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American Journal of Medical Genetics. Part A|April 13, 2024
Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variantEmilia Stellacci, Jennefer N Carter, Luca Pannone, et al.Nanomaterials (Basel, Switzerland)|June 11, 2026
Developing a New Approach Methodology Framework to Assess Biological Responses to Nanoplastics: Insights from Polystyrene and Biodegradable ParticlesChiara Ritarossi, Simonetta Palleschi, Maria Condello, et al.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.American Journal of Medical Genetics. Part A|June 4, 2014
A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotypeJonathan J Edwards, Simone Martinelli, Luca Pannone, et al.Scientific Reports|August 25, 2021
C. elegans-based chemosensation strategy for the early detection of cancer metabolites in urine samplesEnrico Lanza, Martina Di Rocco, Silvia Schwartz, et al.Clinical Genetics|December 23, 2020
Compound heterozygosity for PTPN11 variants in a subject with Noonan syndrome provides insights into the mechanism of SHP2-related disordersRebeca Lorca, Luca Pannone, Elías Cuesta-Llavona, et al.Journal of Medical Genetics|August 5, 2020
Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathyValeria Morbidoni, Emanuele Agolini, Kevin C Slep, et al.The Journal of Allergy and Clinical Immunology|February 14, 2022
Mutations at the C-terminus of CDC42 cause distinct hematopoietic and autoinflammatory disordersSimona Coppola, Antonella Insalaco, Erika Zara, et al.The Journal of Physical Chemistry Letters|October 3, 2024
Fluorescent Labeling Can Significantly Perturb Measured Binding Affinity and Selectivity of Peptide-Protein InteractionsSara Bobone, Claudia Storti, Chiara Fulci, et al.Biomedicines|May 27, 2026
Dissecting GPCR Contributions to Gαo-Dependent Motor Dysfunction in GNAO1-Related Disorders Using Caenorhabditis elegansMartina Di Rocco, Lorenzo Di Rienzo, Francesca Carmen Follo, et al.Pageof 3