Gabriela Chavarría‐Soley

Statistics

Publications

Citations

374

H-Index

Active since

2002

Affiliations

Friedrich-Alexander-Universität Erlangen-Nürnberg(Current)

Institute of Human Genetics

Karolinska Institutet

Universidad de Costa Rica

Gabriela Chavarría‐Soley is an author at Friedrich-Alexander-Universität Erlangen-Nürnberg specializing in human genetics, genetics, and ocular genetics.

ORCID

Publications per year

2002–2010

Publications

Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme

Gabriela Chavarría‐Soley, Heinrich Sticht, Eleni Aklillu et al. · Human Mutation · 2008 · 70 citations

Life Sciences, Genetics, Molecular Genetics +13

Heterozygous Loss-of-Function Variants in<i>CYP1B1</i>Predispose to Primary Open-Angle Glaucoma

Francesca Pasutto, Gabriela Chavarría‐Soley, Christian Y. Mardin et al. · Investigative Ophthalmology & Visual Science · 2010 · 63 citations · Full text

Medicine, Genetics, Ophthalmology +14

Profiling of<i>WDR36</i>Missense Variants in German Patients with Glaucoma

Francesca Pasutto, Christian Y. Mardin, Karin Michels-Rautenstrauss et al. · Investigative Ophthalmology & Visual Science · 2008 · 61 citations · Full text

Life Sciences, Genetics, Ophthalmology +10

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 et al. · PubMed · 2006 · 46 citations

Life Sciences, Genetics, Ophthalmology +17

Novel CYP1B1 and Known PAX6 Mutations in Anterior Segment Dysgenesis (ASD)

Gabriela Chavarría‐Soley, Karin Michels-Rautenstrauss, Almuth Caliebe et al. · Journal of Glaucoma · 2006 · 41 citations

Life Sciences, Genetics, Ophthalmology +17

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