Associated Papers
Noonan Syndrome, Cancer Risk, and Growth Hormone Treatment
Demir K et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
Expanded noninvasive prenatal screening for dominant single-gene disorders: proof-of-concept, performance, and challenges.
Chen S et al.
American Journal of Obstetrics and Gynecology, 2025
Unveiling splicing disruptions due to common somatic variants in acute myeloid leukemia.
Morote-Faubel M et al.
Human Genomics, 2025
Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.
Newman H et al.
Hemasphere, 2025
Deep mutational scanning of the multi-domain phosphatase SHP2 reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Nature Communications, 2025
Co-Occurrence of Dysembryoplastic Neuroepithelial Tumor and Hodgkin Lymphoma in a Patient with Noonan Syndrome and Mutation in the PTPN11 Gene.
Pellicciari CR et al.
Hormone Research in Paediatrics, 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
Unidirectional association of clonal hematopoiesis with atherosclerosis development.
Díez-Díez M et al.
Nature Medicine, 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
Molecular and clinical analyses of PHF6 mutant myeloid neoplasia provide their pathogenesis and therapeutic targeting.
Kubota Y et al.
Nature Communications, 2024
PTPN11 variant may be a prognostic indicator of IDH-wildtype glioblastoma in a comprehensive genomic profiling cohort.
Otani R et al.
Journal of Neuro-oncology, 2023
Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms.
Nannya Y et al.
Blood Advances, 2023
Impact of gene alterations on clinical outcome in young adults with myelodysplastic syndromes.
Konishi T et al.
Scientific Reports, 2023
Rapid and Automated Semiconductor-Based Next-Generation Sequencing for Simultaneous Detection of Somatic DNA and RNA Aberrations in Myeloid Neoplasms.
Sande CM et al.
The Journal of Molecular Diagnostics : Jmd, 2023
Lenalidomide promotes the development of TP53-mutated therapy-related myeloid neoplasms.
Sperling AS et al.
Blood, 2022
Genomic landscape of patients with FLT3-mutated acute myeloid leukemia (AML) treated within the CALGB 10603/RATIFY trial.
Jahn N et al.
Leukemia, 2022
PTPN11 mutations in adult acute myeloid leukaemia: Prevalence and clinical implications in the context of NPM1 mutation.
Liu J et al.
Leukemia Research, 2022
The longitudinal dynamics and natural history of clonal haematopoiesis.
Fabre MA et al.
Nature, 2022
RASopathy Cohort of Patients Enrolled in a Brazilian Reference Center for Rare Diseases: A Novel Familial LZTR1 Variant and Recurrent Mutations.
Chaves Rabelo N et al.
The Application of Clinical Genetics, 2022
Congenital sensorineural hearing loss as the initial presentation of PTPN11-associated Noonan syndrome with multiple lentigines or Noonan syndrome: clinical features and underlying mechanisms.
Gao X et al.
Journal of Medical Genetics, 2021
Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome.
Kennedy AL et al.
Nature Communications, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia.
Kim B et al.
Scientific Reports, 2020
Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the Literature.
Lodi M et al.
Diagnostics (basel, Switzerland), 2020
Defining language disorders in children and adolescents with Noonan Syndrome.
Lazzaro G et al.
Molecular Genetics & Genomic Medicine, 2020
Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.
Winter H et al.
Cancers, 2019
Development and validation of a targeted gene sequencing panel for application to disparate cancers.
McCabe MJ et al.
Scientific Reports, 2019
Clinical and molecular characterization of children with Noonan syndrome and other RASopathies in Argentina.
Chinton J et al.
Archivos Argentinos De Pediatria, 2019
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
PTPN11 Plays Oncogenic Roles and Is a Therapeutic Target for BRAF Wild-Type Melanomas.
Hill KS et al.
Molecular Cancer Research : Mcr, 2019
Evolutionarily Conserved Allosteric Communication in Protein Tyrosine Phosphatases.
Hjortness MK et al.
Biochemistry, 2018
Noonan Syndrome: An Underestimated Cause of Severe to Profound Sensorineural Hearing Impairment. Which Clues to Suspect the Diagnosis?
Ziegler A et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2017
Ciliated muconodular papillary tumors of the lung with KRAS/BRAF/AKT1 mutation.
Udo E et al.
Diagnostic Pathology, 2017
Occurrence of Cranial Neoplasms in Pediatric Patients with Noonan Syndrome Receiving Growth Hormone: Is Screening with Brain MRI prior to Initiation of Growth Hormone Indicated?
Bangalore Krishna K et al.
Hormone Research in Paediatrics, 2017
Clonal and microclonal mutational heterogeneity in high hyperdiploid acute lymphoblastic leukemia.
de Smith AJ et al.
Oncotarget, 2016
RASopathy Gene Mutations in Melanoma.
Halaban R et al.
The Journal of Investigative Dermatology, 2016
Frequent BRAF or EGFR Mutations in Ciliated Muconodular Papillary Tumors of the Lung.
Kamata T et al.
Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2016
Occurrence of DNET and other brain tumors in Noonan syndrome warrants caution with growth hormone therapy.
McWilliams GD et al.
American Journal of Medical Genetics. Part A, 2016
Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas.
Krauthammer M et al.
Nature Genetics, 2015
Mutational dichotomy in desmoplastic malignant melanoma corroborated by multigene panel analysis.
Jahn SW et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2015
External ear anomalies and hearing impairment in Noonan Syndrome.
van Trier DC et al.
International Journal of Pediatric Otorhinolaryngology, 2015
Use of clinical next-generation sequencing to identify melanomas harboring SMARCB1 mutations.
Stockman DL et al.
Journal of Cutaneous Pathology, 2015
Development and validation of a scalable next-generation sequencing system for assessing relevant somatic variants in solid tumors.
Hovelson DH et al.
Neoplasia (new York, N.y.), 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