Murat Gunel
Research & Publications
Biography
News
Research Summary
My lab has three major research interests: the first two relate to the molecular genetics and biology of hemorrhagic stroke, focusing on brain aneurysms and cavernous malformations, and the third centers on gene discovery in developmental structural brain disorders (cerebral malformations).
The overall approach of my lab is to start with a focus on gene discovery through modern, cutting edge molecular genetics and moving on to molecular biology and functional analysis of disease in order to design diagnostics and non-invasive novel treatments.
Specialized Terms: Molecular genetics and biology of brain aneurysms and cavernous malformations; Molecular genetics of brain development
Extensive Research Description
- Molecular Genetics of Intracranial Aneurysms
- Molecular Genetics and Biology of Cavernous Malformations
- Cerebral Malformations in Developmental Structural Brain Disorders
Coauthors
Research Interests
Aneurysm; Brain; Genetics; Molecular Biology; Neurobiology; Neurosurgery; Hemangioma, Cavernous, Central Nervous System
Selected Publications
- A Founder Mutation as a Cause of Cerebral Cavernous Malformation in Hispanic AmericansGünel M, Awad I, Finberg K, Anson J, Steinberg G, Batjer H, Kopitnik T, Morrison L, Giannotta S, Nelson-Williams C, Lifton R. A Founder Mutation as a Cause of Cerebral Cavernous Malformation in Hispanic Americans. New England Journal Of Medicine 1996, 334: 946-951. PMID: 8596595, DOI: 10.1056/nejm199604113341503.
- Susceptibility loci for intracranial aneurysm in European and Japanese populationsBilguvar K, Yasuno K, Niemelä M, Ruigrok YM, von und zu Fraunberg M, van Duijn CM, van den Berg LH, Mane S, Mason CE, Choi M, Gaál E, Bayri Y, Kolb L, Arlier Z, Ravuri S, Ronkainen A, Tajima A, Laakso A, Hata A, Kasuya H, Koivisto T, Rinne J, Öhman J, Breteler MM, Wijmenga C, State MW, Rinkel GJ, Hernesniemi J, Jääskeläinen JE, Palotie A, Inoue I, Lifton RP, Günel M. Susceptibility loci for intracranial aneurysm in European and Japanese populations. Nature Genetics 2008, 40: 1472-1477. PMID: 18997786, PMCID: PMC2682433, DOI: 10.1038/ng.240.
- Apoptotic Functions of PDCD10/CCM3, the Gene Mutated in Cerebral Cavernous Malformation 3Chen L, Tanriover G, Yano H, Friedlander R, Louvi A, Gunel M. Apoptotic Functions of PDCD10/CCM3, the Gene Mutated in Cerebral Cavernous Malformation 3. Stroke 2009, 40: 1474-1481. PMID: 19246713, PMCID: PMC2709460, DOI: 10.1161/strokeaha.108.527135.
- The quest to unravel the complex genomics of intracranial aneurysmsBarak T, Günel M. The quest to unravel the complex genomics of intracranial aneurysms. Nature Cardiovascular Research 2022, 1: 281-282. DOI: 10.1038/s44161-022-00051-7.
- Genome-wide association study of intracranial aneurysm identifies three new risk lociYasuno K, Bilguvar K, Bijlenga P, Low SK, Krischek B, Auburger G, Simon M, Krex D, Arlier Z, Nayak N, Ruigrok YM, Niemelä M, Tajima A, von und zu Fraunberg M, Dóczi T, Wirjatijasa F, Hata A, Blasco J, Oszvald A, Kasuya H, Zilani G, Schoch B, Singh P, Stüer C, Risselada R, Beck J, Sola T, Ricciardi F, Aromaa A, Illig T, Schreiber S, van Duijn CM, van den Berg LH, Perret C, Proust C, Roder C, Ozturk AK, Gaál E, Berg D, Geisen C, Friedrich CM, Summers P, Frangi AF, State MW, Wichmann HE, Breteler MM, Wijmenga C, Mane S, Peltonen L, Elio V, Sturkenboom MC, Lawford P, Byrne J, Macho J, Sandalcioglu EI, Meyer B, Raabe A, Steinmetz H, Rüfenacht D, Jääskeläinen JE, Hernesniemi J, Rinkel GJ, Zembutsu H, Inoue I, Palotie A, Cambien F, Nakamura Y, Lifton RP, Günel M. Genome-wide association study of intracranial aneurysm identifies three new risk loci. Nature Genetics 2010, 42: 420-425. PMID: 20364137, PMCID: PMC2861730, DOI: 10.1038/ng.563.
- Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformationsBilgüvar 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.
- Common variant near the endothelin receptor type A (EDNRA) gene is associated with intracranial aneurysm riskYasuno K, Bakırcıoğlu M, Low SK, Bilgüvar K, Gaál E, Ruigrok YM, Niemelä M, Hata A, Bijlenga P, Kasuya H, Jääskeläinen JE, Krex D, Auburger G, Simon M, Krischek B, Ozturk AK, Mane S, Rinkel GJ, Steinmetz H, Hernesniemi J, Schaller K, Zembutsu H, Inoue I, Palotie A, Cambien F, Nakamura Y, Lifton RP, Günel M. Common variant near the endothelin receptor type A (EDNRA) gene is associated with intracranial aneurysm risk. Proceedings Of The National Academy Of Sciences Of The United States Of America 2011, 108: 19707-19712. PMID: 22106312, PMCID: PMC3241810, DOI: 10.1073/pnas.1117137108.
- De novo mutations revealed by whole-exome sequencing are strongly associated with autismSanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ, Ercan-Sencicek AG, DiLullo NM, Parikshak NN, Stein JL, Walker MF, Ober GT, Teran NA, Song Y, El-Fishawy P, Murtha RC, Choi M, Overton JD, Bjornson RD, Carriero NJ, Meyer KA, Bilguvar K, Mane SM, Šestan N, Lifton RP, Günel M, Roeder K, Geschwind DH, Devlin B, State MW. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 2012, 485: 237-241. PMID: 22495306, PMCID: PMC3667984, DOI: 10.1038/nature10945.
- 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.
- Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegenerationBilguvar K, Tyagi NK, Ozkara C, Tuysuz B, Bakircioglu M, Choi M, Delil S, Caglayan AO, Baranoski JF, Erturk O, Yalcinkaya C, Karacorlu M, Dincer A, Johnson MH, Mane S, Chandra SS, Louvi A, Boggon TJ, Lifton RP, Horwich AL, Gunel M. Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration. Proceedings Of The National Academy Of Sciences Of The United States Of America 2013, 110: 3489-3494. PMID: 23359680, PMCID: PMC3587195, DOI: 10.1073/pnas.1222732110.
- 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.
- 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.
- 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.
- 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.
- 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.
- Combined HMG-COA reductase and prenylation inhibition in treatment of CCMNishimura S, Mishra-Gorur K, Park J, Surovtseva YV, Sebti SM, Levchenko A, Louvi A, Gunel M. Combined HMG-COA reductase and prenylation inhibition in treatment of CCM. Proceedings Of The National Academy Of Sciences Of The United States Of America 2017, 114: 5503-5508. PMID: 28500274, PMCID: PMC5448170, DOI: 10.1073/pnas.1702942114.
- 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.
- 157 Identifying Spatial Transcriptomics Signaling Networks in Human Glioblastoma Using Graph-Based Machine LearningMiyagishima D, Kuchroo M, Steach H, Phan D, Godavarthi A, Takeo Y, Barak T, Youlten S, Gorur K, Moliterno J, Erson-Omay Z, McGuone D, Krishnaswamy S, Gunel M. 157 Identifying Spatial Transcriptomics Signaling Networks in Human Glioblastoma Using Graph-Based Machine Learning. Neurosurgery 2023, 69: 42-42. DOI: 10.1227/neu.0000000000002375_157.
- Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cystsKundishora A, Allington G, McGee S, Mekbib K, Gainullin V, Timberlake A, Nelson-Williams C, Kiziltug E, Smith H, Ocken J, Shohfi J, Allocco A, Duy P, Elsamadicy A, Dong W, Zhao S, Wang Y, Qureshi H, DiLuna M, Mane S, Tikhonova I, Fu P, Castaldi C, López-Giráldez F, Knight J, Furey C, Carter B, Haider S, Moreno-De-Luca A, Alper S, Gunel M, Millan F, Lifton R, Torene R, Jin S, Kahle K. Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts. Nature Medicine 2023, 29: 667-678. PMID: 36879130, DOI: 10.1038/s41591-023-02238-2.
- 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, 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.
- The Genomic Profiles and Clinical Manifestations of Sporadic Meningiomas Vary amongst Racial and Ethnic GroupsTabor J, O'Brien J, Lei H, Vetsa S, Vasandani S, Jalal M, Yalcin K, Morales-Valero S, Marianayagam N, Elsamadicy A, Chavez M, Qureshi H, Sandhu M, Aguilera S, Mishra-Gorur K, McGuone D, Fulbright R, Jin L, Erson-Omay E, Gunel M, Moliterno J. The Genomic Profiles and Clinical Manifestations of Sporadic Meningiomas Vary amongst Racial and Ethnic Groups. Journal Of Neurological Surgery Part B Skull Base 2023, 84: s1-s344. DOI: 10.1055/s-0043-1761995.
