Zeynep Erson Omay, PhD

• Angeliki Louvi
• Antonio Omuro
• Asher Marks
• Benjamin L. Judson
• Catherine Dinauer
• Juan Vasquez
• Katsuhito Yasuno
• Ketu Mishra-Gorur
• Mariam Aboian
• Murat Gunel
• Pallavi Gopal
• R Peter Manes
• Ranjit S. Bindra
• Sacit Bulent Omay
• Silvia Vilarinho
• Stephen Strittmatter

Glioblastoma; Meningioma; Pituitary Diseases; Central Nervous System Neoplasms; Computational Biology; Genomics; Precision Medicine; Epigenomics; Transcriptome

Bioinformatics; Cancer; Genetics, Genomics, Epigenetics

• Genomic profiling of sporadic multiple meningiomasErson-Omay EZ, Vetsa S, Vasandani S, Barak T, Nadar A, Marianayagam NJ, Yalcin K, Miyagishima D, Aguilera SM, Robert S, Mishra-Gorur K, Fulbright RK, McGuone D, Günel M, Moliterno J. Genomic profiling of sporadic multiple meningiomas. BMC Medical Genomics 2022, 15: 112. PMID: 35568945, PMCID: PMC9107270, DOI: 10.1186/s12920-022-01258-0.
• Genomic Analysis of Non-NF2 Meningiomas Reveals Mutations in TRAF7, KLF4, AKT1, and SMOClark VE, Erson-Omay EZ, Serin A, Yin J, Cotney J, Özduman K, Avşar T, Li J, Murray PB, Henegariu O, Yilmaz S, Günel JM, Carrión-Grant G, Yılmaz B, Grady C, Tanrıkulu B, Bakırcıoğlu M, Kaymakçalan H, Caglayan AO, Sencar L, Ceyhun E, Atik AF, Bayri Y, Bai H, Kolb LE, Hebert RM, Omay SB, Mishra-Gorur K, Choi M, Overton JD, Holland EC, Mane S, State MW, Bilgüvar K, Baehring JM, Gutin PH, Piepmeier JM, Vortmeyer A, Brennan CW, Pamir MN, Kılıç T, Lifton RP, Noonan JP, Yasuno K, Günel M. Genomic Analysis of Non-NF2 Meningiomas Reveals Mutations in TRAF7, KLF4, AKT1, and SMO. Science 2013, 339: 1077-1080. PMID: 23348505, PMCID: PMC4808587, DOI: 10.1126/science.1233009.
• Somatic POLE mutations cause an ultramutated giant cell high-grade glioma subtype with better prognosisErson-Omay EZ, Çağlayan AO, Schultz N, Weinhold N, Omay SB, Özduman K, Köksal Y, Li J, Harmancı A, Clark V, Carrión-Grant G, Baranoski J, Çağlar C, Barak T, Coşkun S, Baran B, Köse D, Sun J, Bakırcıoğlu M, Günel J, Pamir MN, Mishra-Gorur K, Bilguvar K, Yasuno K, Vortmeyer A, Huttner AJ, Sander C, Günel M. Somatic POLE mutations cause an ultramutated giant cell high-grade glioma subtype with better prognosis. Neuro-Oncology 2015, 17: 1356-1364. PMID: 25740784, PMCID: PMC4578578, DOI: 10.1093/neuonc/nov027.
• Longitudinal analysis of treatment-induced genomic alterations in gliomasErson-Omay EZ, Henegariu O, Omay SB, Harmancı AS, Youngblood MW, Mishra-Gorur K, Li J, Özduman K, Carrión-Grant G, Clark VE, Çağlar C, Bakırcıoğlu M, Pamir MN, Tabar V, Vortmeyer AO, Bilguvar K, Yasuno K, DeAngelis LM, Baehring JM, Moliterno J, Günel M. Longitudinal analysis of treatment-induced genomic alterations in gliomas. Genome Medicine 2017, 9: 12. PMID: 28153049, PMCID: PMC5290635, DOI: 10.1186/s13073-017-0401-9.
