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Gene|December 25, 2012
Multiorgan autoimmunity in a Turner syndrome patient with partial monosomy 2q and trisomy 10pArmando Grossi, Alessia Palma, Ginevra Zanni, et al.
American Journal of Medical Genetics. Part A|July 17, 2010
TBX2 gene duplication associated with complex heart defect and skeletal malformationsFrancesca Clementina Radio, Laura Bernardini, Sara Loddo, et al.
Genes|May 14, 2020
7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual DisabilityFrancesco Paduano, Emma Colao, Sara Loddo, et al.
Progress in Neuro-Psychopharmacology & Biological Psychiatry|February 24, 2019
Copy number variants in autism spectrum disordersStefano Vicari, Eleonora Napoli, Viviana Cordeddu, et al.
European Journal of Medical Genetics|February 5, 2017
Reassessment of the 12q15 deletion syndrome critical regionViola Alesi, Sara Loddo, Marta Grispo, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|May 29, 2013
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic featuresAgatino Battaglia, Viola Doccini, Laura Bernardini, et al.
American Journal of Medical Genetics. Part A|July 5, 2013
Homozygous deletion in TUSC3 causing syndromic intellectual disability: a new patientSara Loddo, Valentina Parisi, Viola Doccini, et al.
International Journal of Molecular Sciences|March 27, 2019
Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) SyndromeKyle W Davis, Moises Serrano, Sara Loddo, et al.
Molecular Genetics & Genomic Medicine|March 28, 2019
Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardationEmanuela Ponzi, Viola Alesi, Francesca R Lepri, et al.
American Journal of Medical Genetics. Part A|October 6, 2018
An additional patient with a homozygous mutation in DCPS contributes to the delination of Al-Raqad syndromeViola Alesi, Rossella Capolino, Silvia Genovesea, et al.
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