Esther Pomares - Concepedia

Author

Esther Pomares

Universitat de Barcelona ORCID

Also Known As

E Pomares, Esther Pomares, Pomares, E.

Publications

633

Citations

H-Index

Concepts

All Affiliations

Universitat de Barcelona Instituto de Microcirugía Ocular Instituto de Salud Carlos III Centre for Biomedical Network Research on Rare Diseases Hospital Universitario Central de Asturias

About

Esther Pomares is an author at Universitat de Barcelona specializing in medicine, molecular genetics, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	4	4	136
2	Cell Biology	2	2	76
3	Natural Sciences	1	1	59
4	Public Health	1	1	35
5	Genetic Medicine	1	1	25

Esther Pomares

Publications

554

Citations

H-Index

Page 1

	Year	Citations
Autosomal Recessive Retinitis Pigmentosa with Early Macular Affectation Caused by Premature Truncation in<i>PROM1</i> Jon Permanyer, Rafael Navarro, James S. Friedman, Investigative Ophthalmology & Visual Science	2010	82
Functional Implications of the Presenilin Dimerization Sara Cervantes, Carlos A. Saura, Esther Pomares, Journal of Biological Chemistry Protein FunctionAlzheimer's DiseaseProtein FoldingMedicineNatural Sciences	2004	59
Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies Marina Riera, Rafael Navarro, Sheila Ruiz‐Nogales, Scientific Reports	2017	54
Nonsense-Mediated Decay as the Molecular Cause for Autosomal Recessive Bestrophinopathy in Two Unrelated Families Esther Pomares, Anniken Burés‐Jelstrup, Sheila Ruiz‐Nogales, Investigative Ophthalmology & Visual Science	2011	37
Combined Genetic and High-Throughput Strategies for Molecular Diagnosis of Inherited Retinal Dystrophies Marta de Castro‐Miró, Esther Pomares, Laura Lorés‐Motta, PLoS ONE	2014	36
Novel high-throughput SNP genotyping cosegregation analysis for genetic diagnosis of autosomal recessive retinitis pigmentosa and Leber congenital amaurosis Esther Pomares, Gemma Marfany, Marı́a Brión, Human Mutation GeneticsHereditary DeafnessMolecular GeneticsNovel High-throughput SnpDisease Gene Identification	2007	35
Novel splice donor site mutation in MERTK gene associated with retinitis pigmentosa Alejandro Brea‐Fernández, Esther Pomares, Marı́a Brión, British Journal of Ophthalmology	2008	35
Identification of a novel homozygous ARSG mutation as the second cause of Usher syndrome type 4 Víctor Abad–Morales, Rafael Navarro, Anniken Burés‐Jelstrup, American Journal of Ophthalmology Case Reports	2020	34
High Transcriptional Complexity of the Retinitis Pigmentosa<i>CERKL</i>Gene in Human and Mouse Alejandro Garanto, Marina Riera, Esther Pomares, Investigative Ophthalmology & Visual Science	2011	31
Panel‐based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns Marina Riera, Ana Wert, Isabel Nieto, Molecular Genetics & Genomic Medicine	2017	26

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