• Hypermutated phenotype in gliosarcoma of the spinal cordHong CS, Kuzmik GA, Kundishora AJ, Elsamadicy AA, Koo AB, McGuone D, Blondin NA, DiLuna ML, Erson-Omay EZ. Hypermutated phenotype in gliosarcoma of the spinal cord. Npj Precision Oncology 2021, 5: 8. PMID: 33580181, PMCID: PMC7881101, DOI: 10.1038/s41698-021-00143-w.
• Genetic characterization of an aggressive optic nerve pilocytic gliomaHong CS, Fliney G, Fisayo A, An Y, Gopal PP, Omuro A, Pointdujour-Lim R, Erson-Omay EZ, Omay SB. Genetic characterization of an aggressive optic nerve pilocytic glioma. Brain Tumor Pathology 2020, 38: 59-63. PMID: 33098465, PMCID: PMC7585354, DOI: 10.1007/s10014-020-00383-x.
• 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: 33579976, DOI: 10.1038/s41525-020-0130-7.
• Vascular steal and associated intratumoral aneurysms in highly vascular brain tumors: illustrative case.Hong C, Marianayagam N, Morales-Valero S, Barak T, Tabor J, O'Brien J, Huttner A, Baehring J, Gunel M, Erson-Omay E, Fulbright R, Matouk C, Moliterno J. Vascular steal and associated intratumoral aneurysms in highly vascular brain tumors: illustrative case. Journal Of Neurosurgery Case Lessons 2023, 5 PMID: 36880509, DOI: 10.3171/case22512.
• Epstein-Barr virus-associated primary intracranial leiomyosarcoma in an immunocompetent patient: illustrative case.Tabor J, Lei H, Morales-Valero S, O'Brien J, Gopal P, Erson-Omay E, Fulbright R, Moliterno J. Epstein-Barr virus-associated primary intracranial leiomyosarcoma in an immunocompetent patient: illustrative case. Journal Of Neurosurgery Case Lessons 2023, 5 PMID: 36692065, DOI: 10.3171/case22532.
• Spectrum of qualitative and quantitative imaging of pilomyxoid, intermediate pilomyxoid and pilocytic astrocytomas in relation to their genetic alterationsFadel SA, von Reppert M, Kazarian E, Omay EZE, Marks A, Linder N, Hoffmann KT, Darbinyan A, Huttner A, Aboian MS. Spectrum of qualitative and quantitative imaging of pilomyxoid, intermediate pilomyxoid and pilocytic astrocytomas in relation to their genetic alterations. Neuroradiology 2022, 65: 195-205. PMID: 35984480, DOI: 10.1007/s00234-022-03027-3.
• Biallelic inactivation of PBRM1 as a molecular driver in a rare pineoblastoma case: illustrative caseAntonios JP, Yalcin K, Darbinyan A, Koo A, Hong CS, DiLuna M, Erson-Omay Z. Biallelic inactivation of PBRM1 as a molecular driver in a rare pineoblastoma case: illustrative case. Journal Of Neurosurgery Case Lessons 2022, 3: case2213. PMID: 36303510, PMCID: PMC9379698, DOI: 10.3171/case2213.
• PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humansBarak T, Ristori E, Ercan-Sencicek AG, Miyagishima DF, Nelson-Williams C, Dong W, Jin SC, Prendergast A, Armero W, Henegariu O, Erson-Omay EZ, Harmancı AS, Guy M, Gültekin B, Kilic D, Rai DK, Goc N, Aguilera SM, Gülez B, Altinok S, Ozcan K, Yarman Y, Coskun S, Sempou E, Deniz E, Hintzen J, Cox A, Fomchenko E, Jung SW, Ozturk AK, Louvi A, Bilgüvar K, Connolly ES, Khokha MK, Kahle KT, Yasuno K, Lifton RP, Mishra-Gorur K, Nicoli S, Günel M. PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans. Nature Medicine 2021, 27: 2165-2175. PMID: 34887573, PMCID: PMC8768030, DOI: 10.1038/s41591-021-01572-7.
