Yale School of Medicine

Neurosurgery

Louvi Research, Neurosurgery

Williamson Research, Neurosurgery

Neurosurgery
P.O., Box 208082
New Haven, CT 06520-8082
Tel: 203.785.2805
Fax: 203.785.6916
neurosurgery@yale.edu

Publications

Selected Articles

  1. Bilguvar K, Yasuno K, Niemelä M, Ruigrok YM, Fraunberg M, van Duijn CM, Berg LH, Mane S, Mason CE, Choi M, Gaal 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 MMB, Wijmenga C, State MW, Rinkel GJE, Hernesniemi J, Jääskeläinen JE, Palotie A, Inoue I, Lifton RP, Gunel M. (2008) Genome-wide association identifies susceptibility loci for intracranial aneurysm in European and Japanese populations. Nature Genetics. (NG-A23714), online pub date Nov 8, 2008.
  2. Chen L, Tanriover G, Yano H, Friendlander R, Louvi A, Gunel M. (2008) Pro-apoptotic functions of PCDC10, the gene mutated in Cerebral Cavernous Malformation 3. Stroke. in press (manuscript #527135).
  3. Tanriover G, Boylan AJ, Diluna ML, Pricola KL, Louvi A, Gunel M. (2008). PDCD10, the gene mutated in cerebral cavernous malformation 3, is expressed in the neurovascular unit. Neurosurgery. 62:930-8; discussion 938.
  4. T?ys?z 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. (2008). Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population. Neurogenetics. 9:119-25.
  5. Bakkaloglu, B.*, O'Roak, B.J.*, Louvi, A., Gupta, A.R., Abelson, J.F., Morgan, T.T., Chawarska, K., Klin, A., Ercan-Sencicek, A. G., Stillman, A.A., Tanriover, G., Abrahams, B.S., Duvall, J.A., Robbins, E.M., Geschwind, D.H., Biederer, T., Gunel, M., Lifton, R.P. and State, M.W. (2008). Molecular cytogenetic analysis and re-sequencing of Contactin Associated Protein-like 2 in Autism Spectrum Disorders. Am. J. Hum. Genet. 82, 165-173. (*equal contribution)
  6. 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. (2007). A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly. Laboratory investigation. J Neurosurg. 107:495-9.
  7. Bayrakli F, Bilguvar K, Mason CE, DiLuna ML, Bayri Y, Gungor L, Terzi M, Mane SM, Lifton RP, State MW, Gunel M. (2007). Rapid identification of disease-causing mutations using copy number analysis within linkage intervals. Hum Mutat. 28:1236-40.
  8. Guzel A, Tatli M, Bilguvar K, Diluna ML, Bakkaloglu B, Ozturk AK, Bayrakli F, Gunel M. (2007). Apparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cysts. Am J Med Genet A. 143:672-7.
  9. Nahed BV, Bydon M, Ozturk AK, Bilguvar K, Bayrakli F, Gunel M. (2007). Genetics of intracranial aneurysms. Neurosurgery. 60:213-25; discussion 225-6.
  10. Ozturk AK, Nahed BV, Bydon M, Bilguvar K, Goksu E, Bademci G, Guclu B, Johnson MH, Amar A, Lifton RP, Gunel M. (2006). Molecular genetic analysis of two large kindreds with intracranial aneurysms demonstrates linkage to 11q24-25 and 14q23-31. Stroke. 37:1021-7.
  11. Seker A, Pricola KL, Guclu B, Ozturk AK, Louvi A, Gunel M. (2006). CCM2 expression parallels that of CCM1. Stroke. 37:518-23.
  12. Guclu B, Ozturk AK, Pricola KL, Bilguvar K, Shin D, O'Roak BJ, Gunel M. (2005). Mutations in apoptosis-related gene, PDCD10, cause cerebral cavernous malformation 3. Neurosurgery. 57:1008-13.