- Abstract 51: Apoe Epsilon 4 And Risk Of Bleeding Patients With Brain Arteriovenous Malformations. A Combined Genetic Study In The Uk Biobank And All Of UsRenedo D, Rivier C, Acosta J, Clocchiatti S, Wu K, Torres-Lopez V, Sheth K, Gunel M, Matouk C, Falcone G. Abstract 51: Apoe Epsilon 4 And Risk Of Bleeding Patients With Brain Arteriovenous Malformations. A Combined Genetic Study In The Uk Biobank And All Of Us. Stroke 2023, 54: a51-a51. DOI: 10.1161/str.54.suppl_1.51.
- Hormone therapies in meningioma-where are we?Miyagishima D, Moliterno J, Claus E, Günel M. Hormone therapies in meningioma-where are we? Journal Of Neuro-Oncology 2022, 161: 297-308. PMID: 36418843, PMCID: PMC10371392, DOI: 10.1007/s11060-022-04187-1.
- EPCO-40. INFRATENTORIAL NF2 MUTANT SPORADIC MENINGIOMAS DIFFER FROM THOSE IN SUPRATENTORIAL LOCATIONS AND ARE MORE BENIGNVasandani S, Vetsa S, Jalal M, Yalcin K, Marianayagam N, Nadar A, Jin L, Fulbright R, Erson-Omay E, Günel M, Moliterno J. EPCO-40. INFRATENTORIAL NF2 MUTANT SPORADIC MENINGIOMAS DIFFER FROM THOSE IN SUPRATENTORIAL LOCATIONS AND ARE MORE BENIGN. Neuro-Oncology 2022, 24: vii125-vii125. DOI: 10.1093/neuonc/noac209.474.
- DISP-09. THE GENOMIC PROFILES AND CLINICAL MANIFESTATIONS OF MENINGIOMAS VARY AMONGST DIFFERENT RACESVetsa S, Vasandani S, Jalal M, Yalcin K, Youngblood M, Marianayagam N, Elsamadicy A, Qureshi H, Nadar A, Sandhu M, Aguilera S, Mishra-Gorur K, McGuone D, Fulbright R, Jin L, Erson-Omay E, Günel M, Moliterno J. DISP-09. THE GENOMIC PROFILES AND CLINICAL MANIFESTATIONS OF MENINGIOMAS VARY AMONGST DIFFERENT RACES. Neuro-Oncology 2022, 24: vii129-vii129. PMCID: PMC9660293, DOI: 10.1093/neuonc/noac209.491.
- P11.46.A Whole exome sequencing identifies novel SLIT2 mutations in primary CNS lymphomaKaulen L, Erson-Omay E, Henegariu O, Karschnia P, Huttner A, Günel M, Baehring J. P11.46.A Whole exome sequencing identifies novel SLIT2 mutations in primary CNS lymphoma. Neuro-Oncology 2022, 24: ii68-ii68. PMCID: PMC9443199, DOI: 10.1093/neuonc/noac174.235.
- Cross-platform analysis reveals cellular and molecular landscape of glioblastoma invasion.Chen AT, Xiao Y, Tang X, Baqri M, Gao X, Reschke M, Sheu WC, Long G, Zhou Y, Deng G, Zhang S, Deng Y, Bai Z, Kim D, Huttner A, Kunes R, Günel M, Moliterno J, Saltzman WM, Fan R, Zhou J. Cross-platform analysis reveals cellular and molecular landscape of glioblastoma invasion. Neuro-Oncology 2022, 25: 482-494. PMID: 35901838, PMCID: PMC10013636, DOI: 10.1093/neuonc/noac186.
- Interferon-γ resistance and immune evasion in glioma develop via Notch-regulated co-evolution of malignant and immune cellsParmigiani E, Ivanek R, Rolando C, Hafen K, Turchinovich G, Lehmann FM, Gerber A, Brkic S, Frank S, Meyer SC, Wakimoto H, Günel M, Louvi A, Mariani L, Finke D, Holländer G, Hutter G, Tussiwand R, Taylor V, Giachino C. Interferon-γ resistance and immune evasion in glioma develop via Notch-regulated co-evolution of malignant and immune cells. Developmental Cell 2022, 57: 1847-1865.e9. PMID: 35803280, DOI: 10.1016/j.devcel.2022.06.006.
- 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.
- Mutation spectrum of congenital heart disease in a consanguineous Turkish populationDong W, Kaymakcalan H, Jin SC, Diab NS, Tanıdır C, Yalcin ASY, Ercan‐Sencicek A, Mane S, Gunel M, Lifton RP, Bilguvar K, Brueckner M. Mutation spectrum of congenital heart disease in a consanguineous Turkish population. Molecular Genetics & Genomic Medicine 2022, 10: e1944. PMID: 35481623, PMCID: PMC9184665, DOI: 10.1002/mgg3.1944.
- Clinical Implications of the Genomic Profiling of Sporadic Multiple MeningiomasVetsa S, Vasandani S, Barak T, Yalcin K, Jalal M, Nadar A, Aguilera S, Mishra-Gorur K, Miyagishima D, Marianayanam N, Fulbright R, McGuone D, Günel M, Erson-Omay E, Moliterno J. Clinical Implications of the Genomic Profiling of Sporadic Multiple Meningiomas. Journal Of Neurological Surgery Part B Skull Base 2022, 83: s1-s270. DOI: 10.1055/s-0042-1743783.
- TRAF7 Mutated Subgroups Differ in Sphenoid Wing Meningiomas with HyperostosisJin L, Vetsa S, Vasandani S, Nadar A, Youngblood M, Gupte T, Barak T, Yalcin K, Aguilera S, Mishra-Gorur K, Blondin N, Gorelick E, Omay S, Pointdujour-Lim R, Judson B, Alperovich M, Aboian M, Marianayagam N, McGuone D, Gunel M, Erson-Omay Z, Fulbright R, Moliterno J. TRAF7 Mutated Subgroups Differ in Sphenoid Wing Meningiomas with Hyperostosis. Journal Of Neurological Surgery Part B Skull Base 2022, 83: s1-s270. DOI: 10.1055/s-0042-1743640.
- NF2 Mutant Sporadic Meningiomas Differ Based on Location Relative to the TentoriumVasandani S, Vetsa S, Jalal M, Kanat Y, Marianayagam N, Jin L, Fulbright R, Erson-Omay E, Gunel M, Moliterno J. NF2 Mutant Sporadic Meningiomas Differ Based on Location Relative to the Tentorium. Journal Of Neurological Surgery Part B Skull Base 2022, 83: s1-s270. DOI: 10.1055/s-0042-1743734.
- 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.
- EPCO-29. GENOMIC PROFILING OF SPORADIC MULTIPLE MENINGIOMASErson-Omay Z, Barak T, Vetsa S, Nadar A, Miyagishima D, Yalcin K, Aguilera S, Mishra-Gorur K, McGuone D, Fulbright R, Gunel M, Moliterno-Gunel J. EPCO-29. GENOMIC PROFILING OF SPORADIC MULTIPLE MENINGIOMAS. Neuro-Oncology 2021, 23: vi8-vi8. DOI: 10.1093/neuonc/noab196.028.
- INNV-09. SURGICAL STRATEGIES FOR OLDER PATIENTS WITH GLIOBLASTOMABarak T, Hwang L, Chen J, Jin L, Miyagishima D, Yalcin K, Ogilvie S, Antonios J, Theriault B, Huttner A, McGuone D, Lifton N, Blondin N, Corbin Z, Zhang Y, Gunel M, Erson-Omay Z, Fulbright R, Tabar T, Moliterno-Gunel J. INNV-09. SURGICAL STRATEGIES FOR OLDER PATIENTS WITH GLIOBLASTOMA. Neuro-Oncology 2021, 23: vi107-vi107. PMCID: PMC8598632, DOI: 10.1093/neuonc/noab196.421.
- NIMG-64. TYPE OF BONY INVOLVEMENT PREDICTS GENOMIC SUBGROUP IN SPHENOID WING MENINGIOMASJin L, Youngblood M, Gupte T, Vetsa S, Nadar A, Barak T, Yalcin K, Aguilera S, Mishra-Gorur K, Blondin N, Omay S, Pointdujour-Lim R, Judson B, Alperovich M, Aboian M, McGuone D, Gunel M, Erson-Omay Z, Fulbright R, Moliterno J. NIMG-64. TYPE OF BONY INVOLVEMENT PREDICTS GENOMIC SUBGROUP IN SPHENOID WING MENINGIOMAS. Neuro-Oncology 2021, 23: vi144-vi144. PMCID: PMC8598770, DOI: 10.1093/neuonc/noab196.562.
