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Top Articles

#TitleJournalYearCitations
1Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locusNature2011394
2Transient limb ischaemia remotely preconditions through a humoral mechanism acting directly on the myocardium: evidence suggesting cross-species protectionClinical Science2009253
3Cause and Consequences of Genetic and Epigenetic Alterations in Human CancerCurrent Genomics2008227
4CD271 + Bone Marrow Mesenchymal Stem Cells May Provide a Niche for Dormant Mycobacterium tuberculosisScience Translational Medicine2013171
5Loss of Syntaxin 3 Causes Variant Microvillus Inclusion DiseaseGastroenterology2014151
6High-resolution mapping of amplifications and deletions in pediatric osteosarcoma by use of CGH analysis of cDNA microarraysGenes Chromosomes and Cancer2003149
7Marked Biological Variance in Endocrine and Biochemical Markers in Childhood: Establishment of Pediatric Reference Intervals Using Healthy Community Children from the CALIPER CohortClinical Chemistry2013148
8Expression analysis of genes associated with human osteosarcoma tumors shows correlation of RUNX2 overexpression with poor response to chemotherapyBMC Cancer2010115
9Role of Multiple Drug Resistance Protein 1 in Neutral but Not Acidic Glycosphingolipid BiosynthesisJournal of Biological Chemistry200497
101q21.1 Microduplication expression in adultsGenetics in Medicine201391
11Complex Biological Pattern of Fertility Hormones in Children and Adolescents: A Study of Healthy Children from the CALIPER Cohort and Establishment of Pediatric Reference IntervalsClinical Chemistry201391
12Molecular genetics of supratentorial primitive neuroectodermal tumors and pineoblastomaNeurosurgical Focus200583
13Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5CBMC Medical Genomics201380
14Cystic fibrosis transmembrane conductance regulator in human muscle: Dysfunction causes abnormal metabolic recovery in exerciseAnnals of Neurology201078
15Application of Comparative Genomic Hybridization, Spectral Karyotyping, and Microarray Analysis in the Identification of Subtype-Specific Patterns of Genomic Changes in RhabdomyosarcomaNeoplasia199976
16Cytotoxic Aldehydes as Possible Markers for Childhood CancerFree Radical Biology and Medicine199774
17A new molecular variant of desmoplastic small round cell tumor: significance of WT1 immunostaining in this entityHuman Pathology200865
18A sensitive and rapid mass spectrometric method for the simultaneous measurement of eight steroid hormones and CALIPER pediatric reference intervalsClinical Biochemistry201358
19Microvillus Inclusion Disease: Loss of Myosin Vb Disrupts Intracellular Traffic and Cell PolarityTraffic201456
20Doxorubicin-induced acute changes in cytotoxic aldehydes, antioxidant status and cardiac function in the ratBiochimica Et Biophysica Acta - Molecular Basis of Disease199755
21Decitabine-Induced Demethylation of 5′ CpG Island in GADD45A Leads to Apoptosis in Osteosarcoma CellsNeoplasia200854
22A ketogenic diet rescues the murine succinic semialdehyde dehydrogenase deficient phenotypeExperimental Neurology200854
23Experience With Hemophagocytic Lymphohistiocytosis/Macrophage Activation Syndrome at a Single InstitutionJournal of Pediatric Hematology/Oncology200952
24Maternal–fetal–infant dynamics of the C3-epimer of 25-hydroxyvitamin DClinical Biochemistry201450
25Integrin-Linked Kinase Mediates Bone Morphogenetic Protein 7-Dependent Renal Epithelial Cell MorphogenesisMolecular and Cellular Biology200547
26SATB2 enhances migration and invasion in osteosarcoma by regulating genes involved in cytoskeletal organizationOncogene201547
27Dural Tissue Trauma and Cerebrospinal Fluid Leak after Epidural Needle PunctureAnesthesiology200346
28Melanotic Neuroectodermal Tumor of Infancy: A Molecular Genetic StudyPediatric and Developmental Pathology199844
29HER2 Amplification and Overexpression Is Not Present in Pediatric Osteosarcoma: A Tissue Microarray StudyPediatric and Developmental Pathology200543
30Verotoxin sensitivity of ECV304 cells in vitro and in vivo in a xenograft tumour model: VT1 as a tumour neovascular markerAngiogenesis200342
31Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorderEuropean Journal of Human Genetics201442
32Activity of a novel antimicrobial peptide against Pseudomonas aeruginosa biofilmsScientific Reports201842
33Determination of hydroxyl radicals using salicylate as a trapping agent by gas chromatography-mass spectrometryClinical Biochemistry199741
34Spontaneous Rupture of Atrioventricular Valve Tensor Apparatus as Late Manifestation of Anti-Ro/SSA Antibody-Mediated Cardiac DiseaseAmerican Journal of Cardiology201140
35Inhibition of Multidrug Resistance by AdamantylGb3, a Globotriaosylceramide AnalogJournal of Biological Chemistry200836
36Sudden Unexpected Death in Infancy and Childhood Due to Undiagnosed NeoplasiaAmerican Journal of Forensic Medicine and Pathology200635
37Detection of Bordetella pertussis in clinical specimens by PCR and a microtiter plate-based DNA hybridization assayJournal of Clinical Microbiology199734
38Severe intellectual disability and autistic features associated with microduplication 2q23.1European Journal of Human Genetics201231
39Primary Cutaneous Lymphomas in Children and AdolescentsPediatric Blood and Cancer201629
40Coronavirus Activates an Altruistic Stem Cell–Mediated Defense Mechanism that Reactivates Dormant TuberculosisAmerican Journal of Pathology202129
41Vascular response to a third generation everolimus-eluting stentEuroIntervention201029
42Effects of purine nucleoside phosphorylase deficiency on thymocyte developmentJournal of Allergy and Clinical Immunology201127
43Pediatric reference value distributions for vitamins A and E in the CALIPER cohort and establishment of age-stratified reference intervalsClinical Biochemistry201427
44Influence of fasting and sample collection time on 38 biochemical markers in healthy children: A CALIPER substudyClinical Biochemistry201225
45Requirements for Ectopic Homologous Recombination in Mammalian Somatic CellsMolecular and Cellular Biology199624
46Pediatric DrowningAmerican Journal of Forensic Medicine and Pathology200623
47Laboratory reference intervals in the assessment of iron status in young childrenBMJ Paediatrics Open201722
48Pediatric DrowningAmerican Journal of Forensic Medicine and Pathology200520
49Remote intrapulmonary spread of recurrent respiratory papillomatosis with malignant transformationPediatric Pulmonology200520
50Undiagnosed Heart Disease Leading to Sudden Unexpected Death in Childhood: A Retrospective StudyPediatrics201120