Federica Buonocore

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 12

Top Topics

Molecularly Imprinted

Electron Microscopy

Gene Expression

Top Venues

Journal of the Endocrine Society

Nature communications

Clinical endocrinology

This page only lists publications with an associated author ORCID identifier.

Publications

Denis Houzelstein, Caroline Eozenou, Carlos F Lagos, Maëva Elzaiat, Joelle Bignon-Topalovic, Inma Gonzalez, Vincent Laville, Laurène Schlick, Somboon Wankanit, Prochi Madon, Jyotsna Kirtane, Arundhati Athalye, Federica Buonocore, Stéphanie Bigou, Gerard S Conway, Delphine Bohl, John C Achermann, Anu Bashamboo, Kenneth McElreavey
A conserved NR5A1-responsive enhancer regulates SRY in testis-determination. Nature communications 15 (1) (2024)
Federica Buonocore, Monika Balys, Glenn Anderson, John C Achermann
Investigating ultrastructural morphology in MIRAGE syndrome-derived fibroblasts using transmission electron microscopy. F1000Research 12 (2024)
Denis Houzelstein, Caroline Eozenou, Carlos F Lagos, Maëva Elzaiat, Joelle Bignon-Topalovic, Inma Gonzalez, Vincent Laville, Laurène Schlick, Somboon Wankanit, Prochi Madon, Jyotsna Kirtane, Arundhati Athalye, Federica Buonocore, Stéphanie Bigou, Gerard S Conway, Delphine Bohl, John C Achermann, Anu Bashamboo, Kenneth McElreavey
A conserved NR5A1-responsive enhancer regulates SRY in testis-determination. Nature communications 15 (1) (2024)
Federica Buonocore, Monika Balys, Glenn Anderson, John C Achermann
Investigating ultrastructural morphology in MIRAGE syndrome-derived fibroblasts using transmission electron microscopy. F1000Research 12 (2024)
Denis Houzelstein, Caroline Eozenou, Carlos F Lagos, Maëva Elzaiat, Joelle Bignon-Topalovic, Inma Gonzalez, Vincent Laville, Laurène Schlick, Somboon Wankanit, Prochi Madon, Jyotsna Kirtane, Arundhati Athalye, Federica Buonocore, Stéphanie Bigou, Gerard S Conway, Delphine Bohl, John C Achermann, Anu Bashamboo, Kenneth McElreavey
A conserved NR5A1-responsive enhancer regulates SRY in testis-determination. Nature communications 15 (1) (2024)
Federica Buonocore, Monika Balys, Glenn Anderson, John C Achermann
Investigating ultrastructural morphology in MIRAGE syndrome-derived fibroblasts using transmission electron microscopy. F1000Research 12 (2024)
Avinaash V Maharaj, Tülay Güran, Federica Buonocore, John C Achermann, Louise A Metherell, Rathi Prasad, Semra Cetinkaya
Insights From Long-term Follow-up of a Girl With Adrenal Insufficiency and Sphingosine-1-Phosphate Lyase Deficiency. Journal of the Endocrine Society 6 (5) (2022)
Federica Buonocore, Avinaash V Maharaj, Younus Qamar, Katrin Koehler, Jenifer P Suntharalingham, Li F Chan, Bruno Ferraz-de-Souza, Claire R Hughes, Lin Lin, Rathi Prasad, Jeremy Allgrove, Edward Thomas Andrews, Charles R Buchanan, Timothy D Cheetham, Elizabeth C Crowne, Justin Huw Davies, John W Gregory, Peter C Hindmarsh, Tony Hulse, Nils P Krone, Prateek Shanmugananda, Mohamad Guftar Shaikh, Catherine Roberts, Peter Ellis Clayton, Mehul Tulsidas Dattani, N Simon Thomas, Angela Huebner, Adrian J L Clark, Louise A Metherell, John C Achermann
Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK. Journal of the Endocrine Society 5 (8) (2021)
Federica Buonocore, John C Achermann
Primary adrenal insufficiency: New genetic causes and their long-term consequences. Clinical endocrinology 92 (1) (2019)
Federica Buonocore, Oliver Clifford-Mobley, Thomas F J King, Niccolò Striglioni, Elim Man, Jenifer P Suntharalingham, Ignacio Del Valle, Lin Lin, Carlos F Lagos, Gill Rumsby, Gerard S Conway, John C Achermann
Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD. Journal of the Endocrine Society 3 (12) (2019)
Kenneth McElreavey, Anne Jørgensen, Caroline Eozenou, Tiphanie Merel, Joelle Bignon-Topalovic, Daisylyn Senna Tan, Denis Houzelstein, Federica Buonocore, Nick Warr, Raissa G G Kay, Matthieu Peycelon, Jean-Pierre Siffroi, Inas Mazen, John C Achermann, Yuliya Shcherbak, Juliane Leger, Agnes Sallai, Jean-Claude Carel, Laetitia Martinerie, Romain Le Ru, Gerard S Conway, Brigitte Mignot, Lionel Van Maldergem, Rita Bertalan, Evgenia Globa, Raja Brauner, Ralf Jauch, Serge Nef, Andy Greenfield, Anu Bashamboo
Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome. Genetics in medicine : official journal of the American College of Medical Genetics 22 (1) (2019)
Avinaash V Maharaj, Federica Buonocore, Eirini Meimaridou, Gerard Ruiz-Babot, Leonardo Guasti, Hwei-Ming Peng, Cameron P Capper, Neikelyn Burgos-Tirado, Rathi Prasad, Claire R Hughes, Ashwini Maudhoo, Elizabeth C Crowne, Timothy D Cheetham, Caroline E Brain, Jenifer P Suntharalingham, Niccolò Striglioni, Bilgin Yuksel, Fatih Gurbuz, Sangay Gupta, Robert S Lindsay, Robert Couch, Helen A Spoudeas, Tülay Güran, Stephanie R Johnson, Dallas J Fowler, Louise S Conwell, Aideen M McInerney-Leo, Delphine Drui, Bertrand Cariou, Juan Pedro López-Siguero, Mark Harris, Emma L Duncan, Peter C Hindmarsh, Richard J Auchus, Malcolm D Donaldson, John C Achermann, Louise A Metherell
Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing. Journal of the Endocrine Society 3 (1) (2018)