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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 |
| 36373849 | The developmental trajectories of the behavioral phenotype and neuropsychiatric functioning in Cornelia de Lange and Rubinstein Taybi syndromes: A longitudinal study. | American Journal of Medical Genetics, Part A | 2023 |
| 36420948 | Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy. | American Journal of Medical Genetics, Part A | 2023 |
| 38041506 | Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study. | | 2023 |
| 37758167 | How pain affect real life of children and adults with achondroplasia: A systematic review. | | 2023 |
| 37927205 | Application of the Face2Gene tool in an Italian dysmorphological pediatric clinic: Retrospective validation and future perspectives. | | 2023 |
| 37400878 | Celiac disease in autism spectrum disorder: data from an Italian child cohort. | | 2023 |
| 37141407 | Multiple facial angiofibromas: A manifestation of Frank-ter Haar syndrome? | | 2023 |
| 37079061 | Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility. | | 2023 |
| 37455311 | Nasal polyposis in pediatric patients with Cornelia de Lange syndrome: endoscopic diagnosis, treatment and follow up in two case reports. | | 2023 |
| 37365619 | Real-world evidence in achondroplasia: considerations for a standardized data set. | Orphanet J Rare Dis | 2023 |
| 37041148 | FOXI3 pathogenic variants cause one form of craniofacial microsomia. | Nat Commun | 2023 |
| 37529781 | Case report: a typical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum. | | 2023 |
| 36976648 | CERT1 mutations perturb human development by disrupting sphingolipid homeostasis. | J Clin Invest | 2023 |
| 35243770 | Cantù syndrome: Report of a patient with a novel variant in KCNJ8 and revision of literature. | American Journal of Medical Genetics, Part A | 2022 |
| 35840571 | SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice. | Nat Commun | 2022 |
| 36369169 | Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish. | Nat Commun | 2022 |
| 35698202 | Literature review and expert opinion on the impact of achondroplasia on medical complications and health-related quality of life and expectations for long-term impact of vosoritide: a modified Delphi study. | Orphanet J Rare Dis | 2022 |
| 35441248 | Drooling outcome measures in paediatric disability: a systematic review. | European Journal of Pediatrics | 2022 |
| 35682590 | Expanding the Molecular Spectrum of Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome. | International Journal of Molecular Sciences | 2022 |
| 35670300 | A missense mutation in DDRGK1 gene associated to Shohat-type spondyloepimetaphyseal dysplasia: Two case reports and a review of literature. | American Journal of Medical Genetics, Part A | 2022 |
| 35468572 | Age-related hallmarks of psychopathology in Cornelia de Lange and Rubinstein-Taybi syndromes. | Research in Developmental Disabilities | 2022 |
| 34561316 | Colon hypoganglionosis in Beckwith-Wiedemann syndrome: a new rare comorbidity? | Clinical Dysmorphology | 2022 |
| 34906459 | DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies. | Genetics in Medicine | 2022 |
| 34837063 | International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia. | Nat Rev Endocrinol | 2022 |
| 34751866 | Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype Correlation. | Journal of Autism and Developmental Disorders | 2022 |
| 35050212 | Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management. | Journal of Cardiovascular Development and Disease | 2021 |
| 33910094 | Burden of care in families of patients with rare genetic diseases: analysis of a large Italian cohort. | European Journal of Medical Genetics | 2021 |
| 33955014 | ANKRD11 variants: KBG syndrome and beyond. | Clin Genet | 2021 |
| 34199721 | Caregiver Social Status and Health-Related Quality of Life in Neurologically Impaired Children on Home Enteral Nutrition. | Nutrients | 2021 |
| 33920573 | Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases. | Genes (Basel) | 2021 |
| 33597506 | Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome. | Cell Death Discovery | 2021 |
| 33596411 | SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. | Am J Hum Genet | 2021 |
| 34326454 | Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood. | Sci Rep | 2021 |
| 34356091 | Cornelia de Lange Syndrome: From a Disease to a Broader Spectrum. | Genes | 2021 |
| 33086257 | A novel HIST1HE pathogenic variant in a girl with macrocephaly and intellectual disability: a new case and review of literature. | Clinical Dysmorphology | 2021 |
| 33174385 | Pulmonary function in Williams-Beuren syndrome: Spirometric data of 22 Italian patients. | American Journal of Medical Genetics, Part A | 2021 |
| 32622956 | Williams-Beuren Syndrome and celiac disease: A real association? | European Journal of Medical Genetics | 2020 |
| 32170002 | Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder. | J Med Genet | 2020 |
| 31721174 | Chromatinopathies: A focus on Cornelia de Lange syndrome. | Clinical Genetics | 2020 |
| 31567426 | Dual genetic diagnoses: neurofibromatosis type 1 and KBG syndrome. | Clinical Dysmorphology | 2020 |
| 32286744 | Aortic dilation in Sotos syndrome: An underestimated feature? | American Journal of Medical Genetics, Part A | 2020 |
| 31929334 | Haploinsufficiency of AKT3 gene causing microcephaly and psychomotor delay in a patient with 1q43q44 microdeletion. | Clin Dysmorphol | 2020 |
| 32436647 | Nissen fundoplication in Cornelia de Lange syndrome spectrum: Who are the potential candidates? | American Journal of Medical Genetics, Part A | 2020 |
| 32031333 | De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype. | Am J Med Genet A | 2020 |
| 32648352 | Complex nutritional deficiencies in a large cohort of Italian patients with Cornelia de Lange syndrome spectrum. | American Journal of Medical Genetics, Part A | 2020 |
| 32578344 | The dark side of COVID-19: The need of integrated medicine for children with special care needs. | American Journal of Medical Genetics, Part A | 2020 |
| 32910914 | De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity. | American Journal of Human Genetics | 2020 |
| 32850830 | Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery. | Frontiers in Cell and Developmental Biology | 2020 |
| 30829192 | Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes. | Genet Res (Camb) | 2019 |