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  • Nixdorff-German Professor
    Chief, Yale Neurovascular Surgery Program
    Co-director, Yale Program on Neurogenetics
    Director, Yale Program in Brain Tumor Research
    Departments of Neurosurgery, Neurobiology and Genetics
    Yale University School of Medicine

    Lecture Title: "Next Generation Genomics"

    READING LIST:

    1. Genome-wide association study of intracranial aneurysm identifies three new risk loci (PDF)

    2. Common variant near the endothelin receptor type A (EDNRA) gene is associated with intracranial aneurysm risk (PDF)

    3. Genomic Analysis of Non-NF2 Meningiomas Reveals Mutations in TRAF7, KLF4, AKT1, and SMO (PDF)

    4. Recessive LAMC3 mutations cause malformations of occipital cortical development (PDF)

    5. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations (PDF)

    6. Clark VE, Erson-Omay EZ, Serin A, Yin J, Cotney J, Ozduman K, Avsar T, Li J, Murray PB, Henegariu O, Yilmaz S, Günel JM, Carrión-Grant G, Yilmaz B, Grady C, Tanrikulu B, Bakircioglu 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;339(6123):1077-80. doi: 10.1126/science.1233009. Epub 2013 Jan 24. PubMed PMID: 23348505.

    7. Yasuno K, Bakircioglu 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;108(49):19707-12. doi: 10.1073/pnas.1117137108. Epub 2011 Nov 21. PubMed PMID: 22106312; PubMed Central PMCID: PMC3241810.

    8. Barak T, Kwan KY, Louvi A, Demirbilek V, Saygi S, Tüysüz B, Choi M, Boyaci H, Doerschner K, Zhu Y, Kaymakçalan H, Yilmaz S, Bakircioglu M, Caglayan AO, Oztürk AK, Yasuno K, Brunken WJ, Atalar E, Yalçinkaya 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;43(6):590-4. doi: 10.1038/ng.836. Epub 2011 May 15. PubMed PMID: 21572413; PubMed Central PMCID: PMC3329933.

    9. Bilgüvar K, Oztürk AK, Louvi A, Kwan KY, Choi M, Tatli B, Yalnizoglu D, Tüysüz B, Caglayan AO, Gökben S, Kaymakçalan H, Barak T, Bakircioglu 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, Kumandas 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;467(7312):207-10. doi: 10.1038/nature09327. Epub 2010 Aug 22. PubMed PMID: 20729831; PubMed Central PMCID: PMC3129007.

    10. 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;42(5):420-5. doi: 10.1038/ng.563. Epub 2010 Apr 4. PubMed PMID: 20364137; PubMed Central PMCID: PMC2861730.