Publications Page

Early pain findings in infants with brachial plexus birth injury: Relationship with function and comorbidities, and cut-off point for fractures.Delioğlu K, Uzumcugil A, Ozturk E, Gunel MK. Early Hum Dev. 2024 Dec; 2024 Nov 12. PMID: 39547114.
CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow.Kim AH, Sakin I, Viviano S, Tuncel G, Aguilera SM, Goles G, Jeffries L, Ji W, Lakhani SA, Kose CC, Silan F, Oner SS, Kaplan OI, Ergoren MC, Mishra-Gorur K, Gunel M, Sag SO, Temel SG, Deniz E. Life Sci Alliance. 2024 Oct; 2024 Aug 21. PMID: 39168639.
Evaluation of the efficacy of subtenon autologous platelet-rich plasma therapy in patients with retinitis pigmentosa and factors affecting response to the treatment.Sahli E, Özmert E, Günel MD, Atilla H. Int Ophthalmol. 2024 Sep 23; 2024 Sep 23. PMID: 39313744.
Variations in the genomic profiles and clinical behavior of meningioma by racial and ethnic group.Tabor JK, Dincer A, O'Brien J, Lei H, Vetsa S, Vasandani S, Jalal MI, Yalcin K, Morales-Valero SF, Marianayagam N, Alanya H, Elsamadicy AA, Millares Chavez MA, Aguilera SM, Mishra-Gorur K, McGuone D, Fulbright RK, Jin L, Erson-Omay EZ, Günel M, Moliterno J. J Neurosurg. 2024 Sep 1; 2024 Mar 22. PMID: 38518289.
Reply to Pisan et al.: Pathogenicity of inherited TRAF7 mutations in congenital heart disease.Mishra-Gorur K, Barak T, Kaulen LD, Henegariu O, Jin SC, Aguilera SM, Yalbir E, Goles G, Nishimura S, Miyagishima D, Djenoune L, Altinok S, Rai DK, Viviano S, Prendergast A, Zerillo C, Ozcan K, Baran B, Sencar L, Goc N, Yarman Y, Ercan-Encicek AG, Bilguvar K, Lifton RP, Moliterno J, Louvi A, Yuan S, Deniz E, Brueckner M, Gunel M. Proc Natl Acad Sci U S A. 2024 Mar 19; 2024 Mar 11. PMID: 38466853.
APOE ε4 and Intracerebral Hemorrhage in Patients With Brain Arteriovenous Malformation.Renedo D, Rivier CA, Koo AB, Sujijantarat N, Clocchiatti-Tuozzo S, Wu K, Torres-Lopez VM, Huo S, Gunel M, de Havenon A, Sheth KN, Matouk CC, Falcone GJ. JAMA Netw Open. 2024 Feb 5; 2024 Feb 5. PMID: 38363572.
A systematic review and individual participant data meta-analysis of gonadal steroid hormone receptors in meningioma.Miyagishima DF, Sundaresan V, Gutierrez AG, Barak T, Yeung J, Moliterno J, McGuone D, Claus EB, Günel M. J Neurosurg. 2023 Dec 1; 2023 May 26. PMID: 37243565.
Clinical and genomic differences in supratentorial versus infratentorial NF2 mutant meningiomas.Tabor JK, O'Brien J, Vasandani S, Vetsa S, Lei H, Jalal MI, Marianayagam NJ, Jin L, Millares Chavez M, Haynes J, Dincer A, Yalcin K, Aguilera SM, Omay SB, Mishra-Gorur K, McGuone D, Morales-Valero SF, Fulbright RK, Gunel M, Erson-Omay EZ, Moliterno J. J Neurosurg. 2023 Dec 1; 2023 May 26. PMID: 37243548.
Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations.Zhao S, Mekbib KY, van der Ent MA, Allington G, Prendergast A, Chau JE, Smith H, Shohfi J, Ocken J, Duran D, Furey CG, Hao LT, Duy PQ, Reeves BC, Zhang J, Nelson-Williams C, Chen D, Li B, Nottoli T, Bai S, Rolle M, Zeng X, Dong W, Fu PY, Wang YC, Mane S, Piwowarczyk P, Fehnel KP, See AP, Iskandar BJ, Aagaard-Kienitz B, Moyer QJ, Dennis E, Kiziltug E, Kundishora AJ, DeSpenza T Jr, Greenberg ABW, Kidanemariam SM, Hale AT, Johnston JM, Jackson EM, Storm PB, Lang SS, Butler WE, Carter BS, Chapman P, Stapleton CJ, Patel AB, Rodesch G, Smajda S, Berenstein A, Barak T, Erson-Omay EZ, Zhao H, Moreno-De-Luca A, Proctor MR, Smith ER, Orbach DB, Alper SL, Nicoli S, Boggon TJ, Lifton RP, Gunel M, King PD, Jin SC, Kahle KT. Nat Commun. 2023 Nov 17; 2023 Nov 17. PMID: 37978175.
Super-enhancer hijacking drives ectopic expression of hedgehog pathway ligands in meningiomas.Youngblood MW, Erson-Omay Z, Li C, Najem H, Coșkun S, Tyrtova E, Montejo JD, Miyagishima DF, Barak T, Nishimura S, Harmancı AS, Clark VE, Duran D, Huttner A, Avşar T, Bayri Y, Schramm J, Boetto J, Peyre M, Riche M, Goldbrunner R, Amankulor N, Louvi A, Bilgüvar K, Pamir MN, Özduman K, Kilic T, Knight JR, Simon M, Horbinski C, Kalamarides M, Timmer M, Heimberger AB, Mishra-Gorur K, Moliterno J, Yasuno K, Günel M. Nat Commun. 2023 Oct 7; 2023 Oct 7. PMID: 37805627.
Cut-off values of internal rotation in the glenohumeral joint for functional tasks in children with brachial plexus birth injury.Delioğlu K, Uzumcugil A, Öztürk E, Bıyık KS, Ozal C, Gunel MK. J Hand Surg Eur Vol. 2023 Sep; 2023 Feb 14. PMID: 36788751.
The clinical and genomic features of seizures in meningiomas.Dincer A, Jalal MI, Gupte TP, Vetsa S, Vasandani S, Yalcin K, Marianayagam N, Blondin N, Corbin Z, McGuone D, Fulbright RK, Erson-Omay Z, Günel M, Moliterno J. Neurooncol Adv. 2023 May; 2023 Jun 3. PMID: 37287582.
Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy.Khoshkhoo S, Wang Y, Chahine Y, Erson-Omay EZ, Robert SM, Kiziltug E, Damisah EC, Nelson-Williams C, Zhu G, Kong W, Huang AY, Stronge E, Phillips HW, Chhouk BH, Bizzotto S, Chen MH, Adikari TN, Ye Z, Witkowski T, Lai D, Lee N, Lokan J, Scheffer IE, Berkovic SF, Haider S, Hildebrand MS, Yang E, Gunel M, Lifton RP, Richardson RM, Blümcke I, Alexandrescu S, Huttner A, Heinzen EL, Zhu J, Poduri A, DeLanerolle N, Spencer DD, Lee EA, Walsh CA, Kahle KT. JAMA Neurol. 2023 Jun 1. PMID: 37126322.
Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease.Mishra-Gorur K, Barak T, Kaulen LD, Henegariu O, Jin SC, Aguilera SM, Yalbir E, Goles G, Nishimura S, Miyagishima D, Djenoune L, Altinok S, Rai DK, Viviano S, Prendergast A, Zerillo C, Ozcan K, Baran B, Sencar L, Goc N, Yarman Y, Ercan-Sencicek AG, Bilguvar K, Lifton RP, Moliterno J, Louvi A, Yuan S, Deniz E, Brueckner M, Gunel M. Proc Natl Acad Sci U S A. 2023 Apr 18; 2023 Apr 12. PMID: 37043537.
Lower extremity proprioception and its association with activity and participation in children with unilateral spastic cerebral palsy.Ipek Erdem F, Gunel MK, Alemdaroglu-Gurbuz I. Arch Pediatr. 2023 Apr; 2023 Mar 10. PMID: 36907729.
