Murat Gunel, MD, FACS, FAHA, FAANS

Research Interests

Aneurysm; Brain; Genetics; Molecular Biology; Neurobiology; Neurosurgery; Hemangioma, Cavernous, Central Nervous System

Research Organizations

Neurosurgery: Gunel Lab

Brain Tumor Research

Interdepartmental Neuroscience Program

Vascular Biology and Therapeutics Program

Yale Cancer Center: Genomics, Genetics, and Epigenetics

Office of Cooperative Research

Research Summary

Within the Neurogenetics program, 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

Full List of PubMed Publications

• Rad A, Altunoglu U, Miller R, Maroofian R, James KN, Çağlayan AO, Najafi M, Stanley V, Boustany RM, Yeşil G, Sahebzamani A, Ercan-Sencicek G, Saeidi K, Wu K, Bauer P, Bakey Z, Gleeson JG, Hauser N, Gunel M, Kayserili H, Schmidts M: MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome). J Med Genet. 2019 May; 2018 Nov 28. PMID: 30487245
• Posey JE, O'Donnell-Luria AH, Chong JX, Harel T, Jhangiani SN, Coban Akdemir ZH, Buyske S, Pehlivan D, Carvalho CMB, Baxter S, Sobreira N, Liu P, Wu N, Rosenfeld JA, Kumar S, Avramopoulos D, White JJ, Doheny KF, Witmer PD, Boehm C, Sutton VR, Muzny DM, Boerwinkle E, Günel M, Nickerson DA, Mane S, MacArthur DG, Gibbs RA, Hamosh A, Lifton RP, Matise TC, Rehm HL, Gerstein M, Bamshad MJ, Valle D, Lupski JR, Centers for Mendelian Genomics.: Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med. 2019 Apr; 2019 Jan 18. PMID: 30655598
• Duran D, Zeng X, Jin SC, Choi J, Nelson-Williams C, Yatsula B, Gaillard J, Furey CG, Lu Q, Timberlake AT, Dong W, Sorscher MA, Loring E, Klein J, Allocco A, Hunt A, Conine S, Karimy JK, Youngblood MW, Zhang J, DiLuna ML, Matouk CC, Mane S, Tikhonova IR, Castaldi C, López-Giráldez F, Knight J, Haider S, Soban M, Alper SL, Komiyama M, Ducruet AF, Zabramski JM, Dardik A, Walcott BP, Stapleton CJ, Aagaard-Kienitz B, Rodesch G, Jackson E, Smith ER, Orbach DB, Berenstein A, Bilguvar K, Vikkula M, Gunel M, Lifton RP, Kahle KT: Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation. Neuron. 2019 Feb 6; 2018 Dec 18. PMID: 30578106
• Guemez-Gamboa A, Çağlayan AO, Stanley V, Gregor A, Zaki MS, Saleem SN, Musaev D, McEvoy-Venneri J, Belandres D, Akizu N, Silhavy JL, Schroth J, Rosti RO, Copeland B, Lewis SM, Fang R, Issa MY, Per H, Gumus H, Bayram AK, Kumandas S, Akgumus GT, Erson-Omay EZ, Yasuno K, Bilguvar K, Heimer G, Pillar N, Shomron N, Weissglas-Volkov D, Porat Y, Einhorn Y, Gabriel S, Ben-Zeev B, Gunel M, Gleeson JG: Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome. Ann Neurol. 2018 Nov; 2018 Oct 4. PMID: 30178464
• Furey CG, Zeng X, Dong W, Jin SC, Choi J, Timberlake AT, Dunbar AM, Allocco AA, Günel M, Lifton RP, Kahle KT: Human Genetics and Molecular Mechanisms of Congenital Hydrocephalus. World Neurosurg. 2018 Nov; 2018 Sep 8. PMID: 30205212
• Furey C, Antwi P, Duran D, Timberlake AT, Nelson-Williams C, Matouk CC, DiLuna ML, Günel M, Kahle KT: 9p24 triplication in syndromic hydrocephalus with diffuse villous hyperplasia of the choroid plexus. Cold Spring Harb Mol Case Stud. 2018 Oct; 2018 Oct 1. PMID: 29895553
