Gabriela Chavarría‐Soley

Author

Friedrich-Alexander-Universität Erlangen-Nürnberg ORCID

Also Known As

Chavarría-Soley, Gabriela, G. Chavarría-Soley, Gabriela Chavarria Soley, Gabriela Chavarria-Soley, Gabriela Chavarriá-Soley, Gabriela Chavarría-Soley, Gabriela Chavarría-soley, Gabriela Chavarría‐Soley

Publications

425

Citations

H-Index

Concepts

All Affiliations

Friedrich-Alexander-Universität Erlangen-Nürnberg Institute of Human Genetics Karolinska Institutet Universidad de Costa Rica

About

Gabriela Chavarría‐Soley is an author at Friedrich-Alexander-Universität Erlangen-Nürnberg specializing in molecular biology, genetic diseases, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	1	1	69
2	Molecular Biology	1	1	69
3	Molecular Genetics	1	1	69
4	Pathology	1	1	69
5	Genetics	1	1	69

Gabriela Chavarría‐Soley

Publications

370

Citations

H-Index

Page 1

	Year	Citations
Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme Gabriela Chavarría‐Soley, Heinrich Sticht, Eleni Aklillu, Human Mutation Genetic DiseasesMendelian DisorderNew MeasureGenetic DisorderGenetics	2008	69
Profiling of<i>WDR36</i>Missense Variants in German Patients with Glaucoma Francesca Pasutto, Christian Y. Mardin, Karin Michels-Rautenstrauss, Investigative Ophthalmology & Visual Science	2008	61
Heterozygous Loss-of-Function Variants in<i>CYP1B1</i>Predispose to Primary Open-Angle Glaucoma Francesca Pasutto, Gabriela Chavarría‐Soley, Christian Y. Mardin, Investigative Ophthalmology & Visual Science	2010	60
Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations. Gabriela Chavarría‐Soley, Karin Michels-Rautenstrauss, Francesca Pasutto, PubMed	2006	46
Novel CYP1B1 and Known PAX6 Mutations in Anterior Segment Dysgenesis (ASD) Gabriela Chavarría‐Soley, Karin Michels-Rautenstrauss, Almuth Caliebe, Journal of Glaucoma	2006	41
Novel mutations in the MYOC/GLC1A gene in a large group of glaucoma patients Karin Michels-Rautenstrauss, Christian Y. Mardin, Nina Wakili, Human Mutation	2002	38
Primary Congenital Glaucoma: A Novel Single-Nucleotide Deletion and Varying Phenotypic Expression for the 1546???1555dup Mutation in the GLC3A (CYP1B1) Gene in 2 Families of Different Ethnic Origin Gabriela Chavarría‐Soley, Kristin Bosse, David Flikier, Journal of Glaucoma	2003	33
Molecular analysis of CYP1B1 in Omani patients with primary congenital glaucoma: a pilot study. Stefan El-Gayar, Anuradha Ganesh, Gabriela Chavarría‐Soley, PubMed	2009	22

Page 1