Ángeles Mencía - Concepedia

Concepedia

Author

Ángeles Mencía

Centre for Biomedical Network Research on Rare Diseases ORCID

Also Known As

A. Mencia, Angeles Mencia, Angeles Mencía, Angeles Mencía, Á. Mencía, Ángeles Mencía

35

Publications

1.5K

Citations

18

H-Index

43

Concepts

All Affiliations

Centre for Biomedical Network Research on Rare Diseases Universidad Carlos III de Madrid Hospital Universitario Fundación Jiménez Díaz Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas Hospital Universitario Ramón y Cajal

ÁM

About

Ángeles Mencía is an author at Centre for Biomedical Network Research on Rare Diseases specializing in medicine, developmental biology, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	8	8	899
2	Arts	4	4	746
3	Cell Biology	3	3	179
4	Cellular Physiology	1	1	53
5	Hearing Sciences	1	1	92

Ángeles Mencía

×

19

Publications

1.5K

Citations

18

H-Index

	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
Non-viral delivery of CRISPR–Cas9 complexes for targeted gene editing via a polymer delivery system Jonathan O’Keeffe Ahern, Irene Lara‐Sáez, Dezhong Zhou, Gene Therapy	2021	65
Gene Editing for the Efficient Correction of a Recurrent COL7A1 Mutation in Recessive Dystrophic Epidermolysis Bullosa Keratinocytes Cristina Chamorro, Ángeles Mencía, David Almarza, Molecular Therapy — Nucleic Acids	2016	57
Fibroblast activation and abnormal extracellular matrix remodelling as common hallmarks in three cancer‐prone genodermatoses Esteban Chacón-Solano, Carlos León, Fernando López Díaz, British Journal of Dermatology	2019	54
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

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