• Fomchenko 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. Cold Spring Harb Mol Case Stud. 2018 Aug; 2018 Aug 1. PMID: 29903892
• Schaffer AE, Breuss MW, Caglayan AO, Al-Sanaa N, Al-Abdulwahed HY, Kaymakçalan H, Yılmaz C, Zaki MS, Rosti RO, Copeland B, Baek ST, Musaev D, Scott EC, Ben-Omran T, Kariminejad A, Kayserili H, Mojahedi F, Kara M, Cai N, Silhavy JL, Elsharif S, Fenercioglu E, Barshop BA, Kara B, Wang R, Stanley V, James KN, Nachnani R, Kalur A, Megahed H, Incecik F, Danda S, Alanay Y, Faqeih E, Melikishvili G, Mansour L, Miller I, Sukhudyan B, Chelly J, Dobyns WB, Bilguvar K, Jamra RA, Gunel M, Gleeson JG: Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration. Nat Genet. 2018 Aug; 2018 Jul 16. PMID: 30013181
• Furey CG, Choi J, Jin SC, Zeng X, Timberlake AT, Nelson-Williams C, Mansuri MS, Lu Q, Duran D, Panchagnula S, Allocco A, Karimy JK, Khanna A, Gaillard JR, DeSpenza T, Antwi P, Loring E, Butler WE, Smith ER, Warf BC, Strahle JM, Limbrick DD, Storm PB, Heuer G, Jackson EM, Iskandar BJ, Johnston JM, Tikhonova I, Castaldi C, López-Giráldez F, Bjornson RD, Knight JR, Bilguvar K, Mane S, Alper SL, Haider S, Guclu B, Bayri Y, Sahin Y, Apuzzo MLJ, Duncan CC, DiLuna ML, Günel M, Lifton RP, Kahle KT: De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus. Neuron. 2018 Jul 25; 2018 Jul 5. PMID: 29983323
• 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. J Neurosurg. 2018 Apr; 2017 Jun 16. PMID: 28621624
• Duran D, Karschnia P, Gaillard JR, Karimy JK, Youngblood MW, DiLuna ML, Matouk CC, Aagaard-Kienitz B, Smith ER, Orbach DB, Rodesch G, Berenstein A, Gunel M, Kahle KT: Human genetics and molecular mechanisms of vein of Galen malformation. J Neurosurg Pediatr. 2018 Apr; 2018 Jan 19. PMID: 29350590
• Yilmaz S, Uludağ Alkaya D, Kasapçopur Ö, Barut K, Akdemir ES, Celen C, Youngblood MW, Yasuno K, Bilguvar K, Günel M, Tüysüz B: Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome. Mol Genet Genomic Med. 2018 Mar; 2018 Feb 4. PMID: 29397575
• Kaymakcalan H, Yarman Y, Goc N, Toy F, Meral C, Ercan-Sencicek AG, Gunel M: Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia. Am J Med Genet A. 2018 Feb; 2017 Dec 11. PMID: 29226631
• Chow 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. Nat Neurosci. 2017 Oct; 2017 Aug 14. PMID: 28805815
• Goods BA, Hernandez AL, Lowther DE, Lucca LE, Lerner BA, Gunel M, Raddassi K, Coric V, Hafler DA, Love JC: Functional differences between PD-1+ and PD-1- CD4+ effector T cells in healthy donors and patients with glioblastoma multiforme. PLoS One. 2017; 2017 Sep 7. PMID: 28880903
• Çağlayan AO, Sezer RG, Kaymakçalan H, Ulgen E, Yavuz T, Baranoski JF, Bozaykut A, Harmanci AS, Yalcin Y, Youngblood MW, Yasuno K, Bilgüvar K, Gunel M: ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features. Cold Spring Harb Mol Case Stud. 2017 Sep; 2017 Sep 1. PMID: 28630369
• Karimy JK, Zhang J, Kurland DB, Theriault BC, Duran D, Stokum JA, Furey CG, Zhou X, Mansuri MS, Montejo J, Vera A, DiLuna ML, Delpire E, Alper SL, Gunel M, Gerzanich V, Medzhitov R, Simard JM, Kahle KT: Inflammation-dependent cerebrospinal fluid hypersecretion by the choroid plexus epithelium in posthemorrhagic hydrocephalus. Nat Med. 2017 Aug; 2017 Jul 10. PMID: 28692063
