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
Base editing screens define the genetic landscape of cancer drug resistance mechanisms.
Coelho MA et al.
Nature Genetics, 2024
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › MAP2K2
Mixed histiocytic neoplasms: A multicentre series revealing diverse somatic mutations and responses to targeted therapy.
Friedman JS et al.
British Journal of Haematology, 2024
MAP-Kinase-Driven Hematopoietic Neoplasms: A Decade of Progress in the Molecular Age.
Chakraborty R et al.
Cold Spring Harbor Perspectives in Medicine, 2021
Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms.
Durham BH et al.
Nature Medicine, 2019
Molecular Profiling of Tumor Tissue and Plasma Cell-Free DNA from Patients with Non-Langerhans Cell Histiocytosis.
Janku F et al.
Molecular Cancer Therapeutics, 2019
Efficacy of MEK inhibition in patients with histiocytic neoplasms.
Diamond EL et al.
Nature, 2019
The histopathology of Erdheim-Chester disease: a comprehensive review of a molecularly characterized cohort.
Ozkaya N et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2018
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
Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations.
Dentici ML et al.
European Journal of Human Genetics : Ejhg, 2009
Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders.
Nyström AM et al.
Journal of Medical Genetics, 2008
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
Schulz AL et al.
Clinical Genetics, 2008
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