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The Journal of Experimental Medicine|March 26, 2008
Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemiaElisabetta Flex, Valentina Petrangeli, Lorenzo Stella, et al.The Journal of Clinical Endocrinology and Metabolism|October 31, 2021
Gain of Function of Malate Dehydrogenase 2 and Familial HyperglycemiaPrapaporn Jungtrakoon Thamtarana, Antonella Marucci, Luca Pannone, et al.Journal of Medicinal Chemistry|October 29, 2021
Targeting Oncogenic Src Homology 2 Domain-Containing Phosphatase 2 (SHP2) by Inhibiting Its Protein-Protein InteractionsSara Bobone, Luca Pannone, Barbara Biondi, et al.European Journal of Human Genetics : EJHG|June 6, 2025
Biallelic SH2B3 germline variants are associated with a neonatal myeloproliferative disease and multisystemic involvementDavide Leardini, Elisabetta Flex, Elliot Stieglitz, et al.European Journal of Human Genetics : EJHG|June 9, 2017
Genotype and phenotype spectrum of NRAS germline variantsFranziska Altmüller, Christina Lissewski, Debora Bertola, 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 Communications|April 11, 2023
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformationUirá Souto Melo, Jerome Jatzlau, Cesar A Prada-Medina, et al.Cell Reports|October 13, 2015
Myeloid Dysregulation in a Human Induced Pluripotent Stem Cell Model of PTPN11-Associated Juvenile Myelomonocytic LeukemiaSonia Mulero-Navarro, Ana Sevilla, Angel C Roman, 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.American Journal of Human Genetics|November 13, 2020
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal NeurodevelopmentCatherine Rodger, Elisabetta Flex, Rachel J Allison, et al.Pageof 7