| # | Title | Journal | Year | Citations |
|---|
| 1 | Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients | European Journal of Human Genetics | 2010 | 114 |
| 2 | Educational outcome in adolescence following pyloric stenosis repair before 3 months of age: a nationwide cohort study | Paediatric Anaesthesia | 2013 | 92 |
| 3 | Hamartomatous polyposis syndromes: A review | Orphanet Journal of Rare Diseases | 2014 | 84 |
| 4 | Clinical Features of Multiple Endocrine Neoplasia Type 4: Novel Pathogenic Variant and Review of Published Cases | Journal of Clinical Endocrinology and Metabolism | 2019 | 83 |
| 5 | How should patients with cystine stone disease be evaluated and treated in the twenty-first century? | Urolithiasis | 2016 | 57 |
| 6 | A Genome-Wide Association Study of Monozygotic Twin-Pairs Suggests a Locus Related to Variability of Serum High-Density Lipoprotein Cholesterol | Twin Research and Human Genetics | 2012 | 50 |
| 7 | The expression landscape of cachexia‐inducing factors in human cancers | Journal of Cachexia, Sarcopenia and Muscle | 2020 | 47 |
| 8 | Circulating miRNAs as Potential Biomarkers Associated with Cardiac Remodeling and Fibrosis in Chagas Disease Cardiomyopathy | International Journal of Molecular Sciences | 2019 | 44 |
| 9 | Incidence, Prevalence, Etiology, and Prognosis of First-Time Chronic Pancreatitis in Young Patients: A Nationwide Cohort Study | Digestive Diseases and Sciences | 2010 | 42 |
| 10 | Integration of miRNA and mRNA expression profiles reveals microRNA-regulated networks during muscle wasting in cardiac cachexia | Scientific Reports | 2017 | 42 |
| 11 | A new marker set that identifies fetal cells in maternal circulation with high specificity | Prenatal Diagnosis | 2014 | 40 |
| 12 | The distribution pattern of critically short telomeres in human osteoarthritic knees | Arthritis Research and Therapy | 2012 | 35 |
| 13 | MicroRNA modulated networks of adaptive and innate immune response in pancreatic ductal adenocarcinoma | PLoS ONE | 2019 | 33 |
| 14 | Immunohistochemical panel to characterize canine prostate carcinomas according to aberrant p63 expression | PLoS ONE | 2018 | 32 |
| 15 | Genome-Wide Expression Analysis of Human In Vivo Irritated Epidermis: Differential Profiles Induced by Sodium Lauryl Sulfate and Nonanoic Acid | Journal of Investigative Dermatology | 2010 | 30 |
| 16 | Loss of DNA methylation is related to increased expression of miR-21 and miR-146b in papillary thyroid carcinoma | Clinical Epigenetics | 2018 | 27 |
| 17 | Neurosurgical conditions and procedures in infancy are associated with mortality and academic performances in adolescence: a nationwide cohort study | Paediatric Anaesthesia | 2015 | 26 |
| 18 | Tumor Transcriptome Reveals High Expression of IL-8 in Non-Small Cell Lung Cancer Patients with Low Pectoralis Muscle Area and Reduced Survival | Cancers | 2019 | 26 |
| 19 | The genetic component of human longevity: New insights from the analysis of pathway‐based SNP‐SNP interactions | Aging Cell | 2018 | 24 |
| 20 | Comprehensive Genomic Profiling of Androgen-Receptor-Negative Canine Prostate Cancer | International Journal of Molecular Sciences | 2019 | 23 |
| 21 | Supportive care in the acute phase of Stevens–Johnson syndrome and toxic epidermal necrolysis: an international, multidisciplinary Delphi‐based consensus | British Journal of Dermatology | 2021 | 22 |
| 22 | Age Validation in the Long Life Family Study Through a Linkage to Early-Life Census Records | Journals of Gerontology - Series B Psychological Sciences and Social Sciences | 2013 | 21 |
| 23 | Acid-base transporters and pH dynamics in human breast carcinomas predict proliferative activity, metastasis, and survival | ELife | 2021 | 21 |
| 24 | Psychiatric Diagnoses in Individuals with Non-Syndromic Oral Clefts: A Danish Population-Based Cohort Study | PLoS ONE | 2016 | 21 |
| 25 | Deregulation of E-cadherin, β-catenin, APC and Caveolin-1 expression occurs in canine prostate cancer and metastatic processes | Research in Veterinary Science | 2018 | 20 |
