| # | Title | Journal | Year | Citations |
|---|
| 1 | Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 | American Journal of Medical Genetics, Part A | 2015 | 447 |
| 2 | CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders | American Journal of Human Genetics | 2001 | 294 |
| 3 | Intraarterial Injection of Muscle-Derived Cd34+Sca-1+ Stem Cells Restores Dystrophin in mdx Mice | Journal of Cell Biology | 2001 | 248 |
| 4 | CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia | European Journal of Human Genetics | 2005 | 216 |
| 5 | Autologous Transplantation of Muscle-Derived CD133+ Stem Cells in Duchenne Muscle Patients | Cell Transplantation | 2007 | 214 |
| 6 | Genetic Correction of Human Induced Pluripotent Stem Cells from Patients with Spinal Muscular Atrophy | Science Translational Medicine | 2012 | 180 |
| 7 | A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation | Neurology | 2004 | 146 |
| 8 | Use of Machine Learning to Identify Children with Autism and Their Motor Abnormalities | Journal of Autism and Developmental Disorders | 2015 | 146 |
| 9 | Human skin-derived stem cells migrate throughout forebrain and differentiate into astrocytes after injection into adult mouse brain | Journal of Neuroscience Research | 2004 | 129 |
| 10 | Stem cell therapy in stroke | Cellular and Molecular Life Sciences | 2009 | 119 |
| 11 | Parent–Teacher Agreement on Children's Problems in 21 Societies | Journal of Clinical Child and Adolescent Psychology | 2014 | 106 |
| 12 | Embryonic stem cell-derived neural stem cells improve spinal muscular atrophy phenotype in mice | Brain | 2010 | 98 |
| 13 | The lived experience of fathers of preterm infants in the Neonatal Intensive Care Unit: a systematic review of qualitative studies | Journal of Clinical Nursing | 2015 | 98 |
| 14 | Intolerance of Uncertainty in Eating Disorders: A Systematic Review and Meta‐Analysis | European Eating Disorders Review | 2017 | 97 |
| 15 | Mutations in α- and β-tubulin encoding genes: Implications in brain malformations | Brain and Development | 2015 | 94 |
| 16 | Tubulin genes and malformations of cortical development | European Journal of Medical Genetics | 2018 | 93 |
| 17 | Neurogenetics of developmental dyslexia: from genes to behavior through brain neuroimaging and cognitive and sensorial mechanisms | Translational Psychiatry | 2017 | 91 |
| 18 | Parents' presence and parent–infant closeness in 11 neonatal intensive care units in six European countries vary between and within the countries | Acta Paediatrica, International Journal of Paediatrics | 2017 | 89 |
| 19 | Brain tumors in children and adolescents: Cognitive and psychological disorders at different ages | Psycho-Oncology | 2005 | 87 |
| 20 | The Role of Omega-3 Fatty Acids in Developmental Psychopathology: A Systematic Review on Early Psychosis, Autism, and ADHD | International Journal of Molecular Sciences | 2017 | 87 |
| 21 | Therapeutic effect of Anakinra in the relapsing chronic phase of febrile infection–related epilepsy syndrome | Epilepsia Open | 2019 | 85 |
| 22 | Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy | Neuromuscular Disorders | 2014 | 83 |
| 23 | Pain-related stress during the Neonatal Intensive Care Unit stay and SLC6A4 methylation in very preterm infants | Frontiers in Behavioral Neuroscience | 2015 | 78 |
| 24 | Recommendations of the Scientific Committee of the Italian Beckwith–Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome | European Journal of Medical Genetics | 2016 | 76 |
| 25 | Serotonin Transporter Gene (SLC6A4) Methylation Associates With Neonatal Intensive Care Unit Stay and 3‐Month‐Old Temperament in Preterm Infants | Child Development | 2016 | 73 |
