2021
Dual activating FGFR1 mutations in pediatric pilomyxoid astrocytoma
Fomchenko EI, Reeves BC, Sullivan W, Marks AM, Huttner A, Kahle KT, Erson‐Omay E. Dual activating FGFR1 mutations in pediatric pilomyxoid astrocytoma. Molecular Genetics & Genomic Medicine 2021, 9: e1597. PMID: 33448156, PMCID: PMC8077124, DOI: 10.1002/mgg3.1597.Peer-Reviewed Original ResearchMeSH KeywordsAstrocytomaBrain NeoplasmsHumansInfantMaleMutation, MissenseReceptor, Fibroblast Growth Factor, Type 1ConceptsPilomyxoid astrocytomaPediatric patientsVariant allele frequencyHypothalamic/chiasmatic regionPathologic tissue diagnosisTreatment-related morbidityHigh recurrence ratePI3K/mTOR inhibitionYears of ageExome sequencing resultsSimilar time pointsWhole exome sequencing resultsHypothalamic dysfunctionClinical presentationSurgical managementRecurrence rateShorter survivalAggressive subtypeVision lossChiasmatic regionTissue diagnosisPatient tumorsRadiation therapyFGFR inhibitorsFGFR1 mutations
2013
Hemoglobin shady grove: A novel fetal methemoglobin variant
Marks A, Luo H, Chui DH, Greenberg J. Hemoglobin shady grove: A novel fetal methemoglobin variant. Pediatric Blood & Cancer 2013, 60: e55-e56. PMID: 23460588, DOI: 10.1002/pbc.24503.Peer-Reviewed Original ResearchMeSH KeywordsAdultAmino Acid SubstitutionFemaleFetal HemoglobinHumansInfant, NewbornMaleMethemoglobinMutation, MissenseOximetry