Associated Papers
High-Yield DNA-Based Neurofibromatosis Type 1 Diagnostics Reveal Population-Specific Mutation Landscape in 1917 Koreans.
Kim J et al.
The Journal of Molecular Diagnostics : Jmd, 2026
Preimplantation genetic testing for neurofibromatosis type 1: molecular genetic aspects and impact on reproductive counseling.
Vernimmen V et al.
Human Reproduction (oxford, England), 2026
Bilateral pheochromocytoma as a late presentation of neurofibromatosis type 1.
Urbano Ferreira H et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2026
Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants.
Pacot L et al.
Journal of Medical Genetics, 2025
Pathogenic Neurofibromatosis type 1 gene variants in tumors of non-NF1 patients and role of R1276.
Selig M et al.
Febs Open Bio, 2025
Estimated global prevalence of genetic carriers of hereditary pheochromocytoma-paraganglioma syndrome in a large multiethnic genomic database.
Charoenngam N et al.
European Journal of Endocrinology, 2025
Genetic etiology of 283 Chinese individuals with epilepsy using copy number variation sequencing and whole exome sequencing: a single-center cohort study.
Hu J et al.
Bmc Medical Genomics, 2025
Prevalence and clinical relavance of germline mutations in Chinese patients with pancreatic cancer.
Jiang Y et al.
Cell Communication and Signaling : Ccs, 2025
Engineering precision zebrafish alleles of human disease.
Thomas HR et al.
Biorxiv : the Preprint Server for Biology, 2025
Allosteric modulation of NF1 GAP: Differential distributions of catalytically competent populations in loss-of-function and gain-of-function mutants.
Xu L et al.
Protein Science : a Publication of the Protein Society, 2025
Global proteomics and affinity mass spectrometry analysis of human Schwann cells indicates that variation in and loss of neurofibromin (NF1) alters protein expression and cellular and mitochondrial metabolism.
Fay CX et al.
Scientific Reports, 2025
Insights into the genetic landscape of pheochromocytomas and paragangliomas in a Brazilian cohort.
Fagundes GFC et al.
European Journal of Endocrinology, 2025
Indeterminate DC histiocytosis is distinct from LCH and often associated with other hematopoietic neoplasms.
Ozkaya N et al.
Blood Advances, 2024
An Atypical Mechanism of SUMOylation of Neurofibromin SecPH Domain Provides New Insights into SUMOylation Site Selection.
Bergoug M et al.
Journal of Molecular Biology, 2024
Whole-Exome Sequencing Reveals Novel Candidate Driver Mutations and Potential Druggable Mutations in Patients with High-Risk Neuroblastoma.
Nokchan N et al.
Journal of Personalized Medicine, 2024
Genomic characterization of AML with aberrations of chromosome 7: a multinational cohort of 519 patients.
Halik A et al.
Journal of Hematology & Oncology, 2024
Genotype-Phenotype Correlation in Neurofibromatosis Type 1: Evidence for a Mild Phenotype Associated with Splicing Variants Leading to In-Frame Skipping of NF1 Exon 24 [19a].
Chen Y et al.
Cancers, 2024
Genetic Testing for Supravalvar Aortic Stenosis: What to Do When It Is Not Williams Syndrome.
Stephens SB et al.
Journal of the American Heart Association, 2024
Molecular and clinical analyses of PHF6 mutant myeloid neoplasia provide their pathogenesis and therapeutic targeting.
Kubota Y et al.
Nature Communications, 2024
Next-generation variant exon screening: Moving forward in routine genetic disease investigations.
Wang C et al.
Genetics in Medicine Open, 2024
Evaluation of Molecular and Clinical Findings in Children With Neurofibromatosis Type 1: Identification of 15 Novel Variants.
Bildirici Y et al.
Pediatric Neurology, 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
Mutational Profile Enables the Identification of a High-Risk Subgroup in Myelodysplastic Syndromes with Isolated Trisomy 8.
Toribio-Castelló S et al.
Cancers, 2023
Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms.
Nannya Y et al.
Blood Advances, 2023
Lack of Influence of Non-Overlapping Mutations in BRAF, NRAS, or NF1 on 12-Month Best Objective Response and Long-Term Survival after Checkpoint Inhibitor-Based Treatment for Metastatic Melanoma.
Panning A et al.
Cancers, 2023
Dynamic ctDNA Mutational Complexity in Patients with Melanoma Receiving Immunotherapy.
Fitzgerald S et al.
Molecular Diagnosis & Therapy, 2023
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213.
Ognibene M et al.
Cancers, 2023
Metastatic Colorectal Cancer Treatment Response Evaluation by Ultra-Deep Sequencing of Cell-Free DNA and Matched White Blood Cells.
van 't Erve I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
AIMedGraph: a comprehensive multi-relational knowledge graph for precision medicine.
Quan X et al.
Database : the Journal of Biological Databases and Curation, 2023
A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort.
Paterra R et al.
Cancers, 2022
Tissue and liquid biopsy profiling reveal convergent tumor evolution and therapy evasion in breast cancer.
Sivakumar S et al.
Nature Communications, 2022
Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature.
Andrade NLM et al.
Endocrine Connections, 2022
Whole-Exome Sequencing Among Chinese Patients With Hereditary Diffuse Gastric Cancer.
Liu ZX et al.
Jama Network Open, 2022
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Zhou X et al.
Nature Genetics, 2022
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
Clinical Application of Comprehensive Genomic Profiling Tests for Diffuse Gliomas.
Omura T et al.
Cancers, 2022
Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.
Sobahy TM et al.
Bmc Medical Genomics, 2022
Mutational spectrum and prognosis in Chinese patients with prefibrotic primary myelofibrosis.
Cheng CK et al.
Ejhaem, 2022
Analysis of patient-specific NF1 variants leads to functional insights for Ras signaling that can impact personalized medicine.
Long A et al.
Human Mutation, 2022
Genomic landscape of the immunogenicity regulation in skin melanomas with diverse tumor mutation burden.
Georgoulias G et al.
Frontiers in Immunology, 2022
Integrated genomic-metabolic classification of acute myeloid leukemia defines a subgroup with NPM1 and cohesin/DNA damage mutations.
Simonetti G et al.
Leukemia, 2021
Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation-dependent probe amplification and genotype-phenotype correlation in 138 Turkish patients.
Güneş N et al.
Annals of Human Genetics, 2021
Clinical Utility of Circulating Cell-Free DNA Mutations in Anaplastic Thyroid Carcinoma.
Qin Y et al.
Thyroid : Official Journal of the American Thyroid Association, 2021
Clinical Application of Targeted Deep Sequencing in Metastatic Colorectal Cancer Patients: Actionable Genomic Alteration in K-MASTER Project.
Lee Y et al.
Cancer Research and Treatment, 2021
Integrated Analysis of Genomic and Immunological Features in Lung Adenocarcinoma With Micropapillary Component.
Zhang S et al.
Frontiers in Oncology, 2021