| 26 | Human motor neuron generation from embryonic stem cells and induced pluripotent stem cells | Cellular and Molecular Life Sciences | 2010 | 71 |
| 27 | Spatial and temporal attention in developmental dyslexia | Frontiers in Human Neuroscience | 2014 | 70 |
| 28 | Assessment and management of respiratory function in patients with Duchenne muscular dystrophy: current and emerging options | Therapeutics and Clinical Risk Management | 2015 | 70 |
| 29 | Cortico-Cerebellar Connectivity in Autism Spectrum Disorder: What Do We Know So Far? | Frontiers in Psychiatry | 2016 | 67 |
| 30 | Pain-related stress in the Neonatal Intensive Care Unit and salivary cortisol reactivity to socio-emotional stress in 3-month-old very preterm infants | Psychoneuroendocrinology | 2016 | 67 |
| 31 | Multipotentiality, homing properties, and pyramidal neurogenesis of CNS‐derived LeX(ssea‐1) + /CXCR4 + stem cells | FASEB Journal | 2005 | 65 |
| 32 | The DCDC2 Intron 2 Deletion Impairs Illusory Motion Perception Unveiling the Selective Role of Magnocellular-Dorsal Stream in Reading (Dis)ability | Cerebral Cortex | 2015 | 65 |
| 33 | Early neurodevelopmental assessment in Duchenne muscular dystrophy | Neuromuscular Disorders | 2013 | 63 |
| 34 | Effectiveness and tolerability of perampanel in children and adolescents with refractory epilepsies—An Italian observational multicenter study | Epilepsy Research | 2016 | 62 |
| 35 | From early stress to 12-month development in very preterm infants: Preliminary findings on epigenetic mechanisms and brain growth | PLoS ONE | 2018 | 60 |
| 36 | Identification of a putative pathway for the muscle homing of stem cells in a muscular dystrophy model | Journal of Cell Biology | 2003 | 59 |
| 37 | Survival of adults treated for medulloblastoma using paediatric protocols | European Journal of Cancer | 2005 | 56 |
| 38 | Reliability of postural control measures in children and young adolescents | European Archives of Oto-Rhino-Laryngology | 2014 | 56 |
| 39 | MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identified | Human Mutation | 2007 | 55 |
| 40 | Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy | Neuromuscular Disorders | 2016 | 55 |
| 41 | Consensus statement on physical rehabilitation in children and adolescents with osteogenesis imperfecta | Orphanet Journal of Rare Diseases | 2018 | 55 |
| 42 | Beyond the HPA-axis: Exploring maternal prenatal influences on birth outcomes and stress reactivity | Psychoneuroendocrinology | 2019 | 55 |
| 43 | Neuropsychiatric sequelae in TBI: a comparison across different age groups | Brain Injury | 2003 | 54 |
| 44 | Chemotactic Factors Enhance Myogenic Cell Migration across an Endothelial Monolayer | Experimental Cell Research | 2001 | 52 |
| 45 | KIAA0319 and ROBO1: evidence on association with reading and pleiotropic effects on language and mathematics abilities in developmental dyslexia | Journal of Human Genetics | 2014 | 52 |
| 46 | The pharmacological management of Lennox-Gastaut syndrome and critical literature review | Seizure: the Journal of the British Epilepsy Association | 2018 | 52 |
| 47 | Psychological intervention in young brain tumor survivors: The efficacy of the cognitive behavioural approach | Disability and Rehabilitation | 2009 | 50 |
| 48 | Fas small interfering RNA reduces motoneuron death in amyotrophic lateral sclerosis mice | Annals of Neurology | 2007 | 47 |
| 49 | Auditory discrimination predicts linguistic outcome in Italian infants with and without familial risk for language learning impairment | Developmental Cognitive Neuroscience | 2016 | 47 |
| 50 | Assessing mental health in boys with Duchenne muscular dystrophy: Emotional, behavioural and neurodevelopmental profile in an Italian clinical sample | European Journal of Paediatric Neurology | 2017 | 46 |
