| DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease JP Suntharalingham, F Buonocore, AJ Duncan, JC Achermann Best practice & research Clinical endocrinology & metabolism 29 (4), 607-619, 2015 | 221 | 2015 |
| Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome R Prasad, I Hadjidemetriou, A Maharaj, E Meimaridou, F Buonocore, ... The Journal of clinical investigation 127 (3), 942-953, 2017 | 181 | 2017 |
| Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans F Buonocore, P Kühnen, JP Suntharalingham, I Del Valle, M Digweed, ... The Journal of clinical investigation 127 (5), 1700-1713, 2017 | 165 | 2017 |
| Rare causes of primary adrenal insufficiency: genetic and clinical characterization of a large nationwide cohort T Guran, F Buonocore, N Saka, MN Ozbek, Z Aycan, A Bereket, F Bas, ... The Journal of Clinical Endocrinology & Metabolism 101 (1), 284-292, 2016 | 162 | 2016 |
| A recurrent p. Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development A Bashamboo, PA Donohoue, E Vilain, S Rojo, P Calvel, SN Seneviratne, ... Human molecular genetics 25 (16), 3446-3453, 2016 | 123 | 2016 |
| A genomic atlas of human adrenal and gonad development I Del Valle, F Buonocore, AJ Duncan, L Lin, M Barenco, R Parnaik, ... Wellcome open research 2, 2017 | 86 | 2017 |
| Primary adrenal insufficiency: New genetic causes and their long‐term consequences F Buonocore, JC Achermann Clinical Endocrinology 92 (1), 11-20, 2020 | 74 | 2020 |
| Next-generation sequencing reveals novel genetic variants (SRY, DMRT1, NR5A1, DHH, DHX37) in adults with 46, XY DSD F Buonocore, O Clifford-Mobley, TFJ King, N Striglioni, E Man, ... Journal of the Endocrine Society 3 (12), 2341-2360, 2019 | 67 | 2019 |
| Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46, XY gonadal dysgenesis and 46, XY testicular regression syndrome K McElreavey, A Jorgensen, C Eozenou, T Merel, J Bignon-Topalovic, ... Genetics in Medicine 22 (1), 150-159, 2020 | 59 | 2020 |
| Effects of cis -regulatory variation differ across regions of the adult human brain F Buonocore, MJ Hill, CD Campbell, PB Oladimeji, AR Jeffries, C Troakes, ... Human molecular genetics 19 (22), 4490-4496, 2010 | 45 | 2010 |
| AMPA receptor activation promotes non-amyloidogenic amyloid precursor protein processing and suppresses neuronal amyloid-β production SE Hoey, F Buonocore, CJ Cox, VJ Hammond, MS Perkinton, RJ Williams PLoS One 8 (10), e78155, 2013 | 40 | 2013 |
| Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing A Maharaj, F Buonocore, E Meimaridou, G Ruiz-Babot, L Guasti, ... Journal of the Endocrine Society 3 (1), 201-221, 2019 | 38 | 2019 |
| Genetic analysis of pediatric primary adrenal insufficiency of unknown etiology: 25 years’ experience in the UK F Buonocore, A Maharaj, Y Qamar, K Koehler, JP Suntharalingham, ... Journal of the Endocrine Society 5 (8), bvab086, 2021 | 35 | 2021 |
| Current insights into adrenal insufficiency in the newborn and young infant F Buonocore, SM McGlacken-Byrne, I Del Valle, JC Achermann Frontiers in Pediatrics 8, 619041, 2020 | 32 | 2020 |
| Analysis of CDKN1C in fetal growth restriction and pregnancy loss JP Suntharalingham, M Ishida, F Buonocore, I Del Valle, N Solanky, ... F1000Research 8, 2019 | 26 | 2019 |
| A patient with proopiomelanocortin deficiency: an increasingly important diagnosis to make S Çetinkaya, T Güran, E Kurnaz, M Keskin, E Sağsak, SS Erdeve, ... Journal of Clinical Research in Pediatric Endocrinology 10 (1), 68, 2018 | 24 | 2018 |
| Human sex development: targeted technologies to improve diagnosis F Buonocore, JC Achermann Genome Biology 17, 1-3, 2016 | 23 | 2016 |
| Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosis W Kallali, E Gray, MZ Mehdi, R Lindsay, LA Metherell, F Buonocore, ... European Journal of Endocrinology 182 (3), K15-K24, 2020 | 15 | 2020 |
| Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency SM McGlacken-Byrne, I Del Valle, PLQ Stabej, L Bellutti, L Garcia-Alonso, ... JCI insight 7 (5), 2022 | 12 | 2022 |
| Members of UDN, Dumargne MC, Eozenou C, Suntharalingham JP, de Silva K, Lin L, Bignon-Topalovic J, Poulat F, Lagos CF, McElreavey K, Achermann JC. A recurrent p. Arg92Trp … A Bashamboo, PA Donohoue, E Vilain, S Rojo, P Calvel, SN Seneviratne, ... Hum Mol Genet 25 (23), 5286, 2016 | 10 | 2016 |
John AchermannProfessor of Paediatric Endocrinology, UCLVerified email at ucl.ac.uk
