A Case of Prenatal Neurocytoma Associated With ATR-16 Syndrome. J Ultrasound Med 2016;35(6):1359-61..
Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12. Gene 2012;492(1):315-8..
De novo 6.9 Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features. Am J Med Genet A 2012;158A(4):882-7..
De novo unbalanced translocations have a complex history/aetiology. Hum Genet 2018;137(10):817-829..
Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature. Am J Med Genet A 2012;158A(2):461-4..
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes. Clin Epigenetics 2016;8:23..
A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature. J Appl Genet 2011;52(1):77-80..
Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection. Am J Med Genet A 2014;164A(1):170-6..
A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta. Gene 2014;545(2):290-2..
Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature. Am J Med Genet A 2017;.
Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome. Int J Mol Sci 2018;19(4).
When Feeding Difficulties Are due to Genetics: The Case of Familial Partial 9q Duplication. J Investig Med High Impact Case Rep 2015;3(1):2324709615574949..