Anélia Horvath

Mutations in Regulatory Subunit Type 1A of Cyclic Adenosine 5′-Monophosphate-Dependent Protein Kinase (<i>PRKAR1A</i>): Phenotype Analysis in 353 Patients and 80 Different Genotypes

Jérôme Bertherat, Anélia Horvath, Lionel Groussin et al. · The Journal of Clinical Endocrinology & Metabolism · 2009 · 432 citations · Full text

A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia

Anélia Horvath, Sosipatros A. Boikos, Christoforos Giatzakis et al. · Nature Genetics · 2006 · 342 citations

Adrenal Gland, Endocrine Disease, Genetic Disorder +10

Gigantism and Acromegaly Due to Xq26 Microduplications and <i>GPR101</i> Mutation

Giampaolo Trivellin, Adrian Daly, Fábio R. Faucz et al. · New England Journal of Medicine · 2014 · 329 citations · Full text

The role of germline <i>AIP</i>, <i>MEN1, PRKAR1A</i>, <i>CDKN1B</i> and <i>CDKN2C</i> mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes

MA Tichomirowa, Sosipatros A. Boikos, MF Azevedo et al. · Clinical Genetics · 2010 · 207 citations · Full text

RNA sequencing of cancer reveals novel splicing alterations

Jeyanthy Eswaran, Anélia Horvath, Sucheta Godbole et al. · Scientific Reports · 2013 · 182 citations · Full text