| 1 | What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia | American Journal of Medical Genetics, Part A | 2018 | 153 |
| 2 | Decreased Oxygenation and Hyperlipemia During Intravenous Fat Infusions in Premature Infants | Pediatrics | 1980 | 129 |
| 3 | Racial disparities in treatment and outcomes of children with type 1 diabetes | Pediatric Diabetes | 2021 | 81 |
| 4 | Congenital hyperinsulinism disorders: Genetic and clinical characteristics | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2019 | 79 |
| 5 | Clinical features of three girls with mosaic genome‐wide paternal uniparental isodisomy | American Journal of Medical Genetics, Part A | 2013 | 71 |
| 6 | Hypothalamic hamartoma with epilepsy: Review of endocrine comorbidity | Epilepsia | 2017 | 70 |
| 7 | ISPAD
Clinical Practice Consensus Guidelines 2022: Management of cystic fibrosis‐related diabetes in children and adolescents | Pediatric Diabetes | 2022 | 63 |
| 8 | Prevalence of diabetes in Australia: insights from the Fremantle Diabetes Study Phase II | Internal Medicine Journal | 2018 | 59 |
| 9 | Health supervision for people with Bloom syndrome | American Journal of Medical Genetics, Part A | 2018 | 55 |
| 10 | Diazoxide treatment of idiopathichypoglycemia of infancy | Journal of Pediatrics | 1967 | 53 |
| 11 | Pregnancy in glycogen storage disease type Ib: gestational care and report of first successful deliveries | Journal of Inherited Metabolic Disease | 2010 | 53 |
| 12 | Omega‐3 PUFA supplementation and the response to evoked endotoxemia in healthy volunteers | Molecular Nutrition and Food Research | 2014 | 43 |
| 13 | Randomized, double‐blind, placebo‐controlled study of interferon‐γ 1b in Friedreich Ataxia | Annals of Clinical and Translational Neurology | 2019 | 42 |
| 14 | End‐Organ Function and Exercise Performance in Patients With Fontan Circulation: What Characterizes the High Performers? | Journal of the American Heart Association | 2020 | 41 |
| 15 | Endocrine phenotype of 6q16.1–q21 deletion involving SIM1 and Prader–Willi syndrome‐like features | American Journal of Medical Genetics, Part A | 2013 | 38 |
| 16 | A Genomewide Association Study Identifies Two Sex‐Specific Loci, at SPTB and IZUMO3, Influencing Pediatric Bone Mineral Density at Multiple Skeletal Sites | Journal of Bone and Mineral Research | 2017 | 37 |
| 17 | Glargine co-administration with intravenous insulin in pediatric diabetic ketoacidosis is safe and facilitates transition to a subcutaneous regimen | Pediatric Diabetes | 2017 | 37 |
| 18 | A novel mutation inGATA6causes pancreatic agenesis | Pediatric Diabetes | 2015 | 35 |
| 19 | Clinical heterogeneity of hyperinsulinism due to HNF1A
and HNF4A
mutations | Pediatric Diabetes | 2018 | 35 |
| 20 | Circulating Osteonectin and Adipokine Profiles in Relation to Metabolically Healthy Obesity in Chinese Children: Findings From BCAMS | Journal of the American Heart Association | 2018 | 34 |
| 21 | Intranasal Carbetocin Reduces Hyperphagia, Anxiousness, and Distress in Prader-Willi Syndrome: CARE-PWS Phase 3 Trial | Journal of Clinical Endocrinology and Metabolism | 2023 | 33 |
| 22 | Exposure to high fructose corn syrup during adolescence in the mouse alters hepatic metabolism and the microbiome in a sex‐specific manner | Journal of Physiology | 2021 | 32 |
| 23 | Multimodality assessment of heart failure with preserved ejection fraction skeletal muscle reveals differences in the machinery of energy fuel metabolism | ESC Heart Failure | 2021 | 32 |
| 24 | Risk factors for poor bone health in primary mitochondrial disease | Journal of Inherited Metabolic Disease | 2017 | 31 |
| 25 | Parenteral iron therapy and phosphorus homeostasis: A review | American Journal of Hematology | 2021 | 29 |
| 26 | A structured 1‐year education program for children with newly diagnosed type 1 diabetes improves early glycemic control | Pediatric Diabetes | 2019 | 28 |
| 27 | Response of the ENPP1-Deficient Skeletal Phenotype to Oral Phosphate Supplementation and/or Enzyme Replacement Therapy: Comparative Studies in Humans and Mice | Journal of Bone and Mineral Research | 2021 | 28 |