Genetic dysregulation of an endothelial Ras signaling network in vein of Galen malformations.Zhao S, Mekbib KY, van der Ent MA, Allington G, Prendergast A, Chau JE, Smith H, Shohfi J, Ocken J, Duran D, Furey CG, Le HT, Duy PQ, Reeves BC, Zhang J, Nelson-Williams C, Chen D, Li B, Nottoli T, Bai S, Rolle M, Zeng X, Dong W, Fu PY, Wang YC, Mane S, Piwowarczyk P, Fehnel KP, See AP, Iskandar BJ, Aagaard-Kienitz B, Kundishora AJ, DeSpenza T, Greenberg ABW, Kidanemariam SM, Hale AT, Johnston JM, Jackson EM, Storm PB, Lang SS, Butler WE, Carter BS, Chapman P, Stapleton CJ, Patel AB, Rodesch G, Smajda S, Berenstein A, Barak T, Erson-Omay EZ, Zhao H, Moreno-De-Luca A, Proctor MR, Smith ER, Orbach DB, Alper SL, Nicoli S, Boggon TJ, Lifton RP, Gunel M, King PD, Jin SC, Kahle KT. bioRxiv. 2023 Mar 21; 2023 Mar 21. PMID: 36993588.
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. Neuro Oncol. 2023 Mar 14. PMID: 35901838.
Vascular steal and associated intratumoral aneurysms in highly vascular brain tumors: illustrative case.Hong CS, Marianayagam NJ, Morales-Valero SF, Barak T, Tabor JK, O'Brien J, Huttner A, Baehring J, Gunel M, Erson-Omay EZ, Fulbright RK, Matouk CC, Moliterno J. J Neurosurg Case Lessons. 2023 Mar 6; 2023 Mar 6. PMID: 36880509.
Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts.Kundishora AJ, Allington G, McGee S, Mekbib KY, Gainullin V, Timberlake AT, Nelson-Williams C, Kiziltug E, Smith H, Ocken J, Shohfi J, Allocco A, Duy PQ, Elsamadicy AA, Dong W, Zhao S, Wang YC, Qureshi HM, DiLuna ML, Mane S, Tikhonova IR, Fu PY, Castaldi C, López-Giráldez F, Knight JR, Furey CG, Carter BS, Haider S, Moreno-De-Luca A, Alper SL, Gunel M, Millan F, Lifton RP, Torene RI, Jin SC, Kahle KT. Nat Med. 2023 Mar; 2023 Mar 6. PMID: 36879130.
Effects of Telerehabilitation-Based Structured Home Program on Activity, Participation and Goal Achievement in Preschool Children with Cerebral Palsy: A Triple-Blinded Randomized Controlled Trial.Sel SA, Günel MK, Erdem S, Tunçdemir M. Children (Basel). 2023 Feb 22; 2023 Feb 22. PMID: 36979982.
The choroid plexus links innate immunity to CSF dysregulation in hydrocephalus.Robert SM, Reeves BC, Kiziltug E, Duy PQ, Karimy JK, Mansuri MS, Marlier A, Allington G, Greenberg ABW, DeSpenza T Jr, Singh AK, Zeng X, Mekbib KY, Kundishora AJ, Nelson-Williams C, Hao LT, Zhang J, Lam TT, Wilson R, Butler WE, Diluna ML, Feinberg P, Schafer DP, Movahedi K, Tannenbaum A, Koundal S, Chen X, Benveniste H, Limbrick DD Jr, Schiff SJ, Carter BS, Gunel M, Simard JM, Lifton RP, Alper SL, Delpire E, Kahle KT. Cell. 2023 Feb 16. PMID: 36803604.
Validity and Reliability of the Turkish Version of the KIDSCREEN-27 for Individuals With Cerebral Palsy.Bingol H, Gunel MK, Asena Sel S, Burc E, Fidan H. Percept Mot Skills. 2023 Feb; 2022 Nov 1. PMID: 36318645.
How does treadmill training contribute to botulinum toxin application plus routine physical therapy in ambulatory children with spastic bilateral cerebral palsy? A randomized controlled trial.Bıyık KS, Günel MK, Akyüz EÜ. Ir J Med Sci. 2023 Feb; 2022 Feb 27. PMID: 35224682.
Measure of Processes of Care (MPOC-56 and 20): Turkish adaptation, reliability, and validity study.Türker D, Özal C, Karahan S, Günel MK. Turk J Pediatr. 2023. PMID: 37395970.
