Nikolaos Settas

机构：Children's National · ORCID：0000-0001-7804-5303

发表论文 27 篇 · 总被引 518 次 · h-index 11

代表论文

Somatic USP8 Gene Mutations Are a Common Cause of Pediatric Cushing Disease (2017 · The Journal of Clinical Endocrinology & Metabolism · 被引 111)
Succinate dehydrogenase (SDH) deficiency, Carney triad and the epigenome (2017 · Molecular and Cellular Endocrinology · 被引 62)
SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency (2018 · The Journal of Clinical Endocrinology & Metabolism · 被引 52)
Carney Triad, Carney-Stratakis Syndrome, 3PAS and Other Tumors Due to SDH Deficiency (2021 · Frontiers in Endocrinology · 被引 49)
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain (2021 · Genetics in Medicine · 被引 30)
Genomic and sequence variants of protein kinase A regulatory subunit type 1β (PRKAR1B) in patients with adrenocortical disease and Cushing syndrome (2020 · Genetics in Medicine · 被引 20)