• Vilarinho S, Erson-Omay EZ, 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. J Hepatol. 2017 Jul; 2017 Mar 18. PMID: 28323122
• Yılmaz B, Toktaş ZO, Akakın A, Işık S, Bilguvar K, Kılıç T, Günel M: Familial occurrence of brain arteriovenous malformation: a novel ACVRL1 mutation detected by whole exome sequencing. J Neurosurg. 2017 Jun; 2016 Sep 9. PMID: 27611203
• Nishimura 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. Proc Natl Acad Sci U S A. 2017 May 23; 2017 May 12. PMID: 28500274
• Sgourdou P, Mishra-Gorur K, Saotome I, Henagariu O, Tuysuz B, Campos C, Ishigame K, Giannikou K, Quon JL, Sestan N, Caglayan AO, Gunel M, Louvi A: Disruptions in asymmetric centrosome inheritance and WDR62-Aurora kinase B interactions in primary microcephaly. Sci Rep. 2017 Mar 8; 2017 Mar 8. PMID: 28272472
• Lardelli 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. Nat Genet. 2017 Mar; 2017 Jan 16. PMID: 28092684
• Harmancı 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. Nat Commun. 2017 Feb 14; 2017 Feb 14. PMID: 28195122
• Erson-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 Med. 2017 Feb 2; 2017 Feb 2. PMID: 28153049
• Sulkowski 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. Sci Transl Med. 2017 Feb 1. PMID: 28148839
• Duran D, Jin SC, DeSpenza T Jr, 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. Hum Genome Var. 2016; 2016 Dec 8. PMID: 28018608
• Tărlungeanu 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 Dec 1. PMID: 27912058
• Jerber 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 AO, Vajsar J, Bilgüvar K, Ogur G, Abou Jamra R, Günel M, Gleeson JG: Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly. Am J Hum Genet. 2016 Nov 3; 2016 Oct 20. PMID: 27773428
• Vilarinho S, Sari S, Mazzacuva F, Bilgüvar K, Esendagli-Yilmaz G, Jain D, Akyol G, Dalgiç B, Günel M, Clayton PT, Lifton RP: ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment. Proc Natl Acad Sci U S A. 2016 Oct 4; 2016 Sep 19. PMID: 27647924
• Clark 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. Nat Genet. 2016 Oct; 2016 Aug 22. PMID: 27548314
• Li 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. Am J Hum Genet. 2016 Aug 4; 2016 Jul 21. PMID: 27453578
• Oktay Y, Ülgen E, Can Ö, Akyerli CB, Yüksel Ş, Erdemgil Y, Durası IM, 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. Sci Rep. 2016 Jun 10; 2016 Jun 10. PMID: 27282637
• Vilarinho S, Sari S, Yilmaz G, Stiegler AL, Boggon TJ, Jain D, Akyol G, Dalgic B, Günel M, Lifton RP: Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension. Hepatology. 2016 Jun; 2016 Mar 31. PMID: 26874653
• Shi C, Shenkar R, Zeineddine HA, Girard R, Fam MD, Austin C, Moore T, Lightle R, Zhang L, Wu M, Cao Y, Gunel M, Louvi A, Rorrer A, Gallione C, Marchuk DA, Awad IA: B-Cell Depletion Reduces the Maturation of Cerebral Cavernous Malformations in Murine Models. J Neuroimmune Pharmacol. 2016 Jun; 2016 Apr 16. PMID: 27086141
