Associated Papers
Multi-omics profiling uncovers immune-molecular clusters with distinct chemo-immunotherapeutic vulnerabilities in a mouse model of triple-negative breast cancer.
Castellanet O et al.
Molecular Cancer, 2026
Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances.
Hu J et al.
Biomedicines, 2026
Solving Riddles Through Sequencing (SIRIUS): unlocking hematologic diagnoses by whole genome and transcriptome sequencing.
Truger M et al.
Leukemia, 2026
Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections.
Gulrajani NB et al.
Prenatal Diagnosis, 2025
Understanding Molecular Basis of PTPN11-Related Diseases.
Um S et al.
Arxiv, 2025
Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.
Newman H et al.
Hemasphere, 2025
An optimized tissue sampling scheme guided by MRI features reveals intratumoral heterogeneity in glioblastoma.
Wang JH et al.
Scientific Reports, 2025
Computational modeling of human genetic variants in mice.
Dong K et al.
Biorxiv : the Preprint Server for Biology, 2025
Deep mutational scanning of the multi-domain phosphatase SHP2 reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Nature Communications, 2025
Clinical Sequence Revealed the Prevalence and Biological Significance of Somatic Pathogenic Variants in Thoracic Cancer: Implications for Germline Status.
Fukushima T et al.
Clinical Lung Cancer, 2025
Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.
Pepe D et al.
American Journal of Human Genetics, 2025
Pembrolizumab Monotherapy for Early-Stage Triple-Negative Breast Cancer in a Patient With Lynch Syndrome.
Gowda S et al.
Jco Precision Oncology, 2025
Single-cell DNA and surface protein characterization of high hyperdiploid acute lymphoblastic leukemia at diagnosis and during treatment.
Aertgeerts M et al.
Hemasphere, 2025
Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.
Yu J et al.
Frontiers in Oncology, 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
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
Efficacy of immunotherapy in ARID1A-mutant solid tumors: a single-center retrospective study.
Zhou H et al.
Discover Oncology, 2024
Somatic GNA11/GNAQ variants in a cohort of Chinese children with phakomatosis pigmentovascularis.
Zhang B et al.
Pediatric Investigation, 2024
MEK Inhibition for RASopathy-Associated Hypertrophic Cardiomyopathy: Clinical Application of a Basic Concept.
Chaput D et al.
The Canadian Journal of Cardiology, 2024
Paternally Inherited Noonan Syndrome Caused by a PTPN11 Variant May Exhibit Mild Symptoms: A Case Report and Literature Review.
Han JY et al.
Genes, 2024
Melanoma and LEOPARD Syndrome: Understanding the Role of PTPN11 Mutations in Melanomagenesis.
Palacios-Diaz RD et al.
Acta Dermato-venereologica, 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
Association of deep phenotyping with diagnostic yield of prenatal exome sequencing for fetal brain abnormalities.
Drexler KA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Molecular and clonal evolution in vivo reveal a common pathway of distant relapse gliomas.
Liu G et al.
Iscience, 2023
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
Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.
Carcavilla A et al.
Journal of Clinical Medicine, 2023
PTPN11 Mosaicism Causes a Spectrum of Pigmentary and Vascular Neurocutaneous Disorders and Predisposes to Melanoma.
Polubothu S et al.
The Journal of Investigative Dermatology, 2023
LEOPARD Syndrome with a Sporadic PTPN11 Mutation in a Saudi Patient.
Alshamrani HM et al.
Case Reports in Dermatological Medicine, 2023
Circulating Tumor DNA: Less Invasive, More Representative Method to Unveil the Genomic Landscape of Newly Diagnosed Multiple Myeloma Than Bone Marrow Aspirates.
Liu Y et al.
Cancers, 2022
Phacomatosis pigmentovascularis spilorosea and mutation in the PTPN11 gene: new case with significant neurologic impairment.
Maione V et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2022
Phacomatosis pigmentovascularis spilorosea mit Mutation im PTPN11 Gen: neuer Fall mit erheblichen neurologischen Beeinträchtigungen.
Maione V et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 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
Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease.
Delea M et al.
Genes, 2022
SmMIP-tools: a computational toolset for processing and analysis of single-molecule molecular inversion probes-derived data.
Medeiros JJF et al.
Bioinformatics (oxford, England), 2022
Cochlear Implantation in Noonan Syndrome With and Without Multiple Lentigines: A Case Report and Systematic Review.
Blumenthal D et al.
Otology & Neurotology Open, 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
Immunosuppression and outcomes in adult patients with de novo acute myeloid leukemia with normal karyotypes.
Ferraro F et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
Therapy-related myeloid neoplasms in 109 patients after radiation monotherapy.
Patel AA et al.
Blood Advances, 2021
CDKN2A loss-of-function predicts immunotherapy resistance in non-small cell lung cancer.
Gutiontov SI et al.
Scientific Reports, 2021
Multiple versus solitary giant cell lesions of the jaw: Similar or distinct entities?
Schreuder WH et al.
Bone, 2021
Application of CRISPR-Cas9 gene editing for congenital heart disease.
Seok H et al.
Clinical and Experimental Pediatrics, 2021
An allosteric interaction controls the activation mechanism of SHP2 tyrosine phosphatase.
Anselmi M et al.
Scientific Reports, 2020
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020