- Genetically Determined Low‐Density Lipoprotein Cholesterol and Risk of Subarachnoid HemorrhageAcosta JN, Both CP, Szejko N, Leasure AC, Abdelhakim S, Torres‐Lopez V, Brown SC, Matouk CC, Gunel M, Sheth KN, Falcone GJ. Genetically Determined Low‐Density Lipoprotein Cholesterol and Risk of Subarachnoid Hemorrhage. Annals Of Neurology 2021, 91: 145-149. PMID: 34709661, DOI: 10.1002/ana.26250.
- The genetic structure of the Turkish population reveals high levels of variation and admixtureKars ME, Başak AN, Onat OE, Bilguvar K, Choi J, Itan Y, Çağlar C, Palvadeau R, Casanova JL, Cooper DN, Stenson PD, Yavuz A, Buluş H, Günel M, Friedman JM, Özçelik T. The genetic structure of the Turkish population reveals high levels of variation and admixture. Proceedings Of The National Academy Of Sciences Of The United States Of America 2021, 118: e2026076118. PMID: 34426522, PMCID: PMC8433500, DOI: 10.1073/pnas.2026076118.
- 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.
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- Targeting the CSF1/CSF1R axis is a potential treatment strategy for malignant meningiomas.Yeung J, Yaghoobi V, Miyagishima D, Vesely MD, Zhang T, Badri T, Nassar A, Han X, Sanmamed MF, Youngblood M, Peyre M, Kalamarides M, Rimm DL, Gunel M, Chen L. Targeting the CSF1/CSF1R axis is a potential treatment strategy for malignant meningiomas. Neuro-Oncology 2021, 23: 1922-1935. PMID: 33914067, PMCID: PMC8563319, DOI: 10.1093/neuonc/noab075.
- Clinical characteristics and outcomes for 7,995 patients with SARS-CoV-2 infectionMcPadden J, Warner F, Young HP, Hurley NC, Pulk RA, Singh A, Durant TJS, Gong G, Desai N, Haimovich A, Taylor RA, Gunel M, Dela Cruz CS, Farhadian SF, Siner J, Villanueva M, Churchwell K, Hsiao A, Torre CJ, Velazquez EJ, Herbst RS, Iwasaki A, Ko AI, Mortazavi BJ, Krumholz HM, Schulz WL. Clinical characteristics and outcomes for 7,995 patients with SARS-CoV-2 infection. PLOS ONE 2021, 16: e0243291. PMID: 33788846, PMCID: PMC8011821, DOI: 10.1371/journal.pone.0243291.
- Abstract P412: Klotho -vS Heterozygosity is Associated With Lower Risk of Non-Traumatic Subarachnoid HemorrhageAcosta J, Szejko N, Torres Lopez V, Both C, Sansing L, Sheth K, Matouk C, Gunel M, Falcone G. Abstract P412: Klotho -vS Heterozygosity is Associated With Lower Risk of Non-Traumatic Subarachnoid Hemorrhage. Stroke 2021, 52 DOI: 10.1161/str.52.suppl_1.p412.
- Exome sequencing identifies SLIT2 variants in primary CNS lymphomaKaulen LD, Erson‐Omay E, Henegariu O, Karschnia P, Huttner A, Günel M, Baehring JM. Exome sequencing identifies SLIT2 variants in primary CNS lymphoma. British Journal Of Haematology 2021, 193: 375-379. PMID: 33481259, DOI: 10.1111/bjh.17319.
- Spatially Resolved and Quantitative Analysis of the Immunological Landscape in Human Meningiomas.Yeung J, Yaghoobi V, Aung TN, Vesely MD, Zhang T, Gaule P, Gunel M, Rimm DL, Chen L. Spatially Resolved and Quantitative Analysis of the Immunological Landscape in Human Meningiomas. Journal Of Neuropathology & Experimental Neurology 2021, 80: 150-159. PMID: 33393633, DOI: 10.1093/jnen/nlaa152.
- Genetically Determined Smoking Behavior and Risk of Nontraumatic Subarachnoid HemorrhageAcosta JN, Szejko N, Both CP, Vanent K, Noche RB, Gill TM, Matouk CC, Sheth KN, Gunel M, Falcone GJ. Genetically Determined Smoking Behavior and Risk of Nontraumatic Subarachnoid Hemorrhage. Stroke 2021, 52: 582-587. PMID: 33440997, PMCID: PMC7856108, DOI: 10.1161/strokeaha.120.031622.
- Neuroinvasion of SARS-CoV-2 in human and mouse brainSong E, Zhang C, Israelow B, Lu-Culligan A, Prado AV, Skriabine S, Lu P, Weizman OE, Liu F, Dai Y, Szigeti-Buck K, Yasumoto Y, Wang G, Castaldi C, Heltke J, Ng E, Wheeler J, Alfajaro MM, Levavasseur E, Fontes B, Ravindra NG, Van Dijk D, Mane S, Gunel M, Ring A, Kazmi SAJ, Zhang K, Wilen CB, Horvath TL, Plu I, Haik S, Thomas JL, Louvi A, Farhadian SF, Huttner A, Seilhean D, Renier N, Bilguvar K, Iwasaki A. Neuroinvasion of SARS-CoV-2 in human and mouse brain. Journal Of Experimental Medicine 2021, 218: e20202135. PMID: 33433624, PMCID: PMC7808299, DOI: 10.1084/jem.20202135.
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- 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.
- Clinical and Genomic Factors Associated With Seizures in MeningiomasGupte T, Jin L, Li C, Yalcin K, Youngblood M, Miyagishima D, Gorur K, Zhao A, Fulbright R, Omay Z, Gunel M, Moliterno Gunel J. Clinical and Genomic Factors Associated With Seizures in Meningiomas. Neurosurgery 2020, 67 DOI: 10.1093/neuros/nyaa447_796.
- NCOG-50. CLINICAL AND GENOMIC FACTORS ASSOCIATED WITH SEIZURES IN MENINGIOMASGupte T, Jin L, Li C, Yalcin K, Youngblood M, Miyagishima D, Mishra K, Fulbright R, Erson-omay Z, Gunel M, Moliterno J. NCOG-50. CLINICAL AND GENOMIC FACTORS ASSOCIATED WITH SEIZURES IN MENINGIOMAS. Neuro-Oncology 2020, 22: ii140-ii140. PMCID: PMC7651386, DOI: 10.1093/neuonc/noaa215.588.
- PATH-39. ASSOCIATIONS OF GENOMIC SUBGROUP WITH RECURRENCE IN LOW-GRADE MENINGIOMASYoungblood M, Miyagishima D, Jin L, Gupte T, Li C, Duran D, Montejo J, 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 M, Amankulor N, Kalamarides M, Erson-omay Z, Gunel M, Moliterno J. PATH-39. ASSOCIATIONS OF GENOMIC SUBGROUP WITH RECURRENCE IN LOW-GRADE MENINGIOMAS. Neuro-Oncology 2020, 22: ii172-ii173. PMCID: PMC7651600, DOI: 10.1093/neuonc/noaa215.720.
- Clinical Characteristics and Outcomes for 7,995 Patients with SARS-CoV-2 Infection.McPadden J, Warner F, Young HP, Hurley NC, Pulk RA, Singh A, Durant TJ, Gong G, Desai N, Haimovich A, Taylor RA, Gunel M, Dela Cruz CS, Farhadian SF, Siner J, Villanueva M, Churchwell K, Hsiao A, Torre CJ, Velazquez EJ, Herbst RS, Iwasaki A, Ko AI, Mortazavi BJ, Krumholz HM, Schulz WL. Clinical Characteristics and Outcomes for 7,995 Patients with SARS-CoV-2 Infection. MedRxiv : The Preprint Server For Health Sciences 2020 PMID: 32743602, PMCID: PMC7386526, DOI: 10.1101/2020.07.19.20157305.
- Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalusJin SC, Dong W, Kundishora AJ, Panchagnula S, Moreno-De-Luca A, Furey CG, Allocco AA, Walker RL, Nelson-Williams C, Smith H, Dunbar A, Conine S, Lu Q, Zeng X, Sierant MC, Knight JR, Sullivan W, Duy PQ, DeSpenza T, Reeves BC, Karimy JK, Marlier A, Castaldi C, Tikhonova IR, Li B, Peña HP, Broach JR, Kabachelor EM, Ssenyonga P, Hehnly C, Ge L, Keren B, Timberlake AT, Goto J, Mangano FT, Johnston JM, Butler WE, Warf BC, Smith ER, Schiff SJ, Limbrick DD, Heuer G, Jackson EM, Iskandar BJ, Mane S, Haider S, Guclu B, Bayri Y, Sahin Y, Duncan CC, Apuzzo MLJ, DiLuna ML, Hoffman EJ, Sestan N, Ment LR, Alper SL, Bilguvar K, Geschwind DH, Günel M, Lifton RP, Kahle KT. Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus. Nature Medicine 2020, 26: 1754-1765. PMID: 33077954, PMCID: PMC7871900, DOI: 10.1038/s41591-020-1090-2.
- 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.
- Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal NeuralgiaDong W, Jin SC, Allocco A, Zeng X, Sheth AH, Panchagnula S, Castonguay A, Lorenzo LÉ, Islam B, Brindle G, Bachand K, Hu J, Sularz A, Gaillard J, Choi J, Dunbar A, Nelson-Williams C, Kiziltug E, Furey CG, Conine S, Duy PQ, Kundishora AJ, Loring E, Li B, Lu Q, Zhou G, Liu W, Li X, Sierant MC, Mane S, Castaldi C, López-Giráldez F, Knight JR, Sekula RF, Simard JM, Eskandar EN, Gottschalk C, Moliterno J, Günel M, Gerrard JL, Dib-Hajj S, Waxman SG, Barker FG, Alper SL, Chahine M, Haider S, De Koninck Y, Lifton RP, Kahle KT. Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia. IScience 2020, 23: 101552. PMID: 33083721, PMCID: PMC7554653, DOI: 10.1016/j.isci.2020.101552.
- Neuroinvasion of SARS-CoV-2 in human and mouse brain.Song E, Zhang C, Israelow B, Lu-Culligan A, Prado AV, Skriabine S, Lu P, Weizman OE, Liu F, Dai Y, Szigeti-Buck K, Yasumoto Y, Wang G, Castaldi C, Heltke J, Ng E, Wheeler J, Alfajaro MM, Levavasseur E, Fontes B, Ravindra NG, Van Dijk D, Mane S, Gunel M, Ring A, Kazmi SAJ, Zhang K, Wilen CB, Horvath TL, Plu I, Haik S, Thomas JL, Louvi A, Farhadian SF, Huttner A, Seilhean D, Renier N, Bilguvar K, Iwasaki A. Neuroinvasion of SARS-CoV-2 in human and mouse brain. BioRxiv : The Preprint Server For Biology 2020 PMID: 32935108, PMCID: PMC7491522, DOI: 10.1101/2020.06.25.169946.
- Genetically Elevated LDL Associates with Lower Risk of Intracerebral HemorrhageFalcone GJ, Kirsch E, Acosta JN, Noche RB, Leasure A, Marini S, Chung J, Selim M, Meschia JF, Brown DL, Worrall BB, Tirschwell DL, Jagiella JM, Schmidt H, Jimenez‐Conde J, Fernandez‐Cadenas I, Lindgren A, Slowik A, Gill D, Holmes M, Phuah C, Petersen NH, Matouk CN, Gunel M, Sansing L, Bennett D, Chen Z, Sun LL, Clarke R, Walters RG, Gill TM, Biffi A, Kathiresan S, Langefeld CD, Woo D, Rosand J, Sheth KN, Anderson CD, Consortium F. Genetically Elevated LDL Associates with Lower Risk of Intracerebral Hemorrhage. Annals Of Neurology 2020, 88: 56-66. PMID: 32277781, PMCID: PMC7523882, DOI: 10.1002/ana.25740.
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- Outcome Analysis Among Meningioma Genomic Subgroups Identifies Decreased Recurrence Free Survival in PI3K Activated TumorsYoungblood M, Sheth A, Zhao A, Montejo J, Duran D, Li C, Tyrtova E, Ozduman K, Miyagishima D, Boetto J, Peyre M, Omay S, Kalamarides M, Omay Z, Gunel M, Moliterno J. Outcome Analysis Among Meningioma Genomic Subgroups Identifies Decreased Recurrence Free Survival in PI3K Activated Tumors. Neurosurgery 2019, 66: 310-646. DOI: 10.1093/neuros/nyz310_646.
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- Production of 2-Hydroxyglutarate by IDH Mutant Malignancies Induces a BRCAness State That Can be Exploited By PARP Inhibitors and RadiationCorso C, Bindra R, Glazer P, Sulkowski P, Robinson N, Scanlon S, Purshouse K, Bai H, Liu Y, Sundaram R, Hegan D, Fons N, Breuer G, Song Y, Mishra-Gorur K, De Feyter H, de Graaf R, Surovtseva Y, Kachman M, Halene S, Gunel M. Production of 2-Hydroxyglutarate by IDH Mutant Malignancies Induces a BRCAness State That Can be Exploited By PARP Inhibitors and Radiation. International Journal Of Radiation Oncology • Biology • Physics 2017, 99: e68. DOI: 10.1016/j.ijrobp.2017.06.754.
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- AAV-mediated direct in vivo CRISPR screen identifies functional suppressors in glioblastomaChow RD, Guzman CD, Wang G, Schmidt F, Youngblood MW, Ye L, Errami Y, Dong MB, Martinez MA, Zhang S, Renauer P, Bilguvar K, Gunel M, Sharp PA, Zhang F, Platt RJ, Chen S. AAV-mediated direct in vivo CRISPR screen identifies functional suppressors in glioblastoma. Nature Neuroscience 2017, 20: 1329-1341. PMID: 28805815, PMCID: PMC5614841, DOI: 10.1038/nn.4620.
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- 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.
- Exome analysis of the evolutionary path of hepatocellular adenoma-carcinoma transition, vascular invasion and brain disseminationVilarinho S, Erson-Omay E, Mitchell-Richards K, Cha C, Nelson-Williams C, Harmancı AS, Yasuno K, Günel M, Taddei TH. Exome analysis of the evolutionary path of hepatocellular adenoma-carcinoma transition, vascular invasion and brain dissemination. Journal Of Hepatology 2017, 67: 186-191. PMID: 28323122, PMCID: PMC5497691, DOI: 10.1016/j.jhep.2017.03.009.
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- 2-Hydroxyglutarate produced by neomorphic IDH mutations suppresses homologous recombination and induces PARP inhibitor sensitivitySulkowski PL, Corso CD, Robinson ND, Scanlon SE, Purshouse KR, Bai H, Liu Y, Sundaram RK, Hegan DC, Fons NR, Breuer GA, Song Y, Mishra-Gorur K, De Feyter HM, de Graaf RA, Surovtseva YV, Kachman M, Halene S, Günel M, Glazer PM, Bindra RS. 2-Hydroxyglutarate produced by neomorphic IDH mutations suppresses homologous recombination and induces PARP inhibitor sensitivity. Science Translational Medicine 2017, 9 PMID: 28148839, PMCID: PMC5435119, DOI: 10.1126/scitranslmed.aal2463.
- Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processingLardelli RM, Schaffer AE, Eggens VR, Zaki MS, Grainger S, Sathe S, Van Nostrand EL, Schlachetzki Z, Rosti B, Akizu N, Scott E, Silhavy JL, Heckman LD, Rosti RO, Dikoglu E, Gregor A, Guemez-Gamboa A, Musaev D, Mande R, Widjaja A, Shaw TL, Markmiller S, Marin-Valencia I, Davies JH, de Meirleir L, Kayserili H, Altunoglu U, Freckmann ML, Warwick L, Chitayat D, Blaser S, Çağlayan AO, Bilguvar K, Per H, Fagerberg C, Christesen HT, Kibaek M, Aldinger KA, Manchester D, Matsumoto N, Muramatsu K, Saitsu H, Shiina M, Ogata K, Foulds N, Dobyns WB, Chi NC, Traver D, Spaccini L, Bova SM, Gabriel SB, Gunel M, Valente EM, Nassogne MC, Bennett EJ, Yeo GW, Baas F, Lykke-Andersen J, Gleeson JG. Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nature Genetics 2017, 49: 457-464. PMID: 28092684, PMCID: PMC5325768, DOI: 10.1038/ng.3762.
- Personalized Medicine Through Advanced GenomicsYoungblood M, Erson-Omay E, Günel M. Personalized Medicine Through Advanced Genomics. 2016, 31-48. DOI: 10.1007/978-3-319-49864-5_3.
- Digenic mutations of human OCRL paralogs in Dent’s disease type 2 associated with Chiari I malformationDuran D, Jin SC, DeSpenza T, Nelson-Williams C, Cogal AG, Abrash EW, Harris PC, Lieske JC, Shimshak SJ, Mane S, Bilguvar K, DiLuna ML, Günel M, Lifton RP, Kahle KT. Digenic mutations of human OCRL paralogs in Dent’s disease type 2 associated with Chiari I malformation. Human Genome Variation 2016, 3: 16042. PMID: 28018608, PMCID: PMC5143364, DOI: 10.1038/hgv.2016.42.
- Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum DisorderTărlungeanu DC, Deliu E, Dotter CP, Kara M, Janiesch PC, Scalise M, Galluccio M, Tesulov M, Morelli E, Sonmez FM, Bilguvar K, Ohgaki R, Kanai Y, Johansen A, Esharif S, Ben-Omran T, Topcu M, Schlessinger A, Indiveri C, Duncan KE, Caglayan AO, Gunel M, Gleeson JG, Novarino G. Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder. Cell 2016, 167: 1481-1494.e18. PMID: 27912058, PMCID: PMC5554935, DOI: 10.1016/j.cell.2016.11.013.
- Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone LissencephalyJerber J, Zaki MS, Al-Aama JY, Rosti RO, Ben-Omran T, Dikoglu E, Silhavy JL, Caglar C, Musaev D, Albrecht B, Campbell KP, Willer T, Almuriekhi M, Çağlayan A, Vajsar J, Bilgüvar K, Ogur G, Jamra R, Günel M, Gleeson JG. Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly. American Journal Of Human Genetics 2016, 99: 1181-1189. PMID: 27773428, PMCID: PMC5097947, DOI: 10.1016/j.ajhg.2016.09.007.