• Tüysüz B, Ercan-Sencicek AG, Canpolat N, Koparır A, Yılmaz S, Kılıçaslan I, Gülez B, Bilguvar K, Günel M: Renal involvement in patients with mucolipidosis IIIalpha/beta: Causal relation or co-occurrence? Am J Med Genet A. 2016 May; 2016 Jan 8. PMID: 26749367
• Çağlayan 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. J Hum Genet. 2016 May; 2016 Jan 7. PMID: 26740239
• Lowther DE, Goods BA, Lucca LE, Lerner BA, Raddassi K, van Dijk D, Hernandez AL, Duan X, Gunel M, Coric V, Krishnaswamy S, Love JC, Hafler DA: PD-1 marks dysfunctional regulatory T cells in malignant gliomas. JCI Insight. 2016 Apr 21. PMID: 27182555
• Bai 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. Nat Genet. 2016 Jan; 2015 Nov 30. PMID: 26618343
• Reshetnyak AV, Murray PB, Shi X, Mo ES, Mohanty J, Tome F, Bai H, Gunel M, Lax I, Schlessinger J: Augmentor α and β (FAM150) are ligands of the receptor tyrosine kinases ALK and LTK: Hierarchy and specificity of ligand-receptor interactions. Proc Natl Acad Sci U S A. 2015 Dec 29; 2015 Nov 16. PMID: 26630010
• Bronicki LM, Redin C, Drunat S, Piton A, Lyons M, Passemard S, Baumann C, Faivre L, Thevenon J, Rivière JB, Isidor B, Gan G, Francannet C, Willems M, Gunel M, Jones JR, Gleeson JG, Mandel JL, Stevenson RE, Friez MJ, Aylsworth AS: Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. Eur J Hum Genet. 2015 Nov; 2015 Apr 29. PMID: 25920557
• Erson-Omay EZ, Çağlayan AO, Schultz N, Weinhold N, Omay SB, Özduman K, Köksal Y, Li J, Serin Harmancı A, Clark V, Carrión-Grant G, Baranoski J, Çağlar C, Barak T, Coşkun S, Baran B, Köse D, Sun J, Bakırcıoğlu M, Moliterno 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 Oncol. 2015 Oct; 2015 Mar 3. PMID: 25740784
• Juhlin CC, Stenman A, Haglund F, Clark VE, Brown TC, Baranoski J, Bilguvar K, Goh G, Welander J, Svahn F, Rubinstein JC, Caramuta S, Yasuno K, Günel M, Bäckdahl M, Gimm O, Söderkvist P, Prasad ML, Korah R, Lifton RP, Carling T: Whole-exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated gene. Genes Chromosomes Cancer. 2015 Sep; 2015 May 29. PMID: 26032282
• Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T, Coban Akdemir ZH, Doheny K, Scott AF, Avramopoulos D, Chakravarti A, Hoover-Fong J, Mathews D, Witmer PD, Ling H, Hetrick K, Watkins L, Patterson KE, Reinier F, Blue E, Muzny D, Kircher M, Bilguvar K, López-Giráldez F, Sutton VR, Tabor HK, Leal SM, Gunel M, Mane S, Gibbs RA, Boerwinkle E, Hamosh A, Shendure J, Lupski JR, Lifton RP, Valle D, Nickerson DA, Centers for Mendelian Genomics., Bamshad MJ: The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. Am J Hum Genet. 2015 Aug 6; 2015 Jul 9. PMID: 26166479
• He P, Grotzke JE, Ng BG, Gunel M, Jafar-Nejad H, Cresswell P, Enns GM, Freeze HH: A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts. Glycobiology. 2015 Aug; 2015 Apr 21. PMID: 25900930
• Guemez-Gamboa A, Nguyen LN, Yang H, Zaki MS, Kara M, Ben-Omran T, Akizu N, Rosti RO, Rosti B, Scott E, Schroth J, Copeland B, Vaux KK, Cazenave-Gassiot A, Quek DQ, Wong BH, Tan BC, Wenk MR, Gunel M, Gabriel S, Chi NC, Silver DL, Gleeson JG: Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome. Nat Genet. 2015 Jul; 2015 May 25. PMID: 26005868
