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Clinical Endocrinology|October 15, 2019
Primary adrenal insufficiency: New genetic causes and their long-term consequencesFederica Buonocore, John C AchermannGenome Biology|December 17, 2016
Human sex development: targeted technologies to improve diagnosisFederica Buonocore, John C AchermannF1000Research|March 4, 2024
Investigating ultrastructural morphology in MIRAGE syndrome-derived fibroblasts using transmission electron microscopyFederica Buonocore, Monika Balys, Glenn Anderson, et al.Best Practice & Research. Clinical Endocrinology & Metabolism|August 26, 2015
DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human diseaseJenifer P Suntharalingham, Federica Buonocore, Andrew J Duncan, et al.Frontiers in Pediatrics|December 31, 2020
Current Insights Into Adrenal Insufficiency in the Newborn and Young InfantFederica Buonocore, Sinead M McGlacken-Byrne, Ignacio Del Valle, et al.Frontiers in Endocrinology|April 14, 2022
Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case ReportNaseer Ali, Avinaash Vickram Maharaj, Federica Buonocore, et al.Journal of the Endocrine Society|March 21, 2022
Insights From Long-term Follow-up of a Girl With Adrenal Insufficiency and Sphingosine-1-Phosphate Lyase DeficiencyAvinaash Maharaj, Tülay Güran, Federica Buonocore, et al.Endocrinology, Diabetes & Metabolism Case Reports|September 26, 2021
Missplicing due to a synonymous, T96= exonic substitution in the T-box transcription factor TBX19 resulting in isolated ACTH deficiencyAshwini Maudhoo, Avinaash Maharaj, Federica Buonocore, et al.European Journal of Endocrinology|January 10, 2020
Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosisWafa Kallali, Ewan Gray, Muhammad Zain Mehdi, et al.F1000Research|May 13, 2020
Analysis of CDKN1C in fetal growth restriction and pregnancy lossJenifer P Suntharalingham, Miho Ishida, Federica Buonocore, et al.Pageof 11