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- MG-112 Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1ABronicki L, Redin C, Drunat S, Piton A, Lyons M, Passemard S, Baumann C, Faivre L, Thevenon J, Rivière J, Isidor B, Gan G, Francannet C, Gunel M, Jones J, Gleeson J, Willems M, Mandel J, Stevenson R, Friez M, Aylsworth A. MG-112 Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. Journal Of Medical Genetics 2015, 52: a2. DOI: 10.1136/jmedgenet-2015-103577.6.
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- Ccm3, a gene associated with cerebral cavernous malformations, is required for neuronal migrationLouvi A, Nishimura S, Günel M. Ccm3, a gene associated with cerebral cavernous malformations, is required for neuronal migration. Journal Of Cell Science 2014, 127: e1-e1. DOI: 10.1242/jcs.152207.
- Ccm3, a gene associated with cerebral cavernous malformations, is required for neuronal migrationLouvi A, Nishimura S, Günel M. Ccm3, a gene associated with cerebral cavernous malformations, is required for neuronal migration. Development 2014, 141: 1404-1415. PMID: 24595293, PMCID: PMC3943187, DOI: 10.1242/dev.093526.
- Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative DisordersNovarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg AD, Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al-Aama JY, Abdel-Salam GMH, Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben-Omran T, Mojahedi F, Mahmoud I, Bouslam N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro M, Selim L, Shehata N, Al-Allawi N, Bindu PS, Azam M, Gunel M, Caglayan A, Bilguvar K, Tolun A, Issa MY, Schroth J, Spencer EG, Rosti RO, Akizu N, Vaux KK, Johansen A, Koh AA, Megahed H, Durr A, Brice A, Stevanin G, Gabriel SB, Ideker T, Gleeson JG. Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders. Science 2014, 343: 506-511. PMID: 24482476, PMCID: PMC4157572, DOI: 10.1126/science.1247363.
- High Risk Population Isolate Reveals Low Frequency Variants Predisposing to Intracranial AneurysmsKurki MI, Gaál EI, Kettunen J, Lappalainen T, Menelaou A, Anttila V, van 't Hof FN, Fraunberg M, Helisalmi S, Hiltunen M, Lehto H, Laakso A, Kivisaari R, Koivisto T, Ronkainen A, Rinne J, Kiemeney LA, Vermeulen SH, Kaunisto MA, Eriksson JG, Aromaa A, Perola M, Lehtimäki T, Raitakari OT, Salomaa V, Gunel M, Dermitzakis ET, Ruigrok YM, Rinkel GJ, Niemelä M, Hernesniemi J, Ripatti S, de Bakker PI, Palotie A, Jääskeläinen JE. High Risk Population Isolate Reveals Low Frequency Variants Predisposing to Intracranial Aneurysms. PLOS Genetics 2014, 10: e1004134. PMID: 24497844, PMCID: PMC3907358, DOI: 10.1371/journal.pgen.1004134.
- Mutations in CSPP1 Lead to Classical Joubert SyndromeAkizu N, Silhavy JL, Rosti RO, Scott E, Fenstermaker AG, Schroth J, Zaki MS, Sanchez H, Gupta N, Kabra M, Kara M, Ben-Omran T, Rosti B, Guemez-Gamboa A, Spencer E, Pan R, Cai N, Abdellateef M, Gabriel S, Halbritter J, Hildebrandt F, van Bokhoven H, Gunel M, Gleeson JG. Mutations in CSPP1 Lead to Classical Joubert Syndrome. American Journal Of Human Genetics 2013, 94: 80-86. PMID: 24360807, PMCID: PMC3882909, DOI: 10.1016/j.ajhg.2013.11.015.
- P238 – 1858 New mutations detected in primer microcephaly genes by whole-exome sequencingPer H, Caglayan A, Gumus H, Bilguvar K, Canpolat M, Kumandas S, Gunel M. P238 – 1858 New mutations detected in primer microcephaly genes by whole-exome sequencing. European Journal Of Paediatric Neurology 2013, 17: s118-s119. DOI: 10.1016/s1090-3798(13)70417-3.
- Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular AbnormalitiesRadmanesh F, Caglayan AO, Silhavy JL, Yilmaz C, Cantagrel V, Omar T, Rosti B, Kaymakcalan H, Gabriel S, Li M, Šestan N, Bilguvar K, Dobyns WB, Zaki MS, Gunel M, Gleeson JG. Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities. American Journal Of Human Genetics 2013, 92: 468-474. PMID: 23472759, PMCID: PMC3591846, DOI: 10.1016/j.ajhg.2013.02.005.
- Vessel Wall Magnetic Resonance Imaging Identifies the Site of Rupture in Patients With Multiple Intracranial AneurysmsProof of PrincipleMatouk CC, Mandell DM, Günel M, Bulsara KR, Malhotra A, Hebert R, Johnson MH, Mikulis DJ, Minja FJ. Vessel Wall Magnetic Resonance Imaging Identifies the Site of Rupture in Patients With Multiple Intracranial AneurysmsProof of Principle. Neurosurgery 2013, 72: 492-496. PMID: 23151622, DOI: 10.1227/neu.0b013e31827d1012.
- Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotionEmre Onat O, Gulsuner S, Bilguvar K, Nazli Basak A, Topaloglu H, Tan M, Tan U, Gunel M, Ozcelik T. Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion. European Journal Of Human Genetics 2012, 21: 281-285. PMID: 22892528, PMCID: PMC3573203, DOI: 10.1038/ejhg.2012.170.
- The Centers for Mendelian Genomics: A new large‐scale initiative to identify the genes underlying rare Mendelian conditionsBamshad MJ, Shendure JA, Valle D, Hamosh A, Lupski JR, Gibbs RA, Boerwinkle E, Lifton RP, Gerstein M, Gunel M, Mane S, Nickerson DA, Genomics O. The Centers for Mendelian Genomics: A new large‐scale initiative to identify the genes underlying rare Mendelian conditions. American Journal Of Medical Genetics Part A 2012, 158A: 1523-1525. PMID: 22628075, PMCID: PMC3702263, DOI: 10.1002/ajmg.a.35470.
- Intracranial Aneurysm Risk Locus 5q23.2 Is Associated with Elevated Systolic Blood PressureGaál EI, Salo P, Kristiansson K, Rehnström K, Kettunen J, Sarin AP, Niemelä M, Jula A, Raitakari OT, Lehtimäki T, Eriksson JG, Widen E, Günel M, Kurki M, von und zu Fraunberg M, Jääskeläinen JE, Hernesniemi J, Järvelin MR, Pouta A, , Newton-Cheh C, Salomaa V, Palotie A, Perola M. Intracranial Aneurysm Risk Locus 5q23.2 Is Associated with Elevated Systolic Blood Pressure. PLOS Genetics 2012, 8: e1002563. PMID: 22438818, PMCID: PMC3305343, DOI: 10.1371/journal.pgen.1002563.
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- Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with AutismFernandez TV, Sanders SJ, Yurkiewicz IR, Ercan-Sencicek AG, Kim YS, Fishman DO, Raubeson MJ, Song Y, Yasuno K, Ho WS, Bilguvar K, Glessner J, Chu SH, Leckman JF, King RA, Gilbert DL, Heiman GA, Tischfield JA, Hoekstra PJ, Devlin B, Hakonarson H, Mane SM, Günel M, State MW. Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism. Biological Psychiatry 2011, 71: 392-402. PMID: 22169095, PMCID: PMC3282144, DOI: 10.1016/j.biopsych.2011.09.034.
- Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindredGulsuner S, Tekinay AB, Doerschner K, Boyaci H, Bilguvar K, Unal H, Ors A, Onat OE, Atalar E, Basak AN, Topaloglu H, Kansu T, Tan M, Tan U, Gunel M, Ozcelik T. Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred. Genome Research 2011, 21: 1995-2003. PMID: 21885617, PMCID: PMC3227090, DOI: 10.1101/gr.126110.111.
- Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with AutismSanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB, Choi M, Crawford EL, Davis L, Wright NR, Dhodapkar RM, DiCola M, DiLullo NM, Fernandez TV, Fielding-Singh V, Fishman DO, Frahm S, Garagaloyan R, Goh GS, Kammela S, Klei L, Lowe JK, Lund SC, McGrew AD, Meyer KA, Moffat WJ, Murdoch JD, O'Roak BJ, Ober GT, Pottenger RS, Raubeson MJ, Song Y, Wang Q, Yaspan BL, Yu TW, Yurkiewicz IR, Beaudet AL, Cantor RM, Curland M, Grice DE, Günel M, Lifton RP, Mane SM, Martin DM, Shaw CA, Sheldon M, Tischfield JA, Walsh CA, Morrow EM, Ledbetter DH, Fombonne E, Lord C, Martin CL, Brooks AI, Sutcliffe JS, Cook EH, Geschwind D, Roeder K, Devlin B, State MW. Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism. Neuron 2011, 70: 863-885. PMID: 21658581, PMCID: PMC3939065, DOI: 10.1016/j.neuron.2011.05.002.
