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Orphanet Journal of Rare Diseases|April 13, 2017
Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task forceBerardo Rinaldi, Alessandro Vaisfeld, Sergio Amarri, et al.
Molecular Genetics & Genomic Medicine|June 26, 2019
Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21Maria Chiara Pelleri, Elena Cicchini, Michael B Petersen, et al.
American Journal of Medical Genetics. Part A|September 4, 2015
New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancerGiulia Severi, Laura Bernardini, Silvana Briuglia, et al.
BMC Medical Genomics|December 21, 2022
Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype-phenotype associationMaria Chiara Pelleri, Chiara Locatelli, Teresa Mattina, et al.
Gene|December 3, 2013
Array CGH analysis of a cohort of Russian patients with intellectual disabilityAnna A Kashevarova, Lyudmila P Nazarenko, Nikolay A Skryabin, et al.
Molecular Diagnosis & Therapy|August 11, 2020
Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion ProbesPaola Dimartino, Valeria Mariani, Caterina Marconi, et al.
Human Mutation|October 22, 2015
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical HallmarksGloria Negri, Pamela Magini, Donatella Milani, et al.
Haematologica|December 15, 2022
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workupCaterina Marconi, Alessandro Pecci, Flavia Palombo, et al.
International Journal of Molecular Sciences|November 18, 2020
Expanding Phenotype of Schimke Immuno-Osseous Dysplasia: Congenital Anomalies of the Kidneys and of the Urinary Tract and Alteration of NK CellsCristina Bertulli, Antonio Marzollo, Margherita Doria, et al.
Genome Biology|November 1, 2013
EXCAVATOR: detecting copy number variants from whole-exome sequencing dataAlberto Magi, Lorenzo Tattini, Ingrid Cifola, et al.
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