Associated Papers
Computational modeling of human genetic variants in mice.
Dong K et al.
Biorxiv : the Preprint Server for Biology, 2025
40060429 (PubMed )
Supplement: media-1.zip › Supp_Data_9_SMARCA2_4_and_Paralogous_Library.xlsx › Sheet2_Double-hit_BE_Lib
Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort.
Di Majo BE et al.
Frontiers in Immunology, 2025
40692796 (PubMed )
Supplement: Table1.xlsx › Foglio1
Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.
Carcavilla A et al.
Journal of Clinical Medicine, 2023
37568403 (PubMed )
Supplement: jcm-12-05003-s001.zip › jcm-2490499-supplementary.pdf
Design and Testing of a Custom Melanoma Next Generation Sequencing Panel for Analysis of Circulating Tumor DNA.
Diefenbach RJ et al.
Cancers, 2020
32785074 (PubMed )
Supplement: cancers-12-02228-s001.zip › TableS5PatientMutationsIdentified.xlsx › Sheet1
Real-time Genomic Characterization of Advanced Pancreatic Cancer to Enable Precision Medicine.
Aguirre AJ et al.
Cancer Discovery, 2018
Familial cardiofaciocutaneous syndrome in a father and a son with a novel MEK2 mutation.
Karaer K et al.
American Journal of Medical Genetics. Part A, 2015
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
24803665 (PubMed )
Supplement: MSB-10-5-727-s13.xls › energies
Multiple café au lait spots in familial patients with MAP2K2 mutation.
Takenouchi T et al.
American Journal of Medical Genetics. Part A, 2014
Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.
Lepri FR et al.
Bmc Medical Genetics, 2014
Cardiofaciocutaneous syndrome in a mother and two sons with a MEK2 mutation.
Linden HC et al.
Clinical Dysmorphology, 2011
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