Associated Papers
Clonal architecture of FLT3-ITD and acquired 13q uniparental disomy define prognostic heterogeneity and therapeutic vulnerabilities in acute myeloid leukemia.
Lai A et al.
Neoplasia (new York, N.y.), 2025
Proteomic subtypes enrich current acute myeloid leukemia nomenclature and reflect intrinsic pathogenesis alongside aging.
Cheng WY et al.
Blood, 2025
Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.
Gagoski D et al.
Protein Science : a Publication of the Protein Society, 2025
Deep mutational scanning of the multi-domain phosphatase SHP2 reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Nature Communications, 2025
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Jurgens JA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.
Gagoski D et al.
Biorxiv : the Preprint Server for Biology, 2025
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
Germline activating sequence variations in RASopathy spectrum genes: genotype-phenotype correlation in a North Indian cohort.
Gupta S et al.
Frontiers in Genetics, 2025
Deep mutational scanning of a multi-domain signaling protein reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Biorxiv : the Preprint Server for Biology, 2024
Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes.
Kim J et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Dynamics of clonal hematopoiesis under DNA-damaging treatment in patients with ovarian cancer.
Arends CM et al.
Leukemia, 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Jurgens JA et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
SHP2 clinical phenotype, cancer, or RASopathies, can be predicted by mutant conformational propensities.
Liu Y et al.
Cellular and Molecular Life Sciences : Cmls, 2023
Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.
Carcavilla A et al.
Journal of Clinical Medicine, 2023
Transdifferentiation of mantle cell lymphoma into sarcoma with limited neuromuscular differentiation after conventional chemotherapy.
Kawashima I et al.
Virchows Archiv : an International Journal of Pathology, 2022
Cell cycle defects underlie childhood-onset cardiomyopathy associated with Noonan syndrome.
Meier AB et al.
Iscience, 2022
Compound heterozygosity for PTPN11 variants in a subject with Noonan syndrome provides insights into the mechanism of SHP2-related disorders.
Lorca R et al.
Clinical Genetics, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Pathogenic PTPN11 variants involving the poly-glutamine Gln255 -Gln256 -Gln257 stretch highlight the relevance of helix B in SHP2's functional regulation.
Martinelli S et al.
Human Mutation, 2020
A PTPN11 mutation in a woman with Noonan syndrome and protein-losing enteropathy.
Wang N et al.
Bmc Gastroenterology, 2020
Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong.
Yu KPT et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019
Decoding disease-causing mechanisms of missense mutations from supramolecular structures.
Hijikata A et al.
Scientific Reports, 2017
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.
Pannone L et al.
Human Mutation, 2017
Health and quality of life in adults with Noonan syndrome.
Binder G et al.
The Journal of Pediatrics, 2012
Influence of interleukin polymorphisms on development of gastric cancer and peptic ulcer.
Sugimoto M et al.
World Journal of Gastroenterology, 2010
Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome.
Pierpont EI et al.
American Journal of Medical Genetics. Part A, 2010