- Recessive LAMC3 mutations cause malformations of occipital cortical developmentBarak T, Kwan KY, Louvi A, Demirbilek V, Saygı S, Tüysüz B, Choi M, Boyacı H, Doerschner K, Zhu Y, Kaymakçalan H, Yılmaz S, Bakırcıoğlu M, Çağlayan A, Öztürk A, Yasuno K, Brunken WJ, Atalar E, Yalçınkaya C, Dinçer A, Bronen RA, Mane S, Özçelik T, Lifton RP, Šestan N, Bilgüvar K, Günel M. Recessive LAMC3 mutations cause malformations of occipital cortical development. Nature Genetics 2011, 43: 590-594. PMID: 21572413, PMCID: PMC3329933, DOI: 10.1038/ng.836.
- CCM2 expression during prenatal development and adult human neocortexTanriover G, Sozen B, Gunel M, Demir N. CCM2 expression during prenatal development and adult human neocortex. International Journal Of Developmental Neuroscience 2011, 29: 509-514. PMID: 21569831, DOI: 10.1016/j.ijdevneu.2011.04.006.
- The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex NeurogenesisBakircioglu M, Carvalho OP, Khurshid M, Cox JJ, Tuysuz B, Barak T, Yilmaz S, Caglayan O, Dincer A, Nicholas AK, Quarrell O, Springell K, Karbani G, Malik S, Gannon C, Sheridan E, Crosier M, Lisgo SN, Lindsay S, Bilguvar K, Gergely F, Gunel M, Woods CG. The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis. American Journal Of Human Genetics 2011, 88: 523-535. PMID: 21529752, PMCID: PMC3146716, DOI: 10.1016/j.ajhg.2011.03.019.
- Genome-wide association study identifies susceptibility loci for IgA nephropathyGharavi AG, Kiryluk K, Choi M, Li Y, Hou P, Xie J, Sanna-Cherchi S, Men CJ, Julian BA, Wyatt RJ, Novak J, He JC, Wang H, Lv J, Zhu L, Wang W, Wang Z, Yasuno K, Gunel M, Mane S, Umlauf S, Tikhonova I, Beerman I, Savoldi S, Magistroni R, Ghiggeri GM, Bodria M, Lugani F, Ravani P, Ponticelli C, Allegri L, Boscutti G, Frasca G, Amore A, Peruzzi L, Coppo R, Izzi C, Viola BF, Prati E, Salvadori M, Mignani R, Gesualdo L, Bertinetto F, Mesiano P, Amoroso A, Scolari F, Chen N, Zhang H, Lifton RP. Genome-wide association study identifies susceptibility loci for IgA nephropathy. Nature Genetics 2011, 43: 321-327. PMID: 21399633, PMCID: PMC3412515, DOI: 10.1038/ng.787.
- Loss of cerebral cavernous malformation 3 (Ccm3) in neuroglia leads to CCM and vascular pathologyLouvi A, Chen L, Two AM, Zhang H, Min W, Günel M. Loss of cerebral cavernous malformation 3 (Ccm3) in neuroglia leads to CCM and vascular pathology. Proceedings Of The National Academy Of Sciences Of The United States Of America 2011, 108: 3737-3742. PMID: 21321212, PMCID: PMC3048113, DOI: 10.1073/pnas.1012617108.
- Chapter 393 Genetics of Cerebral Cavernous MalformationsOzturk A, Louvi A, Günel M. Chapter 393 Genetics of Cerebral Cavernous Malformations. 2011, 4127-4133.e2. DOI: 10.1016/b978-1-4160-5316-3.00396-8.
- Long-term Angiographic and Clinical Outcomes in Completely Versus Incompletely Coiled Ruptured Intracranial Aneurysms: 912Yilmaz S, Bijlenga P, Rashid M, Collot-Teixeira S, Brocheton J, Proust C, Rotival M, Risselada R, Summers P, Blasco J, Singh J, Waterworth A, Ebeling C, Friedrich C, Frangi A, Macho J, Byrne J, Sturkenboom M, Schaller K, Cambien F, Gunel M, McGregor J. Long-term Angiographic and Clinical Outcomes in Completely Versus Incompletely Coiled Ruptured Intracranial Aneurysms: 912. Neurosurgery 2010, 67: 540-540. DOI: 10.1227/01.neu.0000386985.32689.26.
- Gene Expression Signature in Peripheral Blood Cells Detects Intracranial Aneurysm: 913Yilmaz S, Bijlenga P, Rashid M, Collot-Teixeira S, Brocheton J, Proust C, Rotival M, Risselada R, Summers P, Blasco J, Singh J, Waterworth A, Ebeling C, Friedrich C, Frangi A, Macho J, Byrne J, Sturkenboom M, Schaller K, Cambien F, Gunel M, McGregor J. Gene Expression Signature in Peripheral Blood Cells Detects Intracranial Aneurysm: 913. Neurosurgery 2010, 67: 540-540. DOI: 10.1227/01.neu.0000386986.57991.0d.
- The critical role of hemodynamics in the development of cerebral vascular disease.Nixon AM, Gunel M, Sumpio BE. The critical role of hemodynamics in the development of cerebral vascular disease. Journal Of Neurosurgery 2010, 112: 1240-53. PMID: 19943737, DOI: 10.3171/2009.10.jns09759.
- L-Histidine Decarboxylase and Tourette's SyndromeErcan-Sencicek AG, Stillman AA, Ghosh AK, Bilguvar K, O'Roak BJ, Mason CE, Abbott T, Gupta A, King RA, Pauls DL, Tischfield JA, Heiman GA, Singer HS, Gilbert DL, Hoekstra PJ, Morgan TM, Loring E, Yasuno K, Fernandez T, Sanders S, Louvi A, Cho JH, Mane S, Colangelo CM, Biederer T, Lifton RP, Gunel M, State MW. L-Histidine Decarboxylase and Tourette's Syndrome. New England Journal Of Medicine 2010, 362: 1901-1908. PMID: 20445167, PMCID: PMC2894694, DOI: 10.1056/nejmoa0907006.
- Stabilization of VEGFR2 Signaling by Cerebral Cavernous Malformation 3 Is Critical for Vascular DevelopmentHe Y, Zhang H, Yu L, Gunel M, Boggon TJ, Chen H, Min W. Stabilization of VEGFR2 Signaling by Cerebral Cavernous Malformation 3 Is Critical for Vascular Development. Science Signaling 2010, 3: ra26. PMID: 20371769, PMCID: PMC3052863, DOI: 10.1126/scisignal.2000722.
- Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophyKolb LE, Arlier Z, Yalcinkaya C, Ozturk AK, Moliterno JA, Erturk O, Bayrakli F, Korkmaz B, DiLuna ML, Yasuno K, Bilguvar K, Ozcelik T, Tuysuz B, State MW, Gunel M. Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy. Neurogenetics 2010, 11: 319-325. PMID: 20082205, DOI: 10.1007/s10048-009-0232-y.
- COL4A1 Mutation in Preterm Intraventricular HemorrhageBilguvar K, DiLuna ML, Bizzarro MJ, Bayri Y, Schneider KC, Lifton RP, Gunel M, Ment LR. COL4A1 Mutation in Preterm Intraventricular Hemorrhage. The Journal Of Pediatrics 2009, 155: 743-745. PMID: 19840616, PMCID: PMC2884156, DOI: 10.1016/j.jpeds.2009.04.014.
- The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15Bilguvar K, Ozturk AK, Bayrakli F, Guzel A, DiLuna ML, Bayri Y, Tatli M, Tekes S, Arlier Z, Yasuno K, Mason CE, Lifton RP, State MW, Gunel M. The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15. American Journal Of Medical Genetics Part A 2009, 149A: 2569-2572. PMID: 19876906, DOI: 10.1002/ajmg.a.33063.
- CCM2 and CCM3 proteins contribute to vasculogenesis and angiogenesis in human placenta.Tanriover G, Seval Y, Sati L, Gunel M, Demir N. CCM2 and CCM3 proteins contribute to vasculogenesis and angiogenesis in human placenta. Cellular And Molecular Biology 2009, 24: 1287-94. PMID: 19688696, DOI: 10.14670/hh-24.1287.
- Mutations in the Type IV Collagens, COL4A1 and COL4A2 are Associated with Intraventricular Hemorrhage in Preterm InfantsDiLuna M, Bilguvar K, Louvi A, Bizzarro M, Bayrakli F, Bayri Y, Bydon M, Schneider K, Duncan C, State M, Lifton R, Ment L, Gunel M. Mutations in the Type IV Collagens, COL4A1 and COL4A2 are Associated with Intraventricular Hemorrhage in Preterm Infants. Neurosurgery 2009, 65: 419. DOI: 10.1227/01.neu.0000358727.92507.ea.
- Mutations in the Type IV Collagens, COL4A1 and COL4A2 are Associated with Intraventricular Hemorrhage in Preterm Infants: 956.DiLuna ML, Bilguvar K, Louvi A, Bizzarro M, Bayrakli F, Bayri Y, Bydon M, Schneider K, Duncan CC, State M, Lifton RP, Ment LR, Gunel M. Mutations in the Type IV Collagens, COL4A1 and COL4A2 are Associated with Intraventricular Hemorrhage in Preterm Infants: 956. Neurosurgery 2009, 65: 419. PMID: 28173201, DOI: 10.1227/01.neu.0000358727.92507.ea.