Hormone therapies in meningioma-where are we?Miyagishima DF, Moliterno J, Claus E, Günel M. J Neurooncol. 2023 Jan; 2022 Nov 23. PMID: 36418843.
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.Cali E, Suri M, Scala M, Ferla MP, Alavi S, Faqeih EA, Bijlsma EK, Wigby KM, Baralle D, Mehrjardi MYV, Schwab J, Platzer K, Steindl K, Hashem M, Jones M, Niyazov DM, Jacober J, Littlejohn RO, Weis D, Zadeh N, Rodan L, Goldenberg A, Lecoquierre F, Dutra-Clarke M, Horvath G, Young D, Orenstein N, Bawazeer S, Vulto-van Silfhout AT, Herenger Y, Dehghani M, Seyedhassani SM, Bahreini A, Nasab ME, Ercan-Sencicek AG, Firoozfar Z, Movahedinia M, Efthymiou S, Striano P, Karimiani EG, Salpietro V, Taylor JC, Redman M, Stegmann APA, Laner A, Abdel-Salam G, Li M, Bengala M, Müller AJ, Digilio MC, Rauch A, Gunel M, Titheradge H, Schweitzer DN, Kraus A, Valenzuela I, McLean SD, Phornphutkul C, Salih M, Begtrup A, Schnur RE, Torti E, Haack TB, Prada CE, Alkuraya FS, Houlden H, Maroofian R. Genet Med. 2023 Jan; 2022 Nov 18. PMID: 36399134.
Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome.Caglayan AO, Tuysuz B, Gül E, Alkaya DU, Yalcinkaya C, Gleeson JG, Bilguvar K, Gunel M. J Hum Genet. 2022 Sep; 2022 Mar 25. PMID: 35338243.
Interferon-γ resistance and immune evasion in glioma develop via Notch-regulated co-evolution of malignant and immune cells.Parmigiani 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. Dev Cell. 2022 Aug 8; 2022 Jul 7. PMID: 35803280.
Validity and reliability of the Turkish version of the pediatric motor activity log-revised (PMAL-R) for 2-17 year old children with hemiparetic cerebral palsy.Günel MK, Seyhan K, Delioğlu K, Doğan TD, Altunalan T, Kala Y, Taub E, Uswatte G. Disabil Rehabil. 2022 Jul; 2021 Feb 24. PMID: 33625932.
Correction: Genomic profiling of sporadic multiple meningiomas.Erson-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. BMC Med Genomics. 2022 Jun 13; 2022 Jun 13. PMID: 35698142.
Mutation spectrum of congenital heart disease in a consanguineous Turkish population.Dong W, Kaymakcalan H, Jin SC, Diab NS, Tanıdır C, Yalcin ASY, Ercan-Sencicek AG, Mane S, Gunel M, Lifton RP, Bilguvar K, Brueckner M. Mol Genet Genomic Med. 2022 Jun; 2022 Apr 28. PMID: 35481623.
P 087 - The effects of group training onbalance and gait in a child with polyneuropathy.Üneş S, Tunçdemir M, Seyhan K, Çankaya O, Günel MK. Gait Posture. 2022 Jun; 2018 Jul 10. PMID: 30145010.
Genomic profiling of sporadic multiple meningiomas.Erson-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. BMC Med Genomics. 2022 May 14; 2022 May 14. PMID: 35568945.
Dual-task training effect on gait parameters in children with spastic diplegic cerebral palsy: Preliminary results of a self-controlled study.Okur EO, Arik MI, Okur I, Gokpinar HH, Gunel MK. Gait Posture. 2022 May; 2022 Feb 17. PMID: 35247824.
The quest to unravel the complex genomics of intracranial aneurysms.Barak T, Günel M. Nat Cardiovasc Res. 2022 Apr. PMID: 39196131.
Comparing the effects of modified constraint-induced movement therapy and bimanual training in children with hemiplegic cerebral palsy mainstreamed in regular school: A randomized controlled study.Bingöl H, Günel MK. Arch Pediatr. 2022 Feb; 2022 Jan 14. PMID: 35039189.
