of a Spontaneous, Recessive, Missense Mutation Arising in the Tecta Gene Miguel A. Moreno‐Pelayo, Richard J. Goodyear, Ángeles Mencía, Journal of the Association for Research in Otolaryngology Developmental BiologyMendelian DisorderTecta GeneGenetic DisorderGenetics	2008	18

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