| 28 | A Multidisciplinary Approach to Pretransplant and Posttransplant Management of Cystic Fibrosis–Associated Liver Disease | Liver Transplantation | 2019 | 27 |
| 29 | Understanding the phenotypic spectrum of ASXL‐related disease: Ten cases and a review of the literature | American Journal of Medical Genetics, Part A | 2021 | 27 |
| 30 | Mechanisms subserving insulin action in the gonad: Evidence that insulin induces specific phosphorylation of its immunoprecipitable receptor on ovarian cells | Biochemical and Biophysical Research Communications | 1984 | 26 |
| 31 | Efficacy and implementation of an Internet psychoeducational program for teens with type 1 diabetes | Pediatric Diabetes | 2016 | 26 |
| 32 | Impact of diabetes in the Friedreich ataxia clinical outcome measures study | Annals of Clinical and Translational Neurology | 2017 | 24 |
| 33 | Evaluation of ADA HbA1c criteria in the diagnosis of pre-diabetes and diabetes in a population of Chinese adolescents and young adults at high risk for diabetes: a cross-sectional study | BMJ Open | 2018 | 23 |
| 34 | Single Gland, Ectopic Location: Adenomas are Common Causes of Primary Hyperparathyroidism in Children and Adolescents | World Journal of Surgery | 2020 | 22 |
| 35 | Dissecting heterogeneity in paediatric Type 1 diabetes: association of TCF7L2 rs7903146 TT and low‐risk human leukocyte antigen (HLA) genotypes | Diabetic Medicine | 2017 | 21 |
| 36 | CLEC16A regulates splenocyte and NK cell function in part through MEK signaling | PLoS ONE | 2018 | 21 |
| 37 | Benign tumors in myotonic dystrophy type I target disease‐related cancer sites | Annals of Clinical and Translational Neurology | 2019 | 21 |
| 38 | Management of pediatric differentiated thyroid cancer: An overview for the pediatric oncologist | Pediatric Blood and Cancer | 2020 | 21 |
| 39 | Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations | American Journal of Medical Genetics, Part A | 2019 | 20 |
| 40 | Acquired hypothalamic obesity: A clinical overview and update | Diabetes, Obesity and Metabolism | 2024 | 20 |
| 41 | Headache Characteristics in Children With Pseudotumor Cerebri Syndrome, Elevated Opening Pressure Without Papilledema, and Normal Opening Pressure: A Retrospective Cohort Study | Headache | 2018 | 18 |
| 42 | Novel dominant KATP channel mutations in infants with congenital hyperinsulinism: Validation by in vitro expression studies and in vivo carrier phenotyping | American Journal of Medical Genetics, Part A | 2019 | 18 |
| 43 | Growth hormone deficiency in megalencephaly‐capillary malformation syndrome: An association with activating mutations in PIK3CA | American Journal of Medical Genetics, Part A | 2020 | 18 |
| 44 | miRNA expression can classify pediatric thyroid lesions and increases the diagnostic yield of mutation testing | Pediatric Blood and Cancer | 2020 | 18 |
| 45 | Insulin resistance, beta-cell function, adipokine profiles and cardiometabolic risk factors among Chinese youth with isolated impaired fasting glucose versus impaired glucose tolerance: the BCAMS study | BMJ Open Diabetes Research and Care | 2020 | 17 |
| 46 | Marked elevation of urinary 3-hydroxydecanedioic acid in a malnourished infant with glycogen storage disease, mimicking long-chainl-3-hydroxyacyl-CoA dehydrogenase deficiency | Journal of Inherited Metabolic Disease | 1993 | 16 |
| 47 | A severe case of hyperinsulinism due to hemizygous activating mutation of glutamate dehydrogenase | Pediatric Diabetes | 2017 | 16 |
| 48 | Outcomes in Pediatric Thyroidectomy: Results From a Multinational, Multi‐institutional Database | Otolaryngology - Head and Neck Surgery | 2022 | 16 |
| 49 | Auscultate, palpate and tap: time to re‐evaluate | Acta Paediatrica, International Journal of Paediatrics | 2016 | 15 |
| 50 | Insulin-like growth factor-I and insulin-like growth factor binding protein-1 are related to cardiovascular disease biomarkers in obese adolescents | Pediatric Diabetes | 2016 | 15 |
