Miguel Ángel López-Martínez

Author

Hospital Universitario Fundación Jiménez Díaz

Also Known As

Esther Lantero, M A. Lopez-Martinez, M López-Martinez, M. A. López-Martínez, Miguel A. Lopez-Martinez, Miguel Angel Lopez-Martinez, Miguel Ángel Lopez-Martinez, Miguel Ángel LÓPEZ-MARTÍNEZ, Miguel Ángel López-Martínez

Publications

789

Citations

H-Index

Concepts

All Affiliations

Hospital Universitario Fundación Jiménez Díaz Centre for Biomedical Network Research on Rare Diseases Instituto de Salud Carlos III Universidad Autónoma de Madrid Radboud University Medical Center

MÁ

About

Miguel Ángel López-Martínez is an author at Hospital Universitario Fundación Jiménez Díaz specializing in medicine, ophthalmology, and cell biology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	3	3	165
2	Education	1	1	42
3	Nursing	1	1	42
4	Public Health	1	1	46
5	Cell Biology	1	1	77

Miguel Ángel López-Martínez

Publications

564

Citations

H-Index

Page 1

	Year	Citations
Mutation Screening of 299 Spanish Families with Retinal Dystrophies by Leber Congenital Amaurosis Genotyping Microarray Elena Vallespín, Diego Cantalapiedra, Rosa Riveiro-Álvarez, Investigative Ophthalmology & Visual Science	2007	85
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies Mingchu Xu, Ya‐Jing Xie, Hana Abouzeid, The American Journal of Human Genetics Ocular DiseaseDevelopmental BiologyRetinaOphthalmologyAdditional Developmental Anomalies	2017	77
Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes Ana Arteche‐López, Almudena Ávila‐Fernández, Raquel Escutia Romero, Scientific Reports	2021	65
Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa Raquel Pérez-Carro, Marta Cortón, Iker Sánchez‐Navarro, Scientific Reports	2016	62
Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients Patrícia José, Marta Cortón, Fiona Blanco‐Kelly, Investigative Ophthalmology & Visual Science	2015	51
Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations Almudena Ávila‐Fernández, Raquel Pérez-Carro, Marta Cortón, Human Molecular Genetics	2015	51
A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice Rocío Sánchez-Alcudia, Maria García‐Hoyos, Miguel Ángel López-Martínez, PLoS ONE Ocular DiseaseGeneticsGenetic EpidemiologyGynecologyDisease Gene Identification	2016	46
Helping the family carers of Alzheimer’s patients: from theory…to practice. A preliminary study José Carlos Millán-Calentí, Manuel Gandoy‐Crego, M Antelo-Martelo, Archives of Gerontology and Geriatrics NursingFamily MedicineFamily HealthPrimary CareAlzheimer's Disease	2000	42
Clinical Exome Sequencing Reveals <b><i>MKRN3</i></b> Pathogenic Variants in Familial and Nonfamilial Idiopathic Central Precocious Puberty Nelmar Valentina Ortiz‐Cabrera, Rosa Riveiro-Álvarez, Miguel Ángel López-Martínez, Hormone Research in Paediatrics	2016	30
Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies. Maria García‐Hoyos, Carmen Laura Aúz-Alexandre, Berta Almoguera, PubMed	2011	22

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