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Molecular Autism|October 11, 2025
Genotype-phenotype correlations with autism spectrum disorder-related traits in noonan syndrome and noonan syndrome with multiple lentigines: a cross-sectional studyChloe Alexa McGhee, Julia R Plank, Luca Pannone, et al.
Frontiers in Neurology|February 24, 2023
Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephalyEmanuela Salzano, Marcello Niceta, Simone Pizzi, et al.
Molecular Genetics & Genomic Medicine|March 4, 2018
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanismFrancesca Clementina Radio, Lavinia Di Meglio, Emanuele Agolini, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|February 3, 2023
Natural history of MRAS-related Noonan syndrome: Evidence of mild adult-onset left ventricular hypertrophy and neuropsychiatric featuresManuela Priolo, Cecilia Mancini, Francesca Clementina Radio, et al.
Blood Cells, Molecules & Diseases|May 16, 2015
Hereditary hemochromatosis type 1 phenotype modifiers in Italian patients. The controversial role of variants in HAMP, BMP2, FTL and SLC40A1 genesFrancesca Clementina Radio, Silvia Majore, Caterina Aurizi, et al.
Archives of Public Health = Archives Belges De Sante Publique|May 25, 2023
Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessmentMario Cesare Nurchis, Gerardo Altamura, Maria Teresa Riccardi, 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.
JAMA Network Open|January 26, 2024
Cost-Effectiveness of Whole-Genome vs Whole-Exome Sequencing Among Children With Suspected Genetic DisordersMario Cesare Nurchis, Francesca Clementina Radio, Luca Salmasi, et al.
American Journal of Medical Genetics. Part A|June 23, 2021
Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypesChiara Leoni, Marta Tedesco, Francesca Clementina Radio, et al.
The Journal of Clinical Investigation|May 6, 2020
Deficiency of MFSD7c results in microcephaly-associated vasculopathy in Fowler syndromePazhanichamy Kalailingam, Kai Qi Wang, Xiu Ru Toh, et al.
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