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| 35256403 | Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants. | Journal of Medical Genetics | 2023 |
| 36113118 | Multimodal ocular imaging in Proteus syndrome. | European Journal of Ophthalmology | 2023 |
| 35794250 | RASopathies and sigmoid-shaped ventricular septum morphology: evidence of a previously unappreciated cardiac phenotype. | Pediatric Research | 2023 |
| 36322151 | Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature. | Genet Med | 2023 |
| 37761412 | Metabolic Profile of Patients with Smith-Magenis Syndrome: An Observational Study with Literature Review. | | 2023 |
| 37758167 | How pain affect real life of children and adults with achondroplasia: A systematic review. | | 2023 |
| 37943120 | Status epilepticus in BRAF-related cardio-facio-cutaneous syndrome: focus on neuroimaging clues to physiopathology. | | 2023 |
| 37662770 | Acute and post-acute multidisciplinary outcomes of newborns born from mothers with SARS-CoV-2 infection during pregnancy or the perinatal period. | | 2023 |
| 37895192 | From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 Syndrome. | | 2023 |
| 37982346 | Validation and cross-cultural adaptation of the Italian version of the paediatric eating assessment tool (I-PEDI-EAT-10) in genetic syndromes. | | 2023 |
| 37793491 | Aberrant N-myristoylation as a prelude to autoimmune manifestations in patients with SHOC2 mutations. | | 2023 |
| 37697822 | Systematic ophthalmologic evaluation in cardio-facio-cutaneous syndrome: A genotype-endophenotype correlation. | | 2023 |
| 37475046 | Bladder and bowel dysfunction in Down syndrome with neural tube defect: case report and review of the literature. | | 2023 |
| 37084633 | Efficacy and safety of growth hormone therapy in children with Noonan syndrome. | | 2023 |
| 36765418 | UPDATE - 2022 Italian guidelines on the management of bronchiolitis in infants. | | 2023 |
| 37073325 | Risk factors for post-COVID-19 condition (Long Covid) in children: a prospective cohort study. | | 2023 |
| 36757675 | Further case of enlarged spinal nerve roots in KRAS-related Noonan syndrome. | Clin Genet | 2023 |
| 37455656 | Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness. | | 2023 |
| 37455311 | Nasal polyposis in pediatric patients with Cornelia de Lange syndrome: endoscopic diagnosis, treatment and follow up in two case reports. | | 2023 |
| 37064340 | Novel Variant in the Gene Is Associated with Congenital Heart Disease in a Male Patient: A Case Report and Literature Review. | | 2023 |
| 36938946 | Risk of long Covid in children infected with Omicron or pre-Omicron SARS-CoV-2 variants. | | 2023 |
| 36868207 | Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy. | Am J Hum Genet | 2023 |
| 36800035 | Predicting the clinical trajectory of feeding and swallowing abilities in CHARGE syndrome. | | 2023 |
| 37305037 | Long-term effects of GH therapy in adult patients with Prader-Willi syndrome: a longitudinal study. | | 2023 |
| 37303754 | Case report: Post-COVID new-onset neurocognitive decline with bilateral mesial-temporal hypometabolism in two previously healthy sisters. | | 2023 |
| 37182847 | A newborn with ectrodactyly, tetralogy of Fallot, esophageal atresia, hypospadias and TP63 gene mutation: A new type of EEC Syndrome? | | 2023 |
| 36795000 | Admissions for acute cardiac inflammatory events or chest pain before and after the severe acute respiratory syndrome coronavirus 2 was in circulation. | | 2023 |
| 36734311 | Cross-cultural adaptation and validation of the Italian version of the Montreal Children's Hospital Feeding Scale in a special healthcare needs population. | | 2023 |
| 36672940 | What to Expect of Feeding Abilities and Nutritional Aspects in Achondroplasia Patients: A Narrative Review. | | 2023 |
| 36672887 | Insights into the Cardiac Phenotype in 9p Deletion Syndrome: A Multicenter Italian Experience and Literature Review. | | 2023 |
| 36528028 | Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy. | Am J Hum Genet | 2023 |
| 37510243 | The "FEEDS (FEeding Eating Deglutition Skills)" over Time Study in Cardiofaciocutaneous Syndrome. | | 2023 |
| 37486600 | Acrodermatitis enteropathica during parenteral nutrition: a pediatric case report. | | 2023 |
| 35101635 | Metabolic profiling of Costello syndrome: Insights from a single-center cohort. | European Journal of Medical Genetics | 2022 |
| 35396703 | SHP2's gain-of-function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction. | Clin Genet | 2022 |
| 35461998 | SARS-CoV-2 vaccine humoral response in adults with Down syndrome. | Clinical Microbiology and Infection | 2022 |
| 35458140 | Intestinal Permeability in Children with Functional Gastrointestinal Disorders: The Effects of Diet. | Nutrients | 2022 |
| 36360375 | Comparison between Short Therapy and Standard Therapy in Pediatric Patients Hospitalized with Urinary Tract Infection: A Single Center Retrospective Analysis. | Children | 2022 |
| 35955979 | Recovering or Persisting: The Immunopathological Features of SARS-CoV-2 Infection in Children. | Journal of Clinical Medicine | 2022 |
| 35894438 | Prevalence of gastrointestinal disorders in individuals with RASopathies: May RAS/MAP/ERK pathway dysfunctions be a model of neuropathic pain and visceral hypersensitivity? | American Journal of Medical Genetics, Part A | 2022 |
| 35441248 | Drooling outcome measures in paediatric disability: a systematic review. | European Journal of Pediatrics | 2022 |
| 36012925 | Obsessive Compulsive "Paper Handling": A Potential Distinctive Behavior in Children and Adolescents with KBG Syndrome. | Journal of Clinical Medicine | 2022 |
| 35691933 | Thoracolumbar stenosis and neurologic symptoms: Quantitative MRI in achondroplasia. | Journal of Neuroimaging | 2022 |
| 35434845 | Pulmonary artery sling in a 22-month-old boy with 18q deletion syndrome: A rare but possible association. | Echocardiography | 2022 |
| 35373511 | Smith Magenis syndrome: First case of congenital heart defect in a patient with Rai1 mutation. | American Journal of Medical Genetics, Part A | 2022 |
| 35677617 | Multidisciplinary Management of Costello Syndrome: Current Perspectives. | Journal of Multidisciplinary Healthcare | 2022 |
| 36421837 | Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying <i>NSD1</i> Variants. | Genes (Basel) | 2022 |
| 36411275 | Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome. | Cell Death Dis | 2022 |
| 36448195 | Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype. | Am J Med Genet C Semin Med Genet | 2022 |
| 35977029 | De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders. | Sci Adv | 2022 |