• Comprehensive Genomic Characterization of A Case of Granular Cell Tumor of the Posterior Pituitary Gland: A Case ReportHong CS, Elsamadicy AA, Fisayo A, Inzucchi SE, Gopal PP, Vining EM, Erson-Omay EZ, Omay S. Comprehensive Genomic Characterization of A Case of Granular Cell Tumor of the Posterior Pituitary Gland: A Case Report. Frontiers In Endocrinology 2021, 12: 762095. PMID: 34925233, PMCID: PMC8671743, DOI: 10.3389/fendo.2021.762095.
• The integrated multiomic diagnosis of sporadic meningiomas: a review of its clinical implicationsRobert SM, Vetsa S, Nadar A, Vasandani S, Youngblood MW, Gorelick E, Jin L, Marianayagam N, Erson-Omay EZ, Günel M, Moliterno J. The integrated multiomic diagnosis of sporadic meningiomas: a review of its clinical implications. Journal Of Neuro-Oncology 2021, 156: 205-214. PMID: 34846640, PMCID: PMC8816740, DOI: 10.1007/s11060-021-03874-9.
• PIK3CA mutation in a case of CTNNB1 mutant sinonasal glomangiopericytomaHong C, Khan M, Sukys J, Prasad M, Erson-Omay EZ, Vining E, Omay SB. PIK3CA mutation in a case of CTNNB1 mutant sinonasal glomangiopericytoma. Molecular Case Studies 2021, 8: mcs.a006120. PMID: 34667073, PMCID: PMC8744496, DOI: 10.1101/mcs.a006120.
• Type of bony involvement predicts genomic subgroup in sphenoid wing meningiomasJin L, Youngblood MW, Gupte TP, Vetsa S, Nadar A, Barak T, Yalcin K, Aguilera SM, Mishra-Gorur K, Blondin NA, Gorelick E, Omay SB, Pointdujour-Lim R, Judson BL, Alperovich M, Aboian MS, McGuone D, Gunel M, Erson-Omay Z, Fulbright RK, Moliterno J. Type of bony involvement predicts genomic subgroup in sphenoid wing meningiomas. Journal Of Neuro-Oncology 2021, 154: 237-246. PMID: 34350560, DOI: 10.1007/s11060-021-03819-2.
• Somatic NF1 mutations in pituitary adenomas: Report of two casesHong CS, Kundishora AJ, Elsamadicy AA, Koo AB, McGuone D, Inzucchi SE, Omay SB, Erson-Omay EZ. Somatic NF1 mutations in pituitary adenomas: Report of two cases. Cancer Genetics 2021, 256: 26-30. PMID: 33862521, DOI: 10.1016/j.cancergen.2021.03.004.
• Multiple meningiomas arising within the same hemisphere associated with Li-Fraumeni syndromeHong CS, Erson-Omay EZ, Moliterno J. Multiple meningiomas arising within the same hemisphere associated with Li-Fraumeni syndrome. Surgical Neurology International 2021, 12: 99. PMID: 33880204, PMCID: PMC8053471, DOI: 10.25259/sni_125_2019.
• A Quantitative Assessment of Pre-Operative MRI Reports in Glioma Patients: Report Metrics and IDH Prediction AbilityCao H, Erson-Omay EZ, Günel M, Moliterno J, Fulbright RK. A Quantitative Assessment of Pre-Operative MRI Reports in Glioma Patients: Report Metrics and IDH Prediction Ability. Frontiers In Oncology 2021, 10: 600327. PMID: 33585216, PMCID: PMC7879978, DOI: 10.3389/fonc.2020.600327.
• Clinical and genomic factors associated with seizures in meningiomas.Gupte TP, Li C, Jin L, Yalcin K, Youngblood MW, Miyagishima DF, Mishra-Gorur K, Zhao AY, Antonios J, Huttner A, McGuone D, Blondin NA, Contessa JN, Zhang Y, Fulbright RK, Gunel M, Erson-Omay Z, Moliterno J. Clinical and genomic factors associated with seizures in meningiomas. Journal Of Neurosurgery 2020, 135: 835-844. PMID: 33276341, DOI: 10.3171/2020.7.jns201042.
