Concepedia

Nikolaos Settas

NS

8

Publications

327

Citations

8

H-Index

2013

Active since

Affiliations

Eunice Kennedy Shriver National Institute of Child Health and Human Development(Current)

National Institutes of Health

University of Würzburg

University of Pennsylvania

Children's Hospital of Philadelphia

Nikolaos Settas is an author at Eunice Kennedy Shriver National Institute of Child Health and Human Development specializing in signal transduction, adrenal disease, and medicine.

ORCID

Top concepts

Publications per year

2013–2021

8

Publications

8

Somatic USP8 Gene Mutations Are a Common Cause of Pediatric Cushing Disease

Fábio R. Faucz, Amit Tirosh, Christina Tatsi et al. · The Journal of Clinical Endocrinology & Metabolism · 2017 · 108 citations · Full text

Central Precocious Puberty in a Girl and Early Puberty in Her Brother Caused by a Novel Mutation in the MKRN3 Gene

Nikolaos Settas, Catherine Dacou‐Voutetakis, Maria Karantza et al. · The Journal of Clinical Endocrinology & Metabolism · 2014 · 79 citations · Full text

SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency

Nikolaos Settas, Rebecca Persky, Fábio R. Faucz et al. · The Journal of Clinical Endocrinology & Metabolism · 2018 · 52 citations · Full text

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Felix Marbach, Georgi Stoyanov, Florian Erger et al. · Genetics in Medicine · 2021 · 27 citations · Full text

Genomic and sequence variants of protein kinase A regulatory subunit type 1β (PRKAR1B) in patients with adrenocortical disease and Cushing syndrome

Ludivine Drougat, Nikolaos Settas, Cristina L. Ronchi et al. · Genetics in Medicine · 2020 · 20 citations · Full text

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