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| 36980822 | Prenatal Clinical Findings in <i>RASA1</i>-Related Capillary Malformation-Arteriovenous Malformation Syndrome. | Genes (Basel) | 2023 |
| 37586838 | Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature. | J Med Genet | 2023 |
| 38075699 | Case report: Neonatal-onset inflammatory bowel disease due to novel compound heterozygous mutations in . | | 2023 |
| 37201580 | Fetal First-trimester Cystic Hygroma as the Prenatal Presenting Feature of ASCC1-Related Spinal Muscular Atrophy with Bone Fractures 2. | | 2023 |
| 37238595 | Deep Intronic LINE-1 Insertions in : Expanding the Spectrum of Neurofibromatosis Type 1-Associated Rearrangements. | | 2023 |
| 36981010 | The Expanding Phenotype of ZTTK Syndrome Due to the Heterozygous Variant of Gene Focusing on Liver Involvement: Patient Report and Literature Review. | | 2023 |
| 34971082 | Congenital heart defects in molecularly confirmed KBG syndrome patients. | American Journal of Medical Genetics, Part A | 2022 |
| 35822092 | Combined isobutyryl-CoA and multiple acyl-CoA dehydrogenase deficiency in a boy with altered riboflavin homeostasis. | JIMD Reports | 2022 |
| 35879407 | Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1. | European Journal of Human Genetics | 2022 |
| 35999193 | Successful treatment with MEK-inhibitor in a patient with NRAS-related cutaneous skeletal hypophosphatemia syndrome. | Genes Chromosomes Cancer | 2022 |
| 35805799 | High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in Italy. | International Journal of Environmental Research and Public Health | 2022 |
| 35422763 | Hypoglycaemia Metabolic Gene Panel Testing. | Frontiers in Endocrinology | 2022 |
| 35279366 | The diagnostic challenge of mild citrulline elevation at newborn screening. | Molecular Genetics and Metabolism | 2022 |
| 34396649 | AIRE mutation triggering acute liver failure: between genetic testing and treatment options. | Pediatric Transplantation | 2021 |
| 33750022 | First prenatal case of Noonan syndrome with SOS2 mutation: Implications of early diagnosis for genetic counseling. | American Journal of Medical Genetics, Part A | 2021 |
| 33472350 | Monitoring motor traits of young athletes in Tuscany: a perspective from the first phase of the project "I ragazzi della Toscana 30 anni dopo". | Journal of Sports Medicine and Physical Fitness | 2021 |
| 33674768 | Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2. | Genet Med | 2021 |
| 34208656 | The Role of KRAS Mutations in Cortical Malformation and Epilepsy Surgery: A Novel Report of Nevus Sebaceous Syndrome and Review of the Literature. | Brain Sciences | 2021 |
| 33876391 | Hypoglycemia due to PI3K/AKT/mTOR signaling pathway defects: two novel cases and review of the literature. | Hormones | 2021 |
| 33082526 | The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered. | European Journal of Human Genetics | 2021 |
| 33227434 | Recurrent prenatal PIEZO1-related lymphatic dysplasia: Expanding molecular and ultrasound findings. | European Journal of Medical Genetics | 2021 |
| 32788663 | Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications. | Eur J Hum Genet | 2021 |
| 32806529 | Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the Literature. | Diagnostics | 2020 |
| 32124548 | KBG syndrome: Common and uncommon clinical features based on 31 new patients. | American Journal of Medical Genetics, Part A | 2020 |
| 32293671 | Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function. | Brain | 2020 |
| 31825158 | Providing more evidence on LZTR1 variants in Noonan syndrome patients. | 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 |
| 30988269 | Identification of a Novel PROP1 Mutation in a Patient with Combined Pituitary Hormone Deficiency and Enlarged Pituitary. | International Journal of Molecular Sciences | 2019 |
| 30565850 | LTBP2-related "Marfan-like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant. | American Journal of Medical Genetics, Part A | 2019 |
| 31130282 | Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome. | American Journal of Human Genetics | 2019 |
| 30916492 | Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation. | Molecular genetics & genomic medicine | 2019 |
| 31487937 | Prevalence, Type, and Molecular Spectrum of Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease. | Genes | 2019 |
| 31368652 | SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review. | American Journal of Medical Genetics, Part A | 2019 |
| 31191201 | Novel Mutations and Unreported Clinical Features in KBG Syndrome. | Molecular Syndromology | 2019 |
| 29394990 | Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes. | Am J Hum Genet | 2018 |
| 30007050 | Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect. | Hum Mutat | 2018 |
| 30193751 | Persistent Hypoglycemia in Children: Targeted Gene Panel Improves the Diagnosis of Hypoglycemia Due to Inborn Errors of Metabolism. | Journal of Pediatrics | 2018 |
| 30088855 | Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11. | American Journal of Medical Genetics, Part A | 2018 |
| 29536651 | Neurobehavioral features in individuals with Kabuki syndrome. | Molecular genetics & genomic medicine | 2018 |
| 28074573 | Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome. | Hum Mutat | 2017 |
| 28390077 | Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum. | Human Mutation | 2017 |
| 28884922 | Congenital heart defects in molecularly proven Kabuki syndrome patients. | American Journal of Medical Genetics, Part A | 2017 |
| 29283410 | Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature. | International Journal of Molecular Sciences | 2017 |
| 27684039 | Congenital heart defects in Noonan syndrome and RIT1 mutation. | Genetics in Medicine | 2016 |
| 26626406 | Metastatic Group 3 Medulloblastoma in a Patient With Tuberous Sclerosis Complex: Case Description and Molecular Characterization of the Tumor. | Pediatric Blood and Cancer | 2016 |
| 26530098 | Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma. | BMC Cancer | 2015 |
| 25281733 | Kabuki syndrome: clinical and molecular diagnosis in the first year of life. | Archives of Disease in Childhood | 2015 |
| 25834187 | BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies. | Genome Res | 2015 |
| 25820919 | Borderline cognitive level in a family with Bazex-Dupré-Christol syndrome. | American Journal of Medical Genetics, Part A | 2015 |
| 25561519 | BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies. | Genome Res | 2015 |