Associated Papers
Genomic Profile of Non-Small Cell Lung Cancer in a Spanish Cohort: A 2-Year Descriptive Study Using Next-Generation Sequencing.
Carnero-Gregorio M et al.
Genes, 2026
Genotype-Phenotype Analysis and New Clinical Findings in a Series of 24 Patients Presenting with Noonan Syndrome and Related Disorders.
Corso BM et al.
Molecular Syndromology, 2026
Wide Ranging Neurobehavioral Phenotype in Individuals With Costello Syndrome.
Curlee MS et al.
American Journal of Medical Genetics. Part A, 2026
Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances.
Hu J et al.
Biomedicines, 2026
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).
Rivera-Munoz EA et al.
European Journal of Human Genetics : Ejhg, 2025
Clinical and molecular analysis of seventy-one fetal cases with RASopathies.
Yu QX et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2025
Beyond the Curtains: Identification of the Genetic Cause of Foetal Developmental Abnormalities Through the Application of Molecular Autopsy.
Spedicati B et al.
Genes, 2025
Functional Analysis of Rare RAS Variants of Unknown Significance.
Park S et al.
Cancer Research Communications, 2025
A structurally informed human protein-protein interactome reveals proteome-wide perturbations caused by disease mutations.
Xiong D et al.
Nature Biotechnology, 2025
PIK3CB Inhibitor GSK2636771 in Cancers With PTEN Mutation/Deletion or Loss of PTEN Protein Expression: Results From the NCI-MATCH ECOG-ACRIN Trial (EAY131) Subprotocols N and P.
Janku F et al.
Jco Precision Oncology, 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
Prenatal Exome Sequencing for Fetal Macrocephaly: A Large Prospective Observational Cohort Study.
Zhou H et al.
Prenatal Diagnosis, 2025
HRAS Mutations in Head and Neck Carcinomas in Japanese Patients: Clinical Significance, Prognosis, and Therapeutic Potential.
Ohshima H et al.
International Journal of Molecular Sciences, 2025
Comparative analysis of RNA expression in a single institution cohort of pediatric cancer patients.
Vasquez YA et al.
Npj Precision Oncology, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 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
Hallmarks of a genomically distinct subclass of head and neck cancer.
Muijlwijk T et al.
Nature Communications, 2024
Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients.
Bessis D et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 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
KRAS Mutation Subtypes and Their Association with Other Driver Mutations in Oncogenic Pathways.
Mondal K et al.
Cells, 2024
Clinical features associated with NeoRAS wild-type metastatic colorectal cancer A SCRUM-Japan GOZILA substudy.
Osumi H et al.
Nature Communications, 2024
Adult syndromology: challenges, opportunities and perspectives: Illustrated by the description of four adults with Costello syndrome.
Schmetz A et al.
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.v, 2024
Concurrent inhibition of oncogenic and wild-type RAS-GTP for cancer therapy.
Holderfield M et al.
Nature, 2024
The Genomic, Transcriptomic, and Immunologic Landscape of HRAS Mutations in Solid Tumors.
Kareff SA et al.
Cancers, 2024
Prenatal Diagnosis by Trio Clinical Exome Sequencing: Single Center Experience.
Margiotti K et al.
Current Issues in Molecular Biology, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
The rapidly changing field of predictive biomarkers of non-small cell lung cancer.
Tóth LJ et al.
Pathology Oncology Research : Por, 2024
Mining cancer genomes for change-of-metabolic-function mutations.
Tu KJ et al.
Communications Biology, 2023
The spectrum of MAPK-ERK pathway genomic alterations in gynecologic malignancies: Opportunities for novel therapeutic approaches.
Nasioudis D et al.
Gynecologic Oncology, 2023
Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.
Sakthikumar S et al.
Veterinary and Comparative Oncology, 2023
A very mild phenotype in six individuals of a three-generation family with the novel HRAS variant c.176C > G p.(Ala59Gly): Emergence of a new HRAS-related RASopathy distinct from Costello syndrome.
Frey T et al.
American Journal of Medical Genetics. Part A, 2023
CRISPR prime editing for unconstrained correction of oncogenic KRAS variants.
Jang G et al.
Communications Biology, 2023
Cancer in Costello syndrome: a systematic review and meta-analysis.
Astiazaran-Symonds E et al.
British Journal of Cancer, 2023
Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.
Subasri V et al.
Cancer Research Communications, 2023
Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.
Wu TH et al.
Scientific Reports, 2023
The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.
Villani A et al.
Nature Cancer, 2023
Case Report: Longitudinal monitoring of clonal evolution by circulating tumor DNA for resistance to anti-EGFR antibody in a case of metastatic colorectal cancer.
Sagawa T et al.
Frontiers in Oncology, 2023