- PDCD10, the gene mutated in cerebral cavernous malformation 3, is expressed in the neurovascular unit.Tanriover G, Boylan AJ, Diluna ML, Pricola KL, Louvi A, Gunel M. PDCD10, the gene mutated in cerebral cavernous malformation 3, is expressed in the neurovascular unit. Neurosurgery 2008, 62: 930-8; discussion 938. PMID: 18496199, DOI: 10.1227/01.neu.0000318179.02912.ca.
- Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish populationTüysüz B, Bayrakli F, DiLuna ML, Bilguvar K, Bayri Y, Yalcinkaya C, Bursali A, Ozdamar E, Korkmaz B, Mason CE, Ozturk AK, Lifton RP, State MW, Gunel M. Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population. Neurogenetics 2008, 9: 119-125. PMID: 18322713, DOI: 10.1007/s10048-008-0121-9.
- Molecular Cytogenetic Analysis and Resequencing of Contactin Associated Protein-Like 2 in Autism Spectrum DisordersBakkaloglu B, O'Roak BJ, Louvi A, Gupta AR, Abelson JF, Morgan TM, Chawarska K, Klin A, Ercan-Sencicek AG, Stillman AA, Tanriover G, Abrahams BS, Duvall JA, Robbins EM, Geschwind DH, Biederer T, Gunel M, Lifton RP, State MW. Molecular Cytogenetic Analysis and Resequencing of Contactin Associated Protein-Like 2 in Autism Spectrum Disorders. American Journal Of Human Genetics 2008, 82: 165-173. PMID: 18179895, PMCID: PMC2253974, DOI: 10.1016/j.ajhg.2007.09.017.
- A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly. Laboratory investigation.Bilguvar K, Bydon M, Bayrakli F, Ercan-Sencicek AG, Bayri Y, Mason C, DiLuna ML, Seashore M, Bronen R, Lifton RP, State M, Gunel M. A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly. Laboratory investigation. Journal Of Neurosurgery 2007, 107: 495-9. PMID: 18154020, DOI: 10.3171/ped-07/12/495.
- Complications from cervical intra-arterial heroin injectionDiLuna ML, Bydon M, Gunel M, Johnson MH. Complications from cervical intra-arterial heroin injection. Journal Of Neurology Neurosurgery & Psychiatry 2007, 78: 1198. PMID: 17940170, PMCID: PMC2117615, DOI: 10.1136/jnnp.2007.118752.
- Rapid identification of disease‐causing mutations using copy number analysis within linkage intervalsBayrakli F, Bilguvar K, Mason CE, DiLuna ML, Bayri Y, Gungor L, Terzi M, Mane SM, Lifton RP, State MW, Gunel M. Rapid identification of disease‐causing mutations using copy number analysis within linkage intervals. Human Mutation 2007, 28: 1236-1240. PMID: 17676595, DOI: 10.1002/humu.20592.
- Linkage and Copy Number Variation Analysis of Large Families and Sibling Pairs Demonstrates Locus Heterogeneity for Familial Intracranial AneurysmsBilguvar K, Bayrakli F, Bayri Y, Ozturk A, DiLuna M, Bydon M, Gunel M. Linkage and Copy Number Variation Analysis of Large Families and Sibling Pairs Demonstrates Locus Heterogeneity for Familial Intracranial Aneurysms. Neurosurgery 2007, 61: 198. DOI: 10.1227/01.neu.0000279890.51914.ec.
- Apparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cystsGuzel A, Tatli M, Bilguvar K, DiLuna ML, Bakkaloglu B, Ozturk AK, Bayrakli F, Gunel M. Apparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cysts. American Journal Of Medical Genetics Part A 2007, 143A: 672-677. PMID: 17343267, DOI: 10.1002/ajmg.a.31640.
- Cerebrovascular disease associated with Aarskog-Scott syndromeDiLuna ML, Amankulor NM, Johnson MH, Gunel M. Cerebrovascular disease associated with Aarskog-Scott syndrome. Neuroradiology 2007, 49: 457-461. PMID: 17294235, DOI: 10.1007/s00234-007-0209-1.
- GENETICS OF INTRACRANIAL ANEURYSMSNahed BV, Bydon M, Ozturk AK, Bilguvar K, Bayrakli F, Gunel M. GENETICS OF INTRACRANIAL ANEURYSMS. Neurosurgery 2007, 60: 213-226. PMID: 17290171, DOI: 10.1227/01.neu.0000249270.18698.bb.
- Response to Letter by Stahl and FelborBilguvar K, Ozturk A, Gunel M, Guclu B. Response to Letter by Stahl and Felbor. Stroke 2006, 37: 2215-2216. DOI: 10.1161/01.str.0000237183.62327.c5.
- Molecular Genetic Analysis of Two Large Kindreds With Intracranial Aneurysms Demonstrates Linkage to 11q24-25 and 14q23-31Ozturk AK, Nahed BV, Bydon M, Bilguvar K, Goksu E, Bademci G, Guclu B, Johnson MH, Amar A, Lifton RP, Gunel M. Molecular Genetic Analysis of Two Large Kindreds With Intracranial Aneurysms Demonstrates Linkage to 11q24-25 and 14q23-31. Stroke 2006, 37: 1021-1027. PMID: 16497978, DOI: 10.1161/01.str.0000206153.92675.b9.
- CCM2 Expression Parallels That of CCM1Seker A, Pricola KL, Guclu B, Ozturk AK, Louvi A, Gunel M. CCM2 Expression Parallels That of CCM1. Stroke 2005, 37: 518-523. PMID: 16373645, DOI: 10.1161/01.str.0000198835.49387.25.
- Expression of Structural Proteins and Angiogenic Factors in Normal Arterial and Unruptured and Ruptured Aneurysm WallsKılıc T, Sohrabifar M, Kurtkaya Ö, Yildirim Ö, Elmaci I, Günel M, Pamir MN. Expression of Structural Proteins and Angiogenic Factors in Normal Arterial and Unruptured and Ruptured Aneurysm Walls. Neurosurgery 2005, 57: 997-1007. PMID: 16284569, DOI: 10.1227/01.neu.0000180812.77621.6c.
- Mutations in Apoptosis-related Gene, PDCD10, Cause Cerebral Cavernous Malformation 3Guclu B, Ozturk AK, Pricola KL, Bilguvar K, Shin D, O’Roak B, Gunel M. Mutations in Apoptosis-related Gene, PDCD10, Cause Cerebral Cavernous Malformation 3. Neurosurgery 2005, 57: 1008-1013. PMID: 16284570, DOI: 10.1227/01.neu.0000180811.56157.e1.
- Cerebral Venous Malformations Have Distinct Genetic Origin From Cerebral Cavernous MalformationsGuclu B, Ozturk AK, Pricola KL, Seker A, Ozek M, Gunel M. Cerebral Venous Malformations Have Distinct Genetic Origin From Cerebral Cavernous Malformations. Stroke 2005, 36: 2479-2480. PMID: 16239636, DOI: 10.1161/01.str.0000183616.99139.d3.
- Sequence Variants in SLITRK1 Are Associated with Tourette's SyndromeAbelson JF, Kwan KY, O'Roak BJ, Baek DY, Stillman AA, Morgan TM, Mathews CA, Pauls DL, Rašin M, Gunel M, Davis NR, Ercan-Sencicek AG, Guez DH, Spertus JA, Leckman JF, Dure LS, Kurlan R, Singer HS, Gilbert DL, Farhi A, Louvi A, Lifton RP, Šestan N, State MW. Sequence Variants in SLITRK1 Are Associated with Tourette's Syndrome. Science 2005, 310: 317-320. PMID: 16224024, DOI: 10.1126/science.1116502.
- Hypertension, Age, and Location Predict Rupture of Small Intracranial AneurysmsNahed B, DiLuna M, Morgan T, Ocal E, Hawkins A, Ozduman K, Kahle K, Chamberlain A, Amar A, Gunel M. Hypertension, Age, and Location Predict Rupture of Small Intracranial Aneurysms. Neurosurgery 2005, 57: 676-683. DOI: 10.1093/neurosurgery/57.4.676.
- Hypertension, age, and location predict rupture of small intracranial aneurysms.Nahed BV, DiLuna ML, Morgan T, Ocal E, Hawkins AA, Ozduman K, Kahle KT, Chamberlain A, Amar AP, Gunel M. Hypertension, age, and location predict rupture of small intracranial aneurysms. Neurosurgery 2005, 57: 676-83; discussion 676-83. PMID: 16239879, DOI: 10.1227/01.neu.0000175549.96530.59.
- Tumor necrosis factor alpha is a key modulator of inflammation in cerebral aneurysms.Jayaraman T, Berenstein V, Li X, Mayer J, Silane M, Shin YS, Niimi Y, Kiliç T, Gunel M, Berenstein A. Tumor necrosis factor alpha is a key modulator of inflammation in cerebral aneurysms. Neurosurgery 2005, 57: 558-64; discussion 558-64. PMID: 16145536, DOI: 10.1227/01.neu.0000170439.89041.d6.
