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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.
Genome Medicine|July 21, 2017
Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disabilityClaudio Reggiani, Sandra Coppens, Tayeb Sekhara, et al.
International Journal of Cardiology|August 4, 2017
Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study resultsGiulio Calcagni, Giuseppe Limongelli, Angelo D'Ambrosio, et al.
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.
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.
Journal of Medical Genetics|March 9, 2017
PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humansPauline Le Tanno, Julie Breton, Marie Bidart, et al.
Blood|December 17, 2015
Reduced-intensity transplantation for lymphomas using haploidentical related donors vs HLA-matched unrelated donorsAbraham S Kanate, Alberto Mussetti, Mohamed A Kharfan-Dabaja, 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.
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.
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