• Associations of meningioma molecular subgroup and tumor recurrence.Youngblood MW, Miyagishima DF, Jin L, Gupte T, Li C, Duran D, Montejo JD, Zhao A, Sheth A, Tyrtova E, Özduman K, Iacoangeli F, Peyre M, Boetto J, Pease M, Avşar T, Huttner A, Bilguvar K, Kilic T, Pamir MN, Amankulor N, Kalamarides M, Erson-Omay EZ, Günel M, Moliterno J. Associations of meningioma molecular subgroup and tumor recurrence. Neuro-Oncology 2020, 23: 783-794. PMID: 33068421, PMCID: PMC8099468, DOI: 10.1093/neuonc/noaa226.
• Genetic characterization of a case of sellar metastasis from bronchial carcinoid neuroendocrine tumorS ., Kundishora AJ, Elsamadicy AA, Koo AB, Beckta JM, McGuone D, Erson-Omay EZ, Omay SB. Genetic characterization of a case of sellar metastasis from bronchial carcinoid neuroendocrine tumor. Surgical Neurology International 2020, 11: 303. PMID: 33093980, PMCID: PMC7568119, DOI: 10.25259/sni_265_2020.
• Molecular Diagnosis and Extracranial Extension in Cushing DiseaseHong CS, Murari K, Gossmann M, Mahajan A, Erson-Omay Z, Manes RP, Omay SB. Molecular Diagnosis and Extracranial Extension in Cushing Disease. JAMA Otolaryngology - Head & Neck Surgery 2020, 146: 865-867. PMID: 32644156, DOI: 10.1001/jamaoto.2020.1471.
• METAP1 mutation is a novel candidate for autosomal recessive intellectual disabilityCaglayan AO, Aktar F, Bilguvar K, Baranoski JF, Akgumus GT, Harmanci AS, Erson-Omay EZ, Yasuno K, Caksen H, Gunel M. METAP1 mutation is a novel candidate for autosomal recessive intellectual disability. Journal Of Human Genetics 2020, 66: 215-218. PMID: 32764695, PMCID: PMC7785574, DOI: 10.1038/s10038-020-0820-0.
• Genomic alterations in Turcot syndrome: Insights from whole exome sequencingKarschnia P, Erson-Omay EZ, Huttner AJ, Kaulen LD, Duran D, Fulbright RK, Günel M, Baehring JM. Genomic alterations in Turcot syndrome: Insights from whole exome sequencing. Journal Of The Neurological Sciences 2020, 417: 117056. PMID: 32739502, DOI: 10.1016/j.jns.2020.117056.
• Large-scale second-hit AIP deletion causing a pediatric growth hormone-secreting pituitary adenoma: Case report and review of literatureGummadavelli A, Dinauer C, McGuone D, Vining EM, Erson-Omay EZ, Omay SB. Large-scale second-hit AIP deletion causing a pediatric growth hormone-secreting pituitary adenoma: Case report and review of literature. Journal Of Clinical Neuroscience 2020, 78: 420-422. PMID: 32336638, DOI: 10.1016/j.jocn.2020.04.103.
• The Clinical Implications of Spontaneous Hemorrhage in Vestibular SchwannomasHong CS, Jin L, David WB, Shear B, Zhao AY, Zhang Y, Erson-Omay EZ, Fulbright RK, Huttner A, Kveton J, Moliterno J. The Clinical Implications of Spontaneous Hemorrhage in Vestibular Schwannomas. Journal Of Neurological Surgery Part B Skull Base 2020, 82: e22-e32. PMID: 34306914, PMCID: PMC8289498, DOI: 10.1055/s-0040-1701676.
• Correction to: A quantitative model based on clinically relevant MRI features differentiates lower grade gliomas and glioblastomaCao H, Erson-Omay EZ, Li X, Günel M, Moliterno J, Fulbright RK. Correction to: A quantitative model based on clinically relevant MRI features differentiates lower grade gliomas and glioblastoma. European Radiology 2020, 30: 4145-4145. PMID: 32152743, DOI: 10.1007/s00330-020-06774-0.