Correction to: The integrated multiomic diagnosis of sporadic meningiomas: a review of its clinical implications.Robert SM, Vetsa S, Nadar A, Vasandani S, Youngblood MW, Gorelick E, Jin L, Marianayagam N, Erson-Omay EZ, Günel M, Moliterno J. J Neurooncol. 2022 Jan. PMID: 34967924.
The integrated multiomic diagnosis of sporadic meningiomas: a review of its clinical implications.Robert SM, Vetsa S, Nadar A, Vasandani S, Youngblood MW, Gorelick E, Jin L, Marianayagam N, Erson-Omay EZ, Günel M, Moliterno J. J Neurooncol. 2022 Jan; 2021 Nov 30. PMID: 34846640.
Genetically Determined Low-Density Lipoprotein Cholesterol and Risk of Subarachnoid Hemorrhage.Acosta JN, Both CP, Szejko N, Leasure AC, Abdelhakim S, Torres-Lopez VM, Brown SC, Matouk CC, Gunel M, Sheth KN, Falcone GJ. Ann Neurol. 2022 Jan; 2021 Nov 1. PMID: 34709661.
PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans.Barak 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 Jr, Khokha MK, Kahle KT, Yasuno K, Lifton RP, Mishra-Gorur K, Nicoli S, Günel M. Nat Med. 2021 Dec; 2021 Dec 9. PMID: 34887573.
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. Neuro Oncol. 2021 Nov 2. PMID: 33914067.
The genetic structure of the Turkish population reveals high levels of variation and admixture.Kars 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. Proc Natl Acad Sci U S A. 2021 Sep 7. PMID: 34426522.
Type of bony involvement predicts genomic subgroup in sphenoid wing meningiomas.Jin 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. J Neurooncol. 2021 Sep; 2021 Aug 4. PMID: 34350560.
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. J Neurosurg. 2021 Sep 1; 2020 Dec 4. PMID: 33276341.
DIAPH1 Variants in Non-East Asian Patients With Sporadic Moyamoya Disease.Kundishora AJ, Peters ST, Pinard A, Duran D, Panchagnula S, Barak T, Miyagishima DF, Dong W, Smith H, Ocken J, Dunbar A, Nelson-Williams C, Haider S, Walker RL, Li B, Zhao H, Thumkeo D, Marlier A, Duy PQ, Diab NS, Reeves BC, Robert SM, Sujijantarat N, Stratman AN, Chen YH, Zhao S, Roszko I, Lu Q, Zhang B, Mane S, Castaldi C, López-Giráldez F, Knight JR, Bamshad MJ, Nickerson DA, Geschwind DH, Chen SL, Storm PB, Diluna ML, Matouk CC, Orbach DB, Alper SL, Smith ER, Lifton RP, Gunel M, Milewicz DM, Jin SC, Kahle KT. JAMA Neurol. 2021 Aug 1. PMID: 34125151.
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. Neuro Oncol. 2021 May 5. PMID: 33068421.
Exome sequencing identifies SLIT2 variants in primary CNS lymphoma.Kaulen LD, Erson-Omay EZ, Henegariu O, Karschnia P, Huttner A, Günel M, Baehring JM. Br J Haematol. 2021 Apr; 2021 Jan 22. PMID: 33481259.
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 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 Jr, Velazquez EJ, Herbst RS, Iwasaki A, Ko AI, Mortazavi BJ, Krumholz HM, Schulz WL. PLoS One. 2021; 2021 Mar 31. PMID: 33788846.
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. J Exp Med. 2021 Mar 1. PMID: 33433624.
METAP1 mutation is a novel candidate for autosomal recessive intellectual disability.Caglayan AO, Aktar F, Bilguvar K, Baranoski JF, Akgumus GT, Harmanci AS, Erson-Omay EZ, Yasuno K, Caksen H, Gunel M. J Hum Genet. 2021 Feb; 2020 Aug 6. PMID: 32764695.
A Quantitative Assessment of Pre-Operative MRI Reports in Glioma Patients: Report Metrics and IDH Prediction Ability.Cao H, Erson-Omay EZ, Günel M, Moliterno J, Fulbright RK. Front Oncol. 2020; 2021 Jan 29. PMID: 33585216.
