Murat Gunel, MD - Publications

Affiliations: 
2014- Neurosurgery Yale University, New Haven, CT 

36 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2016 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, ... ... Gunel M, et al. Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly. American Journal of Human Genetics. PMID 27453578 DOI: 10.1016/j.ajhg.2016.07.004  0.4
2016 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, et al. B-Cell Depletion Reduces the Maturation of Cerebral Cavernous Malformations in Murine Models. Journal of Neuroimmune Pharmacology : the Official Journal of the Society On Neuroimmune Pharmacology. PMID 27086141 DOI: 10.1007/s11481-016-9670-0  0.44
2015 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. Proceedings of the National Academy of Sciences of the United States of America. PMID 26630010 DOI: 10.1073/pnas.1520099112  0.44
2015 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, ... ... Gunel M, et al. Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome. Nature Genetics. 47: 809-13. PMID 26005868 DOI: 10.1038/ng.3311  0.44
2015 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. 25: 836-44. PMID 25900930 DOI: 10.1093/glycob/cwv024  0.44
2015 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, ... ... Gunel M, et al. Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. Nature Genetics. 47: 528-34. PMID 25848753 DOI: 10.1038/ng.3256  0.44
2015 Murray PB, Lax I, Reshetnyak A, Ligon GF, Lillquist JS, Natoli EJ, Shi X, Folta-Stogniew E, Gunel M, Alvarado D, Schlessinger J. Heparin is an activating ligand of the orphan receptor tyrosine kinase ALK. Science Signaling. 8: ra6. PMID 25605972 DOI: 10.1126/scisignal.2005916  0.44
2015 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, Marcondes de Souza J, Lee C, et al. Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 17: 188-96. PMID 25122144 DOI: 10.1038/gim.2014.97  0.44
2015 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, ... ... Gunel M, et al. Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans. European Journal of Human Genetics : Ejhg. 23: 165-72. PMID 24781755 DOI: 10.1038/ejhg.2014.82  0.44
2014 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, ... ... Gunel M, et al. Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations. Pediatric Neurology. 51: 806-813.e8. PMID 25456301 DOI: 10.1016/j.pediatrneurol.2014.08.025  0.44
2014 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, ... ... Gunel M, et al. CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration. Cell. 157: 651-63. PMID 24766810 DOI: 10.1016/j.cell.2014.03.049  0.44
2014 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 GM, Karminejad A, ... ... Gunel M, et al. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science (New York, N.Y.). 343: 506-11. PMID 24482476 DOI: 10.1126/science.1247363  0.44
2014 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, ... ... Gunel M, et al. Mutations in CSPP1 lead to classical Joubert syndrome. American Journal of Human Genetics. 94: 80-6. PMID 24360807 DOI: 10.1016/j.ajhg.2013.11.015  0.44
2013 Radmanesh F, Caglayan AO, Silhavy JL, Yilmaz C, Cantagrel V, Omar T, Rosti B, Kaymakcalan H, Gabriel S, Li M, Sestan N, Bilguvar K, Dobyns WB, Zaki MS, Gunel M, et al. Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. American Journal of Human Genetics. 92: 468-74. PMID 23472759 DOI: 10.1016/j.ajhg.2013.02.005  0.44
2013 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, ... ... Gunel M, et al. 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. 110: 3489-94. PMID 23359680 DOI: 10.1073/pnas.1222732110  0.44
2013 Onat OE, 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 : Ejhg. 21: 281-5. PMID 22892528 DOI: 10.1038/ejhg.2012.170  0.44
2012 Bamshad MJ, Shendure JA, Valle D, Hamosh A, Lupski JR, Gibbs RA, Boerwinkle E, Lifton RP, Gerstein M, Gunel M, Mane S, Nickerson DA. 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. 158: 1523-5. PMID 22628075 DOI: 10.1002/ajmg.a.35470  0.44
2011 Gulsuner 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, et al. Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred. Genome Research. 21: 1995-2003. PMID 21885617 DOI: 10.1101/gr.126110.111  0.44
2011 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, ... ... Gunel M, et al. The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis. American Journal of Human Genetics. 88: 523-35. PMID 21529752 DOI: 10.1016/j.ajhg.2011.03.019  0.44
2011 Gharavi 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, ... ... Gunel M, et al. Genome-wide association study identifies susceptibility loci for IgA nephropathy. Nature Genetics. 43: 321-7. PMID 21399633 DOI: 10.1038/ng.787  0.44
2010 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, ... ... Gunel M, et al. L-histidine decarboxylase and Tourette's syndrome. The New England Journal of Medicine. 362: 1901-8. PMID 20445167 DOI: 10.1056/NEJMoa0907006  0.44
2010 Erturk O, Bilguvar K, Korkmaz B, Bayri Y, Bayrakli F, Arlier Z, Ozturk AK, Yalcinkaya C, Tuysuz B, State MW, Gunel M. A patient with Duchenne muscular dystrophy and autism demonstrates a hemizygous deletion affecting Dystrophin. American Journal of Medical Genetics. Part A. 152: 1039-42. PMID 20358624 DOI: 10.1002/ajmg.a.33312  0.44
2010 Ozduman K, Ozkan A, Yildirim O, Pamir MN, Gunel M, Kilic T. Temporal expression of angiogenesis-related genes in developing neonatal rodent retina: a novel in vivo model to study cerebral vascular development. Neurosurgery. 66: 538-43; discussion 5. PMID 20173549 DOI: 10.1227/01.NEU.0000365615.24973.26  0.44
2010 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). Journal of Child Neurology. 25: 1265-8. PMID 20110217 DOI: 10.1177/0883073809357241  0.4
2010 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. 11: 319-25. PMID 20082205 DOI: 10.1007/s10048-009-0232-y  0.44
2010 Nixon AM, Gunel M, Sumpio BE. The critical role of hemodynamics in the development of cerebral vascular disease: A review Journal of Neurosurgery. 112: 1240-1253. PMID 19943737 DOI: 10.3171/2009.10.JNS09759  0.44
2009 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. American Journal of Medical Genetics. Part A. 149: 2569-72. PMID 19876906 DOI: 10.1002/ajmg.a.33063  0.44
2009 Bilguvar 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. 155: 743-5. PMID 19840616 DOI: 10.1016/j.jpeds.2009.04.014  0.44
2009 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. Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia. 16: 1610-4. PMID 19793656 DOI: 10.1016/j.jocn.2009.03.022  0.44
2008 Tüysüz 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. 9: 119-25. PMID 18322713 DOI: 10.1007/s10048-008-0121-9  0.44
2008 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, ... ... Gunel M, et al. Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. American Journal of Human Genetics. 82: 165-73. PMID 18179895 DOI: 10.1016/j.ajhg.2007.09.017  0.44
2007 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. 107: 495-499. PMID 18154020 DOI: 10.3171/PED-07/12/495  0.44
2007 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. Human Mutation. 28: 1236-40. PMID 17676595 DOI: 10.1002/humu.20592  0.44
2007 Guzel 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. 143: 672-677. PMID 17343267 DOI: 10.1002/ajmg.a.31640  0.44
2005 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, et al. Sequence variants in SLITRK1 are associated with Tourette's syndrome. Science (New York, N.Y.). 310: 317-20. PMID 16224024 DOI: 10.1126/science.1116502  0.44
2003 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, et al. 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. 100: 4684-9. PMID 12682296 DOI: 10.1073/pnas.0730775100  0.44
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