• The Genomic Landscape of MeningiomasZhao, A.Y., Youngblood, M.W., Erson-Omay, E.Z., Moliterno, J., Gunel, M. (2020). The Genomic Landscape of Meningiomas. In: Moliterno, J., Omuro, A. (eds) Meningiomas. Springer, Cham. https://doi.org/10.1007/978-3-030-59558-6_4
• Correlations between genomic subgroup and clinical features in a cohort of more than 3000 meningiomas.Youngblood MW, Duran D, Montejo JD, Li C, Omay SB, Özduman K, Sheth AH, Zhao AY, Tyrtova E, Miyagishima DF, Fomchenko EI, Hong CS, Clark VE, Riche M, Peyre M, Boetto J, Sohrabi S, Koljaka S, Baranoski JF, Knight J, Zhu H, Pamir MN, Avşar T, Kilic T, Schramm J, Timmer M, Goldbrunner R, Gong Y, Bayri Y, Amankulor N, Hamilton RL, Bilguvar K, Tikhonova I, Tomak PR, Huttner A, Simon M, Krischek B, Kalamarides M, Erson-Omay EZ, Moliterno J, Günel M. Correlations between genomic subgroup and clinical features in a cohort of more than 3000 meningiomas. Journal Of Neurosurgery 2019, 133: 1-10. PMID: 31653806, DOI: 10.3171/2019.8.jns191266.
• Genomic alterations underlying spinal metastases in pediatric H3K27M-mutant pineal parenchymal tumor of intermediate differentiation: case report.Fomchenko EI, Erson-Omay EZ, Kundishora AJ, Hong CS, Daniel AA, Allocco A, Duy PQ, Darbinyan A, Marks AM, DiLuna ML, Kahle KT, Huttner A. Genomic alterations underlying spinal metastases in pediatric H3K27M-mutant pineal parenchymal tumor of intermediate differentiation: case report. Journal Of Neurosurgery Pediatrics 2019, 25: 1-10. PMID: 31653819, DOI: 10.3171/2019.8.peds18664.
• A novel finding of an IDH2 mutation in an interesting adult Sonic Hedgehog mutated medulloblastoma.Fomchenko EI, Erson-Omay EZ, Moliterno J. A novel finding of an IDH2 mutation in an interesting adult Sonic Hedgehog mutated medulloblastoma. Journal Of Neuro-oncology 2019, 144: 231-233. PMID: 31187320, DOI: 10.1007/s11060-019-03207-x.
• DNMT3A co-mutation in an IDH1-mutant glioblastomaFomchenko EI, Erson-Omay EZ, Zhao A, Bindra RS, Huttner A, Fulbright RK, Moliterno J. DNMT3A co-mutation in an IDH1-mutant glioblastoma. Molecular Case Studies 2019, 5: a004119. PMID: 31371348, PMCID: PMC6672028, DOI: 10.1101/mcs.a004119.
• De novo MYH9 mutation in congenital scalp hemangiomaFomchenko EI, Duran D, Jin SC, Dong W, Erson-Omay EZ, Antwi P, Allocco A, Gaillard JR, Huttner A, Gunel M, DiLuna ML, Kahle KT. De novo MYH9 mutation in congenital scalp hemangioma. Molecular Case Studies 2018, 4: a002998. PMID: 29903892, PMCID: PMC6071566, DOI: 10.1101/mcs.a002998.
• Whole-Exome Sequencing of an Exceptional Longevity Cohort.Nygaard HB, Erson-Omay EZ, Wu X, Kent BA, Bernales CQ, Evans DM, Farrer MJ, Vilariño-Güell C, Strittmatter SM. Whole-Exome Sequencing of an Exceptional Longevity Cohort. The Journals Of Gerontology Series A 2018, 74: 1386-1390. PMID: 29750252, PMCID: PMC6696723, DOI: 10.1093/gerona/gly098.
