Featured Publications
NFB-05. A family-centered neurocutaneous syndrome clinic in the age of targeted therapies
Marks A, Antaya R, Balsamo L, Cardinale K, Cheron R, Frumberg D, Gentile V, Habib L, Puthenpura V, Zhang H. NFB-05. A family-centered neurocutaneous syndrome clinic in the age of targeted therapies. Neuro-Oncology 2022, 24: i129-i129. PMCID: PMC9165028, DOI: 10.1093/neuonc/noac079.469.Peer-Reviewed Original ResearchTuberous sclerosisPediatric patients 2 yearsYale-New Haven Children's HospitalInoperable plexiform neurofibromasPatients 2 yearsOwn side effectsYears of ageNeurofibromatosis type 1Multidisciplinary clinicNeurocutaneous syndromeChildren's HospitalPlexiform neurofibromaNeuro-oncologySide effectsSubspecialty consultationClinicType 1Young adultsSclerosisSyndromeHospitalTherapyAgeTreatmentClinical reasoning
2020
Persistent STAG2 mutation despite multimodal therapy in recurrent pediatric glioblastoma
Hong CS, Vasquez JC, Kundishora AJ, Elsamadicy AA, Beckta JM, Sule A, Marks AM, Leelatian N, Huttner A, Bindra RS, DiLuna ML, Kahle KT, Erson-Omay EZ. Persistent STAG2 mutation despite multimodal therapy in recurrent pediatric glioblastoma. Npj Genomic Medicine 2020, 5: 23. PMID: 32528726, PMCID: PMC7264170, DOI: 10.1038/s41525-020-0130-7.Peer-Reviewed Original ResearchPediatric patientsStandard chemoradiationSTAG2 mutationsTumor clonesPediatric glioblastomaGross total resectionMultiple surgical resectionsTime of recurrenceHigh-grade gliomasDNA damage repair defectsWhole-exome sequencingVariety of treatmentsSurgical resectionNovel deleterious mutationsStandard therapyTotal resectionVaccine therapyClinical evidencePreclinical dataTreatment optionsMultimodal therapyPreclinical studiesClinical settingTherapyAdult counterparts