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American Journal of Medical Genetics. Part A|May 5, 2021
Genotype-phenotype correlation in Phelan-McDermid syndrome: A comprehensive review of chromosome 22q13 deleted genesArianna Ricciardello, Pasquale Tomaiuolo, Antonio M Persico
Molecular Genetics & Genomic Medicine|June 28, 2022
Yield of array-CGH analysis in Tunisian children with autism spectrum disorderFethia Chehbani, Pasquale Tomaiuolo, Chiara Picinelli, et al.
Molecular Syndromology|February 9, 2019
An Interstitial 17q11.2 de novo Deletion Involving the CDK5R1 Gene in a High-Functioning Autistic PatientCarla Lintas, Roberto Sacco, Claudio Tabolacci, et al.
Clinical Genetics|March 16, 2019
Phenotypic spectrum of NRXN1 mono- and bi-allelic deficiency: A systematic reviewPaola Castronovo, Marco Baccarin, Arianna Ricciardello, et al.
Genes, Brain, and Behavior|March 7, 2020
Appropriateness of array-CGH in the ADHD clinics: A comparative studyMarco Baccarin, Chiara Picinelli, Pasquale Tomaiuolo, et al.
Scientific Reports|January 16, 2023
RNA sequencing of blood from sex- and age-matched discordant siblings supports immune and transcriptional dysregulation in autism spectrum disorderPasquale Tomaiuolo, Ignazio Stefano Piras, Simona Baghai Sain, et al.
Molecular Genetics & Genomic Medicine|May 15, 2023
Diagnostic yield and clinical impact of chromosomal microarray analysis in autism spectrum disorderFrancesca Cucinotta, Carla Lintas, Pasquale Tomaiuolo, et al.
European Journal of Cancer (Oxford, England : 1990)|May 7, 2024
Germline NGS targeted analysis in adult patients with sporadic adrenocortical carcinomaMaria Scatolini, Salvatore Grisanti, Pasquale Tomaiuolo, et al.
Frontiers in Endocrinology|October 20, 2025
Germline targeted next-generation sequencing in patients with adrenal incidentalomasErika Messina, Alessia Inglesi, Soraya Puglisi, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|July 12, 2020
Huntingtin gene CAG repeat size affects autism risk: Family-based and case-control association studyIgnazio Stefano Piras, Chiara Picinelli, Raffaele Iennaco, et al.
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