• Correction: Author Correction: Integrated genomic analyses of de novo pathways underlying atypical meningiomasHarmancı AS, Youngblood MW, Clark VE, Coşkun S, Henegariu O, Duran D, Erson-Omay EZ, Kaulen LD, Lee TI, Abraham BJ, Simon M, Krischek B, Timmer M, Goldbrunner R, Omay SB, Baranoski J, Baran B, Carrión-Grant G, Bai H, Mishra-Gorur K, Schramm J, Moliterno J, Vortmeyer AO, Bilgüvar K, Yasuno K, Young RA, Günel M. Correction: Author Correction: Integrated genomic analyses of de novo pathways underlying atypical meningiomas. Nature Communications 2018, 9: 16215. PMID: 29676392, PMCID: PMC5919704, DOI: 10.1038/ncomms16215.
• Use of telomerase promoter mutations to mark specific molecular subsets with reciprocal clinical behavior in IDH mutant and IDH wild-type diffuse gliomas.Akyerli CB, Yüksel Ş, Can Ö, Erson-Omay EZ, Oktay Y, Coşgun E, Ülgen E, Erdemgil Y, Sav A, von Deimling A, Günel M, Yakıcıer MC, Pamir MN, Özduman K. Use of telomerase promoter mutations to mark specific molecular subsets with reciprocal clinical behavior in IDH mutant and IDH wild-type diffuse gliomas. Journal Of Neurosurgery 2017, 128: 1102-1114. PMID: 28621624, DOI: 10.3171/2016.11.jns16973.
• Integrated genomic analyses of de novo pathways underlying atypical meningiomasHarmancı AS, Youngblood MW, Clark VE, Coşkun S, Henegariu O, Duran D, Erson-Omay EZ, Kaulen LD, Lee TI, Abraham BJ, Simon M, Krischek B, Timmer M, Goldbrunner R, Omay SB, Baranoski J, Baran B, Carrión-Grant G, Bai H, Mishra-Gorur K, Schramm J, Moliterno J, Vortmeyer AO, Bilgüvar K, Yasuno K, Young RA, Günel M. Integrated genomic analyses of de novo pathways underlying atypical meningiomas. Nature Communications 2017, 8: 14433. PMID: 28195122, PMCID: PMC5316884, DOI: 10.1038/ncomms14433.
• Personalized Medicine Through Advanced GenomicsYoungblood, M.W., Erson-Omay, E.Z., Günel, M. (2017). Personalized Medicine Through Advanced Genomics. In: Moliterno Gunel, J., Piepmeier, J., Baehring, J. (eds) Malignant Brain Tumors . Springer, Cham. https://doi.org/10.1007/978-3-319-49864-5_3
• Recurrent somatic mutations in POLR2A define a distinct subset of meningiomasClark VE, Harmancı AS, Bai H, Youngblood MW, Lee TI, Baranoski JF, Ercan-Sencicek AG, Abraham BJ, Weintraub AS, Hnisz D, Simon M, Krischek B, Erson-Omay EZ, Henegariu O, Carrión-Grant G, Mishra-Gorur K, Durán D, Goldmann JE, Schramm J, Goldbrunner R, Piepmeier JM, Vortmeyer AO, Günel JM, Bilgüvar K, Yasuno K, Young RA, Günel M. Recurrent somatic mutations in POLR2A define a distinct subset of meningiomas. Nature Genetics 2016, 48: 1253-1259. PMID: 27548314, PMCID: PMC5114141, DOI: 10.1038/ng.3651.
• Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary MicrocephalyLi H, Bielas SL, Zaki MS, Ismail S, Farfara D, Um K, Rosti RO, Scott EC, Tu S, Chi NC, Gabriel S, Erson-Omay EZ, Ercan-Sencicek AG, Yasuno K, Çağlayan AO, Kaymakçalan H, Ekici B, Bilguvar K, Gunel M, Gleeson JG. Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly. American Journal Of Human Genetics 2016, 99: 501-510. PMID: 27453578, PMCID: PMC4974110, DOI: 10.1016/j.ajhg.2016.07.004.
