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| 33820410 | Remember Friedreich ataxia even in a toddler with apparently isolated dilated (not hypertrophic!) cardiomyopathy. Revisited. | Minerva Pediatr (Torino) | 2023 |
| 36224108 | Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype. | Clin Genet | 2023 |
| 37923896 | Williams-Beuren syndrome shapes the gut microbiota metaproteome. | | 2023 |
| 37328513 | Analysis of gut microbiota in patients with Williams-Beuren Syndrome reveals dysbiosis linked to clinical manifestations. | | 2023 |
| 37373888 | Organizational Aspects of the Implementation and Use of Whole Genome Sequencing and Whole Exome Sequencing in the Pediatric Population in Italy: Results of a Survey. | J Pers Med | 2023 |
| 37238595 | Deep Intronic LINE-1 Insertions in : Expanding the Spectrum of Neurofibromatosis Type 1-Associated Rearrangements. | | 2023 |
| 36681873 | A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing. | Genet Med | 2023 |
| 37231492 | Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment. | Arch Public Health | 2023 |
| 37041148 | FOXI3 pathogenic variants cause one form of craniofacial microsomia. | Nat Commun | 2023 |
| 36599940 | Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome. | Eur J Hum Genet | 2023 |
| 34590674 | Relationship between glucose homeostasis and obesity in early life-a study of Italian children and adolescents. | Human Molecular Genetics | 2022 |
| 35396703 | SHP2's gain-of-function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction. | Clin Genet | 2022 |
| 35464479 | Case Report: Precision COVID-19 Immunization Strategy to Overcome Individual Fragility: A Case of Generalized Lipodystrophy Type 4. | Frontiers in Immunology | 2022 |
| 36369169 | Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish. | Nat Commun | 2022 |
| 36361691 | A Complex Genomic Rearrangement Resulting in Loss of Function of and in a Patient with Severe Developmental and Epileptic Encephalopathy. | International Journal of Molecular Sciences | 2022 |
| 36034498 | Teleost Fish and Organoids: Alternative Windows Into the Development of Healthy and Diseased Brains. | Frontiers in Molecular Neuroscience | 2022 |
| 35879407 | Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1. | European Journal of Human Genetics | 2022 |
| 35627274 | Complex Presentation of Hao-Fountain Syndrome Solved by Exome Sequencing Highlighting Co-Occurring Genomic Variants. | Genes (Basel) | 2022 |
| 36421837 | Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying <i>NSD1</i> Variants. | Genes (Basel) | 2022 |
| 34052095 | Cross-correlation of virome-bacteriome-host-metabolome to study respiratory health. | Trends in Microbiology | 2022 |
| 33397746 | Biallelic variants in <i>ZNF526</i> cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration. | J Med Genet | 2022 |
| 35064218 | Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features. | Nat Genet | 2022 |
| 35317923 | Incremental net benefit of whole genome sequencing for newborns and children with suspected genetic disorders: Systematic review and meta-analysis of cost-effectiveness evidence. | Health Policy | 2022 |
| 35238482 | Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X, DDX3X, and CASK genes in two patients with syndromic intellectual disability. | American Journal of Medical Genetics, Part A | 2022 |
| 34971082 | Congenital heart defects in molecularly confirmed KBG syndrome patients. | American Journal of Medical Genetics, Part A | 2022 |
| 34763108 | Congenital heart defects in the recurrent 2q13 deletion syndrome. | European Journal of Medical Genetics | 2022 |
| 34626534 | SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype. | Am J Hum Genet | 2021 |
| 34124035 | Functional Genomics for Undiagnosed Patients: The Impact of Small GTPases Signaling Dysregulation at Pan-Embryo Developmental Scale. | Frontiers in Cell and Developmental Biology | 2021 |
| 33530447 | Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS). | Int J Mol Sci | 2021 |
| 33733458 | Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene. | Clinical Genetics | 2021 |
| 34042254 | TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study. | Am J Med Genet A | 2021 |
| 33451138 | Homozygous and Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis. | International Journal of Molecular Sciences | 2021 |
| 33988253 | Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects. | Clin Genet | 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 |
| 33098373 | Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profile. | American Journal of Medical Genetics, Part A | 2021 |
| 33308444 | SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling. | Am J Hum Genet | 2021 |
| 32747439 | Biallelic mutations in the gene cause a novel primary ciliopathy. | Journal of Medical Genetics | 2021 |
| 33409881 | Clinical Application of Easychip 8x15K Platform in 4106 Pregnancies Without Ultrasound Anomalies. | Reproductive Sciences | 2021 |
| 32721402 | Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum. | Am J Hum Genet | 2020 |
| 31600839 | Skeletal abnormalities are common features in Aymé-Gripp syndrome. | Clin Genet | 2020 |
| 32080096 | The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature review. | Medicine (United States) | 2020 |
| 32319738 | Differences in morbidity and mortality in Down syndrome are related to the type of congenital heart defect. | American Journal of Medical Genetics, Part A | 2020 |
| 32369449 | Deficiency of MFSD7c results in microcephaly-associated vasculopathy in Fowler syndrome. | J Clin Invest | 2020 |
| 32415735 | Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome. | Clin Genet | 2020 |
| 32124548 | KBG syndrome: Common and uncommon clinical features based on 31 new patients. | American Journal of Medical Genetics, Part A | 2020 |
| 31729175 | Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis. | American Journal of Medical Genetics, Part A | 2020 |
| 32164589 | Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review. | BMC Pediatr | 2020 |
| 32334637 | Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders. | Orphanet J Rare Dis | 2020 |
| 32985083 | PPP1R21-related syndromic intellectual disability: Report of an adult patient and review. | Am J Med Genet A | 2020 |
| 33036309 | Fused Omics Data Models Reveal Gut Microbiome Signatures Specific of Inactive Stage of Juvenile Idiopathic Arthritis in Pediatric Patients. | Microorganisms | 2020 |