  13. Nahed BV, DiLuna ML, Morgan T, Ocal E, Hawkins AA, Ozduman K, Kahle KT, Chamberlain A, Amar AP, Gunel M. (2005). Hypertension, age, and location predict rupture of small intracranial aneurysms. Neurosurgery. 57:676-83; discussion 676-83.
  14. Guclu B, Ozturk AK, Pricola KL, Seker A, Ozek M, Gunel M. (2005). Cerebral venous malformations have distinct genetic origin from cerebral cavernous malformations. Stroke. 36:2479-80.
  15. Abelson, J. F., Kwan K. Y., O'Roak B. J., Baek, D. Y., Stillman, A. A., Morgan, T. M., Mathews, C. A., Pauls, D. L., Rasin, M.-R., Gunel, M., Davis, N. R., Ercan-Sencicek, A. G., Guez, D. H., Spertus, J. A., Leckman, J. F., Dure, L. S., Kurlan, R., Singer, H. S., Gilbert, D. L., Farhi, A., Louvi, A., Lifton, R.P., Sestan, N., and State, M.W. (2005). Sequence Variants in SLITRK1 Are Associated with Tourette Syndrome. Science 310:317-320.
  16. Nahed BV, Seker A, Guclu B, Ozturk AK, Finberg K, Hawkins AA, DiLuna ML, State M, Lifton RP, Gunel M. (2005). Mapping a Mendelian form of intracranial aneurysm to 1p34.3-p36.13. Am. J. Hum. Genet. 76:172-9.
  17. Guzeloglu-Kayisli O, Kayisli UA, Amankulor NM, Voorhees JR, Gokce O, DiLuna ML, Laurans MS, Luleci G, Gunel M. (2004). Krev1 interaction trapped-1/cerebral cavernous malformation-1 protein expression during early angiogenesis. J Neurosurg. 100:481-7.
  18. Guzeloglu-Kayisli O, Amankulor NM, Voorhees J, Luleci G, Lifton RP, Gunel M. (2004). KRIT1/cerebral cavernous malformation 1 protein localizes to vascular endothelium, astrocytes, and pyramidal cells of the adult human cerebral cortex. Neurosurgery. 54:943-9; discussion 949.
  19. 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. (2003). Mutational analysis of 206 families with cavernous malformations. J Neurosurg. 99:38-43.
  20. Gunel M, Laurans MS, Shin D, DiLuna ML, Voorhees J, Choate K, Nelson-Williams C, Lifton RP. (2002). KRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein. Proc Natl Acad Sci U S A. 99:10677-82.
  21. Wilson FH, Disse-Nicod?me S, Choate KA, Ishikawa K, Nelson-Williams C, Desitter I, Gunel M, Milford DV, Lipkin GW, Achard JM, Feely MP, Dussol B, Berland Y, Unwin RJ, Mayan H, Simon DB, Farfel Z, Jeunemaitre X, Lifton RP. (2001). Human hypertension caused by mutations in WNK kinases. Science. 293:1107-12.
  22. Craig HD, G?nel M, Cepeda O, Johnson EW, Ptacek L, Steinberg GK, Ogilvy CS, Berg MJ, Crawford SC, Scott RM, Steichen-Gersdorf E, Sabroe R, Kennedy CT, Mettler G, Beis MJ, Fryer A, Awad IA, Lifton RP. (1998). Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27. Hum Mol Genet. 7:1851-8.
  23. Gunel M, Awad IA, Finberg K, Anson JA, Steinberg GK, Batjer HH, Kopitnik TA, Morrison L, Giannotta SL, Nelson-Williams C, Lifton RP. (1996). A founder mutation as a cause of cerebral cavernous malformation in Hispanic Americans. N Engl J Med. 334:946-51.
  24. Günel M, Awad IA, Anson J, Lifton RP. (1995). Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21. Proc Natl Acad Sci U S A. 92:6620-4.