2010 Publications

  1. Beech RD, Lowthert L, Leffert JJ, Mason PN,Taylor MM, Umlauf S, Lin A, Lee JY, Maloney K, Muralidharan A, Lorberg B, Zhao H, Newton SS, Mane S, Epperson CN, Sinha R, Blumberg H, Bhagwagar Z. (2010) Increased peripheral blood expression of electron transport chain genes in bipolar depression. Bipolar Disord. 12: 813-824.
  2. 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. (2010) Whole exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature. 467: 207-210.
  3. Choate KA, Lu Y, Zhou J, Choi M, Elias P, Farhi A, Nelson-Williams C, Crumrine D, Williams ML, Nopper AJ, Bree AF, Milstone LM, Lifton RP. (2010) Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10. Science. 330: 94-97.
  4. 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. (2010) L-Histidine Decarboxylase and Tourette's Syndrome. New Engl. J. Med. 362: 1901–1908.
  5. Erturk O, Bilguvar K, Korkmaz B, Bayri Y, Bayrakli F, Arlier Z, Ozturk AK, Yalcinkaya C, Tuysuz B, State MW, Gunel M. (2010) A Patient with Duchenne Muscular Dystrophy and Autism Demonstrates a Hemizygous Deletion Affecting Dystrophin. Am. J. Med. Genet. A. 152A: 1039-1042.
  6. Ganeshwaran H. Mochida, Vijay S. Ganesh, Jillian M. Felie, Danielle Gleason, R. Sean Hill, Katie Rose Clapham, Daniel Rakiec, Wen-Hann Tan, Nadia Akawi, Muna Al-Saffar, Jennifer N. Partlow, Sigrid Tinschert, A. James Barkovich, Bassam Ali, Lihadh Al-Gazali, Christopher A. Walsh. (2010) A Homozygous Mutation in the Tight-Junction Protein JAM3 Causes Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts. Am. J. Hum. Genet. 87: 882-889.
  7. Halene S, Gaines P, Sun H, Zibello T, Lin S, Khanna-Gupta A, Williams SC, Perkins A, Krause D, Berliner N. (2010) C/EBPepsilon directs granulocytic-vs-monocytic lineage determination and confers chemotactic function via Hlx. Exp Hematol. 38: 90-103.
  8. Halene S, Gao Y, Hahn K, Massaro S, Italiano JE Jr, Schulz V, Lin S, Kupfer GM, Krause DS. (2010) Serum response factor is an essential transcription factor in megakaryocytic maturation. Blood. 116: 1942-1950.
  9. 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. (2010) Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy. Neurogenetics. 11: 319-325.
  10. Sundaram SK, Huq AHM, Wilson B, Chugani HT. (2010) Tourette syndrome is associated with recurrent exonic copy number variants. Neurology. 74: 1583-1590.
  11. Yasukochi Y, Maruyama O, Mahajan MC, Padden C, Euskirchen GM, Schulz V, Hirakawa H, Kuhara S, Pan XH, Newburger PE, Snyder M, Weissman SM. (2010) X chromosome-wide analyses of genomic DNA methylation states and gene expression in male and female neutrophils. Proc Natl Acad Sci U S A. 107: 3704-3709.
  12. 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. (2010) Genome-wide association study of intracranial aneurysm identifies 3 risk loci. Nat. Genet. 42: 420-425.