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Human Mutation|January 12, 2017
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan SyndromeLuca Pannone, Gianfranco Bocchinfuso, Elisabetta Flex, 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.American Journal of Human Genetics|July 13, 2010
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotypeSimone Martinelli, Alessandro De Luca, Emilia Stellacci, 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.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.Birth Defects Research|June 20, 2020
Atypical cardiac defects in patients with RASopathies: Updated data on CARNET studyGiulio Calcagni, Giulia Gagliostro, Giuseppe Limongelli, et al.Human Mutation|March 10, 2011
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlationsFrancesca Lepri, Alessandro De Luca, Lorenzo Stella, et al.Human Mutation|July 29, 2011
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patientsTingwei Guo, Donna McDonald-McGinn, Anna Blonska, et al.American Journal of Medical Genetics. Part A|October 1, 2015
Recurrent duplications of 17q12 associated with variable phenotypesElyse Mitchell, Andrew Douglas, Susanne Kjaegaard, et al.Orphanet Journal of Rare Diseases|June 11, 2011
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patientsLucia Micale, Bartolomeo Augello, Carmela Fusco, et al.Pageof 4