Associated Papers
Proteomic subtypes enrich current acute myeloid leukemia nomenclature and reflect intrinsic pathogenesis alongside aging.
Cheng WY et al.
Blood, 2025
Understanding Molecular Basis of PTPN11-Related Diseases.
Um S et al.
Arxiv, 2025
Molecular targeted treatment in infants with central conducting lymphatic anomalies.
van den Brink VC et al.
European Journal of Pediatrics, 2025
Deep mutational scanning of the multi-domain phosphatase SHP2 reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Nature Communications, 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
Observation and Management of Juvenile Myelomonocytic Leukemia and Noonan Syndrome-Associated Myeloproliferative Disorder: A Real-World Experience.
Lucas BJ et al.
Cancers, 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
Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease.
Slavotinek AM et al.
Hgg Advances, 2024
Multi-target measurable residual disease assessed by error-corrected sequencing in patients with acute myeloid leukemia: An ALFA study.
Hirsch P et al.
Blood Cancer Journal, 2024
Comprehensive genomic characterization of hematologic malignancies at a pediatric tertiary care center.
Kebede AM et al.
Frontiers in Oncology, 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
Molecular-defined clonal evolution in patients with classical myeloproliferative neoplasms.
Hinze A et al.
British Journal of Haematology, 2023
Germline selection of PTPN11 (HGNC:9644) variants make a major contribution to both Noonan syndrome's high birth rate and the transmission of sporadic cancer variants resulting in fetal abnormality.
Eboreime J et al.
Human Mutation, 2022
Mosaic Variegated Aneuploidy Syndrome and Noonan Syndrome in the Same Family.
Hübner CT et al.
Molecular Syndromology, 2022
Lymphatic anomalies during lifetime in patients with Noonan syndrome: Retrospective cohort study.
Swarts JW et al.
American Journal of Medical Genetics. Part A, 2022
It Is Not Carved in Stone-The Need for a Genetic Reevaluation of Variants in Pediatric Cardiomyopathies.
Westphal DS et al.
Journal of Cardiovascular Development and Disease, 2022
Multiple versus solitary giant cell lesions of the jaw: Similar or distinct entities?
Schreuder WH et al.
Bone, 2021
A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations.
Wenger BM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Integration of intra-sample contextual error modeling for improved detection of somatic mutations from deep sequencing.
Abelson S et al.
Science Advances, 2020
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Therapeutic potential of targeting SHP2 in human developmental disorders and cancers.
Shen D et al.
European Journal of Medicinal Chemistry, 2020
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.
Athota JP et al.
Bmc Medical Genetics, 2020
A PTPN11 mutation in a woman with Noonan syndrome and protein-losing enteropathy.
Wang N et al.
Bmc Gastroenterology, 2020
Genotype-phenotype correlation analysis in Japanese patients with Noonan syndrome.
Shoji Y et al.
Endocrine Journal, 2019
Nonimmune hydrops fetalis: identifying the underlying genetic etiology.
Sparks TN et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Psychopathological features in Noonan syndrome.
Perrino F et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018
Hotspots in PTPN11 Gene Among Indian Children With Noonan Syndrome.
Narayanan DL et al.
Indian Pediatrics, 2017
SHP2 sails from physiology to pathology.
Tajan M et al.
European Journal of Medical Genetics, 2015
External ear anomalies and hearing impairment in Noonan Syndrome.
van Trier DC et al.
International Journal of Pediatric Otorhinolaryngology, 2015
Variability in pathogenicity prediction programs: impact on clinical diagnostics.
Walters-Sen LC et al.
Molecular Genetics & Genomic Medicine, 2015
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
Behavioral profile in RASopathies.
Alfieri P 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
Clinical and molecular analysis of RASopathies in a group of Turkish patients.
Şimşek-Kiper PÖ et al.
Clinical Genetics, 2013
Tegumentary manifestations of Noonan and Noonan-related syndromes.
Quaio CR et al.
Clinics (sao Paulo, Brazil), 2013
Case report: Noonan syndrome with multiple giant cell lesions and review of the literature.
Karbach J et al.
American Journal of Medical Genetics. Part A, 2012
Ocular manifestations of Noonan syndrome.
Marin Lda R et al.
Ophthalmic Genetics, 2012
Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment.
Papadopoulou A et al.
European Journal of Pediatrics, 2012