| 26 | DNA Methylation-Based Method to Differentiate Malignant from Benign Thyroid Lesions | Thyroid | 2019 | 19 |
| 27 | Epigenetics in Inflammatory Breast Cancer: Biological Features and Therapeutic Perspectives | Cells | 2020 | 18 |
| 28 | Musculoskeletal pain and physical functioning in the oldest old | European Journal of Pain | 2014 | 17 |
| 29 | Testosterone treatment increases androgen receptor and aromatase gene expression in myotubes from patients with PCOS and controls, but does not induce insulin resistance | Biochemical and Biophysical Research Communications | 2014 | 17 |
| 30 | Comprehensive germline mutation analysis and clinical profile in a large cohort of Brazilian xeroderma pigmentosum patients | Journal of the European Academy of Dermatology and Venereology | 2020 | 17 |
| 31 | Fetal Gender and Several Cytokines Are Associated with the Number of Fetal Cells in Maternal Blood – An Observational Study | PLoS ONE | 2014 | 17 |
| 32 | Microselection – affinity selecting antibodies against a single rare cell in a heterogeneous population | Journal of Cellular and Molecular Medicine | 2010 | 16 |
| 33 | Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency | Orphanet Journal of Rare Diseases | 2014 | 16 |
| 34 | Heritability of eleven metabolic phenotypes in Danish and Chinese twins: A cross‐population comparison | Obesity | 2013 | 15 |
| 35 | PFKFB2 Promoter Hypomethylation as Recurrence Predictive Marker in Well-Differentiated Thyroid Carcinomas | International Journal of Molecular Sciences | 2019 | 15 |
| 36 | GADD45B Transcript Is a Prognostic Marker in Papillary Thyroid Carcinoma Patients Treated With Total Thyroidectomy and Radioiodine Therapy | Frontiers in Endocrinology | 2020 | 15 |
| 37 | Is previous hyperthyroidism associated with long‐term cognitive dysfunction? A twin study | Clinical Endocrinology | 2014 | 14 |
| 38 | MicroRNAs involved in theHMGA2deregulation and its co-occurrence withMED12mutation in uterine leiomyoma | Molecular Human Reproduction | 2018 | 14 |
| 39 | Exome-Wide Association Study Identifies FN3KRP and PGP as New Candidate Longevity Genes | Journals of Gerontology - Series A Biological Sciences and Medical Sciences | 2021 | 14 |
| 40 | Global gene expression profiling of telangiectasial tissue from patients with hereditary hemorrhagic telangiectasia | Microvascular Research | 2015 | 13 |
| 41 | Innate signaling within the central nervous system recruits protective neutrophils | Acta Neuropathologica Communications | 2020 | 13 |
| 42 | Circulating mRNA signature as a marker for high-risk prostate cancer | Carcinogenesis | 2020 | 12 |
| 43 | Multiple Sclerosis Atlas: A Molecular Map of Brain Lesion Stages in Progressive Multiple Sclerosis | Network and Systems Medicine | 2020 | 12 |
| 44 | Increased DSG2 plasmatic levels identified by transcriptomic-based secretome analysis is a potential prognostic biomarker in laryngeal carcinoma | Oral Oncology | 2020 | 12 |
| 45 | Birth Weight and Adult Bone Metabolism Are Unrelated: Results From Birth Weight–Discordant Monozygotic Twins | Journal of Bone and Mineral Research | 2013 | 9 |
| 46 | Advanced Parental Age at Conception and Sex Affects Mitochondrial DNA Copy Number in Human and Fruit Flies | Journals of Gerontology - Series A Biological Sciences and Medical Sciences | 2019 | 9 |
| 47 | The genetic basis of oral leukoplakia and its key role in understanding oral carcinogenesis | Journal of Oral Pathology and Medicine | 2021 | 9 |
| 48 | Penile Cancer-Derived Cells Molecularly Characterized as Models to Guide Targeted Therapies | Cells | 2021 | 9 |
| 49 | Central Nervous System-Endogenous TLR7 and TLR9 Induce Different Immune Responses and Effects on Experimental Autoimmune Encephalomyelitis | Frontiers in Neuroscience | 2021 | 9 |
| 50 | Is the SPINK1 variant p.N34S overrepresented in patients with acute pancreatitis? | European Journal of Gastroenterology and Hepatology | 2012 | 8 |
