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European Journal of Medical Genetics|February 28, 2012
790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidismElga Fabia Belligni, Eleonora Di Gregorio, Elisa Biamino, et al.
Molecular Genetics and Metabolism|July 31, 2012
Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndromeManuela Priolo, Lucia Micale, Bartolomeo Augello, et al.
Molecular Genetics and Metabolism|June 14, 2018
Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stabilityGiovanna Menduti, Elisa Biamino, Roberta Vittorini, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 19, 2014
Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disabilityIlaria Gandin, Flavio Faletra, Francesca Faletra, et al.
Genes|October 29, 2025
Expanding Clinical and Genetic Landscape of SATB2-Associated SyndromeVerdiana Pullano, Federico Rondot, Ilaria Carelli, et al.
Mutation Research|September 29, 2015
Target sequencing approach intended to discover new mutations in non-syndromic intellectual disabilityAnna Morgan, Ilaria Gandin, Chiara Belcaro, et al.
JAMA Network Open|October 17, 2025
A Genomic Sequencing Approach to Newborn Mass Screening and Its OpportunitiesDiana Carli, Paola Quarello, Francesco Porta, et al.
American Journal of Medical Genetics. Part A|April 26, 2016
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examplesElisa Giorgio, Andrea Ciolfi, Elisa Biamino, et al.
American Journal of Human Genetics|January 17, 2012
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndromeViviana Caputo, Luciano Cianetti, Marcello Niceta, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|December 2, 2015
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesityElisa Biamino, Eleonora Di Gregorio, Elga Fabia Belligni, et al.
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