| # | Title | Journal | Year | Citations |
|---|
| 1 | Genetic diagnosis of Mendelian disorders via RNA sequencing | Nature Communications | 2017 | 432 |
| 2 | The galanin peptide family: Receptor pharmacology, pleiotropic biological actions, and implications in health and disease | | 2007 | 336 |
| 3 | No evidence for a shift in pyruvate kinase PKM1 to PKM2 expression during tumorigenesis | Oncotarget | 2011 | 216 |
| 4 | TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy | Nature Genetics | 2008 | 183 |
| 5 | Rates of Diabetic Ketoacidosis: International Comparison With 49,859 Pediatric Patients With Type 1 Diabetes From England, Wales, the U.S., Austria, and Germany | Diabetes Care | 2015 | 178 |
| 6 | Loss of Complex I due to Mitochondrial DNA Mutations in Renal Oncocytoma | Clinical Cancer Research | 2008 | 154 |
| 7 | Inhibition of Neuroblastoma Tumor Growth by Ketogenic Diet and/or Calorie Restriction in a CD1-Nu Mouse Model | PLoS ONE | 2015 | 149 |
| 8 | Muscle Strength and Fitness in Pediatric Obesity: a Systematic Review from the European Childhood Obesity Group | Obesity Facts | 2016 | 148 |
| 9 | Mitochondria: The ketogenic diet—A metabolism-based therapy | International Journal of Biochemistry and Cell Biology | 2015 | 141 |
| 10 | Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 subunit | Human Molecular Genetics | 2010 | 133 |
| 11 | ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy | American Journal of Human Genetics | 2013 | 127 |
| 12 | Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy | American Journal of Human Genetics | 2014 | 123 |
| 13 | A ketogenic diet supplemented with medium-chain triglycerides enhances the anti-tumor and anti-angiogenic efficacy of chemotherapy on neuroblastoma xenografts in a CD1-nu mouse model | Oncotarget | 2017 | 116 |
| 14 | Thiamine Pyrophosphokinase Deficiency in Encephalopathic Children with Defects in the Pyruvate Oxidation Pathway | American Journal of Human Genetics | 2011 | 107 |
| 15 | Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy | Journal of Medical Genetics | 2016 | 105 |
| 16 | Lipoic Acid Synthetase Deficiency Causes Neonatal-Onset Epilepsy, Defective Mitochondrial Energy Metabolism, and Glycine Elevation | American Journal of Human Genetics | 2011 | 104 |
| 17 | Neuroendocrinology of the hair follicle: principles and clinical perspectives | Trends in Molecular Medicine | 2014 | 104 |
| 18 | Antibodies to MOG and AQP4 in children with neuromyelitis optica and limited forms of the disease | Journal of Neurology, Neurosurgery and Psychiatry | 2016 | 98 |
| 19 | Mitochondrial DNA haplogroup T is associated with coronary artery disease and diabetic retinopathy: a case control study | BMC Medical Genetics | 2009 | 93 |
| 20 | Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement | Annals of Clinical and Translational Neurology | 2015 | 90 |
| 21 | COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency | American Journal of Human Genetics | 2015 | 86 |
| 22 | New Aspects on the Structure of Neutrophil Extracellular Traps from Chronic Obstructive Pulmonary Disease and In Vitro Generation | PLoS ONE | 2014 | 78 |
| 23 | Hypothalamic–Pituitary–Thyroid Axis Hormones Stimulate Mitochondrial Function and Biogenesis in Human Hair Follicles | Journal of Investigative Dermatology | 2014 | 76 |
| 24 | NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood | American Journal of Human Genetics | 2016 | 75 |
| 25 | Low aerobic mitochondrial energy metabolism in poorly- or undifferentiated neuroblastoma | BMC Cancer | 2010 | 72 |
| 26 | Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation | Archives of Disease in Childhood | 2010 | 72 |
| 27 | Mitochondrial dysfunction: a neglected component of skin diseases | Experimental Dermatology | 2014 | 71 |
| 28 | The Mitochondrial T16189C Polymorphism Is Associated with Coronary Artery Disease in Middle European Populations | PLoS ONE | 2011 | 70 |
| 29 | Alterations of oxidative phosphorylation complexes in astrocytomas | Glia | 2014 | 69 |
| 30 | Phenotypes and genotypes in individuals with SMC1A variants | American Journal of Medical Genetics, Part A | 2017 | 69 |
| 31 | Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis | Journal of Inherited Metabolic Disease | 2012 | 65 |
| 32 | Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening | Molecular Genetics and Metabolism | 2014 | 65 |
| 33 | Physical Activity Is Associated with Attention Capacity in Adolescents | Journal of Pediatrics | 2016 | 65 |
| 34 | Physical Activity, Screen Time, and Sleep Duration of Children Aged 6–9 Years in 25 Countries: An Analysis within the WHO European Childhood Obesity Surveillance Initiative (COSI) 2015–2017 | Obesity Facts | 2021 | 64 |
| 35 | The galanin peptide family in inflammation | Neuropeptides | 2011 | 63 |
| 36 | Nutritional Assessment in Preterm Infants: A Practical Approach in the NICU | Nutrients | 2019 | 63 |
| 37 | Ultra-Processed Food Consumption among the Paediatric Population: An Overview and Call to Action from the European Childhood Obesity Group | Annals of Nutrition and Metabolism | 2020 | 63 |
| 38 | Modification and Validation of the Triglyceride-to–HDL Cholesterol Ratio as a Surrogate of Insulin Sensitivity in White Juveniles and Adults without Diabetes Mellitus: The Single Point Insulin Sensitivity Estimator (SPISE) | Clinical Chemistry | 2016 | 61 |
| 39 | Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies | American Journal of Human Genetics | 2018 | 61 |
| 40 | Alarin is a vasoactive peptide | Proceedings of the National Academy of Sciences of the United States of America | 2007 | 60 |
| 41 | Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts | Human Molecular Genetics | 2014 | 60 |
| 42 | Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder | American Journal of Human Genetics | 2018 | 59 |
| 43 | Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies | American Journal of Human Genetics | 2017 | 58 |
| 44 | Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype | American Journal of Human Genetics | 2016 | 57 |
| 45 | Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study | The Lancet Child and Adolescent Health | 2022 | 57 |
| 46 | Prevalence of Metabolically Healthy but Overweight/Obese Phenotype and Its Association With Sedentary Time, Physical Activity, and Fitness | Journal of Adolescent Health | 2017 | 55 |
| 47 | Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy | American Journal of Human Genetics | 2017 | 55 |
| 48 | BOLA (BolA Family Member 3) Deficiency Controls Endothelial Metabolism and Glycine Homeostasis in Pulmonary Hypertension | Circulation | 2019 | 54 |
| 49 | Mitochondrial Haplogroups and Control Region Polymorphisms in Age-Related Macular Degeneration: A Case-Control Study | PLoS ONE | 2012 | 54 |
| 50 | Fat and Fat-Free Mass of Preterm and Term Infants from Birth to Six Months: A Review of Current Evidence | Nutrients | 2020 | 53 |