• IDH-mutant glioma specific association of rs55705857 located at 8q24.21 involves MYC deregulationOktay Y, Ülgen E, Can Ö, Akyerli CB, Yüksel Ş, Erdemgil Y, Durası İ, Henegariu OI, Nanni EP, Selevsek N, Grossmann J, Erson-Omay EZ, Bai H, Gupta M, Lee W, Turcan Ş, Özpınar A, Huse JT, Sav MA, Flanagan A, Günel M, Sezerman OU, Yakıcıer MC, Pamir MN, Özduman K. IDH-mutant glioma specific association of rs55705857 located at 8q24.21 involves MYC deregulation. Scientific Reports 2016, 6: 27569. PMID: 27282637, PMCID: PMC4901315, DOI: 10.1038/srep27569.
• A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETPÇağlayan AO, Tüysüz B, Coşkun S, Quon J, Harmancı AS, Baranoski JF, Baran B, Erson-Omay EZ, Henegariu O, Mane SM, Bilgüvar K, Yasuno K, Günel M. A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP. Journal Of Human Genetics 2016, 61: 395-403. PMID: 26740239, PMCID: PMC4880488, DOI: 10.1038/jhg.2015.160.
• Integrated genomic characterization of IDH1-mutant glioma malignant progressionBai H, Harmancı AS, Erson-Omay EZ, Li J, Coşkun S, Simon M, Krischek B, Özduman K, Omay SB, Sorensen EA, Turcan Ş, Bakırcığlu M, Carrión-Grant G, Murray PB, Clark VE, Ercan-Sencicek AG, Knight J, Sencar L, Altınok S, Kaulen LD, Gülez B, Timmer M, Schramm J, Mishra-Gorur K, Henegariu O, Moliterno J, Louvi A, Chan TA, Tannheimer SL, Pamir MN, Vortmeyer AO, Bilguvar K, Yasuno K, Günel M. Integrated genomic characterization of IDH1-mutant glioma malignant progression. Nature Genetics 2015, 48: 59-66. PMID: 26618343, PMCID: PMC4829945, DOI: 10.1038/ng.3457.
• Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural ProgenitorsMishra-Gorur K, Çağlayan AO, Schaffer AE, Chabu C, Henegariu O, Vonhoff F, Akgümüş GT, Nishimura S, Han W, Tu S, Baran B, Gümüş H, Dilber C, Zaki MS, Hossni HAA, Rivière JB, Kayserili H, Spencer EG, Rosti RÖ, Schroth J, Per H, Çağlar C, Çağlar Ç, Dölen D, Baranoski JF, Kumandaş S, Minja FJ, Erson-Omay EZ, Mane SM, Lifton RP, Xu T, Keshishian H, Dobyns WB, Chi NC, Šestan N, Louvi A, Bilgüvar K, Yasuno K, Gleeson JG, Günel M. Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors. Neuron 2015, 85: 228. PMID: 29654772, DOI: 10.1016/j.neuron.2014.12.046.
• Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural ProgenitorsMishra-Gorur K, Çağlayan AO, Schaffer AE, Chabu C, Henegariu O, Vonhoff F, Akgümüş GT, Nishimura S, Han W, Tu S, Baran B, Gümüş H, Dilber C, Zaki MS, Hossni HA, Rivière JB, Kayserili H, Spencer EG, Rosti RÖ, Schroth J, Per H, Çağlar C, Çağlar Ç, Dölen D, Baranoski JF, Kumandaş S, Minja FJ, Erson-Omay EZ, Mane SM, Lifton RP, Xu T, Keshishian H, Dobyns WB, Chi NC, Šestan N, Louvi A, Bilgüvar K, Yasuno K, Gleeson JG, Günel M. Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors. Neuron 2014, 84: 1226-1239. PMID: 25521378, PMCID: PMC5024344, DOI: 10.1016/j.neuron.2014.12.014.
• NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathyCaglayan AO, Comu S, Baranoski JF, Parman Y, Kaymakçalan H, Akgumus GT, Caglar C, Dolen D, Erson-Omay EZ, Harmanci AS, Mishra-Gorur K, Freeze HH, Yasuno K, Bilguvar K, Gunel M. NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy. European Journal Of Medical Genetics 2014, 58: 39-43. PMID: 25220016, PMCID: PMC4804755, DOI: 10.1016/j.ejmg.2014.08.008.
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