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. J Neuropathol Exp Neurol. 2021 Jan 20. PMID: 33393633.
The functional health status of children with cerebral palsy during the COVID-19 pandemic stay-at-home period: a parental perspective.Bıyık KS, Özal C, Tunçdemir M, Üneş S, Delioğlu K, Günel MK. Turk J Pediatr. 2021. PMID: 33929112.
Genetically Determined Smoking Behavior and Risk of Nontraumatic Subarachnoid Hemorrhage.Acosta JN, Szejko N, Both CP, Vanent K, Noche RB, Gill TM, Matouk CC, Sheth KN, Gunel M, Falcone GJ. Stroke. 2021 Jan; 2021 Jan 14. PMID: 33440997.
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, Cruz CSD, Farhadian SF, Siner J, Villanueva M, Churchwell K, Hsiao A, Torre CJ Jr, Velazquez EJ, Herbst RS, Iwasaki A, Ko AI, Mortazavi BJ, Krumholz HM, Schulz WL. medRxiv. 2020 Nov 8; 2020 Nov 8. PMID: 32743602.
Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus.Jin 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 Jr, 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. Nat Med. 2020 Nov; 2020 Oct 19. PMID: 33077954.
Correlations between genomic subgroup and clinical features in a cohort of more than 3000 meningiomas.Youngblood MW, Duran D, Montejo JD, Li C, Omay SB, Özduman K, Sheth AH, Zhao AY, Tyrtova E, Miyagishima DF, Fomchenko EI, Hong CS, Clark VE, Riche M, Peyre M, Boetto J, Sohrabi S, Koljaka S, Baranoski JF, Knight J, Zhu H, Pamir MN, Avşar T, Kilic T, Schramm J, Timmer M, Goldbrunner R, Gong Y, Bayri Y, Amankulor N, Hamilton RL, Bilguvar K, Tikhonova I, Tomak PR, Huttner A, Simon M, Krischek B, Kalamarides M, Erson-Omay EZ, Moliterno J, Günel M. J Neurosurg. 2020 Nov 1; 2019 Oct 25. PMID: 31653806.
Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia.Dong 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 Jr, Simard JM, Eskandar EN, Gottschalk C, Moliterno J, Günel M, Gerrard JL, Dib-Hajj S, Waxman SG, Barker FG 2nd, Alper SL, Chahine M, Haider S, De Koninck Y, Lifton RP, Kahle KT. iScience. 2020 Oct 23; 2020 Sep 11. PMID: 33083721.
Genomic alterations in Turcot syndrome: Insights from whole exome sequencing.Karschnia P, Erson-Omay EZ, Huttner AJ, Kaulen LD, Duran D, Fulbright RK, Günel M, Baehring JM. J Neurol Sci. 2020 Oct 15; 2020 Jul 25. PMID: 32739502.
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. bioRxiv. 2020 Sep 8; 2020 Sep 8. PMID: 32935108.
Genetically Elevated LDL Associates with Lower Risk of Intracerebral Hemorrhage.Falcone 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 CL, Petersen NH, Matouk Md 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. Ann Neurol. 2020 Jul; 2020 May 7. PMID: 32277781.
Correction to: A quantitative model based on clinically relevant MRI features differentiates lower grade gliomas and glioblastoma.Cao H, Erson-Omay EZ, Li X, Günel M, Moliterno J, Fulbright RK. Eur Radiol. 2020 Jul. PMID: 32152743.
A quantitative model based on clinically relevant MRI features differentiates lower grade gliomas and glioblastoma.Cao H, Erson-Omay EZ, Li X, Günel M, Moliterno J, Fulbright RK. Eur Radiol. 2020 Jun; 2020 Feb 5. PMID: 32025832.
