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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 |
| 36322151 | Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature. | Genet Med | 2023 |
| 34653680 | ELP2 compound heterozygous variants associated with cortico-cerebellar atrophy, nodular heterotopia and epilepsy: Phenotype expansion and review of the literature. | European Journal of Medical Genetics | 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 |
| 34113008 | Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity. | Genet Med | 2021 |
| 33923683 | Mosaic Segmental and Whole-Chromosome Upd(11)mat in Silver-Russell Syndrome. | Genes | 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 |
| 33058492 | Epilepsy and movement disorders in CDG: Report on the oldest-known MOGS-CDG patient. | American Journal of Medical Genetics, Part A | 2021 |
| 34829952 | Tryptophan Metabolites, Cytokines, and Fatty Acid Binding Protein 2 in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome. | Biomedicines | 2021 |
| 32928291 | Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance. | Clinical Epigenetics | 2020 |
| 31612321 | ATP8A2-related disorders as recessive cerebellar ataxia. | Journal of Neurology | 2020 |
| 27236536 | Moyamoya syndrome and 6p chromosome rearrangements: Expanding evidences of a new association. | European Journal of Paediatric Neurology | 2016 |
| 26754451 | Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation. | Brain Dev | 2016 |
| 25915946 | Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors. | PLoS ONE | 2015 |
| 23551878 | Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome. | BMC Medical Genetics | 2013 |
| 23532946 | Fraser syndrome: epidemiological study in a European population. | American Journal of Medical Genetics, Part A | 2013 |
| 22213154 | Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. | Hum Mutat | 2012 |
| 22353942 | Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients. | European Journal of Human Genetics | 2012 |
| 22791401 | The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals. | Am J Med Genet C Semin Med Genet | 2012 |
| 22678594 | Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome. | American Journal of Medical Genetics, Part A | 2012 |
| 21438134 | Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C. | Am J Med Genet A | 2011 |
| 20186785 | Is a proper name the proper name? A survey on attitude of clinical geneticists towards eponyms in Italy. | American Journal of Medical Genetics, Part A | 2010 |
| 20823032 | Dandy-Walker malformation masking the molar tooth sign: an illustrative case with magnetic resonance imaging follow-up. | Journal of Child Neurology | 2010 |
| 20531206 | A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents. | Genet Med | 2010 |
| 20594150 | A case of femur-fibular-ulna complex with peculiar metaphyseal changes. | Fetal and Pediatric Pathology | 2010 |
| 20589916 | International trends of Down syndrome 1993-2004: Births in relation to maternal age and terminations of pregnancies. | Birth Defects Research Part A - Clinical and Molecular Teratology | 2010 |
| 18802710 | Neurofibromatosis type 1 and infantile spasms. | Child's Nervous System | 2009 |
| 19684605 | Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. | Nat Genet | 2009 |
| 19625954 | A case of diploid/triploid mosaicism with dental Blaschko lines. | Clinical Dysmorphology | 2009 |
| 19839041 | X-linked brachytelephalangic chondrodysplasia punctata: a simple trait that is not so simple. | American Journal of Medical Genetics, Part A | 2009 |
| 18599266 | Pesticides and fertility: an epidemiological study in Northeast Italy and review of the literature. | Reproductive Toxicology | 2008 |
| 32041378 | Erratum to: Clinical and molecular characterization of Italian patients affected by Cohen syndrome. | J Hum Genet | 2008 |
| 18566978 | Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: searching for population variations. | Birth Defects Res A Clin Mol Teratol | 2008 |
| 17031678 | A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease. | Neurogenetics | 2007 |
| 17855048 | High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints. | Genomics | 2007 |
| 17911656 | Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome. | Journal of Medical Genetics | 2007 |
| 17223314 | The +61 A-G polymorphism of the epidermal growth factor gene is not associated with occurrence of non-melanocytic skin tumors in transplant recipients. | Journal of Dermatological Science | 2007 |
| 17603483 | Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. | Nat Genet | 2007 |
| 17990063 | Clinical and molecular characterization of Italian patients affected by Cohen syndrome. | J Hum Genet | 2007 |
| 17561371 | A study of the impact of agricultural pesticide use on the prevalence of birth defects in northeast Italy. | Reproductive Toxicology | 2007 |
| 17347060 | Inheritance of hyperbilirubinemia: evidence for a major autosomal recessive gene. | Digestive and Liver Disease | 2007 |
| 17676343 | Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16. | Human Genetics | 2007 |
| 16527387 | Pregnancy outcome after genetic counselling for prenatal diagnosis of unexpected chromosomal anomaly. | European Journal of Obstetrics, Gynecology and Reproductive Biology | 2006 |
| 16909400 | Deletion of PTEN and BMPR1A on chromosome 10q23 is not always associated with juvenile polyposis of infancy. | American Journal of Human Genetics | 2006 |
| 16212937 | hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase assembly. | Biochemical and Biophysical Research Communications | 2005 |
| 16041583 | Reciprocal translocations: a trap for cytogenetists? | Human Genetics | 2005 |
| 15657611 | A 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotype. | Eur J Hum Genet | 2005 |
| 15957159 | Three cases with de novo 6q imbalance and variable prenatal phenotype. | American Journal of Medical Genetics, Part A | 2005 |
| 15676286 | Uncommon Alu-mediated NF1 microdeletion with a breakpoint inside the NF1 gene. | Genomics | 2005 |