| # | Title | Journal | Year | Citations |
|---|
| 1 | Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis | Nature Genetics | 2006 | 2,584 |
| 2 | Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris | Nature Genetics | 2006 | 916 |
| 3 | Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus | Nature Genetics | 2006 | 752 |
| 4 | ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis | Nature Genetics | 2006 | 617 |
| 5 | Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations | Journal of Allergy and Clinical Immunology | 2006 | 567 |
| 6 | Effect on migraine of closure of cardiac right-to-left shunts to prevent recurrence of decompression illness or stroke or for haemodynamic reasons | Lancet, The | 2000 | 388 |
| 7 | Allogeneic bone marrow transplantation for lysosomal storage diseases | Lancet, The | 1995 | 254 |
| 8 | Use of protein-C concentrate, heparin, and haemodiafiltration in meningococcus-induced purpura fulminans | Lancet, The | 1997 | 221 |
| 9 | Breaking the (Un)Sound Barrier: Filaggrin Is a Major Gene for Atopic Dermatitis | Journal of Investigative Dermatology | 2006 | 212 |
| 10 | Lipopolysaccharide Induces Rapid Production of IL-10 by Monocytes in the Presence of Apoptotic Neutrophils | Journal of Immunology | 2002 | 201 |
| 11 | Decline in mortality, AIDS, and hospital admissions in perinatally HIV-1 infected children in the United Kingdom and Ireland | BMJ: British Medical Journal | 2003 | 197 |
| 12 | Respiratory Function and Cosmesis at Maturity in Infantile-onset Scoliosis | Spine | 2003 | 192 |
| 13 | Transcatheter closure of perimembranous ventricular septal defects using the amplatzer membranous VSD occluder: Immediate and midterm results of an international registry | Catheterization and Cardiovascular Interventions | 2006 | 190 |
| 14 | Outcomes of hematopoietic stem cell transplantation for Hurler's syndrome in Europe: a risk factor analysis for graft failure | Bone Marrow Transplantation | 2007 | 186 |
| 15 | Helicobacter pylori requires an acidic environment to survive in the presence of urea | Infection and Immunity | 1995 | 176 |
| 16 | Neonatal immunity: how well has it grown up? | Trends in Immunology | 2000 | 174 |
| 17 | Sex-specific alterations in neutrophil apoptosis: the role of estradiol and progesterone | Blood | 2003 | 170 |
| 18 | Pulmonary exacerbation: Towards a definition for use in clinical trials. Report from the EuroCareCF Working Group on outcome parameters in clinical trials | Journal of Cystic Fibrosis | 2011 | 165 |
| 19 | A Prospective Study of the Oral Manifestations of Crohn’s Disease | Clinical Gastroenterology and Hepatology | 2005 | 159 |
| 20 | Flash survey on severe acute respiratory syndrome coronavirus-2 infections in paediatric patients on anticancer treatment | European Journal of Cancer | 2020 | 155 |
| 21 | Real-Time Reverse Transcription-PCR for Detection of Rotavirus and Adenovirus as Causative Agents of Acute Viral Gastroenteritis in Children | Journal of Clinical Microbiology | 2006 | 154 |
| 22 | The Risk of Allergic Reaction to SARS-CoV-2 Vaccines and Recommended Evaluation and Management: A Systematic Review, Meta-Analysis, GRADE Assessment, and International Consensus Approach | Journal of Allergy and Clinical Immunology: in Practice | 2021 | 152 |
| 23 | Notable postnatal alterations in the myenteric plexus of normal human bowel | Gut | 1999 | 148 |
| 24 | Elastin: mutational spectrum in supravalvular aortic stenosis | European Journal of Human Genetics | 2000 | 147 |
| 25 | Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia | British Journal of Haematology | 2005 | 138 |
| 26 | Adolescent Idiopathic Scoliosis | Spine | 2001 | 136 |