• Bulsara KR, Günel M, Amin-Hanjani S, Chen PR, Connolly ES, Friedlander RM: Results of a national cerebrovascular neurosurgery survey on the management of cerebral vasospasm/delayed cerebral ischemia. J Neurointerv Surg. 2015 Jun; 2014 May 7. PMID: 24811742
• Akizu N, Cantagrel V, Zaki MS, Al-Gazali L, Wang X, Rosti RO, Dikoglu E, Gelot AB, Rosti B, Vaux KK, Scott EM, Silhavy JL, Schroth J, Copeland B, Schaffer AE, Gordts PL, Esko JD, Buschman MD, Field SJ, Napolitano G, Abdel-Salam GM, Ozgul RK, Sagıroglu MS, Azam M, Ismail S, Aglan M, Selim L, Mahmoud IG, Abdel-Hadi S, Badawy AE, Sadek AA, Mojahedi F, Kayserili H, Masri A, Bastaki L, Temtamy S, Müller U, Desguerre I, Casanova JL, Dursun A, Gunel M, Gabriel SB, de Lonlay P, Gleeson JG: Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. Nat Genet. 2015 May; 2015 Apr 6. PMID: 25848753
• Nishimura S, Bilgüvar K, Ishigame K, Sestan N, Günel M, Louvi A: Functional synergy between cholecystokinin receptors CCKAR and CCKBR in mammalian brain development. PLoS One. 2015; 2015 Apr 15. PMID: 25875176
• Özoğuz A, Uyan Ö, Birdal G, Iskender C, Kartal E, Lahut S, Ömür Ö, Agim ZS, Eken AG, Sen NE, Kavak P, Saygı C, Sapp PC, Keagle P, Parman Y, Tan E, Koç F, Deymeer F, Oflazer P, Hanağası H, Gürvit H, Bilgiç B, Durmuş H, Ertaş M, Kotan D, Akalın MA, Güllüoğlu H, Zarifoğlu M, Aysal F, Döşoğlu N, Bilguvar K, Günel M, Keskin Ö, Akgün T, Özçelik H, Landers JE, Brown RH, Başak AN: The distinct genetic pattern of ALS in Turkey and novel mutations. Neurobiol Aging. 2015 Apr; 2015 Jan 10. PMID: 25681989
• Shenkar R, Shi C, Rebeiz T, Stockton RA, McDonald DA, Mikati AG, Zhang L, Austin C, Akers AL, Gallione CJ, Rorrer A, Gunel M, Min W, De Souza JM, Lee C, Marchuk DA, Awad IA: Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations. Genet Med. 2015 Mar; 2014 Aug 14. PMID: 25122144
• Ercan-Sencicek AG, Jambi S, Franjic D, Nishimura S, Li M, El-Fishawy P, Morgan TM, Sanders SJ, Bilguvar K, Suri M, Johnson MH, Gupta AR, Yuksel Z, Mane S, Grigorenko E, Picciotto M, Alberts AS, Gunel M, Šestan N, State MW: Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans. Eur J Hum Genet. 2015 Feb; 2014 Apr 30. PMID: 24781755
• Murray PB, Lax I, Reshetnyak A, Ligon GF, Lillquist JS, Natoli EJ Jr, Shi X, Folta-Stogniew E, Gunel M, Alvarado D, Schlessinger J: Heparin is an activating ligand of the orphan receptor tyrosine kinase ALK. Sci Signal. 2015 Jan 20; 2015 Jan 20. PMID: 25605972
• Caglayan 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. Eur J Med Genet. 2015 Jan; 2014 Sep 9. PMID: 25220016
• Mishra-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 Dec 17. PMID: 25521378
• Caglayan AO, Baranoski JF, Aktar F, Han W, Tuysuz B, Guzel A, Guclu B, Kaymakcalan H, Aktekin B, Akgumus GT, Murray PB, Erson-Omay EZ, Caglar C, Bakircioglu M, Sakalar YB, Guzel E, Demir N, Tuncer O, Senturk S, Ekici B, Minja FJ, Šestan N, Yasuno K, Bilguvar K, Caksen H, Gunel M: Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations. Pediatr Neurol. 2014 Dec; 2014 Sep 4. PMID: 25456301