- Mapping a Mendelian Form of Intracranial Aneurysm to 1p34.3-p36.13Nahed BV, Seker A, Guclu B, Ozturk AK, Finberg K, Hawkins AA, DiLuna ML, State M, Lifton RP, Gunel M. Mapping a Mendelian Form of Intracranial Aneurysm to 1p34.3-p36.13. American Journal Of Human Genetics 2004, 76: 172-179. PMID: 15540160, PMCID: PMC1196421, DOI: 10.1086/426953.
- 765 Genome-wide Linkage Analysis of Intracranial AneurysmsNahed B, Hawkins A, Diluna M, Seker A, Guclu B, Chamberlain A, State M, Gunel M. 765 Genome-wide Linkage Analysis of Intracranial Aneurysms. Neurosurgery 2004, 55: 474. DOI: 10.1097/00006123-200408000-00101.
- 765 Genome-wide Linkage Analysis of Intracranial AneurysmsNahed B, Hawkins A, Diluna M, Seker A, Guclu B, Chamberlain A, State M, Gunel M. 765 Genome-wide Linkage Analysis of Intracranial Aneurysms. Neurosurgery 2004, 55: 474-474. DOI: 10.1227/00006123-200408000-00101.
- Krev1 interaction trapped-1/cerebral cavernous malformation-1 protein expression during early angiogenesis.Guzeloglu-Kayisli O, Kayisli UA, Amankulor NM, Voorhees JR, Gokce O, DiLuna ML, Laurans MS, Luleci G, Gunel M. Krev1 interaction trapped-1/cerebral cavernous malformation-1 protein expression during early angiogenesis. Journal Of Neurosurgery 2004, 100: 481-7. PMID: 15287459, DOI: 10.3171/ped.2004.100.5.0481.
- KRIT1/Cerebral Cavernous Malformation 1 Protein Localizes to Vascular Endothelium, Astrocytes, and Pyramidal Cells of the Adult Human Cerebral CortexGuzeloglu-Kayisli O, Amankulor NM, Voorhees J, Luleci G, Lifton RP, Gunel M. KRIT1/Cerebral Cavernous Malformation 1 Protein Localizes to Vascular Endothelium, Astrocytes, and Pyramidal Cells of the Adult Human Cerebral Cortex. Neurosurgery 2004, 54: 943-949. PMID: 15046662, DOI: 10.1227/01.neu.0000114512.59624.a5.
- The AHNAKs are a class of giant propeller-like proteins that associate with calcium channel proteins of cardiomyocytes and other cellsKomuro A, Masuda Y, Kobayashi K, Babbitt R, Gunel M, Flavell RA, Marchesi VT. The AHNAKs are a class of giant propeller-like proteins that associate with calcium channel proteins of cardiomyocytes and other cells. Proceedings Of The National Academy Of Sciences Of The United States Of America 2004, 101: 4053-4058. PMID: 15007166, PMCID: PMC384694, DOI: 10.1073/pnas.0308619101.
- Clinicopathological Review: Giant Intraventricular Cavernous MalformationAnderson RC, Connolly ES, Ozduman K, Laurans MS, Gunel M, Khandji A, Faust PL, Sisti MB. Clinicopathological Review: Giant Intraventricular Cavernous Malformation. Neurosurgery 2003, 53: 374-379. PMID: 12925254, DOI: 10.1227/01.neu.0000073533.52727.e4.
- Mutational analysis of 206 families with cavernous malformations.Laurans MS, DiLuna ML, Shin D, Niazi F, Voorhees JR, Nelson-Williams C, Johnson EW, Siegel AM, Steinberg GK, Berg MJ, Scott RM, Tedeschi G, Enevoldson TP, Anson J, Rouleau GA, Ogilvy C, Awad IA, Lifton RP, Gunel M. Mutational analysis of 206 families with cavernous malformations. Journal Of Neurosurgery 2003, 99: 38-43. PMID: 12854741, DOI: 10.3171/jns.2003.99.1.0038.
- Epigenetic abnormalities associated with a chromosome 18(q21-q22) inversion and a Gilles de la Tourette syndrome phenotypeState MW, Greally JM, Cuker A, Bowers PN, Henegariu O, Morgan TM, Gunel M, DiLuna M, King RA, Nelson C, Donovan A, Anderson GM, Leckman JF, Hawkins T, Pauls DL, Lifton RP, Ward DC. Epigenetic abnormalities associated with a chromosome 18(q21-q22) inversion and a Gilles de la Tourette syndrome phenotype. Proceedings Of The National Academy Of Sciences Of The United States Of America 2003, 100: 4684-4689. PMID: 12682296, PMCID: PMC153616, DOI: 10.1073/pnas.0730775100.
- KRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated proteinGunel M, Laurans MS, Shin D, DiLuna ML, Voorhees J, Choate K, Nelson-Williams C, Lifton RP. KRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein. Proceedings Of The National Academy Of Sciences Of The United States Of America 2002, 99: 10677-10682. PMID: 12140362, PMCID: PMC125011, DOI: 10.1073/pnas.122354499.
- Human Hypertension Caused by Mutations in WNK KinasesWilson F, Disse-Nicodème S, Choate K, Ishikawa K, Nelson-Williams C, Desitter I, Gunel M, Milford D, Lipkin G, Achard J, Feely M, Dussol B, Berland Y, Unwin R, Mayan H, Simon D, Farfel Z, Jeunemaitre X, Lifton R. Human Hypertension Caused by Mutations in WNK Kinases. Science 2001, 293: 1107-1112. PMID: 11498583, DOI: 10.1126/science.1062844.
- Intraoperative endovascular treatment as an adjunct to microsurgical clipping of paraclinoid aneurysms.Ng PY, Huddle D, Gunel M, Awad IA. Intraoperative endovascular treatment as an adjunct to microsurgical clipping of paraclinoid aneurysms. Journal Of Neurosurgery 2000, 93: 554-60. PMID: 11014532, DOI: 10.3171/jns.2000.93.4.0554.
- Carotid Endarterectomy Prevention Strategies and Complications ManagementGunel M, Awad I. Carotid Endarterectomy Prevention Strategies and Complications Management. Neurosurgery Clinics Of North America 2000, 11: 351-364. PMID: 10733850, DOI: 10.1016/s1042-3680(18)30137-2.
- Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15–13 and 3q25.2–27Craig H, Günel M, Cepeda O, Johnson E, Ptacek L, Steinberg G, Ogilvy C, Berg M, Crawford S, Scott R, Steichen-Gersdorf E, Sabroe R, Kennedy C, Mettler G, Beis M, Fryer A, Awad I, Lifton R. Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15–13 and 3q25.2–27. Human Molecular Genetics 1998, 7: 1851-1858. PMID: 9811928, DOI: 10.1093/hmg/7.12.1851.
- Molecular Biology of Cerebrovascular DiseasesGunel M, Awad I, Lifton R. Molecular Biology of Cerebrovascular Diseases. 1998, 163-173. DOI: 10.1007/978-1-4613-9350-4_15.
- Counting strokesGünel M, Lifton R. Counting strokes. Nature Genetics 1996, 13: 384-385. PMID: 8696326, DOI: 10.1038/ng0896-384.
- Genetic Heterogeneity of Inherited Cerebral Cavernous MalformationGünel M, Awad I, Finberg K, Steinberg G, Craig H, Cepeda O, Carol N, Lifton R. Genetic Heterogeneity of Inherited Cerebral Cavernous Malformation. Neurosurgery 1996, 38: 1265-1271. DOI: 10.1097/00006123-199606000-00059.
- Genetic heterogeneity of inherited cerebral cavernous malformation.Günel M, Awad IA, Finberg K, Steinberg GK, Craig HD, Cepeda O, Nelson-Williams C, Lifton RP. Genetic heterogeneity of inherited cerebral cavernous malformation. Neurosurgery 1996, 38: 1265-71. PMID: 8727164, DOI: 10.1097/00006123-199606000-00059.
- Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21.Günel M, Awad IA, Anson J, Lifton RP. Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21. Proceedings Of The National Academy Of Sciences Of The United States Of America 1995, 92: 6620-6624. PMID: 7604043, PMCID: PMC41570, DOI: 10.1073/pnas.92.14.6620.
- Vasoactive intestinal polypeptide and its receptor changes in human temporal lobe epilepsyde Lanerolle NC, Gunel M, Sundaresan S, Shen MY, Brines ML, Spencer DD. Vasoactive intestinal polypeptide and its receptor changes in human temporal lobe epilepsy. Brain Research 1995, 686: 182-193. PMID: 7583284, DOI: 10.1016/0006-8993(95)00365-w.
- Management of low-grade gliomas: radiation therapy at time of recurrence.Piepmeier JM, Gunel M. Management of low-grade gliomas: radiation therapy at time of recurrence. Clinical Neurosurgery 1995, 42: 495-507. PMID: 8846614.