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International Journal of Molecular Sciences|June 10, 2022
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG SyndromeIlaria Bestetti, Milena Crippa, Alessandra Sironi, et al.
Brain & Development|September 25, 2014
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disabilityFrancesca Mari, Annabella Marozza, Maria Antonietta Mencarelli, et al.
Orphanet Journal of Rare Diseases|March 16, 2023
Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational studyMohamad Maghnie, Oliver Semler, Encarna Guillen-Navarro, et al.
Human Mutation|February 12, 2009
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrumAnna Sarkozy, Claudio Carta, Sonia Moretti, et al.
European Journal of Human Genetics : EJHG|May 13, 2010
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndromeVeronica Parri, Eleni Katzaki, Vera Uliana, et al.
Scientific Reports|July 30, 2021
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in bloodAna Latorre-Pellicer, Marta Gil-Salvador, Ilaria Parenti, et al.
Nature Genetics|July 3, 2007
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathyBhaswati Pandit, Anna Sarkozy, Len A Pennacchio, et al.
Genome Research|June 5, 2019
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic agingAaron R Jeffries, Reza Maroofian, Claire G Salter, et al.
Nature Genetics|August 18, 2009
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hairViviana Cordeddu, Elia Di Schiavi, Len A Pennacchio, et al.
Neurology. Genetics|October 23, 2025
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical PhenotypesPasquale Di Letto, Chiara De Leonibus, Francesca Pia Palmieri, et al.
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