• Vilarinho S, Erson-Omay EZ, Harmanci AS, Morotti R, Carrion-Grant G, Baranoski J, Knisely AS, Ekong U, Emre S, Yasuno K, Bilguvar K, Günel M: Paediatric hepatocellular carcinoma due to somatic CTNNB1 and NFE2L2 mutations in the setting of inherited bi-allelic ABCB11 mutations. J Hepatol. 2014 Nov; 2014 Jul 10. PMID: 25016225
• Baranoski JF, Grant RA, Hirsch LJ, Visintainer P, Gerrard JL, Günel M, Matouk CC, Spencer DD, Bulsara KR: Seizure control for intracranial arteriovenous malformations is directly related to treatment modality: a meta-analysis. J Neurointerv Surg. 2014 Nov; 2013 Dec 6. PMID: 24319021
• Gündüz A, Eken AG, Bilgiç B, Hanagasi HA, Bilgüvar K, Günel M, Başak AN, Ertan S: FBXO7-R498X mutation: phenotypic variability from chorea to early onset parkinsonism within a family. Parkinsonism Relat Disord. 2014 Nov; 2014 Aug 14. PMID: 25169713
• Elia MD, Gunel M, Servat JJ, Levin F: Extraction of Fronto-orbital Shower Hook through Transcranial Orbitotomy. Craniomaxillofac Trauma Reconstr. 2014 Jun; 2014 Mar 4. PMID: 25050150
• Schaffer AE, Eggens VR, Caglayan AO, Reuter MS, Scott E, Coufal NG, Silhavy JL, Xue Y, Kayserili H, Yasuno K, Rosti RO, Abdellateef M, Caglar C, Kasher PR, Cazemier JL, Weterman MA, Cantagrel V, Cai N, Zweier C, Altunoglu U, Satkin NB, Aktar F, Tuysuz B, Yalcinkaya C, Caksen H, Bilguvar K, Fu XD, Trotta CR, Gabriel S, Reis A, Gunel M, Baas F, Gleeson JG: CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration. Cell. 2014 Apr 24. PMID: 24766810
• Louvi A, Nishimura S, Günel M: Ccm3, a gene associated with cerebral cavernous malformations, is required for neuronal migration. Development. 2014 Mar. PMID: 24595293
• Novarino 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, El Din Mahmoud IG, 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 Jan 31. PMID: 24482476
• Kurki MI, Gaál EI, Kettunen J, Lappalainen T, Menelaou A, Anttila V, van 't Hof FN, von Und Zu 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 Genet. 2014 Jan; 2014 Jan 30. PMID: 24497844
• Akizu 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. Am J Hum Genet. 2014 Jan 2; 2013 Dec 19. PMID: 24360807
• Chen M, Gunel M, Zhao H: SomatiCA: identifying, characterizing and quantifying somatic copy number aberrations from cancer genome sequencing data. PLoS One. 2013; 2013 Nov 12. PMID: 24265680
• Matouk 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 aneurysms: proof of principle. Neurosurgery. 2013 Mar. PMID: 23151622
• Clark VE, Erson-Omay EZ, Serin A, Yin J, Cotney J, Ozduman K, Avşar T, Li J, Murray PB, Henegariu O, Yilmaz S, Günel JM, Carrión-Grant G, Yilmaz B, Grady C, Tanrikulu B, Bakircioğlu 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, Kiliç 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 Mar 1; 2013 Jan 24. PMID: 23348505
• Bilguvar 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. Proc Natl Acad Sci U S A. 2013 Feb 26; 2013 Jan 28. PMID: 23359680
• Sanders 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, Sestan 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 Apr 4; 2012 Apr 4. PMID: 22495306
