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European Journal of Human Genetics : EJHG|March 17, 2021
Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolatesBeatrice Spedicati, Massimiliano Cocca, Roberto Palmisano, et al.
Prenatal Diagnosis|August 18, 2020
First-trimester absent nasal bone: is it a predictive factor for pathogenic CNVs in the low-risk population?Ilaria Fantasia, Tamara Stampalija, Fabio Sirchia, et al.
Ophthalmic Genetics|April 23, 2011
Horizontal gaze palsy and progressive scoliosis without ROBO3 mutationsKhaled K Abu-Amero, Flavio Faletra, Paolo Gasparini, et al.
Clinical Genetics|June 5, 2024
The impact of the European Society of Cardiology guidelines and whole exome sequencing on genetic testing in hereditary cardiac diseasesCatia Mio, Jessica Zucco, Dora Fabbro, et al.
American Journal of Medical Genetics. Part A|December 6, 2013
Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detectionEmmanouil Athanasakis, Danilo Licastro, Flavio Faletra, et al.
Diagnostics (Basel, Switzerland)|April 3, 2021
Immunity and Genetics at the Revolving Doors of Diagnostics in Primary ImmunodeficienciesFrancesco Rispoli, Erica Valencic, Martina Girardelli, et al.
Molecular Genetics & Genomic Medicine|January 11, 2019
Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism-array analysisRoberta Bottega, Stefania Cappellani, Antonella Fabretto, et al.
Human Genetics|April 10, 2025
The molecular landscape of hereditary ataxia: a single-center studyElisa Bregant, Elena Betto, Chiara Dal Secco, et al.
Genes|February 25, 2023
Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated DisordersMariateresa Di Stazio, Caterina Zanus, Flavio Faletra, et al.
The Journal of Investigative Dermatology|May 25, 2012
TGM5 mutations impact epidermal differentiation in acral peeling skin syndromeManuela Pigors, Dimitra Kiritsi, Cristina Cobzaru, et al.
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