2020
LGG-09. CORRELATING GENETIC SIGNATURE OF PILOMYXOID ASTROCYTOMAS AND PILOCYTIC ASTROCYTOMAS WITH QUALITATIVE AND QUANTITATIVE MR IMAGING CHARACTERISTICS
Fadel S, Omay Z, Darbinyan A, Bronen R, Fulbright R, Mahajan A, Aboian M. LGG-09. CORRELATING GENETIC SIGNATURE OF PILOMYXOID ASTROCYTOMAS AND PILOCYTIC ASTROCYTOMAS WITH QUALITATIVE AND QUANTITATIVE MR IMAGING CHARACTERISTICS. Neuro-Oncology 2020, 22: iii367-iii368. PMCID: PMC7715503, DOI: 10.1093/neuonc/noaa222.392.Peer-Reviewed Original ResearchKIAA1549-BRAF fusionBRAF V600E mutationWhole-exome sequencingBRAF-wildtypePilocytic astrocytomaWildtype tumorsV600E mutationImaging characteristicsExome sequencingAtypical imaging featuresMR imaging characteristicsMyxoid featuresPediatric patientsPilomyxoid astrocytomaIntraventricular extensionImaging featuresIntratumoral hemorrhageMRI characteristicsGermline sequencingAtypical featuresT1 intensityTumor localizationWildtype BRAFKIAA1549-BRAFPA correlates
2010
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations
Bilgüvar K, Öztürk A, Louvi A, Kwan KY, Choi M, Tatlı B, Yalnızoğlu D, Tüysüz B, Çağlayan A, Gökben S, Kaymakçalan H, Barak T, Bakırcıoğlu M, Yasuno K, Ho W, Sanders S, Zhu Y, Yılmaz S, Dinçer A, Johnson MH, Bronen RA, Koçer N, Per H, Mane S, Pamir MN, Yalçınkaya C, Kumandaş S, Topçu M, Özmen M, Šestan N, Lifton RP, State MW, Günel M. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature 2010, 467: 207-210. PMID: 20729831, PMCID: PMC3129007, DOI: 10.1038/nature09327.Peer-Reviewed Original ResearchConceptsAbnormal cortical developmentWD repeat domain 62 (WDR62) geneSevere brain malformationsWhole-exome sequencingBrain abnormalitiesBrain malformationsCortical developmentMolecular pathogenesisCerebellar hypoplasiaWDR62 mutationsEmbryonic neurogenesisDiagnostic classificationMicrocephaly genesSmall family sizeGenetic heterogeneityWide spectrumRecessive mutationsPachygyriaPathogenesisHypoplasiaNeocortexNeurogenesisAbnormalitiesMalformationsMutations