• Fernandez 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. Biol Psychiatry. 2012 Mar 1; 2011 Dec 14. PMID: 22169095
• Yasuno 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. Proc Natl Acad Sci U S A. 2011 Dec 6; 2011 Nov 21. PMID: 22106312
• Sanders 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 Jr, 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 Jun 9. PMID: 21658581
• Barak 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, Cağlayan AO, Oztürk AK, Yasuno K, Brunken WJ, Atalar E, Yalçınkaya C, Dinçer A, Bronen RA, Mane S, Ozçelik T, Lifton RP, Sestan N, Bilgüvar K, Günel M: Recessive LAMC3 mutations cause malformations of occipital cortical development. Nat Genet. 2011 Jun; 2011 May 15. PMID: 21572413
• Bakircioglu 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. Am J Hum Genet. 2011 May 13; 2011 Apr 28. PMID: 21529752
• Louvi 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. Proc Natl Acad Sci U S A. 2011 Mar 1; 2011 Feb 14. PMID: 21321212
• Arlier Z, Bayri Y, Kolb LE, Erturk O, Ozturk AK, Bayrakli F, Bilguvar K, Moliterno JA, Dervent A, Demirbilek V, Yalcinkaya C, Korkmaz B, Tuysuz B, Gunel M: Four novel SCN1A mutations in Turkish patients with severe myoclonic epilepsy of infancy (SMEI). J Child Neurol. 2010 Oct; 2010 Jan 28. PMID: 20110217
• Bilgüvar K, Oztürk AK, Louvi A, Kwan KY, Choi M, Tatli B, Yalnizoğlu D, Tüysüz B, Cağlayan AO, Gökben S, Kaymakçalan H, Barak T, Bakircioğlu M, Yasuno K, Ho W, Sanders S, Zhu Y, Yilmaz S, Dinçer A, Johnson MH, Bronen RA, Koçer N, Per H, Mane S, Pamir MN, Yalçinkaya C, Kumandaş S, Topçu M, Ozmen M, Sestan N, Lifton RP, State MW, Günel M: Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature. 2010 Sep 9; 2010 Aug 22. PMID: 20729831
• Kolb 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 Jul; 2010 Jan 15. PMID: 20082205
• Nixon AM, Gunel M, Sumpio BE: The critical role of hemodynamics in the development of cerebral vascular disease. J Neurosurg. 2010 Jun. PMID: 19943737
• Ercan-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. N Engl J Med. 2010 May 20; 2010 May 5. PMID: 20445167
• Yasuno 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. Nat Genet. 2010 May; 2010 Apr 4. PMID: 20364137
• He 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. Sci Signal. 2010 Apr 6; 2010 Apr 6. PMID: 20371769
• Bayrakli F, Guney I, Bayri Y, Ercan-Sencicek AG, Ceyhan D, Cankaya T, Mason C, Bilguvar K, Bayrakli S, Mane SM, State MW, Gunel M: A novel heterozygous deletion within the 3' region of the PAX6 gene causing isolated aniridia in a large family group. J Clin Neurosci. 2009 Dec; 2009 Sep 29. PMID: 19793656
• Bilguvar 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. Am J Med Genet A. 2009 Nov. PMID: 19876906
• Bilguvar K, DiLuna ML, Bizzarro MJ, Bayri Y, Schneider KC, Lifton RP, Gunel M, Ment LR, Pacifier and Breastfeeding Trial Group.: COL4A1 mutation in preterm intraventricular hemorrhage. J Pediatr. 2009 Nov. PMID: 19840616
• Chen 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 Apr; 2009 Feb 26. PMID: 19246713
