| # | Title | Journal | Year | Citations |
|---|
| 1 | Nonclassic Lipoid Congenital Adrenal Hyperplasia Masquerading as Familial Glucocorticoid Deficiency | Journal of Clinical Endocrinology and Metabolism | 2009 | 138 |
| 2 | The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency | European Journal of Endocrinology | 2009 | 115 |
| 3 | Validation of Continuous Glucose Monitoring in Children and Adolescents With Cystic Fibrosis | Diabetes Care | 2009 | 92 |
| 4 | Hyperinsulinism–hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype–phenotype correlations | European Journal of Endocrinology | 2009 | 81 |
| 5 | Clinical, Genetic, and Functional Characterization of Four Patients Carrying Partial Loss-of-Function Mutations in the Steroidogenic Acute Regulatory Protein (StAR) | Journal of Clinical Endocrinology and Metabolism | 2010 | 73 |
| 6 | Factors Predicting Ante- and Postnatal Growth | Pediatric Research | 2008 | 56 |
| 7 | Clinical and molecular characterisation of hyperinsulinaemic hypoglycaemia in infants born small-for-gestational age | Archives of Disease in Childhood: Fetal and Neonatal Edition | 2013 | 44 |
| 8 | CBP/p300-Interacting Transactivator, with Glu/Asp-Rich C-Terminal Domain, 2, and Pre-B-Cell Leukemia Transcription Factor 1 in Human Adrenal Development and Disease | Journal of Clinical Endocrinology and Metabolism | 2009 | 35 |
| 9 | Induction of puberty by autograft of cryopreserved ovarian tissue in a patient previously treated for Ewing sarcoma | European Journal of Cancer | 2013 | 33 |
| 10 | Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism | European Journal of Endocrinology | 2011 | 28 |
| 11 | ChIP‐on‐chip analysis reveals angiopoietin 2 (Ang2, ANGPT2) as a novel target of steroidogenic factor‐1 (SF‐1, NR5A1) in the human adrenal gland | FASEB Journal | 2011 | 27 |
| 12 | Acanthosis Nigricans and Insulin Sensitivity in Patients with Achondroplasia and Hypochodroplasia due to FGFR3 Mutations | Journal of Clinical Endocrinology and Metabolism | 2009 | 23 |
| 13 | The growth hormone receptor gene deleted for exon three (GHRd3) polymorphism is associated with birth and placental weight | Clinical Endocrinology | 2012 | 17 |
| 14 | B27 Disruption of melatonin circadian rhythmicity in Huntington's disease (HD) | Journal of Neurology, Neurosurgery and Psychiatry | 2012 | 2 |
| 15 | Growth screening in children aged 3–5 years: a useful tool for public health programs in community pediatrics | Journal of Pediatric Endocrinology and Metabolism | 2019 | 2 |
