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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|December 30, 2025
Common Ancestry from Southern Italy: Two Families with Dilated Cardiomyopathy Share the Same Homozygous Loss-of-Function Variant in NRAPMaria Elena Onore, Martina Caiazza, Catia Mio, et al.
Molecular Genetics & Genomic Medicine|March 29, 2022
Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosisIlaria Persico, Agnese Feresin, Michela Faleschini, et al.
Hellenic Journal of Cardiology : HJC = Hellenike Kardiologike Epitheorese|April 29, 2026
Efficacy of anakinra in genetically associated recurrent pericarditisValentino Collini, Francesco Venturelli, Davide Stolfo, et al.
Clinical Endocrinology|January 4, 2014
Focal congenital hyperinsulinism managed by medical treatment: a diagnostic algorithm based on molecular genetic screeningArianna Maiorana, Fabrizio Barbetti, Arianna Boiani, et al.
Genes|November 11, 2022
What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian StudyAnna Monica Bianco, Giulia Ragusa, Valentina Di Carlo, 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.
Calcified Tissue International|May 27, 2019
Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case SeriesMaria Gnoli, Eric Lodewijk Staals, Laura Campanacci, et al.
Human Mutation|August 10, 2019
Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing lossAnna Morgan, Daniel C Koboldt, Elizabeth S Barrie, et al.
Frontiers in Genetics|January 10, 2019
Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number VariationsAnna Morgan, Stefania Lenarduzzi, Stefania Cappellani, et al.
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