• Diluna ML, Bydon M, Gunel M, Johnson MH: Complications from cervical intra-arterial heroin injection. BMJ Case Rep. 2009; 2009 Feb 18. PMID: 21687278
• Bilguvar 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, Ohman 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. Nat Genet. 2008 Dec; 2008 Nov 9. PMID: 18997786
• Bakkaloglu 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. Am J Hum Genet. 2008 Jan. PMID: 18179895
• Bayrakli 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. Hum Mutat. 2007 Dec. PMID: 17676595
• 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. J Neurosurg. 2007 Dec. PMID: 18154020
• DiLuna ML, Bydon M, Gunel M, Johnson MH: Neurological picture. Complications from cervical intra-arterial heroin injection. J Neurol Neurosurg Psychiatry. 2007 Nov. PMID: 17940170
• Diluna ML, Amankulor NM, Johnson MH, Gunel M: Cerebrovascular disease associated with Aarskog-Scott syndrome. Neuroradiology. 2007 May; 2007 Feb 10. PMID: 17294235
• Nahed BV, Bydon M, Ozturk AK, Bilguvar K, Bayrakli F, Gunel M: Genetics of intracranial aneurysms. Neurosurgery. 2007 Feb. PMID: 17290171
• Ozturk 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 Apr; 2006 Feb 23. PMID: 16497978
• Seker A, Pricola KL, Guclu B, Ozturk AK, Louvi A, Gunel M: CCM2 expression parallels that of CCM1. Stroke. 2006 Feb; 2005 Dec 22. PMID: 16373645
• Guclu B, Ozturk AK, Pricola KL, Bilguvar K, Shin D, O'Roak BJ, Gunel M: Mutations in apoptosis-related gene, PDCD10, cause cerebral cavernous malformation 3. Neurosurgery. 2005 Nov. PMID: 16284570
• Guclu B, Ozturk AK, Pricola KL, Seker A, Ozek M, Gunel M: Cerebral venous malformations have distinct genetic origin from cerebral cavernous malformations. Stroke. 2005 Nov; 2005 Oct 20. PMID: 16239636
• Abelson JF, Kwan KY, O'Roak BJ, Baek DY, Stillman AA, Morgan TM, Mathews CA, Pauls DL, Rasin MR, Gunel M, Davis NR, Ercan-Sencicek AG, Guez DH, Spertus JA, Leckman JF, Dure LS 4th, Kurlan R, Singer HS, Gilbert DL, Farhi A, Louvi A, Lifton RP, Sestan N, State MW: Sequence variants in SLITRK1 are associated with Tourette's syndrome. Science. 2005 Oct 14. PMID: 16224024
• 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 Oct. PMID: 16239879
• Nahed 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. Am J Hum Genet. 2005 Jan; 2004 Nov 11. PMID: 15540160
• 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. J Neurosurg. 2004 May. PMID: 15287459
• Guzeloglu-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 Apr. PMID: 15046662
• Komuro 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. Proc Natl Acad Sci U S A. 2004 Mar 23; 2004 Mar 8. PMID: 15007166
• 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. J Neurosurg. 2003 Jul. PMID: 12854741
• State 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. Proc Natl Acad Sci U S A. 2003 Apr 15; 2003 Apr 7. PMID: 12682296
• Gunel 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. Proc Natl Acad Sci U S A. 2002 Aug 6; 2002 Jul 24. PMID: 12140362

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