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Annals of Human Genetics|October 11, 2018
Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange-like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndromeViola Alesi, Maria Lisa Dentici, Sara Loddo, et al.
Frontiers in Genetics|February 21, 2024
Case report: A new <i>de novo</i> 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature reviewChiara Minotti, Ludovico Graziani, Ester Sallicandro, et al.
Genes|January 23, 2024
Non-Invasive Prenatal Test Analysis Opens a Pandora's Box: Identification of Very Rare Cases of SRY-Positive Healthy Females, Segregating for Three Generations Thanks to Preferential Inactivation of the XqYp Translocated ChromosomeCristina Politi, Katia Grillone, Donatella Nocera, et al.
Psychiatric Genetics|August 19, 2021
Rare copy number variants in ASTN2 gene in patients with neurodevelopmental disordersAlessia Bauleo, Alberto Montesanto, Vincenza Pace, et al.
Molecular Genetics & Genomic Medicine|August 8, 2019
Clinical delineation of 18q11-q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defectsKitiwan Rojnueangnit, Chariyawan Charalsawadi, Weerin Thammachote, et al.
American Journal of Medical Genetics. Part A|September 28, 2020
PPP1R21-related syndromic intellectual disability: Report of an adult patient and reviewSara Loddo, Viola Alesi, Francesca Clementina Radio, et al.
European Journal of Human Genetics : EJHG|October 8, 2009
High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?Laura Bernardini, Viola Alesi, Sara Loddo, et al.
American Journal of Medical Genetics. Part A|March 5, 2015
A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrumValentina Guida, Lorenzo Sinibaldi, Mario Pagnoni, et al.
The Canadian Journal of Cardiology|December 6, 2014
A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophySali M K Farhan, John F Robinson, Adam D McIntyre, et al.
Clinical Case Reports|January 28, 2021
Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature reviewAurora Arghir, Sorina Mihaela Papuc, Andreea-Cristina Tutulan-Cunita, et al.
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