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#TitleJournalYearCitations
1GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’European Journal of Endocrinology2018105
2De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal developmentNature Genetics201788
3Understanding the genetic aetiology in patients with XY DSDBritish Medical Bulletin201379
4The External Genitalia Score (EGS): A European Multicenter Validation StudyJournal of Clinical Endocrinology and Metabolism202051
5Impact of Inflammatory Bowel Disease on Pubertal GrowthHormone Research in Paediatrics201144
6The current state of diagnostic genetics for conditions affecting sex developmentClinical Genetics201736
7Management of Gonads in Adults with Androgen Insensitivity: An International SurveyHormone Research in Paediatrics201834
8Testosterone Therapy in Adolescent Boys: The Need for a Structured ApproachHormone Research in Paediatrics201934
9Shorter anogenital and anoscrotal distances correlate with the severity of hypospadias: A prospective studyJournal of Pediatric Urology201733
10Measurement of Salivary Adrenal-Specific Androgens as Biomarkers of Therapy Control in 21-Hydroxylase DeficiencyJournal of Clinical Endocrinology and Metabolism201931
11Therapy options for adrenal insufficiency and recommendations for the management of adrenal crisisEndocrine202131
12Prevalence of endocrine and genetic abnormalities in boys evaluated systematically for a disorder of sex developmentHuman Reproduction201730
13Plasma Renin Measurements are Unrelated to Mineralocorticoid Replacement Dose in Patients With Primary Adrenal InsufficiencyJournal of Clinical Endocrinology and Metabolism202030
14Effect of Testosterone Therapy for Delayed Growth and Puberty in Boys with Inflammatory Bowel DiseaseHormone Research in Paediatrics201129
15Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for DiagnosisJournal of Clinical Endocrinology and Metabolism201927
16Nanotopology potentiates growth hormone signalling and osteogenesis of mesenchymal stem cellsGrowth Hormone and IGF Research201425
17Skeletal Fragility in Children with Chronic DiseaseHormone Research in Paediatrics201623
18The Role of International Databases in Understanding the Aetiology and Consequences of Differences/Disorders of Sex DevelopmentInternational Journal of Molecular Sciences201923
19International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia: data from the I-CAH registryEuropean Journal of Endocrinology202121
20Frequency and aetiology of hypercalcaemiaArchives of Disease in Childhood201619
21Thyroid function in Down syndromeExpert Review of Endocrinology and Metabolism201514
22Serum Anti-Müllerian Hormone in the Prediction of Response to hCG Stimulation in Children With DSDJournal of Clinical Endocrinology and Metabolism202014
23Genetic defects of the CYP21A2 gene in girls with premature adrenarcheJournal of Endocrinological Investigation201513
24Involving Individuals with Disorders of Sex Development and Their Parents in Exploring New Models of Shared Learning: Proceedings from a DSDnet COST Action WorkshopSexual Development201813
25The EuRRECa Project as a Model for Data Access and Governance Policies for Rare Disease Registries That Collect Clinical OutcomesInternational Journal of Environmental Research and Public Health202013
26An audit of the management of childhood-onset growth hormone deficiency during young adulthood in ScotlandInternational Journal of Pediatric Endocrinology (Springer)201612
27The use of growth hormone therapy in adults with Prader‐Willi syndrome: A systematic reviewClinical Endocrinology202111
28The Quality Evaluation of Rare Disease Registries—An Assessment of the Essential Features of a Disease RegistryInternational Journal of Environmental Research and Public Health202111
29Association Between Extra-Genital Congenital Anomalies and Hypospadias OutcomeSexual Development201910
30Supporting international networks through platforms for standardised data collection—the European Registries for Rare Endocrine Conditions (EuRRECa) modelEndocrine20219
31Gonadectomy in conditions affecting sex development: a registry-based cohort studyEuropean Journal of Endocrinology20219
32The outcome of prenatal identification of sex chromosome abnormalitiesArchives of Disease in Childhood: Fetal and Neonatal Edition20168
33Endocrine Therapy for Growth Retardation in Paediatric Inflammatory Bowel DiseasePaediatric Drugs20147
34Novel Genetic Associations and Range of Phenotypes in Children with Disorders of Sex Development and Neurodevelopment: Insights from the Deciphering Developmental Disorders StudySexual Development20167
35Congenital Micropenis: Etiology And ManagementJournal of the Endocrine Society20227
36Treatment of congenital adrenal hyperplasia in children aged 0–3 years: a retrospective multicenter analysis of salt supplementation, glucocorticoid and mineralocorticoid medication, growth and blood pressureEuropean Journal of Endocrinology20227
37Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in EuropeEuropean Journal of Endocrinology20227
38Emergency and perioperative management of adrenal insufficiency in children and young people: British Society for Paediatric Endocrinology and Diabetes consensus guidanceArchives of Disease in Childhood20237
39Androgen-responsive non-coding small RNAs extend the potential of HCG stimulation to act as a bioassay of androgen sufficiencyEuropean Journal of Endocrinology20176
40Systematic review of the effects of bisphosphonates on bone density and fracture incidence in childhood acute lymphoblastic leukaemiaOsteoporosis International20206
41A Nationwide Study of the Prevalence and Initial Management of Atypical Genitalia in the Newborn in ScotlandSexual Development20226
42Growth, puberty and testicular function in boys born small for gestational age with a nonspecific disorder of sex developmentClinical Endocrinology20226
43Testicular Sertoli Cell Hormones in Differences in Sex DevelopmentFrontiers in Endocrinology06
44Combined growth hormone and insulin-like growth factor-1 rescues growth retardation in glucocorticoid-treated mdxmice but does not prevent osteopeniaJournal of Endocrinology20225
45Objective and subjective measures of sleep in men with Muscular DystrophyPLoS ONE20225
46The effect of COVID-19 on the presentation of thyroid disease in childrenFrontiers in Endocrinology05
47The evaluation and management of the boy with DSDBest Practice and Research in Clinical Endocrinology and Metabolism20184
48Surgical Practice in Girls with Congenital Adrenal Hyperplasia: An International Registry StudySexual Development20214
49Testosterone Therapy and Its Monitoring in Adolescent Boys with Hypogonadism: Results of an International Survey from the I-DSD RegistrySexual Development20214
50Delivery of multidisciplinary care in the field of differences and disorders of sex development (DSD)Expert Review of Endocrinology and Metabolism20224