| 27 | Focally enhanced gastritis in children with Crohn's disease and ulcerative colitis | American Journal of Gastroenterology | 2002 | 136 |
| 28 | Congenital diaphragmatic hernia: influence of associated malformations on survival. | Archives of Disease in Childhood | 1993 | 135 |
| 29 | Low rates of Helicobacter pylori reinfection in children | Gastroenterology | 1999 | 133 |
| 30 | Altered Expression of Interstitial Cells of Cajal in Congenital Ureteropelvic Junction Obstruction | Journal of Urology | 2003 | 128 |
| 31 | The oral cavity in Crohn’s disease | Journal of Pediatrics | 2001 | 122 |
| 32 | Intestinal neuronal dysplasia is a possible cause of persistent bowel symptoms after pull-through operation for Hirschsprung's disease | Journal of Pediatric Surgery | 1995 | 121 |
| 33 | Enlarged vestibular aqueduct: a radiological marker of Pendred syndrome, and mutation of the PDS gene | QJM - Monthly Journal of the Association of Physicians | 2000 | 121 |
| 34 | High-Resolution Analysis of Chromosomal Breakpoints and Genomic Instability Identifies PTPRD as a Candidate Tumor Suppressor Gene in Neuroblastoma | Cancer Research | 2006 | 121 |
| 35 | Long-term results of bowel function after treatment for Hirschsprung’s disease: a 29-year review | Pediatric Surgery International | 2006 | 120 |
| 36 | Symptomatic Meckel’s diverticulum in children: a 16-year review | Pediatric Surgery International | 2008 | 117 |
| 37 | Is contralateral exploration necessary in infants with unilateral inguinal hernia? | Journal of Pediatric Surgery | 1993 | 114 |
| 38 | Human Recent Thymic Emigrants–Identification, Expansion, And Survival Characteristics | Journal of Immunology | 2001 | 114 |
| 39 | ASSOCIATED UROLOGICAL ANOMALIES IN CHILDREN WITH UNILATERAL RENAL AGENESIS | Journal of Urology | 1999 | 113 |
| 40 | Altered Distribution of Interstitial Cells of Cajal in Hirschsprung Disease | Archives of Pathology and Laboratory Medicine | 2002 | 112 |
| 41 | Is it necessary to perform appendicectomy in the middle of the night in children? | BMJ: British Medical Journal | 1993 | 110 |
| 42 | Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease | Human Molecular Genetics | 1996 | 110 |
| 43 | The detection of large deletions or duplications in genomic DNA | Human Mutation | 2002 | 110 |
| 44 | A prospective crossover comparison of neurally adjusted ventilatory assist and pressure-support ventilation in a pediatric and neonatal intensive care unit population* | Pediatric Critical Care Medicine | 2010 | 109 |
| 45 | A Statistical Comparison Between Natural History of Idiopathic Scoliosis and Brace Treatment in Skeletally Immature Adolescent Girls | Spine | 1993 | 107 |
| 46 | IL-7 promotes the survival and maturation but not differentiation of human post-thymic CD4+ T cells | European Journal of Immunology | 1998 | 105 |
| 47 | Risk Factor Analysis of Outcomes after Unrelated Cord Blood Transplantation in Patients with Hurler Syndrome | Biology of Blood and Marrow Transplantation | 2009 | 105 |
| 48 | Adolescents and young adults (AYA) with cancer: a position paper from the AYA Working Group of the European Society for Medical Oncology (ESMO) and the European Society for Paediatric Oncology (SIOPE) | ESMO Open | 2021 | 104 |
| 49 | Low‐molecular weight and unfractionated heparins induce a downregulation of inflammation: decreased levels of proinflammatory cytokines and nuclear factor‐κB in LPS‐stimulated human monocytes | British Journal of Haematology | 2006 | 102 |
| 50 | Atrioventricular block after transcatheter closure of perimembranous ventricular septal defects | Heart | 2006 | 100 |