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.Perenthaler E, Nikoncuk A, Yousefi S, Berdowski WM, Alsagob M, Capo I, van der Linde HC, van den Berg P, Jacobs EH, Putar D, Ghazvini M, Aronica E, van IJcken WFJ, de Valk WG, Medici-van den Herik E, van Slegtenhorst M, Brick L, Kozenko M, Kohler JN, Bernstein JA, Monaghan KG, Begtrup A, Torene R, Al Futaisi A, Al Murshedi F, Mani R, Al Azri F, Kamsteeg EJ, Mojarrad M, Eslahi A, Khazaei Z, Darmiyan FM, Doosti M, Karimiani EG, Vandrovcova J, Zafar F, Rana N, Kandaswamy KK, Hertecant J, Bauer P, AlMuhaizea MA, Salih MA, Aldosary M, Almass R, Al-Quait L, Qubbaj W, Coskun S, Alahmadi KO, Hamad MHA, Alwadaee S, Awartani K, Dababo AM, Almohanna F, Colak D, Dehghani M, Mehrjardi MYV, Gunel M, Ercan-Sencicek AG, Passi GR, Cheema HA, Efthymiou S, Houlden H, Bertoli-Avella AM, Brooks AS, Retterer K, Maroofian R, Kaya N, van Ham TJ, Barakat TS. Acta Neuropathol. 2020 Mar; 2019 Dec 9. PMID: 31820119.
Molecular genetics of meningiomas.Youngblood MW, Günel M. Handb Clin Neurol. 2020. PMID: 32553282.
Gross motor development of preschool children: effects of socioeconomic status and maternal education.Özal C, Bayoğlu B, Karahan S, Günel MK, Anlar B. Turk J Pediatr. 2020. PMID: 32253861.
Recessive Inheritance of Congenital Hydrocephalus With Other Structural Brain Abnormalities Caused by Compound Heterozygous Mutations in ATP1A3.Allocco AA, Jin SC, Duy PQ, Furey CG, Zeng X, Dong W, Nelson-Williams C, Karimy JK, DeSpenza T, Hao LT, Reeves B, Haider S, Gunel M, Lifton RP, Kahle KT. Front Cell Neurosci. 2019; 2019 Sep 26. PMID: 31616254.
Inter-intra observer reliability and validity of the Turkish version of Trunk Control Measurement Scale in children with cerebral palsy.Ozal C, Ari G, Gunel MK. Acta Orthop Traumatol Turc. 2019 Sep; 2019 Jul 11. PMID: 31303422.
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome).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. J Med Genet. 2019 May; 2018 Nov 28. PMID: 30487245.
Insights into genetics, human biology and disease gleaned from family based genomic studies.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. Genet Med. 2019 Apr; 2019 Jan 18. PMID: 30655598.
Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation.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. Neuron. 2019 Feb 6; 2018 Dec 18. PMID: 30578106.
Serum Prolidase Enzyme Activity Level: Not a Predictive Biomarker for Epilepsy.Ayas ZO, Kotan D, Akdogan M, Gunel ME. Eurasian J Med. 2019 Feb; 2018 Nov 30. PMID: 30911252.
Human Genetics and Molecular Mechanisms of Congenital Hydrocephalus.Furey CG, Zeng X, Dong W, Jin SC, Choi J, Timberlake AT, Dunbar AM, Allocco AA, Günel M, Lifton RP, Kahle KT. World Neurosurg. 2018 Nov; 2018 Sep 8. PMID: 30205212.
Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.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. Ann Neurol. 2018 Nov; 2018 Oct 4. PMID: 30178464.
9p24 triplication in syndromic hydrocephalus with diffuse villous hyperplasia of the choroid plexus.Furey C, Antwi P, Duran D, Timberlake AT, Nelson-Williams C, Matouk CC, DiLuna ML, Günel M, Kahle KT. Cold Spring Harb Mol Case Stud. 2018 Oct; 2018 Oct 1. PMID: 29895553.
Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.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. Nat Genet. 2018 Aug; 2018 Jul 16. PMID: 30013181.
De novo MYH9 mutation in congenital scalp hemangioma.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. Cold Spring Harb Mol Case Stud. 2018 Aug; 2018 Aug 1. PMID: 29903892.
De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus.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. Neuron. 2018 Jul 25; 2018 Jul 5. PMID: 29983323.
Integrated genomic analyses of de novo pathways underlying atypical meningiomas.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. Nat Commun. 2018 Apr 20; 2018 Apr 20. PMID: 29676392.
Human genetics and molecular mechanisms of vein of Galen malformation.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. J Neurosurg Pediatr. 2018 Apr; 2018 Jan 19. PMID: 29350590.
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. J Neurosurg. 2018 Apr; 2017 Jun 16. PMID: 28621624.
Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.Yilmaz S, Uludağ Alkaya D, Kasapçopur Ö, Barut K, Akdemir ES, Celen C, Youngblood MW, Yasuno K, Bilguvar K, Günel M, Tüysüz B. Mol Genet Genomic Med. 2018 Mar; 2018 Feb 4. PMID: 29397575.
Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia.Kaymakcalan H, Yarman Y, Goc N, Toy F, Meral C, Ercan-Sencicek AG, Gunel M. Am J Med Genet A. 2018 Feb; 2017 Dec 11. PMID: 29226631.
AAV-mediated direct in vivo CRISPR screen identifies functional suppressors in glioblastoma.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. Nat Neurosci. 2017 Oct; 2017 Aug 14. PMID: 28805815.
Functional differences between PD-1+ and PD-1- CD4+ effector T cells in healthy donors and patients with glioblastoma multiforme.Goods BA, Hernandez AL, Lowther DE, Lucca LE, Lerner BA, Gunel M, Raddassi K, Coric V, Hafler DA, Love JC. PLoS One. 2017; 2017 Sep 7. PMID: 28880903.
ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features.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. Cold Spring Harb Mol Case Stud. 2017 Sep; 2017 Sep 1. PMID: 28630369.
Inflammation-dependent cerebrospinal fluid hypersecretion by the choroid plexus epithelium in posthemorrhagic hydrocephalus.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. Nat Med. 2017 Aug; 2017 Jul 10. PMID: 28692063.
Exome analysis of the evolutionary path of hepatocellular adenoma-carcinoma transition, vascular invasion and brain dissemination.Vilarinho S, Erson-Omay EZ, Mitchell-Richards K, Cha C, Nelson-Williams C, Harmancı AS, Yasuno K, Günel M, Taddei TH. J Hepatol. 2017 Jul; 2017 Mar 18. PMID: 28323122.
Familial occurrence of brain arteriovenous malformation: a novel ACVRL1 mutation detected by whole exome sequencing.Yılmaz B, Toktaş ZO, Akakın A, Işık S, Bilguvar K, Kılıç T, Günel M. J Neurosurg. 2017 Jun; 2016 Sep 9. PMID: 27611203.
Combined HMG-COA reductase and prenylation inhibition in treatment of CCM.Nishimura S, Mishra-Gorur K, Park J, Surovtseva YV, Sebti SM, Levchenko A, Louvi A, Gunel M. Proc Natl Acad Sci U S A. 2017 May 23; 2017 May 12. PMID: 28500274.
Disruptions in asymmetric centrosome inheritance and WDR62-Aurora kinase B interactions in primary microcephaly.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. Sci Rep. 2017 Mar 8; 2017 Mar 8. PMID: 28272472.
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.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. Nat Genet. 2017 Mar; 2017 Jan 16. PMID: 28092684.
Integrated genomic analyses of de novo pathways underlying atypical meningiomas.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. Nat Commun. 2017 Feb 14; 2017 Feb 14. PMID: 28195122.
Longitudinal analysis of treatment-induced genomic alterations in gliomas.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. Genome Med. 2017 Feb 2; 2017 Feb 2. PMID: 28153049.
2-Hydroxyglutarate produced by neomorphic IDH mutations suppresses homologous recombination and induces PARP inhibitor sensitivity.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. Sci Transl Med. 2017 Feb 1. PMID: 28148839.
Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari I malformation.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. Hum Genome Var. 2016; 2016 Dec 8. PMID: 28018608.
Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder.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. Cell. 2016 Dec 1. PMID: 27912058.
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.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. Am J Hum Genet. 2016 Nov 3; 2016 Oct 20. PMID: 27773428.
ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment.Vilarinho S, Sari S, Mazzacuva F, Bilgüvar K, Esendagli-Yilmaz G, Jain D, Akyol G, Dalgiç B, Günel M, Clayton PT, Lifton RP. Proc Natl Acad Sci U S A. 2016 Oct 4; 2016 Sep 19. PMID: 27647924.
Recurrent somatic mutations in POLR2A define a distinct subset of meningiomas.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. Nat Genet. 2016 Oct; 2016 Aug 22. PMID: 27548314.